Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionaspartic-type endopeptidase activity

CNTNAP5 ERVK-7 ERVK-21 ERVK-9 ERVK-24

4.31e-0737835GO:0004190
GeneOntologyMolecularFunctionaspartic-type peptidase activity

CNTNAP5 ERVK-7 ERVK-21 ERVK-9 ERVK-24

4.95e-0738835GO:0070001
GeneOntologyMolecularFunctionbeta-adrenergic receptor kinase activity

GRK2 GRK3

1.02e-044832GO:0047696
GeneOntologyMolecularFunctionG protein-coupled receptor kinase activity

GRK2 GRK3

3.54e-047832GO:0004703
GeneOntologyMolecularFunctionpeptidase activity

MBTPS1 CNTNAP5 ANPEP USP9X PAN2 ERVK-7 ERVK-21 ERVK-9 ERVK-24 CTSW

3.75e-046548310GO:0008233
GeneOntologyMolecularFunctionendopeptidase activity

MBTPS1 CNTNAP5 USP9X ERVK-7 ERVK-21 ERVK-9 ERVK-24 CTSW

4.17e-04430838GO:0004175
GeneOntologyMolecularFunctionprotein-membrane adaptor activity

SPTBN4 ATG16L1 SYNE1

8.66e-0445833GO:0043495
GeneOntologyMolecularFunctionstructural molecule activity

SPTBN4 ANK1 SPTA1 SPTBN1 ERVK13-1 LAMA5 MRPL52 ERVK-7 ERVK-21 ERVK-9 ERVK-24

1.12e-038918311GO:0005198
GeneOntologyMolecularFunctionzinc ion binding

RNF167 TRAF5 AARS2 ANPEP RTL3 APOBEC1 ERVK-7 ERVK-21 ERVK-9 ERVK-24 ZFAND4

1.12e-038918311GO:0008270
GeneOntologyBiologicalProcesscilium assembly

DNHD1 CFAP91 KIF27 ZMYND10 HAP1 USP9X SYNE1 LAMA5 DRC1 NME8 NOTCH1 JHY

2.08e-074448312GO:0060271
GeneOntologyBiologicalProcesscilium organization

DNHD1 CFAP91 KIF27 ZMYND10 HAP1 USP9X SYNE1 LAMA5 DRC1 NME8 NOTCH1 JHY

4.36e-074768312GO:0044782
GeneOntologyBiologicalProcessorganelle assembly

DNHD1 ATG16L1 CFAP91 KIF27 ZMYND10 HAP1 USP9X SYNE1 LRSAM1 PAN2 LAMA5 DRC1 CENPK NME8 NOTCH1 TNS3 JHY

2.32e-0611388317GO:0070925
GeneOntologyBiologicalProcessplasma membrane bounded cell projection assembly

DNHD1 CFAP91 ATP7A KIF27 ZMYND10 HAP1 USP9X SYNE1 LAMA5 DRC1 NME8 NOTCH1 JHY

2.61e-066708313GO:0120031
GeneOntologyBiologicalProcesscell projection assembly

DNHD1 CFAP91 ATP7A KIF27 ZMYND10 HAP1 USP9X SYNE1 LAMA5 DRC1 NME8 NOTCH1 JHY

3.32e-066858313GO:0030031
GeneOntologyBiologicalProcessneuron projection development

SPTBN4 BICDL1 SETX ATP7A TENM3 HAP1 USP9X SYNE1 LAMA5 CC2D1A LRRC7 FRYL IL6 NOTCH1 TIAM2 SLC12A5 NIN

1.16e-0512858317GO:0031175
GeneOntologyBiologicalProcessneuron development

SPTBN4 BICDL1 SETX ATP7A TENM3 HAP1 USP9X SYNE1 LAMA5 CC2D1A LRRC7 FRYL GBA2 IL6 NOTCH1 TIAM2 SLC12A5 NIN

1.65e-0514638318GO:0048666
GeneOntologyBiologicalProcessmicrotubule-based movement

DNHD1 ATG16L1 BICDL1 CFAP91 KIF27 ZMYND10 HAP1 DRC1 NME8 JHY

2.84e-054938310GO:0007018
GeneOntologyBiologicalProcesscilium movement

DNHD1 CFAP91 KIF27 ZMYND10 DRC1 NME8 JHY

8.77e-05261837GO:0003341
GeneOntologyBiologicalProcessviral process

ATG16L1 GRK2 ANPEP LRSAM1 ERVK-7 ERVK-21 ERVK-9 ERVK-24 NOTCH1

1.03e-04464839GO:0016032
GeneOntologyBiologicalProcesscellular response to interleukin-17

TRAF5 IL6 NOTCH1

1.20e-0424833GO:0097398
GeneOntologyBiologicalProcesspositive regulation of cell projection organization

SETX ATP7A TENM3 ZMYND10 HAP1 LRRC7 IL6 TIAM2 NIN

1.65e-04494839GO:0031346
GeneOntologyBiologicalProcessresponse to interleukin-17

TRAF5 IL6 NOTCH1

1.71e-0427833GO:0097396
GeneOntologyCellularComponentspectrin-associated cytoskeleton

ANK1 SPTA1 SPTBN1

5.17e-069843GO:0014731
GeneOntologyCellularComponentspectrin

SPTBN4 SPTA1 SPTBN1

5.17e-069843GO:0008091
GeneOntologyCellularComponentaxon

SPTBN4 SETX ATP7A GRK2 GRK3 ANK1 TENM3 HAP1 USP9X SPTA1 SPTBN1 LRRC7 TIAM2 NIN

1.16e-058918414GO:0030424
GeneOntologyCellularComponentA band

LRRC39 ANK1 PPP1R12B SPTBN1

5.67e-0552844GO:0031672
GeneOntologyCellularComponentaxonemal dynein complex

DNHD1 DRC1 NME8

1.35e-0425843GO:0005858
GeneOntologyCellularComponentsperm flagellum

DNHD1 ATG16L1 GRK3 DRC1 NME8 PMFBP1

2.24e-04214846GO:0036126
GeneOntologyCellularComponentcilium

DNHD1 ATG16L1 CFAP91 GRK2 GRK3 KIF27 USP9X DRC1 RAB27A NME8 PMFBP1 NIN

2.40e-048988412GO:0005929
GeneOntologyCellularComponentM band

LRRC39 ANK1 SPTBN1

2.59e-0431843GO:0031430
GeneOntologyCellularComponent9+2 motile cilium

DNHD1 ATG16L1 GRK3 DRC1 NME8 PMFBP1

3.96e-04238846GO:0097729
GeneOntologyCellularComponentmain axon

SPTBN4 ANK1 SPTBN1 LRRC7

4.57e-0489844GO:0044304
GeneOntologyCellularComponentsarcomere

LRRC39 GRK3 ANK1 SYNE1 PPP1R12B SPTBN1

5.03e-04249846GO:0030017
GeneOntologyCellularComponentsite of polarized growth

SETX HAP1 USP9X FRYL TIAM2 NIN

5.47e-04253846GO:0030427
GeneOntologyCellularComponentmotile cilium

DNHD1 ATG16L1 CFAP91 GRK3 DRC1 NME8 PMFBP1

5.67e-04355847GO:0031514
GeneOntologyCellularComponentmyofibril

LRRC39 GRK3 ANK1 SYNE1 PPP1R12B SPTBN1

8.14e-04273846GO:0030016
GeneOntologyCellularComponentcontractile muscle fiber

LRRC39 GRK3 ANK1 SYNE1 PPP1R12B SPTBN1

1.11e-03290846GO:0043292
GeneOntologyCellularComponentcuticular plate

SPTA1 SPTBN1

1.21e-0313842GO:0032437
GeneOntologyCellularComponentdynein complex

DNHD1 DRC1 NME8

1.34e-0354843GO:0030286
GeneOntologyCellularComponentaxoneme

DNHD1 ATG16L1 CFAP91 DRC1 NME8

1.49e-03207845GO:0005930
GeneOntologyCellularComponentciliary plasm

DNHD1 ATG16L1 CFAP91 DRC1 NME8

1.52e-03208845GO:0097014
GeneOntologyCellularComponentplasma membrane bounded cell projection cytoplasm

DNHD1 ATG16L1 CFAP91 HAP1 DRC1 NME8

1.75e-03317846GO:0032838
GeneOntologyCellularComponentcortical cytoskeleton

SPTBN4 ANK1 SPTA1 SPTBN1

1.82e-03129844GO:0030863
GeneOntologyCellularComponentspecific granule lumen

LRRC7 RAB27A CNN2

2.00e-0362843GO:0035580
GeneOntologyCellularComponentsperm midpiece

ATG16L1 GRK3 NME8

2.19e-0364843GO:0097225
GeneOntologyCellularComponentactin cytoskeleton

SPTBN4 HAP1 SPTA1 PPP1R12B SPTBN1 LRRC7 CNN2 TNS3

2.20e-03576848GO:0015629
GeneOntologyCellularComponentpostsynapse

ATP7A GRK2 GRK3 ANK1 HAP1 USP9X SYNE1 SPTBN1 LRRC7 NOTCH1 SLC12A5

2.48e-0310188411GO:0098794
GeneOntologyCellularComponentendolysosome membrane

ATG16L1 RNF167

2.89e-0320842GO:0036020
GeneOntologyCellularComponentdendritic spine

GRK2 GRK3 HAP1 SYNE1 LRRC7

2.93e-03242845GO:0043197
GeneOntologyCellularComponentgrowth cone

SETX HAP1 USP9X TIAM2 NIN

3.09e-03245845GO:0030426
GeneOntologyCellularComponentaxolemma

ANK1 SPTBN1

3.19e-0321842GO:0030673
GeneOntologyCellularComponentneuron spine

GRK2 GRK3 HAP1 SYNE1 LRRC7

3.20e-03247845GO:0044309
GeneOntologyCellularComponentcytoplasmic region

DNHD1 ATG16L1 CFAP91 HAP1 DRC1 NME8

3.29e-03360846GO:0099568
GeneOntologyCellularComponentpigment granule membrane

ATP7A RAB27A

3.50e-0322842GO:0090741
GeneOntologyCellularComponentchitosome

ATP7A RAB27A

3.50e-0322842GO:0045009
GeneOntologyCellularComponentmelanosome membrane

ATP7A RAB27A

3.50e-0322842GO:0033162
GeneOntologyCellularComponentmicrotubule associated complex

DNHD1 KIF27 DRC1 NME8

4.06e-03161844GO:0005875
GeneOntologyCellularComponentpostsynaptic specialization

ATP7A GRK2 GRK3 SPTBN1 LRRC7 NOTCH1 SLC12A5

4.12e-03503847GO:0099572
GeneOntologyCellularComponentneuron projection membrane

ANK1 SPTBN1 SLC12A5

4.41e-0382843GO:0032589
GeneOntologyCellularComponentglutamatergic synapse

ATG16L1 GRK2 GRK3 TENM3 SPTBN1 LAMA5 CC2D1A LRRC7 NOTCH1

5.47e-03817849GO:0098978
GeneOntologyCellularComponentaxon initial segment

SPTBN4 LRRC7

6.04e-0329842GO:0043194
GeneOntologyCellularComponentcortical actin cytoskeleton

SPTBN4 SPTA1 SPTBN1

6.26e-0393843GO:0030864
GeneOntologyCellularComponentendolysosome

ATG16L1 RNF167

6.45e-0330842GO:0036019
HumanPhenoAbnormal sperm motility

DNHD1 CFAP91 ZMYND10 DRC1 GBA2 NME8 PMFBP1

9.92e-06115357HP:0012206
HumanPhenoAbnormal sperm physiology

DNHD1 CFAP91 ZMYND10 DRC1 GBA2 NME8 PMFBP1

9.92e-06115357HP:0034809
HumanPhenoAbnormal sperm morphology

DNHD1 CFAP91 DRC1 GBA2 PMFBP1

7.53e-0566355HP:0012864
HumanPhenoAbnormal germ cell morphology

DNHD1 CFAP91 DRC1 GBA2 PMFBP1

8.10e-0567355HP:0012862
HumanPhenoAbnormal male germ cell morphology

DNHD1 CFAP91 DRC1 GBA2 PMFBP1

8.10e-0567355HP:0012863
HumanPhenoReduced sperm motility

DNHD1 CFAP91 ZMYND10 GBA2 PMFBP1

9.33e-0569355HP:0012207
HumanPhenoAbnormal sperm mid-piece morphology

DNHD1 PMFBP1

1.37e-043352HP:0012867
DomainSpectrin

SPTBN4 SYNE1 SPTA1 SPTBN1

2.23e-0623774PF00435
DomainSpectrin_repeat

SPTBN4 SYNE1 SPTA1 SPTBN1

5.86e-0629774IPR002017
DomainSpectrin/alpha-actinin

SPTBN4 SYNE1 SPTA1 SPTBN1

8.80e-0632774IPR018159
DomainSPEC

SPTBN4 SYNE1 SPTA1 SPTBN1

8.80e-0632774SM00150
DomainSpectrin_bsu

SPTBN4 SPTBN1

1.00e-044772IPR016343
DomainActinin_actin-bd_CS

SPTBN4 SYNE1 SPTBN1

1.12e-0423773IPR001589
DomainACTININ_2

SPTBN4 SYNE1 SPTBN1

1.12e-0423773PS00020
DomainACTININ_1

SPTBN4 SYNE1 SPTBN1

1.12e-0423773PS00019
DomainCH

SPTBN4 SYNE1 SPTBN1 CNN2

1.49e-0465774SM00033
DomainCH

SPTBN4 SYNE1 SPTBN1 CNN2

1.99e-0470774PF00307
Domain-

SPTBN4 SYNE1 SPTBN1 CNN2

2.10e-04717741.10.418.10
DomainCH

SPTBN4 SYNE1 SPTBN1 CNN2

2.34e-0473774PS50021
DomainCH-domain

SPTBN4 SYNE1 SPTBN1 CNN2

2.60e-0475774IPR001715
DomainGPCR_kinase

GRK2 GRK3

3.48e-047772IPR000239
DomainPH

SPTBN4 GRK2 GRK3 SPTBN1 DEF6 TIAM2

3.65e-04229776PF00169
DomainPH_dom-spectrin-type

SPTBN4 SPTBN1

5.93e-049772IPR001605
DomainPH

SPTBN4 GRK2 GRK3 SPTBN1 DEF6 TIAM2

1.01e-03278776SM00233
DomainPH_DOMAIN

SPTBN4 GRK2 GRK3 SPTBN1 DEF6 TIAM2

1.03e-03279776PS50003
DomainPH_domain

SPTBN4 GRK2 GRK3 SPTBN1 DEF6 TIAM2

1.05e-03280776IPR001849
Domain-

SPTBN4 GRK2 GRK3 SPTBN1 DEF6 TIAM2 TNS3

1.14e-033917772.30.29.30
DomainPH_dom-like

SPTBN4 GRK2 GRK3 SPTBN1 DEF6 TIAM2 TNS3

1.86e-03426777IPR011993
DomainAnk_2

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

1.95e-03215775PF12796
Domain-

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

3.60e-032487751.25.40.20
DomainANK

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

3.79e-03251775SM00248
DomainANK_REPEAT

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

3.92e-03253775PS50088
DomainAnkyrin_rpt-contain_dom

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

3.99e-03254775IPR020683
DomainANK_REP_REGION

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

3.99e-03254775PS50297
DomainAnkyrin_rpt

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

4.54e-03262775IPR002110
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SPTBN4 ANK1 SPTA1 SPTBN1

5.32e-0810584MM15112
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SPTBN4 ANK1 SPTA1 SPTBN1

7.47e-0631584M877
PathwayREACTOME_L1CAM_INTERACTIONS

SPTBN4 ANK1 SPTA1 SPTBN1

1.73e-0468584MM14968
Pubmed

Cell organization, growth, and neural and cardiac development require αII-spectrin.

ANK1 SPTA1 SPTBN1

1.67e-061085322159418
Pubmed

Expression patterns of NKCC1 in neurons and non-neuronal cells during cortico-hippocampal development.

SPTBN4 ANPEP SLC12A5

5.03e-061485336573432
Pubmed

Increased cation permeability in mutant mouse red blood cells with defective membrane skeletons.

ANK1 SPTA1

5.90e-0628527492791
Pubmed

Molecular pathology of inherited erythrocyte membrane disorders: hereditary spherocytosis and elliptocytosis.

ANK1 SPTA1

5.90e-0628521356891
Pubmed

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.

ANK1 SPTA1

5.90e-06285228694211
Pubmed

Altered airway and cardiac responses in mice lacking G protein-coupled receptor kinase 3.

GRK2 GRK3

5.90e-06285210198406
Pubmed

G-protein coupled receptor kinase 2 and 3 expression in human detrusor cultured smooth muscle cells.

GRK2 GRK3

5.90e-06285211762794
Pubmed

Cloning of GRK2 cDNA from S49 murine lymphoma cells.

GRK2 GRK3

5.90e-0628528638670
Pubmed

Dissecting the roles of GRK2 and GRK3 in μ-opioid receptor internalization and β-arrestin2 recruitment using CRISPR/Cas9-edited HEK293 cells.

GRK2 GRK3

5.90e-06285233060647
Pubmed

Lipid-binding role of betaII-spectrin ankyrin-binding domain.

ANK1 SPTBN1

5.90e-06285217716929
Pubmed

G protein--coupled receptor kinases.

GRK2 GRK3

5.90e-0628528035170
Pubmed

Resistance to malaria in ankyrin and spectrin deficient mice.

ANK1 SPTA1

5.90e-0628521832936
Pubmed

Direct regulation of interleukin-6 expression by Notch signaling in macrophages.

IL6 NOTCH1

5.90e-06285221983868
Pubmed

Conformational change of erythroid alpha-spectrin at the tetramerization site upon binding beta-spectrin.

SPTA1 SPTBN1

5.90e-06285217905835
Pubmed

Expression patterns of transcribed human endogenous retrovirus HERV-K(HML-2) loci in human tissues and the need for a HERV Transcriptome Project.

ERVK-21 ERVK-9 ERVK-24

1.12e-051885318664271
Pubmed

Organization of focal adhesion plaques is disrupted by action of the HIV-1 protease.

SPTBN4 SPTA1 SPTBN1

1.12e-051885312119179
Pubmed

LZTR1 is a regulator of RAS ubiquitination and signaling.

ATP7A SPTA1 SPTBN1 RAB27A NOTCH1

1.56e-0512785530442766
Pubmed

Targeted deletion of alpha-adducin results in absent beta- and gamma-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice.

ANK1 SPTA1 SPTBN1

1.56e-052085318723693
Pubmed

Human NK cells express CC chemokine receptors 4 and 8 and respond to thymus and activation-regulated chemokine, macrophage-derived chemokine, and I-309.

GRK2 GRK3

1.77e-05385210754297
Pubmed

A new spectrin, beta IV, has a major truncated isoform that associates with promyelocytic leukemia protein nuclear bodies and the nuclear matrix.

SPTBN4 SPTBN1

1.77e-05385211294830
Pubmed

Autophagy critically controls skin inflammation and apoptosis-induced stem cell activation.

ATG16L1 RIPK3

1.77e-05385237615626
Pubmed

βIV Spectrinopathies Cause Profound Intellectual Disability, Congenital Hypotonia, and Motor Axonal Neuropathy.

SPTBN4 ANK1

1.77e-05385229861105
Pubmed

Recurrent mutations in NF-κB pathway components, KMT2D, and NOTCH1/2 in ocular adnexal MALT-type marginal zone lymphomas.

KMT2D NOTCH1

1.77e-05385227566587
Pubmed

Beta-glucosidase 2 knockout mice with increased glucosylceramide show impaired liver regeneration.

GBA2 IL6

1.77e-05385222764777
Pubmed

Autophagy protein ATG16L1 prevents necroptosis in the intestinal epithelium.

ATG16L1 RIPK3

1.77e-05385229089374
Pubmed

Cellular stress induces TRB3/USP9x-dependent Notch activation in cancer.

USP9X NOTCH1

1.77e-05385227593927
Pubmed

β spectrin-dependent and domain specific mechanisms for Na+ channel clustering.

SPTBN4 SPTBN1

1.77e-05385232425157
Pubmed

Myeloid-Derived Suppressor Cells Endow Stem-like Qualities to Breast Cancer Cells through IL6/STAT3 and NO/NOTCH Cross-talk Signaling.

IL6 NOTCH1

1.77e-05385227197152
Pubmed

Spectrin's E2/E3 ubiquitin conjugating/ligating activity is diminished in sickle cells.

ANK1 SPTA1

1.77e-05385215929114
Pubmed

Differential effects of CC chemokines on CC chemokine receptor 5 (CCR5) phosphorylation and identification of phosphorylation sites on the CCR5 carboxyl terminus.

GRK2 GRK3

1.77e-05385210085131
Pubmed

Changing patterns in cytoskeletal mRNA expression and protein synthesis during murine erythropoiesis in vivo.

ANK1 SPTA1

1.77e-0538521385865
Pubmed

Cardiac function in mice overexpressing the beta-adrenergic receptor kinase or a beta ARK inhibitor.

GRK2 GRK3

1.77e-0538527761854
Pubmed

The N-termini of GRK2 and GRK3 simulate the stimulating effects of RKIP on β-adrenoceptors.

GRK2 GRK3

1.77e-05385231604529
Pubmed

Inherited hemolytic disease in mice: a review and update.

ANK1 SPTA1

1.77e-0538526763106
Pubmed

Orphanin FQ/nociceptin-mediated desensitization of opioid receptor-like 1 receptor and mu opioid receptors involves protein kinase C: a molecular mechanism for heterologous cross-talk.

GRK2 GRK3

1.77e-05385212130708
Pubmed

Ankyrin-independent membrane protein-binding sites for brain and erythrocyte spectrin.

ANK1 SPTA1

1.77e-0538522971657
Pubmed

The Critical Role of Notch1-TLR 4 Signaling in the Inflammatory and Fungicidal Activity of Macrophages Against Paracoccidioides brasiliensis Strain Pb18.

IL6 NOTCH1

1.77e-05385228600728
Pubmed

An intestinal organoid-based platform that recreates susceptibility to T-cell-mediated tissue injury.

ATG16L1 RIPK3

1.77e-05385232232483
Pubmed

The functional landscape of Hsp27 reveals new cellular processes such as DNA repair and alternative splicing and proposes novel anticancer targets.

CRNKL1 BICDL1 GRK3 ANK1 SPTBN1 CENPK

1.96e-0522585625277244
Pubmed

SR protein kinases promote splicing of nonconsensus introns.

SPTBN4 CRNKL1 CFAP20DC RIPK3 ZMYND10 ASXL3 TNS3

3.02e-0536185726167880
Pubmed

Human Sos1: a guanine nucleotide exchange factor for Ras that binds to GRB2.

SPTBN4 SPTA1 SPTBN1

3.12e-05258538493579
Pubmed

The membrane attachment protein for spectrin is associated with band 3 in human erythrocyte membranes.

ANK1 SPTA1

3.53e-054852379653
Pubmed

Clinical manifestation and phenotypic analysis of novel gene mutation in 28 Chinese children with hereditary spherocytosis.

ANK1 SPTA1

3.53e-05485233620149
Pubmed

Essential role of beta-adrenergic receptor kinase 1 in cardiac development and function.

GRK2 GRK3

3.53e-0548528917529
Pubmed

Hierarchical organization of multi-site phosphorylation at the CXCR4 C terminus.

GRK2 GRK3

3.53e-05485223734232
Pubmed

Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

ZMYND10 DRC1

3.53e-05485225186273
Pubmed

Reduced expression of G protein-coupled receptor kinases in schizophrenia but not in schizoaffective disorder.

GRK2 GRK3

3.53e-05485221784156
Pubmed

Spectrin deficient inherited hemolytic anemias in the mouse: characterization by spectrin synthesis and mRNA activity in reticulocytes.

ANK1 SPTA1

3.53e-0548526234993
Pubmed

Many human endogenous retrovirus K (HERV-K) proviruses are unique to humans.

ERVK-7 ERVK-24

3.53e-05485210469592
Pubmed

The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation.

SPTA1 SPTBN1

3.53e-05485221566095
Pubmed

Remarkable homology among the internal repeats of erythroid and nonerythroid spectrin.

SPTA1 SPTBN1

3.53e-0548523862089
Pubmed

Astrocytic DLL4-NOTCH1 signaling pathway promotes neuroinflammation via the IL-6-STAT3 axis.

IL6 NOTCH1

3.53e-05485239390606
Pubmed

Apparent structural differences at the tetramerization region of erythroid and nonerythroid beta spectrin as discriminated by phage displayed scFvs.

SPTA1 SPTBN1

3.53e-05485221412925
Pubmed

Notch Signaling in Nestin-Expressing Cells in the Bone Marrow Maintains Erythropoiesis via Macrophage Integrity.

IL6 NOTCH1

3.53e-05485230932281
Pubmed

Cloning, expression analysis, and chromosomal localization of murine and human homologues of a Xenopus mix gene.

TRAF5 SPTA1

3.53e-05485211084649
Pubmed

Erythroid phosphatidyl serine exposure is not predictive of thrombotic risk in mice with hemolytic anemia.

ANK1 SPTA1

3.53e-05485210772878
Pubmed

Phosphorylation of the type 1A angiotensin II receptor by G protein-coupled receptor kinases and protein kinase C.

GRK2 GRK3

3.53e-0548528662816
Pubmed

Spectrin alpha II and beta II isoforms interact with high affinity at the tetramerization site.

SPTA1 SPTBN1

3.53e-05485212820899
Pubmed

Quantitation of HERV-K env gene expression and splicing in human breast cancer.

ERVK-7 ERVK-21

5.87e-05585212629516
Pubmed

RGD-containing ankyrin externalized onto the cell surface triggers αVβ3 integrin-mediated erythrophagocytosis.

ANK1 SPTA1

5.87e-05585221406181
Pubmed

Major erythrocyte membrane protein genes in EKLF-deficient mice.

ANK1 SPTA1

5.87e-05585216728274
Pubmed

Enhanced contractility and decreased beta-adrenergic receptor kinase-1 in mice lacking endogenous norepinephrine and epinephrine.

GRK2 GRK3

5.87e-05585210338466
Pubmed

T-type calcium channels functionally interact with spectrin (α/β) and ankyrin B.

SPTA1 SPTBN1

5.87e-05585229720258
Pubmed

POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1.

CRNKL1 SETX KIF27 PPP1R12B SPTBN1 PASD1

6.24e-0527785630745168
Pubmed

Primary Ciliary Dyskinesia

ZMYND10 DRC1 NME8

6.64e-053285320301301
Pubmed

Synaptic GAP and GEF Complexes Cluster Proteins Essential for GTP Signaling.

GRK3 ATAD3A USP9X SYNE1 SPTBN1 LRRC7

6.76e-0528185628706196
Pubmed

A revised nomenclature for transcribed human endogenous retroviral loci.

ERVK-7 ERVK-21 ERVK-9 ERVK-24

8.57e-059485421542922
Pubmed

beta2-Adrenergic receptor regulation by GIT1, a G protein-coupled receptor kinase-associated ADP ribosylation factor GTPase-activating protein.

GRK2 GRK3

8.80e-0568529826657
Pubmed

Analysis of erythrocyte and platelet membrane proteins in various forms of beta-thalassemia.

SPTA1 SPTBN1

8.80e-05685215310273
Pubmed

Atg16L1, an essential factor for canonical autophagy, participates in hormone secretion from PC12 cells independently of autophagic activity.

ATG16L1 RAB27A

8.80e-05685222740627
Pubmed

Human TNF receptor-associated factor 5 (TRAF5): cDNA cloning, expression and assignment of the TRAF5 gene to chromosome 1q32.

TRAF5 SPTA1

8.80e-0568529177772
Pubmed

RIP1 inhibition blocks inflammatory diseases but not tumor growth or metastases.

ATG16L1 RIPK3

8.80e-05685231101885
Pubmed

Characterization of glycolytic enzyme interactions with murine erythrocyte membranes in wild-type and membrane protein knockout mice.

ANK1 SPTA1

8.80e-05685218698006
Pubmed

A novel ENU-induced ankyrin-1 mutation impairs parasite invasion and increases erythrocyte clearance during malaria infection in mice.

ANK1 SPTA1

8.80e-05685227848995
Pubmed

Function of the cytoplasmic tail of human calcitonin receptor-like receptor in complex with receptor activity-modifying protein 2.

GRK2 GRK3

8.80e-05685220074556
Pubmed

Genome-wide association study of multiplex schizophrenia pedigrees.

CNTNAP5 TENM3

8.80e-05685222885689
Pubmed

Combinatorial depletions of G-protein coupled receptor kinases in immune cells identify pleiotropic and cell type-specific functions.

GRK2 GRK3

8.80e-05685236451830
Pubmed

Kelch Domain of Gigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy.

DNHD1 TENM3 ATAD3A SYNE1 SPTA1

9.86e-0518785526460568
Pubmed

Pyrrole pigments in normal and congenitally anaemic mice (+:+, W-W v , ha-ha, nb-nb, mk-mk, f-f and sla-Y).

ANK1 SPTA1

1.23e-0478524404581
Pubmed

Autophagy regulates Notch degradation and modulates stem cell development and neurogenesis.

ATG16L1 NOTCH1

1.23e-04785226837467
Pubmed

Members of the G protein-coupled receptor kinase family that phosphorylate the beta2-adrenergic receptor facilitate sequestration.

GRK2 GRK3

1.23e-0478528672451
Pubmed

Determination of bradykinin B2 receptor in vivo phosphorylation sites and their role in receptor function.

GRK2 GRK3

1.23e-04785211517230
Pubmed

Hereditary disorders of the red cell in animals.

ANK1 SPTA1

1.64e-0488524596202
Pubmed

Molecular determinants of response kinetics of mouse M1 intrinsically-photosensitive retinal ganglion cells.

GRK2 GRK3

2.10e-04985234873237
Pubmed

Studies of erythrocyte protoporphyrin in anemic mutant mice: use of a modified hematofluorometer for the detection of heterozygotes for hemolytic disease.

ANK1 SPTA1

2.10e-049852658175
Pubmed

A B-Myb complex containing clathrin and filamin is required for mitotic spindle function.

SPTA1 SPTBN1

2.62e-041085218548008
Pubmed

Cloning, expression, and chromosomal localization of beta-adrenergic receptor kinase 2. A new member of the receptor kinase family.

GRK2 GRK3

2.62e-04108521869533
Pubmed

Patent ductus arteriosus in mice with smooth muscle-specific Jag1 deletion.

CNN2 NOTCH1

2.62e-041085221068062
Pubmed

USP9X-mediated NRP1 deubiquitination promotes liver fibrosis by activating hepatic stellate cells.

USP9X SPTBN1

2.62e-041085236653359
Pubmed

Disruption of transforming growth factor-beta signaling in ELF beta-spectrin-deficient mice.

ANK1 SPTBN1

2.62e-041085212543979
Pubmed

MECP2 directly interacts with RNA polymerase II to modulate transcription in human neurons.

CRNKL1 SETX MED16 ATAD3A SYNE1 SPTBN1 SUGP1 PAN2 AGPS GTF3C3

3.09e-041082851038697112
Pubmed

Brain proteins interacting with the tetramerization region of non-erythroid alpha spectrin.

SPTBN4 SPTBN1

3.20e-041185217607528
Pubmed

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors.

SPTBN1 LRRC7

3.20e-041185239256359
Pubmed

RIP1 kinase activity-dependent roles in embryonic development of Fadd-deficient mice.

RIPK3 IL6

3.83e-041285228574501
Pubmed

Interplay between Polo kinase, LKB1-activated NUAK1 kinase, PP1βMYPT1 phosphatase complex and the SCFβTrCP E3 ubiquitin ligase.

USP9X PPP1R12B

3.83e-041285224785407
Pubmed

Genomewide screening for fusogenic human endogenous retrovirus envelopes identifies syncytin 2, a gene conserved on primate evolution.

ERVK-21 ERVK-9

3.83e-041285214557543
Pubmed

A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.

ASXL3 NOTCH1

4.52e-041385236325906
Pubmed

alphaII-betaV spectrin bridges the plasma membrane and cortical lattice in the lateral wall of the auditory outer hair cells.

SPTBN4 SPTBN1

4.52e-041385218796539
Pubmed

Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia.

SYNE1 SPTBN1 FRYL TIAM2

5.26e-0415185417043677
Pubmed

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.

ANK1 SPTA1

5.27e-041485220858683
GeneFamilyEF-hand domain containing|Spectrins

SPTBN4 SPTA1 SPTBN1

9.76e-0775631113
GeneFamilyPleckstrin homology domain containing|Rho guanine nucleotide exchange factors|C2 domain containing

SPTBN4 GRK2 GRK3 SPTBN1 DEF6 TIAM2

4.11e-05206566682
GeneFamilyAnkyrin repeat domain containing

ANK1 PPP1R12B ANKRD30A ANKDD1B NOTCH1

9.03e-04242565403
CoexpressionFAN_EMBRYONIC_CTX_EX_4_EXCITATORY_NEURON

SPTBN4 BICDL1 SYNE1 LAMA5 CC2D1A NIN

1.29e-05166816M39026
CoexpressionGSE46606_UNSTIM_VS_CD40L_IL2_IL5_DAY1_STIMULATED_BCELL_UP

CFAP20DC GRK3 SPTBN1 KCNMB4 TNS3 NIN

3.39e-05197816M9862
CoexpressionGSE19941_UNSTIM_VS_LPS_STIM_IL10_KO_MACROPHAGE_DN

CFAP20DC TRAF5 ANKDD1B APOBEC1 ZFAND4 HEXIM2

3.69e-05200816M8106
CoexpressionGSE8921_3H_VS_24H_TLR1_2_STIM_MONOCYTE_UP

TRAF5 PPP1R12B ENPP4 CNN2 CTSW SLC12A5

3.69e-05200816M6424
CoexpressionGSE22601_IMMATURE_CD4_SINGLE_POSITIVE_VS_CD4_SINGLE_POSITIVE_THYMOCYTE_UP

CRNKL1 TRAF5 LAMA5 MRPL52 CNN2 CTSW

3.69e-05200816M6248
CoexpressionGSE43863_DAY6_EFF_VS_DAY150_MEM_LY6C_INT_CXCR5POS_CD4_TCELL_DN

RNF167 TRAF5 GRK2 FRYL CNN2 CTSW

3.69e-05200816M9733
ToppCellPBMC-Severe-Lymphocyte-T/NK-Other_T-dn_T|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

BICDL1 TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

1.23e-08152817405d19b290232bb3e564d61c0cff0cfdd247bdff
ToppCellPBMC-Severe-Lymphocyte-T/NK-Other_T-dn_T-|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

BICDL1 TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

1.23e-0815281706fa7d8acc8f56de00af9bee17884595b300410e
ToppCellPBMC-Severe-Lymphocyte-T/NK-Other_T-dn_T|Severe / Location, Disease Group, Cell group, Cell class (2021.03.09)

BICDL1 TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

1.29e-08153817b101cb1bce5db785dab46b6c4f7be9c3efe48b0e
ToppCellPBMC-Severe-Lymphocyte-T/NK-Other_T-dn_T-|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

BICDL1 TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

1.29e-08153817487388082bb596809ba1caf9197626b6814792ab
ToppCellCOVID-19_Severe-Lymphoid_T/NK-dn_T|COVID-19_Severe / Disease group, lineage and cell class

BICDL1 TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

1.48e-0815681783f25683e0f55472b56f915ee176fc05efc33a31
ToppCell3'-Parenchyma_lung-Epithelial-Airway_ciliated-ciliated_columnar_cell_of_tracheobronchial_tree-Multiciliated_(non-nasal)-Multiciliated_(non-nasal)_L.0.3.2.3|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

CFAP91 ZMYND10 CACNA2D2 NECAB1 C21orf58 SYNE1 DRC1

6.37e-08193817bdb7401dd9059032f930f2b575f2ef8e504b6594
ToppCellsevere-dn_T|severe / Cohort 1 (10x PBMC) with disease condition, cell group and cell class

RNF167 TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

7.59e-08198817d4f2213af45ada47e6c62675f468ce05692db507
ToppCelldroplet-Marrow-nan-3m-Lymphocytic-NK_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ATP7A GRK3 SYNE1 LRSAM1 AGPS NIN

8.10e-07175816cf53a15bfb37b6019e7052ffdf594a9ac040900e
ToppCellEpithelial-Epithelial-D_(Ciliated)|Epithelial / shred on cell class and cell subclass (v4)

CFAP91 KIF27 ZMYND10 C21orf58 SYNE1 DRC1

1.23e-061888168f30535a32968a81a304315a49c0d90a77d36948
ToppCellPND01-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Ciliated-Ciliated_mature|PND01 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1 C16orf96

1.27e-06189816b55de812043b670cbde810d7d42f45909b6d66ef
ToppCellPND10-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Ciliated-Ciliated_mature|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1 C16orf96

1.27e-0618981602c6128a9ab5818e0881dcadafdad5f08b9a67cf
ToppCellPND10-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Ciliated|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1 C16orf96

1.27e-06189816164ea92ff6a1aa2ead1c9b8f64f99a9d65437232
ToppCellPND01-Epithelial-Epithelial_Airway|PND01 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1 C16orf96

1.27e-0618981638cde34295566a4ecaf7d0a81c5a192cf17d0459
ToppCellPND01-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Ciliated|PND01 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1 C16orf96

1.27e-061898164e83e49d1265ffe507fdb72924c77c4d1c73f0bd
ToppCellPND01-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal|PND01 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1 C16orf96

1.35e-0619181696483adb97c81208aa513782550acd8a08b63866
ToppCellsevere-dn_T|World / Cohort 1 (10x PBMC) with disease condition, cell group and cell class

TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

1.57e-0619681614baf176bce5750ef50d6838b748caf68c151e05
ToppCellSevere-Lymphoid-T-CD8_T|Severe / Condition, Lineage, Cell class and cell subclass

BICDL1 SYNE1 DEF6 RAB27A CNN2 CTSW

1.61e-0619781600d884ec591f63a345d7fd0a6b368f9da4b4c6ce
ToppCellBAL-Severe-Lymphocyte-T/NK|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

SYNE1 DEF6 CENPK RAB27A CNN2 CTSW

1.71e-0619981628cec7122b143373f1c7c94acf35bf8f896e0d57
ToppCellSevere_COVID-19-T/NK|Severe_COVID-19 / Disease group,lineage and cell class (2021.01.30)

SYNE1 DEF6 CENPK RAB27A CNN2 CTSW

1.71e-06199816ace179b860513179e9275ed40ae1985a98385026
ToppCellBAL-Severe-Lymphocyte-T/NK|Severe / Location, Disease Group, Cell group, Cell class (2021.03.09)

SYNE1 DEF6 CENPK RAB27A CNN2 CTSW

1.71e-06199816c8a2c94809b2134b51bb9868b63cb280b490f3fe
ToppCellCOVID-19-COVID-19_Mild-Lymphocyte-T/NK-dn_T|COVID-19_Mild / Disease, condition lineage and cell class

TRAF5 PPP1R12B SPTBN1 DEF6 RAB27A CNN2

1.71e-06199816f307d4887b28cf60a591439e278fd668409cb104
ToppCellCOVID-19-COVID-19_Severe-Lymphocyte-T/NK-dn_T|COVID-19_Severe / Disease, condition lineage and cell class

TRAF5 PPP1R12B SPTBN1 DEF6 CENPK CNN2

1.76e-06200816d01aa5fccada22f97d8350ad5888df2aadb5bb1c
ToppCellCOVID-19_Severe-dn_T|COVID-19_Severe / Disease condition and Cell class

BICDL1 GRK3 PPP1R12B SPTBN1 CNN2

6.16e-061428152008033881b9e1b20926c3508d6ebdb6f1a1528f
ToppCellLPS-IL1RA+antiTNF-Myeloid-Monocytes,_Macrophages-Erythroid|LPS-IL1RA+antiTNF / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

ATG16L1 MED16 ANKDD1B LRRC7 CENPK

9.44e-061558154559e3011514041b65c17ae4ede29da202bce14c
ToppCellControl-Lymphocyte-T_NK-dnT|Control / Disease, Lineage and Cell Type

BICDL1 PPP1R12B SPTBN1 KCNMB4 CENPK

1.04e-051588157a2fad6426549d910834debfe5e102fe2ab5976d
ToppCellcontrol-dn_T|control / Cohort 1 (10x PBMC) with disease condition, cell group and cell class

ATG16L1 BICDL1 SPTBN1 CENPK CNN2

1.47e-05170815839f62860b4a52d06e6a8fce7632195c7310b89d
ToppCellILEUM-inflamed-(9)_Enteric_neurons|inflamed / shred on tissue, inflammation_status, cell class(v3), cell subclass (v2)

ARSL TENM3 ASXL3 ANKRD30A KCNMB4

1.84e-05178815d9142151819afb0dc22bfb32a9c9dba5f553067d
ToppCellILEUM-inflamed-(9)_Neuro_cell|inflamed / shred on tissue, inflammation_status, cell class(v3), cell subclass (v2)

ARSL TENM3 ASXL3 ANKRD30A KCNMB4

1.84e-05178815611504b0a9e6318b18fba83787b03f9245c82252
ToppCell356C-Lymphocytic-CD4_T-cell-CD4+_Effector_T_cell-1|CD4_T-cell / Donor, Lineage, Cell class and subclass (all cells)

LRRC39 CACNA2D2 RAB27A CTSW NIN

1.94e-05180815f24d4cbba4cb50fce3b3d9c4629aa856d9b05358
ToppCellPBMC_fresh-frozen-Severe-critical_progression_d12-22_no-steroids-Hematopoietic|Severe-critical_progression_d12-22_no-steroids / Compartment, severity and other cell annotations on 10x 3' data (130k)

ANK1 NECAB1 SPTA1 PGAP4 SLC12A5

1.99e-051818159dc0563453e24c9d1d975e2e0e1e272487e19908
ToppCellPBMC_fresh-frozen-Severe-critical_progression_d12-22_no-steroids-Hematopoietic-Megakaryocytic|Severe-critical_progression_d12-22_no-steroids / Compartment, severity and other cell annotations on 10x 3' data (130k)

ANK1 NECAB1 SPTA1 PGAP4 SLC12A5

1.99e-0518181514c2dd946e89ba578711c2d25935b6b3d319b701
ToppCellPBMC_fresh-frozen-Severe-critical_progression_d12-22_no-steroids-Hematopoietic-Megakaryocytic-Megakaryocyte|Severe-critical_progression_d12-22_no-steroids / Compartment, severity and other cell annotations on 10x 3' data (130k)

ANK1 NECAB1 SPTA1 PGAP4 SLC12A5

1.99e-05181815c5843b89f3d362e236ff76c3279518a2fdfc1f75
ToppCellPBMC_fresh-frozen-Severe-critical_progression_d12-22_no-steroids-Hematopoietic-Megakaryocytic-Megakaryocyte-Mega|Severe-critical_progression_d12-22_no-steroids / Compartment, severity and other cell annotations on 10x 3' data (130k)

ANK1 NECAB1 SPTA1 PGAP4 SLC12A5

1.99e-05181815fcefb5902416c004631f4f8dd5c8f99fe3bd90bc
ToppCellcellseq2-Immune-Lymphocytic_T/NK-Lymphocytic_T/NK-NK|cellseq2 / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

BICDL1 CACNA2D2 SYNE1 GBA2 CTSW

2.05e-051828158ccffcbae28c374fd4161fb0d4cf2c49fae557f6
ToppCellfacs-Brain_Non-Myeloid-Striatum_-18m-Neuronal-medium_spiny_neuron|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

NECAB1 DRC1 KBTBD12 LRRC7 TIAM2

2.10e-05183815bf7f1cb55ed55981b8b355d5774055c96e658ff2
ToppCellfacs-Brain_Non-Myeloid-Hippocampus-3m-Mesenchymal-ependymal_cell|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CFAP91 C21orf58 DRC1 NME8 JHY

2.10e-051838156ca7c2d7c56e0f1b9038ba677b4c1c3dfd63bfce
ToppCellfacs-Brain_Non-Myeloid-Striatum_-18m-Neuronal-SPN_Neuron_STR|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

NECAB1 DRC1 KBTBD12 LRRC7 TIAM2

2.10e-051838159533db4db2c6ae78d7ca1682cf4efed12183396f
ToppCellfacs-Brain_Non-Myeloid-Hippocampus-3m-Mesenchymal-Ependyma|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CFAP91 C21orf58 DRC1 NME8 JHY

2.10e-0518381518040d0653286071df959513c63d94b555a5d00a
ToppCell3'_v3-bone_marrow-Hematopoietic_Erythro-Mega-Erythrocytic_early|bone_marrow / Manually curated celltypes from each tissue

ANK1 NECAB1 SPTA1 KBTBD12 PGAP4

2.10e-05183815d43ba3fbbd9132125fa2b7ea0891a2c577974f14
ToppCell3'_v3-bone_marrow-Hematopoietic_progenitors-Progenitor_MEMP|bone_marrow / Manually curated celltypes from each tissue

CNTNAP5 ANK1 NECAB1 SPTA1 PGAP4

2.16e-05184815b81a2a95944cee8fec13d63dc0d95496e67aa937
ToppCellCOVID-19_Severe-gd_T|COVID-19_Severe / Disease condition and Cell class

GRK2 CACNA2D2 SYNE1 ENPP4 CTSW

2.16e-05184815791f1bcb954aadc63d4117c400537d036f68734d
ToppCellChildren_(3_yrs)-Epithelial-ciliated_cell-D139|Children_(3_yrs) / Lineage, Cell type, age group and donor

CFAP20DC CFAP91 ZMYND10 C21orf58 DRC1

2.16e-051848155daff849625f2f41d56615569c0ed59cd733b34c
ToppCelldroplet-Lung-nan-18m-Epithelial-Ciliated_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CFAP91 ZMYND10 C21orf58 DRC1 C16orf96

2.27e-05186815740fd06bcd3b24e6ff2ecf8080f378afc3e95084
ToppCelldroplet-Lung-nan-18m-Epithelial-ciliated_columnar_cell_of_tracheobronchial_tree|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

CFAP91 ZMYND10 C21orf58 DRC1 C16orf96

2.27e-051868155ab43a298d23238b34e898d11decf0ad81d1b14e
ToppCellfacs-Lung-EPCAM-3m-Epithelial-Ciliated_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

KIF27 ZMYND10 DRC1 KCNMB4 JHY

2.33e-0518781504dba2ed09ee4180830bdf0191921696697ea234
ToppCellP15-Epithelial-airway_epithelial_cell-club_cell|P15 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

KIF27 ZMYND10 C21orf58 DRC1 JHY

2.33e-05187815a70aaae32426e9ddb1cbfbd0e0db24ccc96b9f40
ToppCellfacs-Lung-EPCAM-3m-Epithelial-ciliated_columnar_cell_of_tracheobronchial_tree|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

KIF27 ZMYND10 DRC1 KCNMB4 JHY

2.33e-05187815805dafe22f835ece4dd091d8030d0a63b52a48dd
ToppCelldroplet-Marrow-nan-3m-Hematologic-megakaryocyte-erythroid_progenitor_cell|Marrow / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SYNE1 SPTBN1 AGPS RAB27A NIN

2.33e-0518781514c239af77116d28d511dea754b6150d20488080
ToppCelldroplet-Lung-1m-Epithelial-airway_epithelial-lung_ciliated_cell-ciliated_cell|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

KIF27 ZMYND10 C21orf58 DRC1 KCNMB4

2.39e-05188815bc0b9ba8ae88e8a89e98b446584ed39606e4229e
ToppCellSmart-seq2-bone_marrow_(Smart-seq2)|Smart-seq2 / Per Platform+tissue_group, by lineage_subgroup, cell_group, cell_type

ANK1 NECAB1 C21orf58 SYNE1 SPTA1

2.39e-05188815557a0ac069a6ff4e687cac032f64170b9b247165
ToppCellP15-Epithelial-airway_epithelial_cell|P15 / developmental_time, Lineage, Cell group, Cell type, Cell type_cellcyc-phase

KIF27 ZMYND10 C21orf58 DRC1 JHY

2.39e-05188815e3e71c0f2e374330620cb4d27638953ffa9f5298
ToppCelldroplet-Lung-1m-Epithelial-airway_epithelial|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

KIF27 ZMYND10 C21orf58 DRC1 KCNMB4

2.39e-0518881550994e304c719f2f3c3232e48141e2dd15c96612
ToppCelldroplet-Lung-1m-Epithelial-airway_epithelial-lung_ciliated_cell|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

KIF27 ZMYND10 C21orf58 DRC1 KCNMB4

2.39e-05188815a7b7ba56603a8a50869b41902aed6a9ab1c5c021
ToppCelldroplet-Lung-immune-endo-depleted-3m-Epithelial-ciliated_columnar_cell_of_tracheobronchial_tree|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

KIF27 ZMYND10 C21orf58 DRC1 KCNMB4

2.45e-0518981528c750ac56e3861fe7280e32839a4d8ce8bd8692
ToppCelldroplet-Lung-1m-Epithelial|1m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

KIF27 ZMYND10 C21orf58 DRC1 KCNMB4

2.45e-0518981572ecd5a10e419bac475e22f5b602e7f008835ce9
ToppCelldroplet-Lung-immune-endo-depleted-3m-Epithelial-Ciliated_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

KIF27 ZMYND10 C21orf58 DRC1 KCNMB4

2.45e-05189815efee01edd171bf569267b672fab05c421de6c92d
ToppCellPND10-Epithelial-Epithelial_Airway|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.45e-05189815407d8a59969d83f014600aae1a55092283a13970
ToppCellfacs-Heart-RA-24m-Mesenchymal-ventricular_myocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GJA3 ANK1 CACNA2D2 C21orf58 KBTBD12

2.45e-05189815e758b264c0a47127e33e66c395cf5a3224c7305b
ToppCellEpithelial-D_(Ciliated)|World / shred on cell class and cell subclass (v4)

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.45e-051898150bf560b595c7a8450a46bc821b742b67965bd9f9
ToppCellfacs-Heart-RA-24m-Mesenchymal-ventricular_cardiomyocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

GJA3 ANK1 CACNA2D2 C21orf58 KBTBD12

2.45e-05189815b98f60875b1a12b2ec9dc91889298ae57f98602f
ToppCellPND10-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal|PND10 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.45e-05189815a85099bd598a27ee64ee0664d051d89fa8d62fc9
ToppCellfacs-Lung-18m-Epithelial-airway_epithelial-lung_ciliated_cell-ciliated_cell|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.52e-051908159ffd18ef358f8e32c610ab6420f479067c8ba44b
ToppCellfacs-Lung-18m-Epithelial-airway_epithelial-lung_ciliated_cell|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.52e-051908153ef39d61c98de4e5df946b995847aa65eba6a4b6
ToppCellPND14-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal|PND14 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.52e-0519081535248a8be476ea8d06d67c3d98a25be1f7c150b7
ToppCell10x5'-blood-Lymphocytic_T_CD8-Trm/em_CD8|blood / Manually curated celltypes from each tissue

RNF167 SYNE1 CNN2 CTSW NIN

2.52e-05190815e1f474dc36bf9eaf457b14a8761d287904754cdc
ToppCellE18.5-Epithelial-Epithelial_Airway|E18.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.52e-051908155c012935ea5e35a2d0d08ea7dc04ffbe3c2a10ac
ToppCellfacs-Lung-3m-Epithelial-airway_epithelial-lung_ciliated_cell-ciliated_cell|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CFAP91 KIF27 ZMYND10 DRC1 KCNMB4

2.58e-05191815649fcb62ad15de2f83e61591e43923a717664ae7
ToppCellfacs-Lung-3m-Epithelial-airway_epithelial-lung_ciliated_cell|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

CFAP91 KIF27 ZMYND10 DRC1 KCNMB4

2.58e-051918159621e22e14ea069f22713947c9faa2d882abe5fe
ToppCellE18.5-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal|E18.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.58e-05191815acd844b477a069b2dcf07b2998e1b5c87dc0eb94
ToppCellPND03-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Ciliated|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.58e-05191815bda8faf92495c8b362850c0aff4fc6fbdd9c563b
ToppCellPBMC-Control-Lymphocyte-T/NK-NK_cell-NK_CD56bright|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

TRAF5 SYNE1 SPTBN1 CTSW NOTCH1

2.58e-05191815f1935e8f8467a2bc30588b7f2cc3b94e9c83b268
ToppCellPND03-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Ciliated-Ciliated_mature|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.58e-051918156880fb348bb0915db9a5da4f3566ca9ff93ed258
ToppCellPBMC-Control-Lymphocyte-T/NK-NK_cell-NK_CD56bright-|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

TRAF5 SYNE1 SPTBN1 CTSW NOTCH1

2.58e-051918151161e465c50c2071764279e01cf08b1048cce0e3
ToppCellE18.5-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Deuterosomal-Deuterosomal_mature|E18.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.58e-05191815e8d56e9f43943e9cc4dce83f2c234f19c2dd487d
ToppCellE18.5-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal-Deuterosomal|E18.5 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.58e-0519181552e8d7dfaf1ebb6df8bf3a1f4546af59faa67657
ToppCellPBMC-Control-Lymphocyte-T/NK-NK_cell-NK_CD56bright-|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

TRAF5 SYNE1 SPTBN1 CTSW NOTCH1

2.58e-051918157a4fe96989f72159385270c712342ba3e1ca6fc3
ToppCellControl-Lymphoid_T/NK-NK_CD56bright|Control / Disease group, lineage and cell class

TRAF5 SYNE1 SPTBN1 CTSW NOTCH1

2.58e-05191815e842f29bc03ed6734b2a7b975e7830a498f2743c
ToppCellPBMC-Control-Lymphocyte-T/NK-NK_cell-NK_CD56bright|Control / Location, Disease Group, Cell group, Cell class (2021.03.09)

TRAF5 SYNE1 SPTBN1 CTSW NOTCH1

2.58e-05191815c023ca893ceae19b54967096f6e2588dc39fa268
ToppCellmetastatic_Brain-T/NK_cells-Exhausted_CD8+_T|T/NK_cells / Location, Cell class and cell subclass

BICDL1 RAB27A CNN2 CTSW TNS3

2.58e-051918152ffd40ebf1d63e61a97208ddcbeb6a86e409f9d8
ToppCellBronchial_Biopsy-Epithelial-Ciliated_1|Bronchial_Biopsy / Tissue, Lineage and Cell class of Lung Cells from 10X

CFAP91 ZMYND10 C21orf58 SYNE1 DRC1

2.65e-05192815be592e661367affced9ebe80849b466e6adb3a34
ToppCellPND03-Epithelial-Epithelial_Airway-Ciliated/Deuterosomal|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.65e-05192815b5cdc2dae3154b1e4ade88f841f38584402ffe33
ToppCellPND03-Epithelial-Epithelial_Airway|PND03 / Age_group by Lineage, Lineage_subclass, Cell_type, subtypes-by-prolif

CFAP91 KIF27 ZMYND10 C21orf58 DRC1

2.65e-051928152d8d5a38e205339eda9c8aca1ca9ba3dcbe5ae56
ToppCellBronchial_Biopsy-Epithelial-Ciliated_1|Epithelial / Tissue, Lineage and Cell class of Lung Cells from 10X

CFAP91 ZMYND10 C21orf58 SYNE1 DRC1

2.71e-051938150b62a6ddd7c42efd9f39781971d1438501e1fa8d
ToppCellBALF-PFMC-Severe-critical_progression_d12-22_no-steroids-Lymphocytic-Lymphocytic_T-CD8-positive,_alpha-beta_T_cell|Severe-critical_progression_d12-22_no-steroids / Compartment, severity and other cell annotations on 10x 3' data (130k)

BICDL1 GRK2 DEF6 RAB27A CTSW

2.71e-0519381500349d176fb6a46cbcc99c41d975651b6e9aaad4
ToppCellBronchial_Brush-Epithelial-Ciliated_1|Bronchial_Brush / Tissue, Lineage and Cell class of Lung Cells from 10X

CFAP91 ZMYND10 C21orf58 SYNE1 DRC1

2.78e-05194815b4ce60c06568123008b1081d644733cb91c28f51
ToppCellBronchial_Brush-Epithelial-Ciliated_1|Epithelial / Tissue, Lineage and Cell class of Lung Cells from 10X

CFAP91 ZMYND10 C21orf58 SYNE1 DRC1

2.78e-051948157a7ddccfe72a4a0dc4d1a5c809988f0069f9f1a3
ToppCellT_cells-GZMK+_T_cells|T_cells / Immune cells in Rheumatoid Arthritis Joint Synovial Tissues

GRK2 SYNE1 ENPP4 RAB27A CTSW

2.85e-05195815003ea7ddec6c1c98d2f6470bb51ebd97450eb936
ToppCellcontrol-Lymphocytic-CD8_T_cells|Lymphocytic / Cohort 2 (Rhapsody WB + PBMC) with disease condition, lineage and cell classs

BICDL1 CACNA2D2 SYNE1 RAB27A CTSW

2.85e-0519581555b9052336cab3e769a126ecaeef267d8e7bcaa8
ToppCellmild-dn_T|mild / Cohort 1 (10x PBMC) with disease condition, cell group and cell class

RNF167 TRAF5 SPTBN1 DEF6 RAB27A

2.85e-05195815158f0f229bad71cc9b06b7399168982bbbbd1d47
ToppCellNS-control-d_0-4-Epithelial-Ciliated|d_0-4 / Location, Severity, dps_group, Lineage and Cell class of Upper airway (combined)

CFAP91 ZMYND10 C21orf58 SYNE1 DRC1

2.92e-05196815d46ab80554dd3c1cc81e1938ea2acfd5e85c6d2a
ToppCellBAL-Severe-Lymphocyte-T/NK-CD8+_T-CD8+_T_activated-|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

SYNE1 DEF6 RAB27A CNN2 CTSW

2.99e-05197815adc7bf2120fad4aea58123d882a8cf18ed4174d0
ToppCellcontrol-Epithelial-Ciliated|Epithelial / Severity, Lineage and Cell class of Nasopharyngeal (NS) Samples from Patients and Controls

CFAP91 ZMYND10 C21orf58 SYNE1 DRC1

2.99e-05197815e453d085182364ca347cbcc9dc995c62c3353016
ToppCellmild-Lymphocytic-CD8_T_cells|Lymphocytic / Cohort 2 (Rhapsody WB + PBMC) with disease condition, lineage and cell classs

RNF167 CACNA2D2 SYNE1 RAB27A CTSW

2.99e-051978158b0e4012e25641c3bcd3e9911031e43d9dbbff21
ToppCellcontrol-Epithelial-Ciliated|control / Severity, Lineage and Cell class of Nasopharyngeal (NS) Samples from Patients and Controls

CFAP91 ZMYND10 C21orf58 SYNE1 DRC1

2.99e-05197815d4e963c1f82996371bf3d63578ee9fce8e00c5a8
ToppCellBAL-Severe-Lymphocyte-T/NK-CD8+_T-CD8+_T_activated|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

SYNE1 DEF6 RAB27A CNN2 CTSW

2.99e-05197815e133bd09efc6d7f539fc1a1ac7a945f07103d6e6
ToppCellSevere_COVID-19-T/NK-CD4+_T_2|Severe_COVID-19 / Disease group,lineage and cell class (2021.01.30)

RNF167 TRAF5 DEF6 RAB27A CNN2

3.07e-05198815c8c9343c19198b6534f8f07e74405e29b3a164bf
ToppCellSomatosensory_Cortex_(S1)-Neuronal|Somatosensory_Cortex_(S1) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

SPTBN4 CNTNAP5 SYNE1 LRRC7 SLC12A5

3.07e-05198815c01091ef18e096d792ea2a7a715764a5b215355f
ToppCellprimary_auditory_cortex_(A1C)-Neuronal|primary_auditory_cortex_(A1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

SPTBN4 CNTNAP5 SYNE1 LRRC7 SLC12A5

3.07e-051988156d18b45eda4014759e6dd282d78ffd28df8a6044
ToppCellerythropoietic-Basophilic_Erythroblast|World / Lineage and Cell class

ANK1 NECAB1 ATAD3A SPTA1 PGAP4

3.07e-05198815b3db4db02c0e659163cefb3d83f53e4940cc04bf
ToppCell10x3'2.3-week_17-19-Myeloid_neutrophil-granulo-neutrophil-myelocyte|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

SYNE1 ENPP4 AGPS RAB27A CNN2

3.07e-051988153bc05b8d97a7219af40db7a11aa271f02e74fca5
Diseasehereditary spherocytosis type 1 (implicated_via_orthology)

ANK1 SPTA1

4.34e-054802DOID:0110916 (implicated_via_orthology)
Diseasespinocerebellar ataxia type 5 (implicated_via_orthology)

SPTBN4 SPTBN1

4.34e-054802DOID:0050882 (implicated_via_orthology)
Diseasehereditary spherocytosis (is_implicated_in)

ANK1 SPTA1

7.22e-055802DOID:12971 (is_implicated_in)
DiseaseHereditary spherocytosis

ANK1 SPTA1

7.22e-055802cv:C0037889
DiseaseAnemia, hereditary spherocytic hemolytic

ANK1 SPTA1

7.22e-055802C0221409
DiseasePrimary ciliary dyskinesia

ZMYND10 DRC1 NME8

1.28e-0436803cv:C0008780
DiseaseHereditary spherocytosis

ANK1 SPTA1

2.01e-048802C0037889
DiseaseScoliosis, unspecified

ATAD3A NOTCH1

2.01e-048802C0036439
DiseaseCongenital Abnormality

GRK2 NOTCH1

3.93e-0411802C0000768
DiseaseSarcomatoid Renal Cell Carcinoma

SPTBN4 DNHD1 IL6 CNN2

4.14e-04128804C1266043
DiseaseChromophobe Renal Cell Carcinoma

SPTBN4 DNHD1 IL6 CNN2

4.14e-04128804C1266042
DiseaseCollecting Duct Carcinoma of the Kidney

SPTBN4 DNHD1 IL6 CNN2

4.14e-04128804C1266044
DiseasePapillary Renal Cell Carcinoma

SPTBN4 DNHD1 IL6 CNN2

4.14e-04128804C1306837
DiseaseRenal Cell Carcinoma

SPTBN4 DNHD1 IL6 CNN2

4.14e-04128804C0007134
Diseaseintracranial aneurysm (is_implicated_in)

KMT2D IL6

4.71e-0412802DOID:10941 (is_implicated_in)
DiseaseCharcot-Marie-Tooth Disease

SETX LRSAM1

4.71e-0412802C0007959
Diseaseiron deficiency anemia (biomarker_via_orthology)

ATP7A IL6

5.55e-0413802DOID:11758 (biomarker_via_orthology)
DiseaseConventional (Clear Cell) Renal Cell Carcinoma

SPTBN4 DNHD1 IL6 CNN2

7.15e-04148804C0279702
Diseaseimpotence (implicated_via_orthology)

GRK2 IL6

7.45e-0415802DOID:1875 (implicated_via_orthology)
DiseaseTremor, Rubral

ATP7A CACNA2D2

8.50e-0416802C0750940
DiseaseAtaxia, Appendicular

ATP7A CACNA2D2

8.50e-0416802C0750937
DiseaseAtaxia, Motor

ATP7A CACNA2D2

8.50e-0416802C0278161
Diseaseidiopathic scoliosis (implicated_via_orthology)

MBTPS1 ZMYND10

8.50e-0416802DOID:0060250 (implicated_via_orthology)
DiseaseAtaxia, Sensory

ATP7A CACNA2D2

8.50e-0416802C0240991
DiseaseT-Cell Lymphoma

KMT2D ASXL3

8.50e-0416802C0079772
DiseaseAbnormal coordination

ATP7A CACNA2D2

8.50e-0416802C0520966
DiseaseAtaxia, Truncal

ATP7A CACNA2D2

8.50e-0416802C0427190
Diseasealpha-tocopherol measurement

CFAP20DC IL6

1.34e-0320802EFO_0007898
Diseaseblood pressure

CNTNAP5 SYNE1

1.62e-0322802EFO_0004325
Diseaseage at voice drop

CACNA2D2 JHY

1.62e-0322802EFO_0007888
DiseaseHuntington's disease (is_implicated_in)

HAP1 IL6

1.77e-0323802DOID:12858 (is_implicated_in)
DiseaseAtaxia

ATP7A CACNA2D2

2.09e-0325802C0004134
DiseaseHeart valve disease

RIPK3 NOTCH1

2.26e-0326802C0018824
DiseaseMalignant neoplasm of breast

KMT2D ANK1 SYNE1 PPP1R12B ANKRD30A LRRC7 IL6 NME8 NOTCH1

2.48e-031074809C0006142
DiseaseGeneralized seizures

ATP7A IL6 SLC12A5

2.64e-03101803C0234533
DiseaseClonic Seizures

ATP7A IL6 SLC12A5

2.64e-03101803C0234535
DiseaseConvulsive Seizures

ATP7A IL6 SLC12A5

2.64e-03101803C0751494
DiseaseSeizures, Sensory

ATP7A IL6 SLC12A5

2.64e-03101803C0751496
DiseaseNon-epileptic convulsion

ATP7A IL6 SLC12A5

2.64e-03101803C0751056
DiseaseAtonic Absence Seizures

ATP7A IL6 SLC12A5

2.64e-03101803C0751123
DiseaseComplex partial seizures

ATP7A IL6 SLC12A5

2.64e-03101803C0149958
DiseaseSingle Seizure

ATP7A IL6 SLC12A5

2.64e-03101803C0751110
DiseaseNonepileptic Seizures

ATP7A IL6 SLC12A5

2.64e-03101803C3495874
DiseaseVisual seizure

ATP7A IL6 SLC12A5

2.64e-03101803C0270824
DiseaseEpileptic drop attack

ATP7A IL6 SLC12A5

2.64e-03101803C0270846
DiseaseVertiginous seizure

ATP7A IL6 SLC12A5

2.64e-03101803C0422855
DiseaseGustatory seizure

ATP7A IL6 SLC12A5

2.64e-03101803C0422854
DiseaseSeizures, Somatosensory

ATP7A IL6 SLC12A5

2.64e-03101803C0422850
DiseaseOlfactory seizure

ATP7A IL6 SLC12A5

2.64e-03101803C0422853
DiseaseSeizures, Auditory

ATP7A IL6 SLC12A5

2.64e-03101803C0422852
DiseaseGeneralized Absence Seizures

ATP7A IL6 SLC12A5

2.64e-03101803C4505436
DiseaseJacksonian Seizure

ATP7A IL6 SLC12A5

2.64e-03101803C0022333
DiseaseEpileptic Seizures

ATP7A IL6 SLC12A5

2.64e-03101803C4317109

Protein segments in the cluster

PeptideGeneStartEntry
QWKNVELNIHLTMNE

GRK3

176

P35626
NLQHRMQLQCDWNTS

ERVK13-1

366

Q9NX77
LANQINDLRQTVIWM

ERVK-9

521

Q9UKH3
QVMERVQQAVWEHQR

ARSL

536

P51690
QQHTMQHWARRLEQE

CACNA2D2

66

Q9NY47
WHMDQQNRQGLRDLV

APOBEC1

121

P41238
TWNDNQLQEMAQLRI

ATG16L1

76

Q676U5
LNLWVIREGQNANME

ANK1

1451

P16157
VQDAVQQHQQKMCWL

ATAD3A

606

Q9NVI7
LQSKNMWLQQQLVHA

ANKRD30A

1326

Q9BXX3
NTNNWREIPENLMDQ

ANPEP

736

P15144
HVQNECWNLSQQLMT

DNHD1

796

Q96M86
NLSQQLEAWQDDMHR

BICDL1

511

Q6ZP65
QEWLNKHSMQNRIVH

ASXL3

1876

Q9C0F0
QWKNVELNIHLTMND

GRK2

176

P25098
NQNEVNMKHLNARWS

CFAP91

306

Q7Z4T9
EWMIRNGLVINNDVN

ATP7A

1186

Q04656
SFLNVRNWISQLQMH

RAB27A

106

P51159
WNRFILTQLHQDMQE

PAN2

616

Q504Q3
RQWTQQHLDAADLRM

NOTCH1

1841

P46531
DSWLTQIMEQHQQAL

JHY

561

Q6NUN7
RQVAQTLQADVLWQM

MBTPS1

191

Q14703
IQNLRELWMDNNALQ

LRRC7

206

Q96NW7
ERFQQILSWQQMDQN

LRSAM1

426

Q6UWE0
MQNLHTLWLQRNEIT

LRRC39

221

Q96DD0
QHKLQEWFNMIQEVR

KIF27

436

Q86VH2
EERLNNITMWLNNSN

ENPP4

161

Q9Y6X5
LVQLINQWKQAAQMH

FRYL

641

O94915
WHLNQMSQEFLQQSL

PGAP4

56

Q9BRR3
VQSQLQAMQENVERW

LAMA5

2646

O15230
QELWEMLNTQQLHCA

DRC1

151

Q96MC2
LDMNTLQALQQLLQW

MED16

606

Q9Y2X0
ERTWLLHDAIQNQQN

PASD1

386

Q8IV76
EMKNRQVNHARNIWD

CRNKL1

286

Q9BZJ0
QRQQMREQQWLQLQD

C16orf96

951

A6NNT2
LSIWAMQLALQQQQH

GBA2

881

Q9HCG7
LANQINDLRQTVIWM

ERVK-24

411

P61566
LANQINDLRQTVIWM

ERVK-7

411

P61567
AQVHQLVLQNWMLKA

C21orf58

251

P58505
HLDMNYVLQQLANWQ

HAP1

621

P54257
QRWLDEQQQIMESLN

CENPK

126

Q9BS16
WIQDFIMLQNNEHRI

CTSW

236

P56202
QDIMQRSQWQRAQLE

CC2D1A

881

Q6P1N0
ASTNVKHWNVQMNRL

DEF6

536

Q9H4E7
LANQINDLRQTVIWM

ERVK-21

521

P61565
RENQKNLESVMNWQQ

KCNMB4

121

Q86W47
LLMTEQNWANQAAER

GJA3

321

Q9Y6H8
DSNAQQWLQMDLGNR

CNTNAP5

71

Q8WYK1
LTKLQAQNQWLQDMT

IL6

176

P05231
AQNQWLQDMTTHLIL

IL6

181

P05231
EWENLNQSNVRRMHT

SLC12A5

1061

Q9H2X9
NQWNVVAINVLMHDS

KBTBD12

581

Q3ZCT8
EEMSCQVLQWQKQHQ

PMFBP1

816

Q8TBY8
NEIRQAQVQWLMEEN

RTL3

16

Q8N8U3
LTAERMAEWIQQNNI

USP9X

381

Q93008
SQEMDAGLQAWQLRQ

MRPL52

81

Q86TS9
VNMRWNNLLEEIAEQ

SYNE1

7216

Q8NF91
LDHLMNEEQQLLWQE

NIN

1841

Q8N4C6
LLWQENERLQTMVQN

NIN

1851

Q8N4C6
HKEMIFNLQNVLEQW

TDRD12

706

Q587J7
TENQRLRQENQMWNR

HEXIM2

261

Q96MH2
VHNVNSNELLNMVWN

RNF167

111

Q9H6Y7
RTLMENQHWNQLIQD

SETX

2426

Q7Z333
TQTWVRQQQMVVAHQ

TNS3

586

Q68CZ2
QLVELWNLVFMQHNR

AARS2

236

Q5JTZ9
WLEAQVHQLLQMVNQ

TRAF5

321

O00463
KMWENRQNLLSQSHA

SPTBN1

1156

Q01082
QLWNIFNQVTMHSQD

GTF3C3

701

Q9Y5Q9
AQWQDINEMNELNIS

ANKDD1B

256

A6NHY2
SQMNRILWVDENNLT

AGPS

261

O00116
ESELQMLASLRWQQN

CFAP20DC

546

Q6ZVT6
NRSMQNWHQLENLSN

CNN2

76

Q99439
QDMQLLWEKAVQQHQ

SUGP1

466

Q8IWZ8
QIQQWEQNLEKFHMD

TIAM2

676

Q8IVF5
QTVINNQSLWDEMLQ

NME8

11

Q8N427
NQHSRNDVMVSEWLN

RIPK3

336

Q9Y572
QLRAQQWMQKLHDQL

SPTBN4

1291

Q9H254
MHLFGLNWQLQQTEN

TENM3

331

Q9P273
QWDQLYQLGLRMQHN

SPTA1

2241

P02549
DMQKQRVVSWLSQHN

PITPNM3

786

Q9BZ71
QQVRHNWETMTKAIQ

TXNRD3

236

Q86VQ6
NMEQLLQEAEHWSKQ

SPZ1

246

Q9BXG8
GWNQQHENLEKLNMQ

ZMYND10

31

O75800
CRQHLIWNNMELEND

ZFAND4

66

Q86XD8
EEWLFHTQQLLQMQL

KMT2D

3511

O14686
EEQQMLQDARQWLNS

PPP1R12B

191

O60237
GLLEEDNQWMTQINR

NECAB1

206

Q8N987