Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctioncytoskeleton-nuclear membrane anchor activity

SYNE1 SYNE2 SUN1

1.66e-075523GO:0140444
GeneOntologyMolecularFunctionprotein-membrane adaptor activity

SYNE1 SYNE2 SUN1

2.19e-0445523GO:0043495
GeneOntologyMolecularFunctioncytoskeletal protein binding

MYO7A SYNE1 INPPL1 SYNE2 CEP135 TAOK1 KIFC3 JAKMIP2 KIF24 TTLL7

4.67e-0410995210GO:0008092
GeneOntologyMolecularFunctiontubulin binding

CEP135 TAOK1 KIFC3 JAKMIP2 KIF24 TTLL7

8.28e-04428526GO:0015631
GeneOntologyMolecularFunctionlamin binding

SYNE1 SUN1

1.11e-0319522GO:0005521
GeneOntologyBiologicalProcessnuclear migration

SYNE1 SYNE2 SLIT1 SUN1

1.84e-0634544GO:0007097
GeneOntologyBiologicalProcesscentrosome localization

SYNE1 SYNE2 SUN1 ASPM

2.07e-0635544GO:0051642
GeneOntologyBiologicalProcessmicrotubule organizing center localization

SYNE1 SYNE2 SUN1 ASPM

2.32e-0636544GO:0061842
GeneOntologyBiologicalProcessnucleus localization

SYNE1 SYNE2 SLIT1 SUN1

5.27e-0644544GO:0051647
GeneOntologyBiologicalProcessnucleokinesis involved in cell motility in cerebral cortex radial glia guided migration

SYNE2 SUN1

2.01e-053542GO:0021817
GeneOntologyBiologicalProcessnuclear matrix anchoring at nuclear membrane

SYNE1 SUN1

2.01e-053542GO:0090292
GeneOntologyBiologicalProcessnuclear matrix organization

SYNE1 SUN1

4.02e-054542GO:0043578
GeneOntologyBiologicalProcessmodulation of microtubule cytoskeleton involved in cerebral cortex radial glia guided migration

SYNE2 SUN1

6.69e-055542GO:0021815
GeneOntologyBiologicalProcessnuclear migration along microtubule

SYNE2 SUN1

6.69e-055542GO:0030473
GeneOntologyBiologicalProcesscell motility involved in cerebral cortex radial glia guided migration

SYNE2 SUN1

1.40e-047542GO:0021814
GeneOntologyBiologicalProcessregulation of cilium assembly

SYNE1 SYNE2 CEP135 KIF24

1.84e-04108544GO:1902017
GeneOntologyBiologicalProcessorganelle localization

NOP9 VPS33B MYO7A SYNE1 SYNE2 SLIT1 SUN1 ASPM

4.55e-04703548GO:0051640
GeneOntologyCellularComponentmicrotubule organizing center attachment site

SYNE1 SYNE2 SUN1

2.65e-0611543GO:0034992
GeneOntologyCellularComponentmeiotic nuclear membrane microtubule tethering complex

SYNE1 SYNE2 SUN1

2.65e-0611543GO:0034993
GeneOntologyCellularComponentnuclear membrane protein complex

SYNE1 SYNE2 SUN1

2.65e-0611543GO:0106083
GeneOntologyCellularComponentnuclear membrane microtubule tethering complex

SYNE1 SYNE2 SUN1

2.65e-0611543GO:0106094
GeneOntologyCellularComponentpreribosome, small subunit precursor

NOP9 FTSJ3

6.73e-0415542GO:0030688
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN3A SCN4A

8.69e-0417542GO:0001518
HumanPhenoScapular winging

SYNE1 SPEG DSTYK SYNE2 SCN4A

2.35e-0599195HP:0003691
HumanPhenoAbnormal scapula morphology

SYNE1 SPEG DSTYK INPPL1 SYNE2 SCN4A

3.42e-05181196HP:0000782
HumanPhenoCentrally nucleated skeletal muscle fibers

SYNE1 SPEG SYNE2 SCN4A

5.91e-0560194HP:0003687
HumanPhenoWaddling gait

SYNE1 SPEG DSTYK SYNE2 SCN4A

8.74e-05130195HP:0002515
HumanPhenoAbnormality of the shoulder girdle musculature

SYNE1 SPEG DSTYK SYNE2 SCN4A

1.67e-04149195HP:0001435
HumanPhenoAbnormal muscle fiber emerin

SYNE1 SYNE2

1.96e-046192HP:0030116
HumanPhenoAbsent muscle fiber emerin

SYNE1 SYNE2

1.96e-046192HP:0030117
DomainIQ

IQSEC3 MYO7A SCN3A SCN4A ASPM

1.56e-0671525PF00612
DomainIQ_motif_EF-hand-BS

IQSEC3 MYO7A SCN3A SCN4A ASPM

5.05e-0690525IPR000048
DomainIQ

IQSEC3 MYO7A SCN3A SCN4A ASPM

5.93e-0693525PS50096
DomainDGCR6

DGCR6 DGCR6L

7.60e-062522PF07324
DomainGonadal

DGCR6 DGCR6L

7.60e-062522IPR010849
DomainKASH

SYNE1 SYNE2

4.55e-054522PF10541
DomainKASH

SYNE1 SYNE2

4.55e-054522IPR012315
DomainKASH

SYNE1 SYNE2

4.55e-054522PS51049
DomainKASH

SYNE1 SYNE2

4.55e-054522SM01249
DomainIQ

MYO7A SCN3A SCN4A ASPM

7.59e-0581524SM00015
DomainNa_channel_asu

SCN3A SCN4A

3.37e-0410522IPR001696
DomainNa_trans_assoc

SCN3A SCN4A

3.37e-0410522IPR010526
DomainHAT

CRNKL1 ZFC3H1

3.37e-0410522IPR003107
DomainHAT

CRNKL1 ZFC3H1

3.37e-0410522SM00386
DomainNa_trans_assoc

SCN3A SCN4A

3.37e-0410522PF06512
DomainCH

SYNE1 SYNE2 ASPM

7.87e-0465523SM00033
DomainCH

SYNE1 SYNE2 ASPM

9.77e-0470523PF00307
Domain-

SYNE1 SYNE2 ASPM

1.02e-03715231.10.418.10
DomainCH

SYNE1 SYNE2 ASPM

1.10e-0373523PS50021
DomainCH-domain

SYNE1 SYNE2 ASPM

1.19e-0375523IPR001715
DomainActinin_actin-bd_CS

SYNE1 SYNE2

1.85e-0323522IPR001589
DomainSpectrin

SYNE1 SYNE2

1.85e-0323522PF00435
DomainACTININ_2

SYNE1 SYNE2

1.85e-0323522PS00020
DomainACTININ_1

SYNE1 SYNE2

1.85e-0323522PS00019
DomainCys-rich_flank_reg_C

TRIL SLIT1 SLITRK4

2.02e-0390523IPR000483
DomainLRRCT

TRIL SLIT1 SLITRK4

2.02e-0390523SM00082
DomainLRR

TRIL SLIT1 SLITRK4 NXF1

2.35e-03201524PS51450
DomainLRRNT

TRIL SLIT1 SLITRK4

2.57e-0398523IPR000372
DomainLRRNT

TRIL SLIT1 SLITRK4

2.57e-0398523SM00013
DomainhEGF

FAT4 SLIT1

2.74e-0328522PF12661
DomainSpectrin_repeat

SYNE1 SYNE2

2.94e-0329522IPR002017
DomainLRR_1

TRIL SLIT1 SLITRK4 NXF1

3.21e-03219524PF00560
DomainSpectrin/alpha-actinin

SYNE1 SYNE2

3.57e-0332522IPR018159
DomainLRRCT

TRIL SLIT1

3.57e-0332522PF01463
DomainSPEC

SYNE1 SYNE2

3.57e-0332522SM00150
DomainFERM_N

MYO7A FRMPD2

3.80e-0333522PF09379
DomainFERM_N

MYO7A FRMPD2

3.80e-0333522IPR018979
DomainLAM_G_DOMAIN

FAT4 SLIT1

5.01e-0338522PS50025
DomainLaminin_G_2

FAT4 SLIT1

5.54e-0340522PF02210
Pubmed

The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope.

SYNE1 SYNE2 SUN1

3.54e-09354316079285
Pubmed

SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton.

SYNE1 SYNE2 SUN1

1.41e-08454316648470
Pubmed

LINC complexes mediate the positioning of cone photoreceptor nuclei in mouse retina.

SYNE1 SYNE2 SUN1

1.41e-08454323071752
Pubmed

Outer nuclear membrane protein Kuduk modulates the LINC complex and nuclear envelope architecture.

SYNE1 SYNE2 SUN1

1.41e-08454328716842
Pubmed

Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.

SYNE1 SYNE2 SUN1

1.41e-08454320108321
Pubmed

Structural requirements for the assembly of LINC complexes and their function in cellular mechanical stiffness.

SYNE1 SYNE2 SUN1

3.53e-08554318396275
Pubmed

LINC complexes form by binding of three KASH peptides to domain interfaces of trimeric SUN proteins.

SYNE1 SYNE2 SUN1

3.53e-08554322632968
Pubmed

Nesprin 1α2 is essential for mouse postnatal viability and nuclear positioning in skeletal muscle.

SYNE1 SYNE2 SUN1

4.21e-071054328533284
Pubmed

Nuclear membrane proteins with potential disease links found by subtractive proteomics.

SYNE1 SYNE2 SUN1

4.21e-071054312958361
Pubmed

A conserved KASH domain protein associates with telomeres, SUN1, and dynactin during mammalian meiosis.

SYNE1 SYNE2 SUN1

5.79e-071154322826121
Pubmed

KASH protein Syne-2/Nesprin-2 and SUN proteins SUN1/2 mediate nuclear migration during mammalian retinal development.

SYNE1 SYNE2 SUN1

1.00e-061354321177258
Pubmed

SUN1/2 and Syne/Nesprin-1/2 complexes connect centrosome to the nucleus during neurogenesis and neuronal migration in mice.

SYNE1 SYNE2 SUN1

1.27e-061454319874786
Pubmed

MKRN2 Physically Interacts with GLE1 to Regulate mRNA Export and Zebrafish Retinal Development.

TOM1L2 MYO7A SYNE2 SLIT1 SUN1 POLR2E PSMB5

1.35e-0635854732460013
Pubmed

Multiple novel nesprin-1 and nesprin-2 variants act as versatile tissue-specific intracellular scaffolds.

SYNE1 SYNE2

2.37e-06254222768332
Pubmed

Biochemical characterisation of the proteins encoded by the DiGeorge critical region 6 (DGCR6) genes.

DGCR6 DGCR6L

2.37e-06254215821931
Pubmed

Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity.

SYNE1 SYNE2

2.37e-06254217761684
Pubmed

Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle.

SYNE1 SYNE2

2.37e-06254231578382
Pubmed

Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues.

SYNE1 SYNE2

2.37e-06254211792814
Pubmed

Two functional copies of the DGCR6 gene are present on human chromosome 22q11 due to a duplication of an ancestral locus.

DGCR6 DGCR6L

2.37e-06254211157784
Pubmed

Nesprin-1 and nesprin-2 regulate endothelial cell shape and migration.

SYNE1 SYNE2

2.37e-06254224931616
Pubmed

Dysregulation of DGCR6 and DGCR6L: psychopathological outcomes in chromosome 22q11.2 deletion syndrome.

DGCR6 DGCR6L

2.37e-06254222832905
Pubmed

A mouse gene (Dgcr6) related to the Drosophila gonadal gene is expressed in early embryogenesis and is the homolog of a human gene deleted in DiGeorge syndrome.

DGCR6 DGCR6L

2.37e-0625429605865
Pubmed

Syne-1 and Syne-2 play crucial roles in myonuclear anchorage and motor neuron innervation.

SYNE1 SYNE2

2.37e-06254217267447
Pubmed

Nesprins: tissue-specific expression of epsilon and other short isoforms.

SYNE1 SYNE2

2.37e-06254224718612
Pubmed

Targeted ablation of nesprin 1 and nesprin 2 from murine myocardium results in cardiomyopathy, altered nuclear morphology and inhibition of the biomechanical gene response.

SYNE1 SYNE2

2.37e-06254224586179
Pubmed

Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy.

SYNE1 SYNE2

7.09e-06354217462627
Pubmed

Dynamics and molecular interactions of linker of nucleoskeleton and cytoskeleton (LINC) complex proteins.

SYNE2 SUN1

7.09e-06354219843581
Pubmed

Syne-1, a dystrophin- and Klarsicht-related protein associated with synaptic nuclei at the neuromuscular junction.

SYNE1 SYNE2

7.09e-06354210878022
Pubmed

Structures of FHOD1-Nesprin1/2 complexes reveal alternate binding modes for the FH3 domain of formins.

SYNE1 SYNE2

7.09e-06354233472039
Pubmed

Nesprins anchor kinesin-1 motors to the nucleus to drive nuclear distribution in muscle cells.

SYNE1 SYNE2

7.09e-06354225516977
Pubmed

The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300.

SYNE1 SYNE2

7.09e-06354212408964
Pubmed

Megabase deletions of gene deserts result in viable mice.

HTR7 TTLL7

1.42e-05454215496924
Pubmed

Mammalian sperm head formation involves different polarization of two novel LINC complexes.

SYNE1 SUN1

1.42e-05454220711465
Pubmed

The RNA-binding motif protein 15B (RBM15B/OTT3) acts as cofactor of the nuclear export receptor NXF1.

RBM15B NXF1

1.42e-05454219586903
Pubmed

Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton.

SYNE1 SYNE2

1.42e-05454219596800
Pubmed

Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness.

SYNE1 SUN1

1.42e-05454230282816
Pubmed

The SUN2-nesprin-2 LINC complex and KIF20A function in the Golgi dispersal.

SYNE2 SUN1

1.42e-05454233686165
Pubmed

Coupling of the nucleus and cytoplasm: role of the LINC complex.

SYNE2 SUN1

1.42e-05454216380439
Pubmed

Nesprin-1α-Dependent Microtubule Nucleation from the Nuclear Envelope via Akap450 Is Necessary for Nuclear Positioning in Muscle Cells.

SYNE1 SUN1

1.42e-05454228966089
Pubmed

Lem2 is essential for cardiac development by maintaining nuclear integrity.

SYNE1 SYNE2 SUN1

1.70e-053254337067297
Pubmed

Identification of Human Neuronal Protein Complexes Reveals Biochemical Activities and Convergent Mechanisms of Action in Autism Spectrum Disorders.

CRNKL1 SYNE2 CEP135 FTSJ3

1.89e-0510154426949739
Pubmed

Integration of cytogenetic with recombinational and physical maps of mouse chromosome 16.

DGCR6 DGCR6L

2.36e-05554210395793
Pubmed

Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

SYNE2 SUN1

2.36e-05554219933576
Pubmed

A molecular mechanism for LINC complex branching by structurally diverse SUN-KASH 6:6 assemblies.

SYNE1 SUN1

2.36e-05554233393904
Pubmed

Structure/function characterization of micro-conotoxin KIIIA, an analgesic, nearly irreversible blocker of mammalian neuronal sodium channels.

SCN3A SCN4A

2.36e-05554217724025
Pubmed

Structural Analysis of Different LINC Complexes Reveals Distinct Binding Modes.

SYNE1 SYNE2

3.54e-05654233058875
Pubmed

TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton.

SYNE1 SYNE2

3.54e-05654218827015
Pubmed

Functional activity of serotoninergic and melatoninergic systems expressed in the skin.

HTR7 MTNR1B

3.54e-05654212767050
Pubmed

Proteomic profiling of VCP substrates links VCP to K6-linked ubiquitylation and c-Myc function.

CRNKL1 TBC1D4 VPS33B POLR2E PSMB5 ASPM SMARCA2 NDUFB4 NXF1 FTSJ3

3.86e-051353541029467282
Pubmed

Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.

TRIL IQSEC3 SYNE1 SPEG SLIT1 DCAF5

3.98e-0540754612693553
Pubmed

SUN1 and SUN2 play critical but partially redundant roles in anchoring nuclei in skeletal muscle cells in mice.

SYNE1 SUN1

4.94e-05754219509342
Pubmed

The antiobesity factor WDTC1 suppresses adipogenesis via the CRL4WDTC1 E3 ligase.

MYO7A DIS3L POLR2E PSMB5 SMARCA2 NXF1

7.19e-0545354627113764
Pubmed

Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart.

SCN3A SCN4A

8.46e-05954215746173
Pubmed

International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels.

SCN3A SCN4A

8.46e-05954216382098
Pubmed

Identification of differential protein interactors of lamin A and progerin.

SYNE2 SUN1 PSMB5

8.77e-055554321327095
Pubmed

Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers.

CRNKL1 TBC1D4 INPPL1 POLR2E PSMB5 SMARCA2 NIT1 NDUFB4 FTSJ3

1.18e-04124754927684187
Pubmed

Meta-analysis of genome-wide association data of bipolar disorder and major depressive disorder.

FAT4 SYNE1

1.29e-041154220351715
Pubmed

LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition.

MYO7A SYNE1 CHPF JAKMIP2

1.38e-0416854430631154
Pubmed

Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease.

CRNKL1 DGCR6 DIS3L SYNE1 TAOK1 KIFC3 ZFC3H1 CHPF DCAF5

1.48e-04128554935914814
Pubmed

Comparative mapping of the DiGeorge syndrome region in mouse shows inconsistent gene order and differential degree of gene conservation.

DGCR6 DGCR6L

1.55e-04125429383280
Pubmed

Excess LINC complexes impair brain morphogenesis in a mouse model of recessive TOR1A disease.

SYNE2 SUN1

1.55e-041254229868845
Pubmed

p63 Transcription Factor Regulates Nuclear Shape and Expression of Nuclear Envelope-Associated Genes in Epidermal Keratinocytes.

SYNE2 SUN1

1.55e-041254228595999
Pubmed

Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression.

CRNKL1 SYNE1 SUN1 NXF1 FTSJ3

1.66e-0433254525693804
Pubmed

The E3 ubiquitin ligase HECTD1 contributes to cell proliferation through an effect on mitosis.

NOP9 POLR2E ASPM RBM15B ZFC3H1 NXF1 FTSJ3

1.67e-0475954735915203
Pubmed

Identifying biological pathways that underlie primordial short stature using network analysis.

CRNKL1 NOP9 SYNE1 SYNE2 SUN1 POLR2E NXF1 FTSJ3

1.72e-04102454824711643
Pubmed

Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes.

NOP9 POLR2E ASPM TAOK1 GOLPH3 CHPF

1.74e-0453354625544563
Pubmed

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

SYNE1 SYNE2 KIFC3 ZFC3H1

2.07e-0418754426460568
Pubmed

The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1.

SYNE1 SYNE2 PSMB5 RBM15B

2.53e-0419754420811636
Pubmed

Primary Autosomal Recessive Microcephalies and Seckel Syndrome Spectrum Disorders – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

CEP135 ASPM

2.80e-041654220301772
Pubmed

Systematic analysis of human protein complexes identifies chromosome segregation proteins.

CRNKL1 SYNE1 CEP135 ASPM SMARCA2 KIFC3 KIF24 NXF1

3.87e-04115554820360068
Pubmed

Cloning and comparative mapping of the DiGeorge syndrome critical region in the mouse.

DGCR6 DGCR6L

4.42e-04205429740669
Pubmed

Deficient adaptation to centrosome duplication defects in neural progenitors causes microcephaly and subcortical heterotopias.

CEP135 ASPM

4.42e-042054234237032
Pubmed

The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division.

PSMB5 ASPM

5.36e-042254226748699
Pubmed

Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

TBC1D4 ZFC3H1 JAKMIP2

5.93e-041055439628581
Pubmed

Comparative Application of BioID and TurboID for Protein-Proximity Biotinylation.

SUN1 SMARCA2 NIT1 NDUFB4 NXF1

7.14e-0445754532344865
Pubmed

Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity.

CEP135 KIF24

8.10e-042754235709258
Pubmed

Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/DiGeorge syndrome region.

DGCR6 DGCR6L

8.72e-042854210963672
Pubmed

HENA, heterogeneous network-based data set for Alzheimer's disease.

SYNE1 CEP135 ZFC3H1

8.74e-0412054331413325
Pubmed

Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization.

DGCR6 DGCR6L

1.00e-03305429405660
Pubmed

Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.

DIS3L DSTYK CEP135 TAOK1 ZFC3H1

1.00e-0349354515368895
Pubmed

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia.

CRNKL1 MYO7A SPEG SLITRK4 TAOK1

1.04e-0349754536774506
Pubmed

HSF1 phosphorylation establishes an active chromatin state via the TRRAP-TIP60 complex and promotes tumorigenesis.

FAT4 SYNE1 SYNE2 POLR2E PSMB5 NXF1

1.09e-0375454635906200
Pubmed

Phenotypic and Interaction Profiling of the Human Phosphatases Identifies Diverse Mitotic Regulators.

TBC1D4 VPS33B SYNE2 SUN1 POLR2E CEP135 FTSJ3

1.15e-03104954727880917
Pubmed

Comparative Host Interactomes of the SARS-CoV-2 Nonstructural Protein 3 and Human Coronavirus Homologs.

TOM1L2 NRM MYH16 CHPF

1.16e-0329654434186245
Pubmed

Comparative sequence analysis of 634 kb of the mouse chromosome 16 region of conserved synteny with the human velocardiofacial syndrome region on chromosome 22q11.2.

DGCR6 DGCR6L

1.21e-033354210704284
Pubmed

A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

DSTYK TAOK1

1.29e-033454224026423
Pubmed

Large-scale analysis of ion channel gene expression in the mouse heart during perinatal development.

SCN3A SCN4A KCNK3

1.33e-0313954316985003
Pubmed

Host E3 ligase HUWE1 attenuates the proapoptotic activity of the MERS-CoV accessory protein ORF3 by promoting its ubiquitin-dependent degradation.

TBC1D4 INPPL1 POLR2E PSMB5 NXF1

1.43e-0353454535032548
Pubmed

Gain of Additional BIRC3 Protein Functions through 3'-UTR-Mediated Protein Complex Formation.

CRNKL1 NOP9 VPS33B SYNE1 PSMB5 RBM15B NXF1 FTSJ3

1.51e-03142554830948266
Pubmed

Sequence-ready physical map of the mouse chromosome 16 region with conserved synteny to the human velocardiofacial syndrome region on 22q11.2.

DGCR6 DGCR6L

1.52e-033754210337614
Pubmed

The mRNA-bound proteome and its global occupancy profile on protein-coding transcripts.

CRNKL1 NOP9 SYNE1 RBM15B NXF1 FTSJ3

1.53e-0380754622681889
Cytoband17q23.3

SCN4A FTSJ3

5.78e-043054217q23.3
Cytoband15q26.1

WDR93 VPS33B

1.87e-035454215q26.1
GeneFamilySpectrin repeat containing nuclear envelope family

SYNE1 SYNE2

1.59e-0543021252
GeneFamilySodium voltage-gated channel alpha subunits

SCN3A SCN4A

9.51e-0593021203
GeneFamilyKinesins|Pleckstrin homology domain containing

KIFC3 KIF24

2.63e-0346302622
GeneFamilyAnkyrin repeat domain containing|FERM domain containing

MYO7A FRMPD2

3.10e-03503021293
GeneFamilySterile alpha motif domain containing

INPPL1 KIF24

9.33e-0388302760
ToppCellPericytes-IPF_04|World / lung cells shred on cell class, cell subclass, sample id

TRIL SPEG SLIT1 SLITRK4

3.30e-05150544dbc202bd6db4fb5c8b2abd1200e074a2a9e63a59
ToppCellFetal_29-31_weeks-Mesenchymal-vascular_smooth_muscle_cell-D062|Fetal_29-31_weeks / Lineage, Cell type, age group and donor

SPEG ASPM KCNK3 TTLL7

4.56e-0516354451dee6c21cbeca4e17d1cc386e203f0c403089e8
ToppCellPBMC_fresh-frozen-Severe-critical_progression_d12-22_no-steroids-Lymphocytic-Lymphocytic_T-CD8-positive,_alpha-beta_T_cell-T_CD8_c03-GZMK|Severe-critical_progression_d12-22_no-steroids / Compartment, severity and other cell annotations on 10x 3' data (130k)

HTR7 SYNE1 SYNE2 ASPM

5.01e-05167544abc4ba308ca3be41b0da604f5d82579fd58dff7b
ToppCellTuft-tuft-1|World / Class top

MYO7A DIS3L FAAP24 JAKMIP2

5.13e-051685448ddc2ec483ed2c6c0fb2ae521c6861ceb6d32e34
ToppCellBAL-Control-cDC_6|Control / Compartment, Disease Groups and Clusters

SLITRK4 ASPM GOLPH3 KIFC3

5.13e-0516854465ec473cff748b334c0a66e33bc34a8465fe7631
ToppCellCOVID-19-Heart-VSMC|Heart / Disease (COVID-19 only), tissue and cell type

SPEG SCN3A KCNK3 TTLL7

6.56e-05179544a69ad6912b5c10bb9f9d800f724c792341e9bab1
ToppCelldroplet-Pancreas-PANCREAS-30m-Epithelial-pancreatic_D_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

HTR7 SCN3A KCNK3 SMARCA2

6.70e-051805448bf6e8b6b45ce42f8c5f23e7cd1752ec8b3fa2d2
ToppCellfacs-Brain_Non-Myeloid-Striatum-24m-Mesenchymal-brain_pericyte|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MYO7A SYNE2 SCN3A CCDC160

7.45e-0518554438486b69c48dc5e1c4e1488208fa8954a973eccb
ToppCellfacs-Brain_Non-Myeloid-Striatum-24m-Mesenchymal-Pericyte|Brain_Non-Myeloid / Brain_Non-Myeloid_Brain_Myeloid - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MYO7A SYNE2 SCN3A CCDC160

7.45e-051855443c28b5ceba3cfdb6f7e32d5b42e03b6a81a7a658
ToppCell(5)_Pericytes|World / Cell class and subclass of bone marrow stroma cells in homeostatis

IQSEC3 HTR7 KCNK3 CCDC160

7.61e-05186544acbca8cc048d87faf859b3e77bdb38d0a3dad71c
ToppCell(5)_Pericytes-(50)_Pericytes|World / Cell class and subclass of bone marrow stroma cells in homeostatis

IQSEC3 HTR7 KCNK3 CCDC160

7.61e-0518654467b59defdd1ed3608229cc5e2a3b480d92312afa
ToppCellkidney_cells-Renal_AKI_(acute_kidney_injury)-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

TBC1D4 SYNE1 SYNE2 CCDC160

8.26e-05190544b855b8b7d3439023390ca44629c1a99f5d4c6801
ToppCellkidney_cells-Renal_AKI_(acute_kidney_injury)-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Descending_Thin_Limb_Cell_Type_1|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

TBC1D4 SYNE1 SYNE2 CCDC160

8.26e-05190544a5db902ad112a0c0a0a7f1a2e38718bb3bd11412
ToppCellsystemic_lupus_erythematosus-flare-Lymphocytic_T-CytoT_GZMH+-male|systemic_lupus_erythematosus / PBMC cell types (v2) per disease, treatment status, and sex

SYNE1 SYNE2 KIFC3 JAKMIP2

8.60e-05192544fdc741e1846cfd8ed741b160e3c611c310c5d36d
ToppCellkidney_cells-Hypertensive_with+without-CKD-Epithelial-Distal_tubule_epithelial_cell-kidney_loop_of_Henle_thick_ascending_limb_epithelial_cell-Medullary_Thick_Ascending_Limb_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

TBC1D4 SYNE2 SLITRK4 KIFC3

8.60e-05192544ee27d27e3d269764dbe8711d0b37ff9331a298a9
ToppCellMild_COVID-19|World / Disease group,lineage and cell class (2021.01.30)

TBC1D4 TRIM31 TAOK1 DGCR6L

8.78e-05193544325b0768827bf8701bfb7f686bb11fd8b1a41a5c
ToppCellFibroblasts-Pericytes|Fibroblasts / lung cells shred on cell class, cell subclass, sample id

SPEG SYNE2 KCNK3 TTLL7

9.13e-05195544c2ebc0b33bda9b35b9ef26d69e5d2c6acfdb6ff1
ToppCellPBMC_fresh-frozen-Mild-Moderate_progression_d12-25-Lymphocytic-Lymphocytic_T|Mild-Moderate_progression_d12-25 / Compartment, severity and other cell annotations on 10x 3' data (130k)

TBC1D4 HTR7 SYNE1 SYNE2

9.32e-05196544e4c76e7ad68455e51fe93ce588bcec9383f8654b
ToppCell367C-Fibroblasts-Fibroblast-K_(Pericytes)|Fibroblasts / Donor, Lineage, Cell class and subclass (all cells)

SPEG SYNE2 KCNK3 TTLL7

9.32e-051965441d94cecd378a829dd8014fc086d7fca48c953a91
ToppCell367C-Fibroblasts-Fibroblast-K_(Pericytes)-|Fibroblasts / Donor, Lineage, Cell class and subclass (all cells)

SPEG SYNE2 KCNK3 TTLL7

9.32e-05196544aacec48285bcb7ccf1b538187071885e3602cc49
ToppCellsevere-low-quality_cells|World / Cohort 1 (10x PBMC) with disease condition, cell group and cell class

SYNE1 SYNE2 SMARCA2 ZFC3H1

9.50e-0519754457ebd552f10d6278623b52a3d484d4b91ae1d028
ToppCellTracheal-NucSeq-Stromal-Myofibroblastic-Muscle_smooth_pulmonary|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

SYNE1 SPEG KCNK3 TTLL7

9.50e-05197544ac4f53acb2f8a428b0f2fab3c30a34e095a1bed7
ToppCellPBMC_fresh-frozen-Severe-critical_convalescent_d42-56-Lymphocytic-Lymphocytic_T-CD8-positive,_alpha-beta_T_cell-T_CD8_c08-IL2RB|Severe-critical_convalescent_d42-56 / Compartment, severity and other cell annotations on 10x 3' data (130k)

FAT4 SYNE1 SYNE2 JAKMIP2

9.50e-05197544bc37b8919f98dc18c2200834405f06823d965d78
ToppCellmild_COVID-19_(asymptomatic)-NK|World / disease group, cell group and cell class (v2)

FAT4 SYNE1 SYNE2 JAKMIP2

9.69e-051985447a0aac52d785037455e068e1b25de4b2bf0fff79
ToppCellSepsis-ICU-SEP-Lymphocyte-T/NK-gd_T|ICU-SEP / Disease, condition lineage and cell class

WDR93 SYNE1 SYNE2 JAKMIP2

9.69e-05198544b40899f8f5f32420fb4574069dd7afd9e7e70d91
ToppCellCOVID-19-COVID-19_Mild-Lymphocyte-T/NK-NK_activated|COVID-19_Mild / Disease, condition lineage and cell class

FAT4 SYNE1 SYNE2 JAKMIP2

1.01e-042005442281debd86e5d92e8fe0397aec9ef670800f7471
ToppCellBrain_organoid-organoid_Tanaka_cellReport-1m-Mesenchymal|1m / Sample Type, Dataset, Time_group, and Cell type.

DGCR6 SMARCA2 CHPF NDUFB4

1.01e-0420054412359a6cf2c24cd373d4db3cab4d8ee2fb4a508f
DrugB202

DGCR6 DGCR6L

5.32e-062532CID006435965
DrugAC1NE2UB

NRM SYNE1 SYNE2 SUN1

8.79e-0656534CID004635684
DrugN-(2-methyl-3-(4-(4-(4-(trifluoromethoxy)benzyloxy)piperidin-1-yl)-1,3,5-triazin-2-ylamino)phenyl)acetamide

SCN3A SCN4A

1.59e-053532ctd:C561228
DiseaseAutosomal dominant Emery-Dreifuss muscular dystrophy

SYNE1 SYNE2

1.82e-054522cv:CN293514
Diseasearthrogryposis multiplex congenita (is_implicated_in)

VPS33B SYNE1

1.82e-054522DOID:0080954 (is_implicated_in)
DiseaseAutosomal Recessive Emery-Dreifuss Muscular Dystrophy

SYNE1 SYNE2

3.04e-055522C1450051
Diseaseproline measurement, amino acid measurement

DGCR6 DGCR6L

3.04e-055522EFO_0005134, EFO_0009773
DiseaseAutosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)

SYNE1 SYNE2

3.04e-055522C0410190
DiseaseEmery-Dreifuss muscular dystrophy

SYNE1 SYNE2

4.55e-056522cv:C0410189
DiseaseMuscular Dystrophy, Emery-Dreifuss

SYNE1 SYNE2

4.55e-056522C0410189
DiseaseX-Linked Emery-Dreifuss Muscular Dystrophy

SYNE1 SYNE2

6.36e-057522C0751337
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN3A SCN4A

1.36e-0410522DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN3A SCN4A

1.36e-0410522DOID:0080422 (implicated_via_orthology)
DiseaseEmery-Dreifuss muscular dystrophy (implicated_via_orthology)

SYNE1 SYNE2

1.99e-0412522DOID:11726 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN3A SCN4A

1.99e-0412522DOID:0060170 (implicated_via_orthology)
DiseaseAutosomal recessive primary microcephaly

CEP135 ASPM

3.15e-0415522cv:C3711387
Diseasereticulocyte count

DGCR6 DSTYK SYNE2 PSMB5 KCNK3 TRIM31 USP48 DGCR6L

4.54e-041045528EFO_0007986
DiseasePrimary microcephaly

CEP135 ASPM

6.88e-0422522C0431350
DiseaseAutosomal Recessive Primary Microcephaly

CEP135 ASPM

6.88e-0422522C3711387
Diseaseanxiety disorder (implicated_via_orthology)

HTR7 SCN3A

6.88e-0422522DOID:2030 (implicated_via_orthology)
Diseaseglycerol measurement

FAT4 SMARCA2

9.64e-0426522EFO_0010115
Diseaseproline measurement

DGCR6 DGCR6L

9.64e-0426522EFO_0009773
Diseaseglucose tolerance test

TBC1D4 MTNR1B

1.04e-0327522EFO_0004307

Protein segments in the cluster

PeptideGeneStartEntry
LEAKRQNLRRALDQY

C8A

476

P07357
QNEKREYLLRQSLRG

FAT4

4221

Q6V0I7
KSLYNQRLRLQNEHR

DGCR6

76

Q14129
NRAAKLQRQHYLRQR

ASPM

2371

Q8IZT6
LQRRLLRNLVSYLKQ

RBM15B

816

Q8NDT2
RRRVLQNLKGQYVAL

NOP9

541

Q86U38
LRFRQLTKEYQALQR

JAKMIP2

476

Q96AA8
LELRQQELRARYNLS

KCNK3

41

O14649
LRNRKLRNAGNLFLV

MTNR1B

66

P49286
LNQNFRREYKRILLA

MTNR1B

311

P49286
ELLSLNLSNNRLYRL

NXF1

266

Q9UBU9
QRLSALRRYQDKRLL

DCAF5

511

Q96JK2
QLYDLLNRRKRLFAR

KIF24

366

Q5T7B8
QQDLRYLRAQLQRKL

NRM

236

Q8IXM6
YLRAQLQRKLHLLSR

NRM

241

Q8IXM6
RKRLYRIGLNLFNIN

IQSEC3

651

Q9UPP2
RLAIRAQLKREYLLQ

NDUFB4

36

O95168
RYLGRLRQNLRETQK

DSTYK

36

Q6XUX3
NIRKRLDQLGYRQTL

CEP135

11

Q66GS9
RNLYRRLLQRTQHVK

CRNKL1

696

Q9BZJ0
VQQNRSYLLRKRLRG

FRMPD2

201

Q68DX3
GRRQYNKLRNLLKDA

DIS3L

96

Q8TF46
GYRKRLVRVRNSNNL

FAAP24

71

Q9BTP7
LQARNNRALELLRKY

CCDC160

291

A6NGH7
LHYQLRNVRERLAKN

GOLPH3

166

Q9H4A6
KSLYNQRLRLQNEHR

DGCR6L

76

Q9BY27
RDNSRNSLYLQKNRR

IGHV3-16

91

A0A0C4DH30
LCLARIDLNYLRQLR

NIT1

291

Q86X76
NLRRLYLNGNQIERL

SLITRK4

426

Q8IW52
RKNAIRFNSLLRNLV

TRIM31

61

Q9BZY9
ARYKLRENQLPRIQA

POLR2E

161

P19388
AIKIQRAYRRHLLQR

SCN4A

1731

P35499
KALRLLNFQRQLRQE

SMARCA2

381

P51531
LELINKQYRRLAREN

SYNE1

8056

Q8NF91
TQLELINKQYRRLAR

SYNE2

6191

Q8WXH0
SNNQELLRKYRRELQ

KIFC3

416

Q9BVG8
NRRFQFLQKARALLD

FTSJ3

36

Q8IY81
RRNQNYLDILRLLSL

INPPL1

571

O15357
ANLLRRQRQYLELEC

TAOK1

601

Q7L7X3
IIQRNFRCYLLKQRL

SCN3A

1906

Q9NY46
RSLLQCQYRNINRKL

HTR7

396

P34969
LRLQKQQLVNGYRRF

CHPF

441

Q8IZ52
GEYAQRLQALRQRLL

SPEG

2061

Q15772
RANKNCRILQYRLRK

SOGA3

401

Q5TF21
RLGQLRRLDLQYNQI

TRIL

81

Q7L0X0
LALQYRLRHRLPNKQ

TBC1D4

931

O60343
RKQYNLQERRLSLLQ

MYH16

831

Q9H6N6
RLQRYSLSLQRENFK

WDR93

671

Q6P2C0
RNQKCYFLLQILRRI

SUN1

216

O94901
RLLARQCRIYELRNK

PSMB5

116

P28074
IRALKKRLNGNRNYR

TOM1L2

51

Q6ZVM7
PYRKLRRIDLSNNQI

SLIT1

331

O75093
RCRILRLKNQLNEDY

USP48

561

Q86UV5
QREVHRLYQRALQKL

ZFC3H1

1921

O60293
LSQKARNLQAQYDRR

VPS33B

301

Q9H267
AQRRLYGQNSIKRLL

TTLL7

396

Q6ZT98
LQRLQKALRNGSRKY

MYO7A

1871

Q13402