Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionsodium ion binding

SCN1A SCN2A SCN3A

1.73e-0514743GO:0031402
GeneOntologyMolecularFunctionsodium channel activity

SCN1A SCN2A SCN3A MCOLN1

4.11e-0552744GO:0005272
GeneOntologyMolecularFunctionvoltage-gated sodium channel activity

SCN1A SCN2A SCN3A

1.19e-0426743GO:0005248
GeneOntologyMolecularFunctionalkali metal ion binding

SCN1A SCN2A SCN3A

1.19e-0426743GO:0031420
GeneOntologyMolecularFunctioninorganic molecular entity transmembrane transporter activity

GABRE SLC32A1 ATP6V1B1 ATP6V1B2 SCN1A SCN2A SCN3A MAGT1 MCOLN1 KCNK9

4.68e-047587410GO:0015318
GeneOntologyMolecularFunctioninorganic cation transmembrane transporter activity

SLC32A1 ATP6V1B1 ATP6V1B2 SCN1A SCN2A SCN3A MAGT1 MCOLN1 KCNK9

5.02e-04627749GO:0022890
GeneOntologyMolecularFunctionmonoatomic ion transmembrane transporter activity

GABRE SLC32A1 ATP6V1B1 ATP6V1B2 SCN1A SCN2A SCN3A MAGT1 MCOLN1 KCNK9

6.64e-047937410GO:0015075
GeneOntologyMolecularFunctionmonoatomic cation transmembrane transporter activity

SLC32A1 ATP6V1B1 ATP6V1B2 SCN1A SCN2A SCN3A MAGT1 MCOLN1 KCNK9

7.57e-04664749GO:0008324
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN1A SCN2A SCN3A

2.79e-0517743GO:0001518
GeneOntologyCellularComponentsodium channel complex

SCN1A SCN2A SCN3A

1.46e-0429743GO:0034706
HumanPhenoBilateral tonic-clonic seizure with generalized onset

SLC32A1 SCN1A SCN2A ADGRG1 EXOC8

1.27e-0552315HP:0025190
HumanPhenoGeneralized cerebral atrophy/hypoplasia

SCN1A SCN2A ADGRV1

5.60e-0513313HP:0007058
HumanPhenoFocal impaired awareness seizure

SLC32A1 ATP6V1B2 SCN1A SCN2A SCN3A ADGRV1

9.01e-05126316HP:0002384
HumanPhenoDialeptic seizure

SLC32A1 ATP6V1B2 SCN1A NADK2 SCN2A SCN3A ADGRG1 ADGRV1

9.12e-05251318HP:0011146
HumanPhenoAtypical absence status epilepticus

SCN1A SCN2A ADGRV1

1.31e-0417313HP:0011151
HumanPhenoAtypical absence seizure

SLC32A1 SCN1A SCN2A ADGRV1

1.53e-0446314HP:0007270
HumanPhenoGeneralized non-convulsive status epilepticus without coma

SCN1A SCN2A ADGRV1

1.57e-0418313HP:0032860
HumanPhenoEEG with spike-wave complexes

SLC32A1 SCN1A SCN2A ADGRG1 ADGRV1

1.64e-0488315HP:0010850
HumanPhenoInfection-related seizure

SLC32A1 SCN1A SCN2A SCN3A U2AF2 ADGRV1

1.96e-04145316HP:0032892
HumanPhenoSeizure precipitated by febrile infection

SLC32A1 SCN1A SCN2A SCN3A U2AF2 ADGRV1

1.96e-04145316HP:0032894
HumanPhenoFebrile seizure (within the age range of 3 months to 6 years)

SLC32A1 SCN1A SCN2A SCN3A U2AF2 ADGRV1

1.96e-04145316HP:0002373
HumanPhenoNon-convulsive status epilepticus without coma

SCN1A SCN2A ADGRV1

2.17e-0420313HP:0032671
HumanPhenoEnterocolitis

TTC7A MYH11 OPLAH

2.17e-0420313HP:0004387
HumanPhenoAcute colitis

TTC7A MYH11 OPLAH

2.17e-0420313HP:0100282
HumanPhenoAbsent thumbnail

SLC32A1 ATP6V1B2 SCN2A

2.17e-0420313HP:0012554
HumanPhenoAtonic seizure

SLC32A1 SCN1A SCN2A ADGRG1 ADGRV1

2.23e-0494315HP:0010819
HumanPhenoTalipes valgus

SCN1A SCN2A ADGRV1

2.52e-0421313HP:0004684
HumanPhenoCortical dysplasia

SCN1A SCN2A ADGRG1 ADGRV1

3.31e-0456314HP:0002539
HumanPhenoTibial torsion

SCN1A SCN2A ADGRV1

3.33e-0423313HP:0100694
HumanPhenoIleal atresia

TTC7A MYH11

3.54e-045312HP:0011102
HumanPhenoExotropia

SLC32A1 BCORL1 ADGRG1 U2AF2 EXOC8

4.46e-04109315HP:0000577
HumanPhenoBarrett esophagus

MSR1 MYH11

5.30e-046312HP:0100580
HumanPhenoLimited knee extension

SCN1A SCN2A ADGRV1

5.41e-0427313HP:0003066
HumanPhenoStatus epilepticus without prominent motor symptoms

SCN1A SCN2A ADGRV1

5.41e-0427313HP:0031475
HumanPhenoSimple febrile seizure

SCN1A SCN2A SCN3A

5.41e-0427313HP:0011171
HumanPhenoGeneralized tonic seizure

SLC32A1 SCN1A SCN2A ADGRV1

5.53e-0464314HP:0010818
HumanPhenoGeneralized non-motor (absence) seizure

SLC32A1 SCN1A NADK2 SCN2A ADGRG1 ADGRV1

5.60e-04176316HP:0002121
HumanPhenoCarotid artery stenosis

MYH11 YY1AP1

7.39e-047312HP:0100546
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A

1.18e-066743PF11933
DomainNa_trans_cytopl

SCN1A SCN2A SCN3A

1.18e-066743IPR024583
DomainNa_channel_asu

SCN1A SCN2A SCN3A

7.02e-0610743IPR001696
DomainNa_trans_assoc

SCN1A SCN2A SCN3A

7.02e-0610743IPR010526
DomainNa_trans_assoc

SCN1A SCN2A SCN3A

7.02e-0610743PF06512
DomainV-ATPase_su_B/beta

ATP6V1B1 ATP6V1B2

1.55e-052742IPR022879
DomainATPase_V1-cplx_bsu

ATP6V1B1 ATP6V1B2

1.55e-052742IPR005723
DomainATP_synth_asu_C

ATP6V1B1 ATP6V1B2

1.54e-045742IPR000793
DomainATPase_a/bsu_AS

ATP6V1B1 ATP6V1B2

1.54e-045742IPR020003
DomainATP-synt_ab_N

ATP6V1B1 ATP6V1B2

1.54e-045742PF02874
DomainATP-synt_ab_C

ATP6V1B1 ATP6V1B2

1.54e-045742PF00306
DomainATPase_F1/V1/A1_a/bsu_N

ATP6V1B1 ATP6V1B2

1.54e-045742IPR004100
DomainATP-synt_ab

ATP6V1B1 ATP6V1B2

1.54e-045742PF00006
DomainATPASE_ALPHA_BETA

ATP6V1B1 ATP6V1B2

1.54e-045742PS00152
DomainATPase_F1/V1/A1_a/bsu_nucl-bd

ATP6V1B1 ATP6V1B2

2.30e-046742IPR000194
DomainIQ

MYH11 SCN1A SCN2A SCN3A

3.00e-0481744SM00015
DomainIQ_motif_EF-hand-BS

MYH11 SCN1A SCN2A SCN3A

4.48e-0490744IPR000048
DomainIQ

MYH11 SCN1A SCN2A SCN3A

5.08e-0493744PS50096
DomainCullin_repeat-like_dom

CUL4A EXOC8

9.96e-0412742IPR016159
DomainIon_trans_dom

SCN1A SCN2A SCN3A MCOLN1

1.09e-03114744IPR005821
DomainIon_trans

SCN1A SCN2A SCN3A MCOLN1

1.09e-03114744PF00520
DomainuDENN

DENND2C DENND2B

1.37e-0314742SM00800
DomainChannel_four-helix_dom

SCN1A SCN2A SCN3A

1.50e-0357743IPR027359
Domain-

SCN1A SCN2A SCN3A

1.50e-03577431.20.120.350
DomainuDENN

DENND2C DENND2B

1.57e-0315742PF03456
DomainUDENN

DENND2C DENND2B

1.79e-0316742PS50946
DomainDDENN

DENND2C DENND2B

1.79e-0316742PS50947
DomainDENN

DENND2C DENND2B

1.79e-0316742SM00799
DomaindDENN

DENND2C DENND2B

1.79e-0316742SM00801
DomainDENN

DENND2C DENND2B

1.79e-0316742PF02141
DomaindDENN_dom

DENND2C DENND2B

1.79e-0316742IPR005112
DomainuDENN_dom

DENND2C DENND2B

1.79e-0316742IPR005113
DomaindDENN

DENND2C DENND2B

1.79e-0316742PF03455
DomainDENN

DENND2C DENND2B

1.79e-0316742PS50211
DomainDENN_dom

DENND2C DENND2B

1.79e-0316742IPR001194
DomainIQ

MYH11 SCN1A SCN3A

2.81e-0371743PF00612
DomainEF-hand-dom_pair

S100B MYL5 SCN1A SCN3A TNNC2

5.62e-03287745IPR011992
PathwayREACTOME_MUSCLE_CONTRACTION

MYH11 MYL5 SCN1A SCN2A SCN3A TNNC2 KCNK9

2.34e-05203607M5485
PathwayWP_DRAVET_SYNDROME

SCN1A SCN2A SCN3A

2.23e-0428603M45519
PathwayREACTOME_TRANSFERRIN_ENDOCYTOSIS_AND_RECYCLING

ATP6V1B1 ATP6V1B2 MCOLN1

3.03e-0431603MM15639
PathwayREACTOME_INTERACTION_BETWEEN_L1_AND_ANKYRINS

SCN1A SCN2A SCN3A

3.03e-0431603M877
PathwayREACTOME_TRANSFERRIN_ENDOCYTOSIS_AND_RECYCLING

ATP6V1B1 ATP6V1B2 MCOLN1

3.03e-0431603M991
PathwayREACTOME_PHASE_0_RAPID_DEPOLARISATION

SCN1A SCN2A SCN3A

3.33e-0432603M27455
Pubmed

SCN1A, SCN2A and SCN3A gene polymorphisms and responsiveness to antiepileptic drugs: a multicenter cohort study and meta-analysis.

SCN1A SCN2A SCN3A

9.63e-09375323859570
Pubmed

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

SCN1A SCN2A SCN3A

9.63e-09375312610651
Pubmed

Multidrug resistance in epilepsy and polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, and SCN3A: correlation among phenotype, genotype, and mRNA expression.

SCN1A SCN2A SCN3A

9.63e-09375318784617
Pubmed

Characterization of 5' untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences.

SCN1A SCN2A SCN3A

9.63e-09375317544618
Pubmed

Early expression of sodium channel transcripts and sodium current by cajal-retzius cells in the preplate of the embryonic mouse neocortex.

SCN1A SCN2A SCN3A

9.63e-09375314973256
Pubmed

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation.

SCN1A SCN2A SCN3A

3.85e-08475317537961
Pubmed

Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

SCN1A SCN2A SCN3A

3.85e-08475335801810
Pubmed

Sodium channel expression and transcript variation in the developing brain of human, Rhesus monkey, and mouse.

SCN1A SCN2A SCN3A

3.85e-08475335031483
Pubmed

Abnormal changes in voltage-gated sodium channels subtypes NaV1.1, NaV1.2, NaV1.3, NaV1.6 and CaM/CaMKII pathway in low-grade astrocytoma.

SCN1A SCN2A SCN3A

3.85e-08475329578003
Pubmed

Use of recombinant inbred strains for studying genetic determinants of responses to alcohol.

SCN1A SCN2A SCN3A

3.85e-0847538974318
Pubmed

Three brain sodium channel alpha-subunit genes are clustered on the proximal segment of mouse chromosome 2.

SCN1A SCN2A SCN3A

9.60e-0857531679748
Pubmed

A new sodium channel alpha-subunit gene (Scn9a) from Schwann cells maps to the Scn1a, Scn2a, Scn3a cluster of mouse chromosome 2.

SCN1A SCN2A SCN3A

9.60e-0857538812438
Pubmed

Case-control association study of polymorphisms in the voltage-gated sodium channel genes SCN1A, SCN2A, SCN3A, SCN1B, and SCN2B and epilepsy.

SCN1A SCN2A SCN3A

9.60e-08575324337656
Pubmed

A 'toothache tree' alkylamide inhibits Aδ mechanonociceptors to alleviate mechanical pain.

SCN1A SCN2A SCN3A

1.92e-07675323652591
Pubmed

Report and abstracts of the Fourth International Workshop on Human Chromosome 2 Mapping 1996.

ATP6V1B1 SCN1A SCN2A SCN3A IL1B

4.75e-07717558751373
Pubmed

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

SCN1A SCN2A SCN3A

8.02e-07975316382098
Pubmed

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

SCN1A SCN2A SCN3A

8.02e-07975315746173
Pubmed

Nav1.2 haplodeficiency in excitatory neurons causes absence-like seizures in mice.

SCN1A SCN2A SCN3A

2.09e-061275330175250
Pubmed

Quantitative trait loci mapping of genes that influence the sensitivity and tolerance to ethanol-induced hypothermia in BXD recombinant inbred mice.

SCN1A SCN2A SCN3A

2.09e-06127538169823
Pubmed

Regulation of neuronal voltage-gated sodium channels by the ubiquitin-protein ligases Nedd4 and Nedd4-2.

SCN1A SCN2A SCN3A

2.71e-061375315123669
Pubmed

Confirmation of quantitative trait loci for alcohol preference in mice.

SCN1A SCN2A SCN3A

4.30e-06157539726281
Pubmed

Enhancement of cortisol-induced 11beta-hydroxysteroid dehydrogenase type 1 expression by interleukin 1beta in cultured human chorionic trophoblast cells.

HSD11B1 IL1B

4.59e-06275216469798
Pubmed

Array-CGH detection of a de novo 2.8 Mb deletion in 2q24.2-->q24.3 in a girl with autistic features and developmental delay.

SCN2A SCN3A

4.59e-06275220346423
Pubmed

Relocalization of the V-ATPase B2 subunit to the apical membrane of epididymal clear cells of mice deficient in the B1 subunit.

ATP6V1B1 ATP6V1B2

4.59e-06275217392376
Pubmed

Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis.

ATP6V1B1 ATP6V1B2

4.59e-06275229310826
Pubmed

Neuronal death and perinatal lethality in voltage-gated sodium channel alpha(II)-deficient mice.

SCN1A SCN2A

4.59e-06275210827969
Pubmed

Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population.

SCN1A SCN2A

4.59e-06275219694741
Pubmed

Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus.

SCN2A SCN3A

4.59e-06275211245985
Pubmed

Compensatory membrane expression of the V-ATPase B2 subunit isoform in renal medullary intercalated cells of B1-deficient mice.

ATP6V1B1 ATP6V1B2

4.59e-06275217898041
Pubmed

Differential expression of two sodium channel subtypes in human brain.

SCN1A SCN2A

4.59e-0627521317301
Pubmed

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

SCN2A SCN3A

4.59e-06275223016767
Pubmed

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

SCN2A SCN3A

4.59e-06275227153334
Pubmed

Electrophysiological Differences between the Same Pore Region Mutation in SCN1A and SCN3A.

SCN1A SCN3A

4.59e-06275224990319
Pubmed

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series.

SCN1A SCN2A

4.59e-06275231439038
Pubmed

Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A.

SCN1A SCN2A

4.59e-06275215249644
Pubmed

Mapping of a FEB3 homologous febrile seizure locus on mouse chromosome 2 containing candidate genes Scn1a and Scn3a.

SCN1A SCN3A

4.59e-06275227690330
Pubmed

Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome.

SCN1A SCN3A

4.59e-06275223965409
Pubmed

SCN1A and SCN2A polymorphisms are associated with response to valproic acid in Chinese epilepsy patients.

SCN1A SCN2A

4.59e-06275230693367
Pubmed

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

SCN1A SCN2A

4.59e-06275229649454
Pubmed

Changes in CSF S100B and cytokine concentrations in early-phase severe traumatic brain injury.

S100B IL1B

4.59e-06275215257081
Pubmed

Presence of serum autoantibodies to vacuolar H+ -ATPase in patients with renal tubular acidosis.

ATP6V1B1 ATP6V1B2

4.59e-06275230821427
Pubmed

Effects of SCN1A and SCN2A polymorphisms on responsiveness to valproic acid monotherapy in epileptic children.

SCN1A SCN2A

4.59e-06275233096315
Pubmed

Pathogenic function of IL-1 beta in psoriasiform skin lesions of flaky skin (fsn/fsn) mice.

TTC7A IL1B

4.59e-06275211298140
Pubmed

Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.

SCN1A SCN2A

4.59e-06275226311622
Pubmed

The developmental changes of Na(v)1.1 and Na(v)1.2 expression in the human hippocampus and temporal lobe.

SCN1A SCN2A

4.59e-06275221377452
Pubmed

Heterogeneity of vacuolar H(+)-ATPase: differential expression of two human subunit B isoforms.

ATP6V1B1 ATP6V1B2

4.59e-0627527945239
Pubmed

M6A RNA Methylation Regulates Histone Ubiquitination to Support Cancer Growth and Progression.

CUL4A RNF40

4.59e-06275235303054
Pubmed

MYC Protein Interactome Profiling Reveals Functionally Distinct Regions that Cooperate to Drive Tumorigenesis.

CUL4A KMT2B ZMAT2 BCORL1 U2AF2 YY1AP1 RNF40

8.84e-0633975730415952
Pubmed

Voltage-gated sodium channels in taste bud cells.

SCN2A SCN3A

1.37e-05375219284629
Pubmed

Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy.

SCN1A SCN2A

1.37e-05375232185219
Pubmed

Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

SCN1A SCN2A

1.37e-05375232005694
Pubmed

Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).

SCN1A SCN3A

1.37e-05375233895391
Pubmed

GAPDH-mediated posttranscriptional regulations of sodium channel Scn1a and Scn3a genes under seizure and ketogenic diet conditions.

SCN1A SCN3A

1.37e-05375227816501
Pubmed

Tissue specific expression of the splice variants of the mouse vacuolar proton-translocating ATPase a4 subunit.

ATP6V1B1 ATP6V1B2

1.37e-05375217971301
Pubmed

Nav1.2 is expressed in caudal ganglionic eminence-derived disinhibitory interneurons: Mutually exclusive distributions of Nav1.1 and Nav1.2.

SCN1A SCN2A

1.37e-05375228784306
Pubmed

CUL4A promotes proliferation and inhibits apoptosis of colon cancer cells via regulating Hippo pathway.

CUL4A YY1AP1

1.37e-05375233155207
Pubmed

Variable patterns of mutation density among NaV1.1, NaV1.2 and NaV1.6 point to channel-specific functional differences associated with childhood epilepsy.

SCN1A SCN2A

1.37e-05375232845893
Pubmed

Comparison and optimization of in silico algorithms for predicting the pathogenicity of sodium channel variants in epilepsy.

SCN1A SCN2A

1.37e-05375228518218
Pubmed

Gene-to-gene interaction between sodium channel-related genes in determining the risk of antiepileptic drug resistance.

SCN1A SCN2A

1.37e-05375219270815
Pubmed

Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells.

SCN2A SCN3A

1.37e-05375216052353
Pubmed

Association of SCN1A, SCN2A and ABCC2 gene polymorphisms with the response to antiepileptic drugs in Chinese Han patients with epilepsy.

SCN1A SCN2A

1.37e-05375225155934
Pubmed

Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy.

SCN1A SCN2A

1.37e-05375217928448
Pubmed

Disordered breathing in a mouse model of Dravet syndrome.

SLC32A1 SCN1A

1.37e-05375231025941
Pubmed

Receptor-mediated endocytosis: the intracellular journey of transferrin and its receptor.

ATP6V1B1 ATP6V1B2 MCOLN1

2.14e-05257532874839
Pubmed

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

SCN1A SCN2A

2.75e-05475226637798
Pubmed

H+-ATPase B1 subunit localizes to thick ascending limb and distal convoluted tubule of rodent and human kidney.

ATP6V1B1 ATP6V1B2

2.75e-05475229993276
Pubmed

TAU ablation in excitatory neurons and postnatal TAU knockdown reduce epilepsy, SUDEP, and autism behaviors in a Dravet syndrome model.

SLC32A1 SCN1A

2.75e-05475235476595
Pubmed

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.

SCN1A SCN2A

2.75e-05475221156207
Pubmed

V-ATPase expression in the mouse olfactory epithelium.

ATP6V1B1 ATP6V1B2

2.75e-05475218667600
Pubmed

Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family.

TUB DENND2B

2.75e-0547528612280
Pubmed

MANBA, CXCR5, SOX8, RPS6KB1 and ZBTB46 are genetic risk loci for multiple sclerosis.

RPS6KB1 SOX8

4.57e-05575223739915
Pubmed

Renal epithelial miR-205 expression correlates with disease severity in a mouse model of congenital obstructive nephropathy.

ATP6V1B1 ATP6V1B2

4.57e-05575227384406
Pubmed

Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect.

S100B SOX8

4.57e-05575215572147
Pubmed

[IL-1beta, IL-10, INF-gamma, TNF-alpha, S100beta, AMA-M2 and cell immune response in stroke].

S100B IL1B

4.57e-05575221688665
Pubmed

Extracellular release of the atheroprotective heat shock protein 27 is mediated by estrogen and competitively inhibits acLDL binding to scavenger receptor-A.

MSR1 IL1B

4.57e-05575218566345
Pubmed

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

SCN2A SCN3A

4.57e-05575217724025
Pubmed

Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer.

KIAA0930 MYCBP2 SYNJ2 DENND2B

7.22e-0510275415778465
Pubmed

Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing.

CUL4A GABRE DPYSL2 MYCBP2 SYNJ2 RPS6KB1 ADGRG1 U2AF2 ADGRV1 DENND2B HNRNPA2B1 ITFG1

7.79e-051489751228611215
Pubmed

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

SCN1A SCN2A

9.57e-05775225818041
Pubmed

Optic nerve compression and retinal degeneration in Tcirg1 mutant mice lacking the vacuolar-type H-ATPase a3 subunit.

ATP6V1B1 ATP6V1B2

9.57e-05775220711468
Pubmed

Comparative whole-genome transcriptome analysis in renal cell populations reveals high tissue specificity of MAPK/ERK targets in embryonic kidney.

ATP6V1B1 ATP6V1B2

9.57e-05775235550069
Pubmed

The E3 ubiquitin ligase protein associated with Myc (Pam) regulates mammalian/mechanistic target of rapamycin complex 1 (mTORC1) signaling in vivo through N- and C-terminal domains.

MYCBP2 RPS6KB1

9.57e-05775222798074
Pubmed

Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders.

DPYSL2 SCN2A HNRNPA2B1

1.12e-044375336950384
Pubmed

Transcription factors Sox8 and Sox10 perform non-equivalent roles during oligodendrocyte development despite functional redundancy.

S100B SOX8

1.27e-04875215102707
Pubmed

Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates.

SLC32A1 SCN1A ADGRG1 HSD11B1 ADGRV1 CTSL

1.65e-0437675624154525
Pubmed

NLRP3 inflammasomes are required for atherogenesis and activated by cholesterol crystals.

IL1B CTSL

2.04e-041075220428172
Pubmed

Actin, troponin C, Alzheimer amyloid precursor protein and pro-interleukin 1 beta as substrates of the protease from human immunodeficiency virus.

TNNC2 IL1B

2.04e-04107521907279
Pubmed

Genetic profile of patients with epilepsy on first-line antiepileptic drugs and potential directions for personalized treatment.

SCN1A SCN2A

2.04e-041075220602612
Pubmed

Frontline Science: Multiple cathepsins promote inflammasome-independent, particle-induced cell death during NLRP3-dependent IL-1β activation.

IL1B CTSL

2.04e-041075228087651
Pubmed

Common variants associated with general and MMR vaccine-related febrile seizures.

SCN1A SCN2A

2.04e-041075225344690
Pubmed

Comparative architectural aspects of regions of conserved synteny on human chromosome 11p15.3 and mouse chromosome 7 (including genes WEE1 and LMO1).

TUB DENND2B

2.04e-041075211528126
Pubmed

Strain background effects and genetic modifiers of hearing in mice.

ADGRV1 TUB

2.49e-041175216579977
Pubmed

CHD4 and the NuRD complex directly control cardiac sarcomere formation.

MYH11 TNNC2

2.99e-041275229891665
Pubmed

Cdc42 regulates epithelial cell polarity and cytoskeletal function during kidney tubule development.

ATP6V1B1 ATP6V1B2

3.52e-041375226490995
Pubmed

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

SLC32A1 S100B

4.11e-041475236573432
Pubmed

In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.

MGAM ATP6V1B1 ATP6V1B2 MYH11 PRCP NANS ADGRG1 CTSL ITFG1

4.86e-04107075923533145
Pubmed

Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins.

CUL4A SYNJ2 DENND2C RNF40

5.00e-0416975431462741
Pubmed

Comparative genomic sequencing reveals a strikingly similar architecture of a conserved syntenic region on human chromosome 11p15.3 (including gene ST5) and mouse chromosome 7.

TUB DENND2B

5.40e-041675211528127
Pubmed

Structures of a Complete Human V-ATPase Reveal Mechanisms of Its Assembly.

ATP6V1B1 ATP6V1B2

6.11e-041775233065002
Pubmed

The Presynaptic v-ATPase Reversibly Disassembles and Thereby Modulates Exocytosis but Is Not Part of the Fusion Machinery.

ATP6V1B1 ATP6V1B2

6.11e-041775228793259
Cytoband2q24.3

SCN1A SCN2A

3.11e-04167522q24.3
Cytoband9q21.33

CTSL3P CTSL

3.96e-04187529q21.33
CytobandEnsembl 112 genes in cytogenetic band chr2q24

SCN1A SCN2A SCN3A

1.21e-03127753chr2q24
CytobandXq21.1

MAGT1 TENT5D

1.35e-0333752Xq21.1
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN2A SCN3A

1.28e-0694631203
GeneFamilyV-type ATPases

ATP6V1B1 ATP6V1B2

1.55e-0323462415
GeneFamilyGuanylate cyclase receptors|DENN/MADD domain containing

DENND2C DENND2B

1.83e-0325462504
CoexpressionGSE3982_EFF_MEMORY_CD4_TCELL_VS_NKCELL_DN

S100B KIAA0930 MYH11 SCN2A U2AF2 TUB

1.93e-05198736M5575
CoexpressionTRAVAGLINI_LUNG_TREM2_DENDRITIC_CELL

MSR1 ATP6V1B2 DPYSL2 PRCP NANS GMPR HSD11B1 MCOLN1 CTSL

2.96e-05572739M41698
CoexpressionMCBRYAN_PUBERTAL_BREAST_3_4WK_UP

ATP6V1B1 MYH11 TMEM45B GMPR HSD11B1 ITFG1

2.98e-05214736M13186
ToppCellFetal_brain-fetalBrain_Zhong_nature-GW16-OPC_related-OPC|GW16 / Sample Type, Dataset, Time_group, and Cell type.

MGAM S100B ATP6V1B1 SCN1A GMPR SOX8

8.80e-071927565d9bc234f01c73b2531edf8960588d5b6cf260a7
ToppCellFetal_brain-fetalBrain_Zhong_nature-GW16-OPC_related|GW16 / Sample Type, Dataset, Time_group, and Cell type.

MGAM S100B ATP6V1B1 SCN1A GMPR SOX8

8.80e-07192756e6d115143ced6a0d9fe7c98acd3f730bac83f66b
ToppCellBAL|World / Compartment, Disease Groups and Clusters

MSR1 S100B OASL GMPR FAM20A CTSL

9.64e-07195756f59faf77fc7d7fd7ddb9d4d6d469951d5066bebb
ToppCellMild-Myeloid-Macrophages-FCN1-SPP1+|Mild / Condition, Lineage, Cell class and cell subclass

MSR1 ATP6V1B2 PRCP GMPR MCOLN1 CTSL

1.12e-06200756e5afd8e2cb2c63899d49fe17011f474d20bb06ea
ToppCell368C-Myeloid-Macrophage-SPP1+_Macrophage_4|368C / Donor, Lineage, Cell class and subclass (all cells)

MSR1 TTC7A CCNB3 SLC22A15 CTSL

7.09e-06158755f9cfb110342be3c91aba9914805332f22ba89101
ToppCellmild-Myeloid-CD14_Monocytes_3|Myeloid / Cohort 2 (Rhapsody WB + PBMC) with disease condition, lineage and cell classs

DPYSL2 KIAA0930 GMPR FAM20A CTSL

7.54e-06160755a83568cd8a0b05642bacd43a8ec443e5ce314c4d
ToppCellmild-Myeloid-CD14_Monocytes_3|mild / Cohort 2 (Rhapsody WB + PBMC) with disease condition, lineage and cell classs

DPYSL2 KIAA0930 GMPR FAM20A CTSL

8.76e-06165755a6547bb2c9c40b4878325da19b9def0ef644fa25
ToppCellrenal_cortex_nuclei-Hypertensive_with+without-CKD-Epithelial-Collecting_tubule_epithelial_cell-kidney_connecting_tubule_epithelial_cell-Connecting_Tubule_Principal_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

MSR1 TMEM45B SCN2A SCN3A SMIM5

1.44e-05183755d340ab5a77e8d819a1dfb4ca3e9a4b9bc988923c
ToppCell3'_v3-lymph-node_spleen-Myeloid_Monocytic-Nonclassical_monocytes|lymph-node_spleen / Manually curated celltypes from each tissue

MSR1 IL1B FAM20A MCOLN1 CTSL

1.56e-05186755d7da5edb2ee36f96cdd7e27eb9afcc1cbfd52bb6
ToppCell10x_5'_v1-Non-neoplastic-Myeloid-Mono-Mono_anti-infl-Z|10x_5'_v1 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

MSR1 DPYSL2 IL1B FAM20A CTSL

1.56e-05186755f73cb91e74a806858650ae97f543fc779ba4cff8
ToppCell10x_5'_v1-Non-neoplastic-Myeloid-Mono-Mono_anti-infl|10x_5'_v1 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

MSR1 DPYSL2 IL1B FAM20A CTSL

1.56e-051867558694ca16c9780729f4fba67ba20e35745f1eb4e9
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_principal_cell-Outer_Medullary_Collecting_Duct_Principal_Cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

MSR1 TMEM45B SCN2A SCN3A FAM20A

1.60e-05187755e3095455d2f255854f339f6b05fa87852af0700f
ToppCellrenal_medulla_nuclei-Hypertensive_with+without-CKD-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_principal_cell|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

MSR1 TMEM45B SCN2A SCN3A FAM20A

1.69e-051897553a295c215b5c18e7c673f92b7af5be523421682c
ToppCellcontrol-Myeloid-CD14_Monocytes_2|control / Cohort 2 (Rhapsody WB + PBMC) with disease condition, lineage and cell classs

MSR1 DPYSL2 IL1B FAM20A CTSL

1.73e-0519075547513757e0059e8370e49672a577f25ca842e98c
ToppCellMonocytes-Tissue-resident_macrophages|World / Immune cells in Kidney/Urine in Lupus Nephritis

MSR1 DPYSL2 P3H2 CHKA IL1B

1.73e-0519075507215e8f292cb54c670037aaf28393cddbe5548c
ToppCellrenal_papilla_nuclei-Adult_normal_reference-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_principal_cell-Inner_Medullary_Collecting_Duct_Cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

MGAM TMEM45B SCN2A SCN3A FAM20A

1.77e-051917553e828cffa24ded19f591a7ed6c1fe88ad57fdcac
ToppCellmild_COVID-19_(asymptomatic)-Non-classical_Monocyte|mild_COVID-19_(asymptomatic) / disease group, cell group and cell class (v2)

MSR1 KIAA0930 NANS FAM20A CTSL

1.87e-051937557839040e703877ef321494ad8926a8604729ceda
ToppCellrenal_papilla_nuclei-Adult_normal_reference-Epithelial-Collecting_tubule_epithelial_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

MGAM TMEM45B SCN2A SCN3A FAM20A

1.91e-0519475504bfc555743f7d8821439d05ae442d15e9886c59
ToppCellBAL-Severe-Myeloid-MoAM-MoAM5-|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

MSR1 GMPR IL1B MCOLN1 CTSL

1.91e-05194755c53478057674d70b79df8a3f476d15dea1925753
ToppCellBAL-Severe-Myeloid-MoAM-MoAM5|Severe / Location, Disease Group, Cell group, Cell class (2021.03.09)

MSR1 GMPR IL1B MCOLN1 CTSL

1.91e-051947552ab3f75b795a0ee4fe0f8eeba33093fcc77935f5
ToppCellrenal_papilla_nuclei-Adult_normal_reference-Epithelial-Collecting_tubule_epithelial_cell-kidney_collecting_duct_principal_cell|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

MGAM TMEM45B SCN2A SCN3A FAM20A

1.91e-0519475569bff17df4a760ccf081cf52ff04af02c14f448d
ToppCellBAL-Severe-Myeloid-MoAM-MoAM5-|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

MSR1 GMPR IL1B MCOLN1 CTSL

1.91e-051947558805c90e4284a81a6c8078f2d2417ae77b4e5c63
ToppCellBAL-Severe-Myeloid-MoAM-MoAM5|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

MSR1 GMPR IL1B MCOLN1 CTSL

1.91e-0519475586d52467b05a0018517377c9c441245501f71d91
ToppCellSevere_COVID-19-Myeloid-MoAM5|Severe_COVID-19 / Disease group,lineage and cell class (2021.01.30)

MSR1 GMPR IL1B MCOLN1 CTSL

1.96e-051957556d768454ed630e586431535400507074eea76dd1
ToppCell10x3'2.3-week_14-16-Myeloid_macrophage-stroma|week_14-16 / cell types per 3 fetal stages;per 3',per 5'

MSR1 ATP6V1B2 P3H2 MCOLN1 CTSL

2.01e-05196755bd2c2de103e28b65ea537c22f71225cb0deef1e0
ToppCell10x3'2.3-week_14-16-Myeloid_macrophage|week_14-16 / cell types per 3 fetal stages;per 3',per 5'

MSR1 ATP6V1B2 P3H2 MCOLN1 CTSL

2.01e-05196755072a4150ae521c6589b0f7cd60e975fb33715bf4
ToppCell10x_3'_v2v3-Neoplastic-Stem-like-OPC-like-OPC-like|10x_3'_v2v3 / Platform, Oncotype, Lineage, Cell_class, celltype (level4), mutation group

S100B SCN3A ADGRG1 SOX8 HNRNPA2B1

2.11e-051987553550798bfb9a426f3b28538a9778159bec2480d0
ToppCellBronchial-NucSeq-Epithelial-Epi_alveolar-AT2|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

P3H2 SCN1A SLC22A15 ADGRV1 FAM20A

2.11e-05198755f948391296c261c473d339069a6d0f20ccd6f38f
ToppCellParenchymal-NucSeq-Epithelial-Epi_alveolar-AT2|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

P3H2 SCN1A SLC22A15 ADGRV1 FAM20A

2.11e-051987552e2a4e1756bba6f4fbe529559a97d2993c890b4b
ToppCellMonocytes|World / Immune cells in Kidney/Urine in Lupus Nephritis

MSR1 DPYSL2 KIAA0930 IL1B CTSL

2.11e-051987558beccf03c9ec9cd02a96107a9d7ca9a6764c6a61
ToppCellBronchial-NucSeq-Epithelial|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

P3H2 SCN1A ADGRV1 CHKA FAM20A

2.16e-051997555f7da3eab58ace6cddb3179a415cd839d5767958
ToppCellParenchymal-NucSeq-Epithelial-Epi_alveolar|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

P3H2 SCN1A ADGRV1 CHKA FAM20A

2.16e-051997558587bd98de7767a575088afbea07a1feb4516b9b
ToppCell10x5'v1-week_17-19-Myeloid_macrophage|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

MSR1 ATP6V1B2 P3H2 MCOLN1 CTSL

2.16e-05199755980b10b81ee9dc952e3be25bd294201ce5a4ca8b
ToppCellTransverse-Macrophage-LYVE1_Macrophage|Transverse / Region, Cell class and subclass

MSR1 P3H2 IL1B FAM20A CTSL

2.16e-05199755facf79c256db5ae57bdb613e86ec90616a6f67ca
ToppCellTransverse-(6)_Macrophage-(61)_LYVE1_Macrophage|Transverse / shred on region, Cell_type, and subtype

MSR1 P3H2 IL1B FAM20A CTSL

2.16e-05199755dcc2a7f4d1fa30aaaad655dd59c5a2b039d264bf
ToppCelldistal-3-Hematologic-Alveolar_Macrophage|3 / Location, Lineage, Cell class (ontology) and Donor from 10X sequencing (macrophage renamed)

MSR1 OASL IL1B MCOLN1 CTSL

2.16e-05199755f57ba6c711e16fe46f8ddc70223576906b3a710b
ToppCellFetal_29-31_weeks-Immune-alveolar_macrophage_(MARCO_positive)|Fetal_29-31_weeks / Lineage, Cell type, age group and donor

MSR1 ATP6V1B2 SLC22A15 MCOLN1 CTSL

2.16e-0519975522001aa733273e784051b7f750e07d99aaf7a225
ToppCell10x5'v1-week_17-19-Myeloid_macrophage-stroma|week_17-19 / cell types per 3 fetal stages;per 3',per 5'

MSR1 ATP6V1B2 P3H2 MCOLN1 CTSL

2.16e-05199755cbd423c31d75f6d2f5ae85d2241641fcbe630b81
ToppCell5'-Parenchyma_lung-Immune_Myeloid-Myeloid_macrophage-alveolar_macrophage-Alveolar_macrophages-Alveolar_macrophages_L.1.0.1.1|5' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

MSR1 ATP6V1B2 OASL MCOLN1 CTSL

2.16e-05199755ad2681b71fdf9644c9e639fca4beb9be37e27638
ToppCellBronchial-10x5prime-Immune_Myeloid-Macrophage_other-Macro_CHIT1|10x5prime / Cell types per location group and 10X technology with lineage, and cell group designations

MSR1 ATP6V1B2 KIAA0930 GMPR CTSL

2.16e-0519975554a54ad983503ed515d476882d86b17d97892037
ToppCell10x_3'_v3-tissue-resident_(10x_3'_v3)-myeloid-myeloid_macrophage-macrophage|tissue-resident_(10x_3'_v3) / Per Platform+tissue_group, by lineage_subgroup, cell_group, cell_type

MSR1 ATP6V1B2 IL1B MCOLN1 CTSL

2.21e-05200755bc56d6d6d32405685e9bd553ebdbe48b8fbe6902
ToppCellnormal_Pleural_Fluid-Myeloid_cells|normal_Pleural_Fluid / Location, Cell class and cell subclass

MSR1 DPYSL2 KIAA0930 FAM20A CTSL

2.21e-05200755c87d6c59eb4e4118ef151f199b980221918444ae
ToppCellnormal_Pleural_Fluid-Myeloid_cells-Pleural_Mac|normal_Pleural_Fluid / Location, Cell class and cell subclass

MSR1 DPYSL2 KIAA0930 FAM20A CTSL

2.21e-052007551798eb621dccb4ccae18d9b3df558a6428d30542
ToppCellControl-Control-Myeloid-cDC|Control / Disease, condition lineage and cell class

DPYSL2 KIAA0930 PRCP NANS IL1B

2.21e-052007551375d199320feb85ba06e74b10df6521e790addf
ToppCell10x_3'_v3-tissue-resident_(10x_3'_v3)-myeloid-myeloid_macrophage|tissue-resident_(10x_3'_v3) / Per Platform+tissue_group, by lineage_subgroup, cell_group, cell_type

MSR1 ATP6V1B2 IL1B MCOLN1 CTSL

2.21e-05200755d08c0b10cd95bfb462792e368627b3e36582b263
ToppCellBL-critical-LOC-Myeloid-Macrophage|LOC / Location, Severity, dps_group, Lineage and Cell class of Upper airway (combined)

MSR1 S100B DPYSL2 FAM20A CTSL

2.21e-05200755dc3d5af1d4b15cc258d456f9f450550874456299
ToppCell343B-Myeloid-Macrophage-SPP1+_Macrophage_3|Myeloid / Donor, Lineage, Cell class and subclass (all cells)

MSR1 MGAM ZNF20 BCORL1

1.03e-041447545e948d4cb913ccd8f82262a1b4d20967aadab3ab
ToppCellMyeloid-Myeloid-E_(Neutrophils)|Myeloid / shred on cell class and cell subclass (v4)

MGAM BMX HSD11B1 IL1B

1.20e-041507541bffb8d86b737ac43be902d9468041aef3542f1f
ToppCelldroplet-Kidney-nan-24m-Lymphocytic-CD45____macrophage|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MSR1 BMX ADGRV1 IL1B

1.20e-0415075434774b015adecc2be56a471fda8994e89a6ad93e
ToppCellfacs-Trachea-24m-Hematologic-myeloid-tracheal_macrophage-macrophage_of_trachea|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

MSR1 ATP6V1B2 KMT2B IL1B

1.26e-04152754931c10245cde9b3290224cc1da46b2bf300b9ac2
ToppCelldroplet-Mammary_Gland-nan-3m-Myeloid|Mammary_Gland / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MSR1 PRCP OASL IL1B

1.33e-0415475412d3ecb0c4d814a91ac833fcb74db6b9dbc0a321
ToppCelldroplet-Mammary_Gland-nan-3m-Myeloid-macrophage|Mammary_Gland / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MSR1 PRCP OASL IL1B

1.33e-0415475464192a0f78021551886bbaf929916392bce451c0
ToppCelldroplet-Mammary_Gland-nan-3m-Myeloid-macrophage|Mammary_Gland / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MSR1 PRCP OASL IL1B

1.33e-0415475493ace0a42f3ea94605b13acd79659602b3a31b74
ToppCellCOVID-CD4-antiviral_CD4|COVID / Condition, Cell_class and T cell subcluster

TMEM45B LTO1 OASL SOX8

1.36e-041557547e5ae034036fe85915d38a24195501e6d3bcbfb0
ToppCellfacs-Lung-Endomucin_-18m-Myeloid-Neutrophil|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SLC32A1 MGAM BMX IL1B

1.58e-04161754e227f7b711475624cf80e77f235b1783d88d57b4
ToppCellfacs-Lung-Endomucin_-18m-Myeloid-neutrophil|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SLC32A1 MGAM BMX IL1B

1.58e-041617548280a029026c272cae9649b27575831b0dd4e242
ToppCellBronchial-10x5prime-Stromal-Schwann|10x5prime / Cell types per location group and 10X technology with lineage, and cell group designations

S100B P3H2 SLC22A15 SOX8

1.61e-04162754afffecc6c504930554aafc12c5bffa53e3c5b016
ToppCelldroplet-Lung-nan-18m-Myeloid-intermediate_monocyte|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MSR1 TTC7A PRCP IL1B

1.73e-04165754e32697321cef424c2ad4e11ee9da3e510d5ce505
ToppCellCOVID-19_Mild-PLT_0|COVID-19_Mild / Disease Group and Platelet Clusters

S100B ATP6V1B2 ZNF20 SCN1A

1.73e-04165754083a14d3b0162cee4e79f7398b8fb739582b39ff
ToppCelldroplet-Lung-nan-18m-Myeloid-Intermediate_Monocyte|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MSR1 TTC7A PRCP IL1B

1.73e-041657540fbdd043e11aa8dbff4cd3a4da1b2feb49878a09
ToppCellfacs-Lung-3m-Hematologic-myeloid-neutrophil-neutrophil|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

TTC7A SLC32A1 MGAM IL1B

1.77e-041667543195035445d35d820f5e00dd03b029730478b024
ToppCell356C-Endothelial_cells-Endothelial-F_(Lymphatics)-|356C / Donor, Lineage, Cell class and subclass (all cells)

GABRE BMX SCN3A CYP39A1

1.77e-041667545ba45407a47207ff01e4a3f9f5d91d8247fe9b6f
ToppCell356C-Endothelial_cells-Endothelial-F_(Lymphatics)|356C / Donor, Lineage, Cell class and subclass (all cells)

GABRE BMX SCN3A CYP39A1

1.77e-041667546bd5aa205b6e4b88ba9f8cd0999e2191d7d1d16c
ToppCellfacs-Lung-3m-Hematologic-myeloid-neutrophil|3m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

TTC7A SLC32A1 MGAM IL1B

1.77e-041667546b6ecd70264b6bfbd8a3a378c965702829e2ecf1
ToppCellPBMC-Control-Hematopoietic-Platelet-Platelet-plt_4|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

DENND2C SMIM5 GMPR TNNC2

1.85e-041687542d056cfbb470a088a0682576753535fb4528d48f
ToppCelldroplet-Lung-18m-Hematologic-myeloid-intermediate_monocyte|18m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype

MSR1 TTC7A PRCP IL1B

1.85e-0416875400cff4698db14e03ca1d1b409e5ed1ad23b12615
ToppCellPBMC-Control-Hematopoietic-Platelet-Platelet-plt_4|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

DENND2C SMIM5 GMPR TNNC2

1.85e-041687542f69e248c6fab1421c0081e01e1920e6ffcde344
ToppCell343B-Lymphocytic-NK_cells-NK_cell_D|NK_cells / Donor, Lineage, Cell class and subclass (all cells)

MMAA MYH11 TNNC2

1.89e-046675357fd31a25addc48793d7975eadccf4c5a41a8b03
ToppCellwk_08-11-Mesenchymal-Chondrocyte-intermediate_chondrocyte|wk_08-11 / Celltypes from embryonic and fetal-stage human lung

S100B BMX NOTUM SOX8

2.03e-04172754415d57aa6278b8c12e7a2cf9c3fa5283389fb9b0
ToppCell368C-Myeloid-Macrophage-SPP1+_Macrophage|368C / Donor, Lineage, Cell class and subclass (all cells)

MSR1 TTC7A MCOLN1 CTSL

2.07e-04173754bba8265a58f8f5659dc7b9da2fe27b15033fce34
ToppCelldroplet-Fat-Scat-21m-Endothelial-nan|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation

DENND2C ADGRG1 DENND2B EXOC8

2.07e-04173754f13124b4cf2ac1dc2895f90f5487d6ac681b0ba4
ToppCell10x5'-lymph-node_spleen-Hematopoietic_progenitors-Cycling_pre-Myeloid-2|lymph-node_spleen / Manually curated celltypes from each tissue

DPYSL2 KIAA0930 FAM20A MCOLN1

2.07e-04173754783b8fa08b9d8f597f251793eae164151662f1f9
ToppCell3'-Broncho-tracheal-Epithelial-Epithelial_transtional-secretory-nasal_mucosa_goblet_cell-Goblet_(nasal)-Goblet_(nasal)_L.0.2.0.5|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

GABRE URB1 DENND2C ADGRV1

2.36e-041797546e965e424eebef50f0202cff75f458be395cfca1
ToppCellLPS_only-Myeloid-Monocytes,_Macrophages-Monocytes-Macrophages|LPS_only / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

MSR1 OASL IL1B CTSL

2.36e-04179754dc03b9045510eb1bb934329646bb92dd06890ce9
ToppCell3'-Airway_Nasal_SMG-Epithelial-Epithelial_transtional-secretory-SMG_acinar_cell-SMG_duct-SMG_duct_L.0.6.2.0|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

ATP6V1B1 SYNJ2 NANS CHKA

2.36e-04179754ec331b1132f965581f851a3b29e62873c4140e6c
ToppCellLPS_only-Myeloid-Monocytes,_Macrophages|LPS_only / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

MSR1 OASL IL1B CTSL

2.36e-04179754330c1326ba93bb8f32559ee1cc40e357cc44ad8d
ToppCellhuman_hepatoblastoma-Tumor_cells-T6|Tumor_cells / Sample and Cell Type and Tumor Cluster (all cells)

MYH11 TMEM45B CYP39A1 KCNK9

2.36e-0417975414fc8ccb6b215063d747643f47d780d2b237eb67
ToppCellControl-Epithelial_cells-AT2|Control / group, cell type (main and fine annotations)

P3H2 SCN1A ADGRV1 FAM20A

2.41e-04180754198b19e7910b4a8cc7e820c525ab357c7f99f578
ToppCellfacs-Lung-EPCAM-24m-Myeloid-Dendritic_Cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ZNF383 SMIM5 HSD11B1 OPLAH

2.41e-041807545b7d2336ed09d07f6b8dd91c1fa9c5ade633c104
ToppCellLPS_only-Epithelial_alveolar-AT_2-AT2_Progenitor|LPS_only / V2 postpublication: Rhesus Genome Updated; Treatment groups by lineage, cell_type_level1, cell_type_level2

NANS P3H2 TNNC2 HSD11B1

2.46e-041817540513b9e6673ff7bf8e72ba123ca3794b65d10170
ToppCelldroplet-Kidney-KIDNEY-1m-Epithelial-kidney_collecting_duct_principal_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ATP6V1B1 TMEM45B ADGRG1 SMIM5

2.52e-041827542ef6889321fd0104d277518d130e19143b3af41c
ToppCelldroplet-Kidney-KIDNEY-1m-Epithelial-Epcam____kidney_collecting_duct_principal_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ATP6V1B1 TMEM45B ADGRG1 SMIM5

2.52e-0418275475608f80fd570da499891dc02f8649d5428b896c
ToppCellrenal_cortex_nuclei-Adult_normal_reference-Epithelial-Distal_tubule_epithelial_cell-kidney_distal_convoluted_tubule_epithelial_cell-Distal_Convoluted_Tubule_Cell_Type_2|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

MSR1 SCN2A SCN3A SLC22A15

2.52e-041827545f513bbb7125956eb528e3120de3fd776770a7c3
ToppCell3'-Airway_Nasal_SMG-Epithelial-Epithelial_transtional-secretory-SMG_acinar_cell|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

ATP6V1B1 NANS GMPR CHKA

2.52e-041827542f7d9c0bf7155ac376e63fc9d9542b5c3ab89f04
ToppCell3'-Airway_Nasal_SMG-Epithelial-Epithelial_transtional-secretory-SMG_acinar_cell-SMG_duct|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

ATP6V1B1 NANS GMPR CHKA

2.52e-041827549b556e44ed6aaa50ec572224f5751fb02ce63438
ToppCelldroplet-Kidney-nan-21m-Epithelial-Epcam____kidney_collecting_duct_principal_cell|Kidney / Skin_Bladder_Kidney_Mammary_Gland - method, tissue, subtissue, age, lineage, cell ontology and free annotation

ATP6V1B1 TMEM45B ADGRG1 SMIM5

2.52e-04182754fe4fb213dc0ca482b0f94097fe1b0a51fc2690e2
ToppCellfacs-Heart-LA-3m-Mesenchymal-smooth_muscle_cell|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MYH11 P3H2 SCN3A SMIM5

2.57e-041837548d45dff06a199b1369576657f7f9dc0249c5f841
ToppCellfacs-Heart-LA-3m-Mesenchymal-smooth_muscle_cell|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MYH11 P3H2 SCN3A SMIM5

2.57e-04183754421265fa15d5a028cb567bb0904e670473ef102b
ToppCell5'-GW_trimst-1-SmallIntestine-Neuronal-neuron_precursor-Neuroblast|GW_trimst-1 / Celltypes from developing, pediatric, Crohn's, & adult GI tract

S100B SCN1A ADGRG1 TNNC2

2.62e-041847547aa245b73e10fd73d292e822de6b72920aa12355
ToppCelldroplet-Pancreas-Endocrine-21m-Epithelial-pancreatic_A_cell|Pancreas / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation

SCN3A FAM20A CTSL HNRNPA2B1

2.68e-041857544e40d3103ebf4a7066b7ce300b6ef700ba0e2863
ToppCellPBMC-Severe-Hematopoietic-Platelet-Platelet-plt_4|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

DENND2C SMIM5 GMPR TNNC2

2.68e-04185754698ff44fd2d9b3ad5cea45f4cff9bfc64c559b62
ToppCellPBMC-Control-Hematopoietic-Platelet-Platelet-plt_1|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

DENND2C SMIM5 GMPR TNNC2

2.73e-04186754107bc473f5e57238390f8e0ab9f7263a8f93948c
ToppCellMegakaryocytic-erythropoietic-Megakaryo-cells-Platelet|World / Lineage, cell class and subclass

DENND2C SMIM5 GMPR TNNC2

2.73e-0418675427807334e7241c8a9aeaf6403f0fd0b001fbc0d1
ToppCell(5)_Epithelial_cells-(5)_Glands_duct|(5)_Epithelial_cells / Oesophagus cell shreds on cell class (v1) and cell subclass (v1)

ATP6V1B1 NOTUM GMPR CHKA

2.73e-04186754219b1aeca17503244fabbb780bca58f22c7c0f27
ToppCellPBMC-Control-Hematopoietic-Platelet-Platelet-plt_1|Control / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.09)

DENND2C SMIM5 GMPR TNNC2

2.73e-0418675413a9ddcf93b0c4319ab9d484af5e2056e9754caa
ToppCell(5)_Glands_duct|World / Oesophagus cell shreds on cell class (v1) and cell subclass (v1)

ATP6V1B1 NOTUM GMPR CHKA

2.73e-04186754ad8d5010e5095508f4995e0c6c016a44e8ffb8dd
ToppCellPBMC-Severe-Hematopoietic-Platelet-Platelet-plt_4|Severe / Location, Disease Group, Cell group, Cell class and sub_cluster (2021.03.01)

DENND2C SMIM5 GMPR TNNC2

2.73e-04186754981116561986f94e9cc3ee64fb37dab9a31d427a
ToppCellmetastatic_Lymph_Node-Myeloid_cells-Pleural_Mac|metastatic_Lymph_Node / Location, Cell class and cell subclass

MSR1 GMPR HSD11B1 CTSL

2.79e-0418775488fac9f23047892acccbcc355d02ff079596fedf
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Collecting_tubule_epithelial_cell-kidney_connecting_tubule_epithelial_cell-Connecting_Tubule_Principal_Cell|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

MSR1 TMEM45B SCN2A SCN3A

2.79e-04187754f6217d0dd425eac76900b44a4e48f45475f3ac36
ToppCelldroplet-Fat-SCAT-30m-Endothelial-Cd36+|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation

MYH11 SCN3A ADGRG1 TNNC2

2.85e-04188754e901a9bdf00b8e91806f445af66647373bf62661
DiseaseGeneralized Epilepsy with Febrile Seizures Plus

SCN1A SCN2A ADGRV1

1.11e-069713C3502809
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN2A SCN3A

1.58e-0610713DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN2A SCN3A

1.58e-0610713DOID:0080422 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN2A SCN3A

2.89e-0612713DOID:0060170 (implicated_via_orthology)
Diseaseanxiety disorder (implicated_via_orthology)

SCN1A SCN2A SCN3A

1.99e-0522713DOID:2030 (implicated_via_orthology)
Diseasefollicular lymphoma (implicated_via_orthology)

ATP6V1B1 ATP6V1B2

5.68e-055712DOID:0050873 (implicated_via_orthology)
DiseaseSeizure, Febrile, Simple

SCN1A SCN2A

1.19e-047712C0149886
DiseaseSeizure, Febrile, Complex

SCN1A SCN2A

1.19e-047712C0751057
Diseaserenal tubular acidosis (implicated_via_orthology)

ATP6V1B1 ATP6V1B2

1.58e-048712DOID:14219 (implicated_via_orthology)
DiseaseFebrile Convulsions

SCN1A SCN2A

2.03e-049712C0009952
DiseaseInfantile Severe Myoclonic Epilepsy

SCN1A SCN2A

4.38e-0413712C0751122
DiseaseMMR-related febrile seizures

SCN1A SCN2A

5.87e-0415712EFO_0006519
Diseaseepilepsy (implicated_via_orthology)

SCN1A SCN2A SCN3A CHKA

6.54e-04163714DOID:1826 (implicated_via_orthology)
DiseaseEarly infantile epileptic encephalopathy with suppression bursts

SCN1A SCN2A

6.70e-0416712C0393706
Diseaseotitis media (biomarker_via_orthology)

IL1B CTSL

7.58e-0417712DOID:10754 (biomarker_via_orthology)
DiseaseFebrile seizure (within the age range of 3 months to 6 years)

SCN1A SCN2A

8.52e-0418712HP_0002373
Diseaseepilepsy (biomarker_via_orthology)

S100B IL1B

1.16e-0321712DOID:1826 (biomarker_via_orthology)
DiseaseDegenerative polyarthritis

ATP6V1B2 DPYSL2 IL1B

1.48e-0393713C0029408
DiseaseOsteoarthrosis Deformans

ATP6V1B2 DPYSL2 IL1B

1.48e-0393713C0086743
Diseasenephrotic syndrome (biomarker_via_orthology)

IL1B CTSL

1.52e-0324712DOID:1184 (biomarker_via_orthology)
Diseasexanthosine measurement

P3H2 GMPR

1.65e-0325712EFO_0010549
Diseasestatus epilepticus (biomarker_via_orthology)

DPYSL2 HSD11B1 IL1B

1.83e-03100713DOID:1824 (biomarker_via_orthology)
Diseasebrain ischemia (biomarker_via_orthology)

S100B DPYSL2 CTSL

1.93e-03102713DOID:2316 (biomarker_via_orthology)
Diseasemuscular atrophy (biomarker_via_orthology)

RPS6KB1 CTSL

2.22e-0329712DOID:767 (biomarker_via_orthology)
Diseasecorneal endothelial cell measurement

ZNF20 IL1B ZNF433

2.27e-03108713EFO_0010079

Protein segments in the cluster

PeptideGeneStartEntry
SEMDVTGQAFEDMQE

RNF40

756

O75150
AAREMVFVAEQGVMA

SH3BP5L

146

Q7L8J4
AMNAFGEMTSEEFRQ

CTSL3P

21

Q5NE16
SMSEDEFFQEAQTMM

BMX

451

P51813
FAGMADSDMGSQEVF

BCORL1

1236

Q5H9F3
AFGMRGMDVVFSVFQ

ADGRV1

3246

Q8WXG9
GPSEENFDMEAFTEM

CUEDC2

46

Q9H467
GTMEDMTFAEQFVAQ

HSD11B1

91

P28845
FMESQMFAGFIQDRE

DENND2B

1076

P78524
QEGMQAVMASDFAVS

ATP10D

1076

Q9P241
VQDVNMEEDSFFMES

CCNB3

251

Q8WWL7
NTDVSMENMVTVGFF

KCNK9

151

Q9NPC2
SLINGDDMFVTFAAM

MCOLN1

466

Q9GZU1
DMEQQVVFSMSFVQG

IL1B

151

P01584
FAMVDFDEGSDVFQM

MAGT1

116

Q9H0U3
SFEFNDGAIASMMIN

NADK2

416

Q4G0N4
FQMPDQGMTSADDFF

DPYSL2

76

Q16555
SFGVFLMNSNAMEVV

MGAM

316

O43451
MIDSFEEVFSDMTVG

KIAA0930

166

Q6ICG6
MTAEEVDQMFQFASI

MYL5

136

Q02045
EVVMPFCTNGVDDMF

PRCP

366

P42785
FMQLEREGIFMEDTA

RPS6KB1

181

P23443
VGQSEFAVADMVDMF

MMAA

246

Q8IVH4
VGDFMVMTIFFNVSR

GABRE

261

P78334
FRMDDFDVVDATMHG

KMT2B

2631

Q9UMN6
VTEFVMMGFAGIHEA

OR6Q1

11

Q8NGQ2
MNDDFEGGEFIFTEM

P3H2

611

Q8IVL5
AMGMFVDAFSKQVFD

EXOC8

496

Q8IYI6
GNDSEEEMRFQEVFM

MSR1

101

P21757
DENFMLDEGFTTVMD

OASL

251

Q15646
FTAVEGNMDSFMAQV

NOTUM

56

Q6P988
FQGAEAMVLESVMFA

CHKA

171

P35790
MFNEGDGFSFEEIKM

CUL4A

601

Q13619
FMGDMVSFEEDRINA

ADGRG1

221

Q9Y653
DLFMETQMFAGFIQD

DENND2C

866

Q68D51
VGMEAIMSEFFNDTT

TMEM259

361

Q4ZIN3
MAGSQDIFDAIVMAD

LTO1

1

Q8WV07
VFAMGNRMTFVTEEE

CYP39A1

66

Q9NYL5
IVANMDTVGTFEMAA

GMPR

51

P36959
VVLDEADRMFDMGFE

DDX46

526

Q7L014
MEVEEAFQAVGEMGI

SLC22A15

1

Q8IZD6
DGVMQAMDEFDKSQF

FAM166A

236

Q6J272
NFAIVFAAMGVNMET

ATP6V1B2

226

P21281
FAIVFAAMGVNMETA

ATP6V1B1

221

P15313
NFVETEQMIYMDDGV

SYNJ2

231

O15056
MATIAAAAFEALMDG

TCAF2

1

A6NFQ2
MAATDFVQEMRAVGE

SMIM5

1

Q71RC9
EEVAMGFVRVANEAM

OPLAH

451

O14841
VIDMAIFDFLIGNMD

FAM20A

396

Q96MK3
VVVAESMYGDFQEAM

TENT5D

201

Q8NEK8
GIFFTASGMDEMAVE

NANS

106

Q9NR45
DGECDFQEFMAFVAM

S100B

66

P04271
GFGVENMATAMDEDL

MYCBP2

726

O75592
IDDMFNFETFGNSMI

SCN3A

1686

Q9NY46
SEVMGTMDAFDVHEF

SOX8

271

P57073
ESGVYTAVMMEEFVQ

URB1

481

O60287
IDDMFNFETFGNSMI

SCN1A

1701

P35498
GDMTSEEFRQVMNGF

CTSL

81

P07711
FQETVEAMAIMGFSE

MYH11

326

P35749
VDRLVMAVAVFMEGF

TMEM45B

116

Q96B21
MMFQDSVAFEDVAVS

ZNF20

1

P17024
MAEGSVMFSDVSIDF

ZNF383

1

Q8NA42
FVTFSSMAEVDAAMA

HNRNPA2B1

66

P22626
IDDMFNFETFGNSMI

SCN2A

1691

Q99250
DMGMQNVSFFDAESG

RFPL2

311

O75678
DGSGTIDFEEFLVMM

TNNC2

66

P02585
EGLVDEAMEMFQFSE

UBAP1L

321

F5GYI3
EAMEMFQFSESQAGE

UBAP1L

326

F5GYI3
FETFQDEMGFSNMED

YY1AP1

71

Q9H869
IPFGITEEAMMDFFN

U2AF2

156

P26368
MAQESVMFSDVSVDF

ZNF566

1

Q969W8
FAMMVISLGEEAGEF

TTC7A

471

Q9ULT0
GMFARMGFQAATDEE

SLC32A1

26

Q9H598
MMVVGQSAFADFDGD

ITFG1

256

Q8TB96
MMFQDSVAFEDVAVT

ZNF433

1

Q8N7K0
IVMQFGRVAEDVFTM

TUB

466

P50607
TFEEDDEMAAVMGFS

ZMAT2

176

Q96NC0