Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctiontransmembrane transporter activity

ABCC11 ZACN SLC22A25 GRIN1 DCD RYR2 SLC44A3 ABCB8 SCN5A SLC5A2

6.58e-0511803910GO:0022857
GeneOntologyMolecularFunctioncalmodulin binding

GRIN1 PATE4 ESR1 RYR2 SCN5A

8.12e-05230395GO:0005516
GeneOntologyMolecularFunctiontransporter activity

ABCC11 ZACN SLC22A25 GRIN1 DCD RYR2 SLC44A3 ABCB8 SCN5A SLC5A2

1.37e-0412893910GO:0005215
GeneOntologyMolecularFunctionphosphatidylinositol-3,5-bisphosphate phosphatase activity

PIKFYVE MTM1

4.38e-0416392GO:0106018
GeneOntologyMolecularFunctionphosphatidylinositol bisphosphate phosphatase activity

PIKFYVE MTM1

1.27e-0327392GO:0034593
GeneOntologyMolecularFunctionphosphatidylinositol phosphate phosphatase activity

PIKFYVE MTM1

1.56e-0330392GO:0052866
GeneOntologyMolecularFunctionligand-gated calcium channel activity

GRIN1 RYR2

1.67e-0331392GO:0099604
GeneOntologyMolecularFunctionmonoatomic ion channel activity

ZACN GRIN1 DCD RYR2 SCN5A

1.90e-03459395GO:0005216
GeneOntologyMolecularFunctionligand-gated monoatomic cation channel activity

ZACN GRIN1 RYR2

2.56e-03140393GO:0099094
GeneOntologyMolecularFunctionchannel activity

ZACN GRIN1 DCD RYR2 SCN5A

3.39e-03525395GO:0015267
GeneOntologyMolecularFunctionpassive transmembrane transporter activity

ZACN GRIN1 DCD RYR2 SCN5A

3.42e-03526395GO:0022803
GeneOntologyMolecularFunctionmonoatomic ion transmembrane transporter activity

ZACN GRIN1 DCD RYR2 SCN5A SLC5A2

4.10e-03793396GO:0015075
GeneOntologyMolecularFunctionABC-type transporter activity

ABCC11 ABCB8

4.13e-0349392GO:0140359
GeneOntologyMolecularFunctionmonoatomic cation channel activity

ZACN GRIN1 RYR2 SCN5A

4.38e-03343394GO:0005261
GeneOntologyMolecularFunctionligand-gated monoatomic ion channel activity

ZACN GRIN1 RYR2

6.29e-03193393GO:0015276
GeneOntologyMolecularFunction3'-5' exonuclease activity

DIS3L RAD9A

6.33e-0361392GO:0008408
GeneOntologyMolecularFunctionexonuclease activity, active with either ribo- or deoxyribonucleic acids and producing 5'-phosphomonoesters

DIS3L RAD9A

6.53e-0362392GO:0016796
GeneOntologyMolecularFunctionligand-gated channel activity

ZACN GRIN1 RYR2

6.66e-03197393GO:0022834
GeneOntologyMolecularFunctioncarboxylic acid transmembrane transporter activity

ABCC11 SLC22A25 GRIN1

7.63e-03207393GO:0046943
GeneOntologyMolecularFunctionorganic acid transmembrane transporter activity

ABCC11 SLC22A25 GRIN1

7.73e-03208393GO:0005342
GeneOntologyBiologicalProcessPurkinje myocyte to ventricular cardiac muscle cell communication

RYR2 SCN5A

5.47e-056402GO:0086068
GeneOntologyBiologicalProcessPurkinje myocyte to ventricular cardiac muscle cell signaling

RYR2 SCN5A

5.47e-056402GO:0086029
GeneOntologyBiologicalProcessSA node cell to atrial cardiac muscle cell signaling

RYR2 SCN5A

1.63e-0410402GO:0086018
GeneOntologyBiologicalProcessSA node cell action potential

RYR2 SCN5A

1.63e-0410402GO:0086015
GeneOntologyBiologicalProcessSA node cell to atrial cardiac muscle cell communication

RYR2 SCN5A

1.99e-0411402GO:0086070
GeneOntologyBiologicalProcessmonoatomic ion transport

ABCC11 ZACN SLC22A25 GRIN1 DCD F2RL3 RYR2 ABCB8 SCN5A SLC5A2

2.23e-0413744010GO:0006811
GeneOntologyBiologicalProcessmonoatomic ion transmembrane transport

ABCC11 ZACN GRIN1 DCD F2RL3 RYR2 ABCB8 SCN5A SLC5A2

2.28e-041115409GO:0034220
GeneOntologyBiologicalProcessAV node cell to bundle of His cell signaling

RYR2 SCN5A

2.39e-0412402GO:0086027
GeneOntologyBiologicalProcessAV node cell action potential

RYR2 SCN5A

2.39e-0412402GO:0086016
GeneOntologyBiologicalProcessAV node cell to bundle of His cell communication

RYR2 SCN5A

3.79e-0415402GO:0086067
MousePhenoabnormal myocardial fiber sodium currents

XIRP1 RYR2 SCN5A

6.43e-093273MP:0020347
MousePhenoabnormal myocardial fiber currents

XIRP1 RYR2 SCN5A

5.36e-079273MP:0020345
MousePhenoabnormal myocardial fiber calcium currents

XIRP1 RYR2

1.08e-053272MP:0020346
MousePhenothick ventricular wall

DIS3L MTHFD2 RYR2 SCN5A

2.63e-0591274MP:0002953
MousePhenoventricular fibrillation

RYR2 SCN5A

7.50e-057272MP:0006110
MousePhenoatrial fibrillation

RYR2 SCN5A

1.60e-0410272MP:0008543
MousePhenoprolonged P wave

XIRP1 SCN5A

2.34e-0412272MP:0004071
MousePhenofibrillation

RYR2 SCN5A

3.22e-0414272MP:0006109
MousePhenoreduced male mating frequency

GRIN1 ESR1

3.71e-0415272MP:0001380
MousePhenoabnormal copulatory plug deposition

PATE4 ESR1

4.24e-0416272MP:0030982
MousePhenoabnormal offspring retrieval

GRIN1 ESR1

4.80e-0417272MP:0009731
MousePhenopup cannibalization

GRIN1 ESR1

4.80e-0417272MP:0001385
MousePhenoabnormal pup retrieval

GRIN1 ESR1

4.80e-0417272MP:0001384
MousePhenosinoatrial block

XIRP1 SCN5A

5.39e-0418272MP:0010520
MousePhenoabnormal heart ventricle morphology

DOCK1 PIKFYVE XIRP1 DIS3L MTHFD2 RYR2 SCN5A

6.01e-04793277MP:0005294
DomainABC_membrane

ABCC11 ABCB8

1.03e-0324372PF00664
DomainABC_TM1F

ABCC11 ABCB8

1.40e-0328372PS50929
DomainABC1_TM_dom

ABCC11 ABCB8

1.40e-0328372IPR011527
DomainABC_transporter_CS

ABCC11 ABCB8

3.13e-0342372IPR017871
DomainABC_TRANSPORTER_2

ABCC11 ABCB8

4.07e-0348372PS50893
DomainABC_tran

ABCC11 ABCB8

4.07e-0348372PF00005
DomainABC_TRANSPORTER_1

ABCC11 ABCB8

4.24e-0349372PS00211
DomainABC_transporter-like

ABCC11 ABCB8

4.41e-0350372IPR003439
Domain-

MATN1 SEC24A

9.43e-03743723.40.50.410
DomainIGv

BTN3A3 BTN3A2

9.68e-0375372SM00406
DomainSPRY

BTN3A3 RYR2

1.29e-0287372SM00449
DomainSPRY

BTN3A3 RYR2

1.49e-0294372PF00622
DomainSPRY_dom

BTN3A3 RYR2

1.49e-0294372IPR003877
DomainB30.2/SPRY

BTN3A3 RYR2

1.52e-0295372IPR001870
DomainB302_SPRY

BTN3A3 RYR2

1.52e-0295372PS50188
PathwayREACTOME_SYNTHESIS_OF_PIPS_AT_THE_LATE_ENDOSOME_MEMBRANE

PIKFYVE MTM1

1.57e-0410272MM14644
PathwayREACTOME_SYNTHESIS_OF_PIPS_AT_THE_LATE_ENDOSOME_MEMBRANE

PIKFYVE MTM1

1.92e-0411272M655
PathwayREACTOME_BUTYROPHILIN_BTN_FAMILY_INTERACTIONS

BTN3A3 BTN3A2

2.30e-0412272M27738
PathwayREACTOME_SYNTHESIS_OF_PIPS_AT_THE_EARLY_ENDOSOME_MEMBRANE

PIKFYVE MTM1

3.65e-0415272MM14643
PathwayREACTOME_SYNTHESIS_OF_PIPS_AT_THE_EARLY_ENDOSOME_MEMBRANE

PIKFYVE MTM1

4.17e-0416272M639
Pubmed

Loss of Nav1.5 expression and function in murine atria containing the RyR2-P2328S gain-of-function mutation.

RYR2 SCN5A

1.29e-06240223723061
Pubmed

Genetic analysis in post-mortem samples with micro-ischemic alterations.

RYR2 SCN5A

1.29e-06240228086167
Pubmed

The ubiquitin ligase RNF181 stabilizes ERα and modulates breast cancer progression.

ESR1 RNF181

1.29e-06240232973333
Pubmed

Purkinje Cells as Sources of Arrhythmias in Long QT Syndrome Type 3.

RYR2 SCN5A

1.29e-06240226289036
Pubmed

Key implication of CD277/butyrophilin-3 (BTN3A) in cellular stress sensing by a major human γδ T-cell subset.

BTN3A3 BTN3A2

3.87e-06340222767497
Pubmed

Protein expression profiles in murine ventricles modeling catecholaminergic polymorphic ventricular tachycardia: effects of genotype and sex.

RYR2 SCN5A

3.87e-06340232713021
Pubmed

Discovery of genetic biomarkers contributing to variation in drug response of cytidine analogues using human lymphoblastoid cell lines.

DOCK1 URB2 DIS3L

4.53e-062840324483146
Pubmed

ERα in Tac2 Neurons Regulates Puberty Onset in Female Mice.

TAC3 ESR1

7.73e-06440226862996
Pubmed

Endosomal phosphoinositides and human diseases.

PIKFYVE MTM1

7.73e-06440218429927
Pubmed

Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.

XIRP1 SCN5A

7.73e-06440229306897
Pubmed

Primate-specific BTN3A2 protects against SARS-CoV-2 infection by interacting with and reducing ACE2.

BTN3A3 BTN3A2

7.73e-06440239142074
Pubmed

Heteromeric interactions regulate butyrophilin (BTN) and BTN-like molecules governing γδ T cell biology.

BTN3A3 BTN3A2

1.29e-05540229339503
Pubmed

PtdIns5P regulation through evolution: roles in membrane trafficking?

PIKFYVE MTM1

1.93e-05640218774718
Pubmed

The cluster of BTN genes in the extended major histocompatibility complex.

BTN3A3 BTN3A2

2.70e-05740211170752
Pubmed

Trait-associated noncoding variant regions affect TBX3 regulation and cardiac conduction.

RYR2 SCN5A

5.77e-051040232672536
Pubmed

A novel conditional mouse model for Nkx2-5 reveals transcriptional regulation of cardiac ion channels.

RYR2 SCN5A

5.77e-051040226897459
Pubmed

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis.

RYR2 MTM1

5.77e-051040218434328
Pubmed

Cardiac disease and arrhythmogenesis: Mechanistic insights from mouse models.

RYR2 SCN5A

7.05e-051140227766308
Pubmed

Developmental single-cell transcriptomics of hypothalamic POMC neurons reveal the genetic trajectories of multiple neuropeptidergic phenotypes.

TAC3 ESR1

1.53e-041640235044906
Pubmed

A 1.1-Mb transcript map of the hereditary hemochromatosis locus.

BTN3A3 BTN3A2

1.95e-04184029149941
Pubmed

Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.

DOCK1 XIRP1

2.18e-041940224564958
Pubmed

A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects.

SEMA4D KRTCAP2

2.42e-042040234127677
Pubmed

Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit.

RYR2 SCN5A

2.67e-042140228302382
Pubmed

Genetic association with overall survival of taxane-treated lung cancer patients - a genome-wide association study in human lymphoblastoid cell lines followed by a clinical association study.

CABCOCO1 RYR2

4.78e-042840223006423
Pubmed

LKB1 deletion causes early changes in atrial channel expression and electrophysiology prior to atrial fibrillation.

RYR2 SCN5A

7.07e-043440226378152
Pubmed

An investigation into the human serum "interactome".

DCD RYR2 SCN5A

8.64e-0416240315174051
Pubmed

Cfp1 Controls Cardiomyocyte Maturation by Modifying Histone H3K4me3 of Structural, Metabolic, and Contractile Related Genes.

RYR2 SCN5A

8.83e-043840238196272
Pubmed

Organization, evolution and functions of the human and mouse Ly6/uPAR family genes.

PATE4 ACRV1

8.83e-043840227098205
Cytoband11q24.2

OR10G8 PATE4 ACRV1

2.35e-056340311q24.2
CytobandEnsembl 112 genes in cytogenetic band chr11q24

OR10G8 PATE4 ACRV1

6.25e-04191403chr11q24
Cytoband17q25.3

ZACN TBCD

3.54e-0310140217q25.3
Cytoband9q34.3

GLT6D1 GRIN1

3.89e-031064029q34.3
GeneFamilyButyrophilins|V-set domain containing|C2-set domain containing

BTN3A3 BTN3A2

2.23e-0415272458
GeneFamilySolute carriers

SLC22A25 SLC44A3 SLC5A2

2.05e-02395273752
GeneFamilyAdenosine receptors|V-set domain containing

BTN3A3 BTN3A2

2.45e-02163272590
ToppCellwk_15-18-Hematologic-Myeloid-Mast|wk_15-18 / Celltypes from embryonic and fetal-stage human lung

NRROS F2RL3 MTHFD2 ANKRD27

1.69e-05172404a7146c255031207e64682ef767884b11c96e0d59
ToppCellfacs-Heart-LA-24m-Mesenchymal-ventricular_cardiomyocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

XIRP1 CABCOCO1 RYR2 SCN5A

2.30e-05186404337f768cc43db2db96ba6495b076006b1a5b0331
ToppCellfacs-Heart-LA-24m-Mesenchymal-ventricular_myocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

XIRP1 CABCOCO1 RYR2 SCN5A

2.30e-05186404e378c82ef6d6cb24751515aa499a01372b3e7ccf
ToppCellfacs-Heart-RA-24m-Mesenchymal-ventricular_cardiomyocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

XIRP1 CABCOCO1 RYR2 SCN5A

2.45e-05189404b98f60875b1a12b2ec9dc91889298ae57f98602f
ToppCellfacs-Heart-RA-24m-Mesenchymal-ventricular_myocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

XIRP1 CABCOCO1 RYR2 SCN5A

2.45e-05189404e758b264c0a47127e33e66c395cf5a3224c7305b
ToppCellfacs-Heart-LV-24m-Mesenchymal-ventricular_myocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

XIRP1 CABCOCO1 RYR2 SCN5A

2.55e-051914049d7d680da3979e256191b534ebd14c5383e0cf93
ToppCellfacs-Heart-LV-24m-Mesenchymal-ventricular_cardiomyocyte|Heart / Tongue_Heart_Limb_Muscle_Aorta_Diaphragm - method, tissue, subtissue, age, lineage, cell ontology and free annotation

XIRP1 CABCOCO1 RYR2 SCN5A

2.55e-05191404543da1197c7e62f2c9cbd4a51414bbaaa6d1a92f
ToppCellNeuronal-Inhibitory-iA-iA_3(VIP)-VIP_3-PCDH20-L1-2|Neuronal / cells hierarchy compared to all cells using T-Statistic

DOCK1 TAC3 LRRC3B BTN3A2

3.05e-052004041d67c5d2c617749b521e70879950dea2c9d076d6
ToppCellNeuronal-Inhibitory-iA-iA_3(VIP)-VIP_3-PCDH20|Neuronal / cells hierarchy compared to all cells using T-Statistic

DOCK1 TAC3 LRRC3B BTN3A2

3.05e-0520040426c7f2b0afe9e50f2a5c43918ad8e91d7553b72c
ComputationalNeighborhood of CASP8

SEMA4D BTN3A3 BTN3A2

2.76e-0527243GNF2_CASP8
ComputationalNeighborhood of SNRK

SEMA4D BTN3A3 BTN3A2

3.09e-0528243GNF2_SNRK
ComputationalNeighborhood of ITGAL

SEMA4D BTN3A3 BTN3A2

2.38e-0455243GNF2_ITGAL
DrugMeglumine [6284-40-8]; Up 200; 20.4uM; HL60; HT_HG-U133A

GRIN1 MATN1 ESR1 RYR2 TBCD ACRV1

9.31e-072003863068_UP
DrugSalbutamol [18559-94-9]; Up 200; 16.8uM; PC3; HT_HG-U133A

BTN3A2 MATN1 ESR1 RYR2 SLC5A2

1.43e-051873853677_UP
Drug17-AAG; Up 200; 1uM; PC3; HT_HG-U133A

GRIN1 ESR1 RYR2 ACRV1 SLC5A2

1.58e-051913854442_UP
DrugAC1MO44G

TAC3 DCD RAD9A SLC5A2

1.66e-0592384CID003363161
DrugFluticasone propionate [80474-14-2]; Down 200; 8uM; MCF7; HT_HG-U133A

DOCK1 SEMA4D ESR1 RYR2 SLC5A2

1.79e-051963857348_DN
DrugMerbromin [129-16-8]; Up 200; 5uM; PC3; HT_HG-U133A

SEMA4D GRIN1 MATN1 ACRV1 SLC5A2

1.79e-051963853700_UP
DrugBenzylpenicillin sodium [69-57-8]; Up 200; 11.2uM; MCF7; HT_HG-U133A

BTN3A3 GRIN1 MATN1 ACRV1 SCN5A

1.83e-051973853577_UP
DrugCGX 0596987; Up 200; 20uM; MCF7; HT_HG-U133A

MATN1 ESR1 RYR2 ACRV1 SCN5A

1.83e-051973856412_UP
DrugHydroflumethiazide [135-09-1]; Up 200; 12uM; PC3; HT_HG-U133A

BTN3A3 ESR1 TBCD ABCB8 SLC5A2

1.83e-051973857259_UP
DrugSalsolinol hydrobromide [38221-21-5]; Up 200; 15.4uM; MCF7; HT_HG-U133A

BTN3A3 MATN1 ESR1 ACRV1 SLC5A2

1.88e-051983854816_UP
Drugestradiol dipropionate

ESR1 SLC5A2

2.70e-055382ctd:C023482
DiseaseArrhythmogenic Right Ventricular Dysplasia

RYR2 SCN5A

4.84e-063382C0349788
DiseaseTachycardia, Ventricular

RYR2 SCN5A

8.82e-0511382C0042514
DiseaseLong QT Syndrome

RYR2 SCN5A

8.82e-0511382C0023976
DiseaseBRCAX breast cancer

DOCK1 ESR1

3.02e-0420382EFO_0009443
Diseasecolorectal health

DOCK1 XIRP1 RYR2

2.20e-03201383EFO_0008460

Protein segments in the cluster

PeptideGeneStartEntry
SLSLLLHCIMFNMRS

URB2

541

Q14146
FMTLLAMSLQNLKTL

CABCOCO1

11

Q8IVU9
MKMASSLAFLLLNFH

BTN3A3

1

O00478
MNRFLLLMSLYLLGS

ACRV1

1

P26436
SSMARALVLLQSMAS

CCDC27

61

Q2M243
MRKMNTLLLVSLSFL

PATE4

1

P0C8F1
LMKSFLSVFRSLAML

RAD9A

76

Q99638
LFLKQRMSLLSQMTS

ANKRD27

381

Q96NW4
MRVLSGTSLMLCSLL

MATN1

1

P21941
LSSLLSLLLFAGMQM

KRTCAP2

11

Q8N6L1
DMLLATSSRFRMMNL

ESR1

426

P03372
MAFSMLASLNLLRLS

ABCC11

416

Q96J66
MRFMTLLFLTALAGA

DCD

1

P81605
SLSMCLLLQSFVLMI

LRRC3B

11

Q96PB8
MSNASLLTAFILMGL

OR10G8

1

Q8NGN5
STMLLMNLAAADLLL

F2RL3

111

Q96RI0
MMALLQQLLHSDSLS

PIKFYVE

616

Q9Y2I7
SLLQLFRSINDMMSS

DOCK1

771

Q14185
MNSKRMLLLVLFAFS

GLT6D1

1

Q7Z4J2
RLLRSMATQAMSNAL

DIS3L

756

Q8TF46
MKMASSLAFLLLNFH

BTN3A2

1

P78410
LALALSLAMMFTFRF

SLC44A3

221

Q8N4M1
RLSQMLLMFLLATCL

SLC22A25

406

Q6T423
FALRYNILTLMRMLS

RYR2

4246

Q92736
LSLRNMGLHSSFMAL

NRROS

516

Q86YC3
SLSMLSTRLTLLLMV

ABCB8

286

Q9NUT2
TNMLLELARSLFNRM

RNF181

21

Q9P0P0
MAATSLMSALAARLL

MTHFD2

1

P13995
LLANMAVDRSMTASL

SEC24A

846

O95486
LSLMELGLSRMSNLS

SCN5A

791

Q14524
MYLKSSDNRLLMSLF

SEMA4D

726

Q92854
FAAMLFLFSMATLLR

ZDHHC9

71

Q9Y397
RTAQLTSLAMLMLDS

MTM1

381

Q13496
MLAALMSSLASIFNS

SLC5A2

386

P31639
ISMLAMLFTLSGLRA

TRAV3

6

A0A0B4J244
ILRYTMSSMLLLRLS

ZACN

76

Q401N2
MTSLMDLTLLLARSQ

TBCD

876

Q9BTW9
MRIMLLFTAILAFSL

TAC3

1

Q9UHF0
LLAAMQSLRMATAEA

XIRP1

1051

Q702N8
MSTMRLLTLALLFSC

GRIN1

1

Q05586