Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionsodium ion transmembrane transporter activity

SLC13A3 TPCN1 SLC6A7 SCN1A SCN2A SCN8A ATP1A4 ATP4A

2.67e-051711398GO:0015081
GeneOntologyMolecularFunctionvoltage-gated sodium channel activity

TPCN1 SCN1A SCN2A SCN8A

2.98e-05261394GO:0005248
GeneOntologyMolecularFunctionalkali metal ion binding

SCN1A SCN2A SCN8A ATP4A

2.98e-05261394GO:0031420
GeneOntologyMolecularFunctionsodium ion binding

SCN1A SCN2A SCN8A

1.14e-04141393GO:0031402
GeneOntologyMolecularFunctionadenosine-phosphate deaminase activity

AMPD1 AMPD2

1.44e-0431392GO:0047623
GeneOntologyMolecularFunctionAMP deaminase activity

AMPD1 AMPD2

1.44e-0431392GO:0003876
GeneOntologyMolecularFunctionG protein-coupled receptor activity

OR5W2 OR51T1 VN1R5 MRGPRD GPR26 OR7C2 OR1F2P SSTR4 GPR139 OR6A2 GPR61 OR1I1 OR3A3 SCTR TACR2 OR9A2

4.41e-0488413916GO:0004930
GeneOntologyMolecularFunctionsodium channel activity

TPCN1 SCN1A SCN2A SCN8A

4.70e-04521394GO:0005272
GeneOntologyMolecularFunctionL-ornithine transmembrane transporter activity

SLC7A1 SLC7A2

4.75e-0451392GO:0000064
GeneOntologyMolecularFunctioncalcium- and calmodulin-responsive adenylate cyclase activity

ADCY5 ADCY6

4.75e-0451392GO:0008294
GeneOntologyBiologicalProcesscilium movement

STK36 BBS1 BBS2 CFAP54 RABL2B RABL2A DNAH12 TACR2 ATP1A4 DYNC1H1

1.06e-0526113810GO:0003341
GeneOntologyBiologicalProcessphotoreceptor cell morphogenesis

BBS1 RABL2B RABL2A

2.39e-0591383GO:0008594
GeneOntologyBiologicalProcesssodium ion transmembrane transport

SLC13A3 TPCN1 SLC6A7 SCN1A SCN2A SCN8A ATP1A4 ATP4A

8.09e-052081388GO:0035725
GeneOntologyBiologicalProcesscilium movement involved in cell motility

BBS1 BBS2 CFAP54 RABL2B RABL2A DNAH12 TACR2 ATP1A4

8.64e-052101388GO:0060294
GeneOntologyBiologicalProcesssodium ion transport

SLC13A3 TPCN1 SLC6A7 SCN1A SCN2A SCN8A IKBKB ATP1A4 ATP4A

1.00e-042751389GO:0006814
GeneOntologyBiologicalProcesscilium-dependent cell motility

BBS1 BBS2 CFAP54 RABL2B RABL2A DNAH12 TACR2 ATP1A4

1.02e-042151388GO:0060285
GeneOntologyBiologicalProcesscilium or flagellum-dependent cell motility

BBS1 BBS2 CFAP54 RABL2B RABL2A DNAH12 TACR2 ATP1A4

1.02e-042151388GO:0001539
GeneOntologyBiologicalProcessmicrotubule-based movement

STK36 IFT172 BBS1 BBS2 CFAP54 RABL2B RABL2A DNAH12 TACR2 ATP1A4 DYNC1H1 PCM1

1.22e-0449313812GO:0007018
GeneOntologyBiologicalProcesspost-Golgi vesicle-mediated transport

ANKFY1 BBS1 BBS2 ASB14 MACF1 DOP1B

1.50e-041191386GO:0006892
GeneOntologyCellularComponentsperm midpiece

IFT172 ADGB RABL2B RABL2A TACR2 ATP1A4

4.06e-06641386GO:0097225
GeneOntologyCellularComponentcilium

TNPO1 ANKS6 IFT172 RTTN BBS1 BBS2 ADCY5 ADCY6 ADGB CFAP54 RABL2B RABL2A DNAH12 TACR2 TMEM262 ATP1A4 USP48 RAB27A PCM1

7.21e-0689813819GO:0005929
GeneOntologyCellularComponentmotile cilium

IFT172 BBS1 BBS2 ADGB RABL2B RABL2A DNAH12 TACR2 TMEM262 ATP1A4

1.27e-0435513810GO:0031514
GeneOntologyCellularComponentvoltage-gated sodium channel complex

SCN1A SCN2A SCN8A

1.79e-04171383GO:0001518
GeneOntologyCellularComponentnode of Ranvier

SCN1A SCN2A SCN8A

2.96e-04201383GO:0033268
GeneOntologyCellularComponentciliary basal body

IFT172 RTTN BBS1 BBS2 RABL2B RABL2A PCM1

3.19e-041951387GO:0036064
GeneOntologyCellularComponentintraciliary transport particle B

IFT172 RABL2B RABL2A

3.43e-04211383GO:0030992
GeneOntologyCellularComponentprotein phosphatase 4 complex

PPP4R3A PPP4R3C

6.38e-0461382GO:0030289
GeneOntologyCellularComponentintraciliary transport particle

IFT172 RABL2B RABL2A

8.17e-04281383GO:0030990
GeneOntologyCellularComponentpericentriolar material

RABL2B RABL2A PCM1

8.17e-04281383GO:0000242
GeneOntologyCellularComponentaxon initial segment

SCN1A SCN2A SCN8A

9.07e-04291383GO:0043194
GeneOntologyCellularComponentsodium channel complex

SCN1A SCN2A SCN8A

9.07e-04291383GO:0034706
GeneOntologyCellularComponent90S preribosome

BMS1 PES1 UTP20

9.07e-04291383GO:0030686
GeneOntologyCellularComponent9+2 motile cilium

IFT172 ADGB RABL2B RABL2A DNAH12 TACR2 ATP1A4

1.04e-032381387GO:0097729
GeneOntologyCellularComponentBBSome

BBS1 BBS2

1.18e-0381382GO:0034464
HumanPhenoCortical dysplasia

CUL4B RTTN SCN1A SCN2A NUP133 DYNC1H1

1.30e-0556496HP:0002539
MousePhenoabnormal cholangiocyte morphology

ANKS6 DENND1A CDK5RAP3

8.34e-0661063MP:0012236
MousePhenoincreased circulating triglyceride level

AMPD2 GPR26 BBS2 PPARA CLOCK PHKB SIDT2 GPR61 MYO18B NR1H4

2.96e-0526210610MP:0001552
DomainNa_trans_cytopl

SCN1A SCN2A SCN8A

7.11e-0661343PF11933
DomainNa_trans_cytopl

SCN1A SCN2A SCN8A

7.11e-0661343IPR024583
DomainARM-type_fold

TNPO1 STK36 IFT172 RTTN INTS1 XPO4 HUWE1 RYR3 PPP4R3A DOCK5 UTP20

3.38e-0533913411IPR016024
DomainNa_channel_asu

SCN1A SCN2A SCN8A

4.18e-05101343IPR001696
DomainNa_trans_assoc

SCN1A SCN2A SCN8A

4.18e-05101343IPR010526
DomainNa_trans_assoc

SCN1A SCN2A SCN8A

4.18e-05101343PF06512
DomainKSR1-SAM

KSR2 KSR1

5.11e-0521342PF13543
DomainSecretoglobin_1C1/2

SCGB1C2 SCGB1C1

5.11e-0521342IPR028659
DomainKSR_SAM-like_dom

KSR2 KSR1

5.11e-0521342IPR025561
DomainG_PROTEIN_RECEP_F1_1

OR5W2 OR51T1 VN1R5 MRGPRD GPR26 OR7C2 OR1F2P SSTR4 GPR139 OR6A2 GPR61 OR1I1 OR3A3 TACR2 OR9A2

1.20e-0468513415PS00237
DomainG_PROTEIN_RECEP_F1_2

OR5W2 OR51T1 VN1R5 MRGPRD GPR26 OR7C2 OR1F2P SSTR4 GPR139 OR6A2 GPR61 OR1I1 OR3A3 TACR2 OR9A2

1.32e-0469113415PS50262
DomainGPCR_Rhodpsn

OR5W2 OR51T1 VN1R5 MRGPRD GPR26 OR7C2 OR1F2P SSTR4 GPR139 OR6A2 GPR61 OR1I1 OR3A3 TACR2 OR9A2

1.34e-0469213415IPR000276
DomainAMPD

AMPD1 AMPD2

1.53e-0431342IPR006329
DomainCat_AA_permease

SLC7A1 SLC7A2

1.53e-0431342IPR004755
DomainIon_trans_dom

RYR3 TPCN1 KCNH6 SCN1A SCN2A SCN8A

1.72e-041141346IPR005821
DomainIon_trans

RYR3 TPCN1 KCNH6 SCN1A SCN2A SCN8A

1.72e-041141346PF00520
DomainIQ

ADGB SCN1A SCN2A SCN8A MYO18B

2.92e-04811345SM00015
DomainA/AMP_deam_AS

AMPD1 AMPD2

3.04e-0441342IPR006650
Domain7tm_1

OR5W2 OR51T1 MRGPRD GPR26 OR7C2 OR1F2P SSTR4 GPR139 OR6A2 GPR61 OR1I1 OR3A3 TACR2 OR9A2

3.66e-0467713414PF00001
DomainIQ_motif_EF-hand-BS

ADGB SCN1A SCN2A SCN8A MYO18B

4.76e-04901345IPR000048
DomainCAT3

SLC7A1 SLC7A2

5.04e-0451342IPR015606
DomainAA_permease_C

SLC7A1 SLC7A2

5.04e-0451342PF13906
DomainCAT_C

SLC7A1 SLC7A2

5.04e-0451342IPR029485
DomainIQ

ADGB SCN1A SCN2A SCN8A MYO18B

5.53e-04931345PS50096
DomainChannel_four-helix_dom

TPCN1 SCN1A SCN2A SCN8A

7.45e-04571344IPR027359
Domain-

TPCN1 SCN1A SCN2A SCN8A

7.45e-045713441.20.120.350
DomainAdcy_conserved_dom

ADCY5 ADCY6

7.52e-0461342IPR009398
DomainA_DEAMINASE

AMPD1 AMPD2

7.52e-0461342PS00485
DomainDUF1053

ADCY5 ADCY6

7.52e-0461342PF06327
DomainA_deaminase

AMPD1 AMPD2

7.52e-0461342PF00962
DomainP-type_ATPase_IIC

ATP1A4 ATP4A

7.52e-0461342IPR005775
DomainA/AMP_deaminase_dom

AMPD1 AMPD2

7.52e-0461342IPR001365
DomainDUSP

USP48 USP15

1.05e-0371342PS51283
Domain-

USP48 USP15

1.05e-03713423.30.2230.10
DomainPept_C19_DUSP

USP48 USP15

1.05e-0371342IPR006615
DomainGPCR_Rhodpsn_7TM

OR5W2 OR51T1 MRGPRD GPR26 OR7C2 SSTR4 GPR139 OR6A2 GPR61 OR1I1 OR3A3 TACR2 OR9A2

1.07e-0367013413IPR017452
DomainAC_N

ADCY5 ADCY6

1.39e-0381342IPR032628
DomainAdcy

ADCY5 ADCY6

1.39e-0381342IPR030672
DomainAC_N

ADCY5 ADCY6

1.39e-0381342PF16214
DomainSCGB

SCGB1C2 SCGB1C1

1.78e-0391342PS51311
DomainRAB

RAB8B RABL2B RABL2A RAB27A

1.88e-03731344PS51419
DomainUteroglobin

SCGB1C2 SCGB1C1

2.21e-03101342PF01099
DomainSecretoglobin

SCGB1C2 SCGB1C1

2.69e-03111342IPR016126
DomainDHR-1_domain

DOCK5 DOCK7

2.69e-03111342IPR027007
DomainDHR_2

DOCK5 DOCK7

2.69e-03111342PS51651
DomainDHR_1

DOCK5 DOCK7

2.69e-03111342PS51650
DomainDHR-2

DOCK5 DOCK7

2.69e-03111342PF06920
DomainDOCK

DOCK5 DOCK7

2.69e-03111342IPR026791
DomainDOCK_C

DOCK5 DOCK7

2.69e-03111342IPR010703
DomainDOCK-C2

DOCK5 DOCK7

2.69e-03111342PF14429
DomainDHR-2

DOCK5 DOCK7

2.69e-03111342IPR027357
DomainARM-like

TNPO1 STK36 RTTN XPO4 HUWE1 PPP4R3A UTP20

3.38e-032701347IPR011989
DomainAA_permease_2

SLC7A1 SLC7A2

3.78e-03131342PF13520
DomainAA/rel_permease1

SLC7A1 SLC7A2

3.78e-03131342IPR002293
DomainZnf_hrmn_rcpt

PPARA NR1D1 NR1H4

4.38e-03461343IPR001628
DomainNUCLEAR_REC_DBD_2

PPARA NR1D1 NR1H4

4.38e-03461343PS51030
DomainNUCLEAR_REC_DBD_1

PPARA NR1D1 NR1H4

4.38e-03461343PS00031
DomainZnF_C4

PPARA NR1D1 NR1H4

4.38e-03461343SM00399
Domainzf-C4

PPARA NR1D1 NR1H4

4.38e-03461343PF00105
DomainNuclear_hrmn_rcpt

PPARA NR1D1 NR1H4

4.38e-03461343IPR001723
DomainDynein_heavy_chain_D4_dom

DNAH12 DYNC1H1

4.39e-03141342IPR024317
DomainVitD_rcpt

NR1D1 NR1H4

4.39e-03141342IPR000324
DomainDynein_heavy_dom-2

DNAH12 DYNC1H1

4.39e-03141342IPR013602
DomainDHC_N2

DNAH12 DYNC1H1

4.39e-03141342PF08393
DomainATPase_dyneun-rel_AAA

DNAH12 DYNC1H1

4.39e-03141342IPR011704
DomainAAA_8

DNAH12 DYNC1H1

4.39e-03141342PF12780
DomainuDENN

DENND4A DENND1A

4.39e-03141342SM00800
DomainAAA_5

DNAH12 DYNC1H1

4.39e-03141342PF07728
Domain-

PPARA NR1D1 NR1H4

4.65e-034713431.10.565.10
DomainNucl_hrmn_rcpt_lig-bd

PPARA NR1D1 NR1H4

4.93e-03481343IPR000536
DomainHOLI

PPARA NR1D1 NR1H4

4.93e-03481343SM00430
DomainHormone_recep

PPARA NR1D1 NR1H4

4.93e-03481343PF00104
DomainHEAT

TNPO1 STK36 UTP20

4.93e-03481343PF02985
DomainDHC_fam

DNAH12 DYNC1H1

5.05e-03151342IPR026983
DomainuDENN

DENND4A DENND1A

5.05e-03151342PF03456
DomainDynein_heavy

DNAH12 DYNC1H1

5.05e-03151342PF03028
DomainDynein_heavy_dom

DNAH12 DYNC1H1

5.05e-03151342IPR004273
DomainDENN

DENND4A DENND1A

5.74e-03161342SM00799
DomainMAM_1

TMPRSS15 ALK

5.74e-03161342PS00740
DomainDENN

DENND4A DENND1A

5.74e-03161342PF02141
DomaindDENN

DENND4A DENND1A

5.74e-03161342PF03455
DomainATPase_P-typ_TM_dom

ATP1A4 ATP4A

5.74e-03161342IPR023298
DomainUDENN

DENND4A DENND1A

5.74e-03161342PS50946
DomainDDENN

DENND4A DENND1A

5.74e-03161342PS50947
Domain-

ATP1A4 ATP4A

5.74e-031613421.20.1110.10
DomaindDENN

DENND4A DENND1A

5.74e-03161342SM00801
DomaindDENN_dom

DENND4A DENND1A

5.74e-03161342IPR005112
DomainuDENN_dom

DENND4A DENND1A

5.74e-03161342IPR005113
DomainDENN

DENND4A DENND1A

5.74e-03161342PS50211
DomainDENN_dom

DENND4A DENND1A

5.74e-03161342IPR001194
DomainATPase_P-typ_cation-transptr_C

ATP1A4 ATP4A

6.48e-03171342IPR006068
DomainA/G_cyclase_CS

ADCY5 ADCY6

6.48e-03171342IPR018297
DomainCation_ATPase_C

ATP1A4 ATP4A

6.48e-03171342PF00689
DomainTPR-like_helical_dom

TANC2 IFT172 PSMD11 TEX11 CFAP54 FKBP5

6.75e-032331346IPR011990
Pubmed

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

CUL4B TNPO1 TANC2 AMPD2 DENND4A ANKS6 EYA4 IFT172 BBS1 BBS2 XPO4 CLOCK DENND1A ADCY6 PPP4R3A NUP205 DOCK5 STK3 KSR1 DOCK7 NUP133 UBAC2 USP15 DYNC1H1 RUSF1

9.48e-1113211392527173435
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 SCN8A

6.25e-083139332845893
Pubmed

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

SCN1A SCN2A SCN8A

6.25e-083139328518218
Pubmed

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

SCN1A SCN2A SCN8A

6.25e-083139317928448
Pubmed

A high-throughput approach for measuring temporal changes in the interactome.

CUL4B TNPO1 AMPD2 GNPDA1 ANKFY1 NIF3L1 PSMD11 HUWE1 PPP4R3A NUP205 FASN LUC7L2 FDPS PES1 NUP133 ANP32E MACF1 IKBKB USP48 USP15 FKBP5 DYNC1H1

8.02e-0814551392222863883
Pubmed

A dual-activity topoisomerase complex regulates mRNA translation and turnover.

EPHB4 TANC2 STK36 ANKS6 EP400 RTTN KSR2 INTS1 TRMT11 PPARA ATG2A HUWE1 DENND1A TPCN1 PCNX2 SLC7A1 FASN SCN8A DYNC1H1

9.58e-0811051391935748872
Pubmed

Impaired plasma membrane localization of ubiquitin ligase complex underlies 3-M syndrome development.

RTTN PSMD11 HUWE1 PPP4R3A NUP205 DOCK5 FASN DNAH12 CCNB3 FER1L4 PES1 MACF1 MYO18B

1.10e-074961391331343991
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 SCN8A

2.49e-074139317537961
Pubmed

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

SCN1A SCN2A SCN8A

2.49e-074139335031483
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 SCN8A

2.49e-074139329578003
Pubmed

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

SCN1A SCN2A SCN8A

2.49e-074139321156207
Pubmed

Functional proteomics establishes the interaction of SIRT7 with chromatin remodeling complexes and expands its role in regulation of RNA polymerase I transcription.

CUL4B TNPO1 INTS1 BMS1 HUWE1 NUP205 FASN PES1 DOCK7 NUP133 MACF1 UTP20 DYNC1H1 PCM1

4.00e-076531391422586326
Pubmed

Defining the membrane proteome of NK cells.

INTS1 DHRS13 PSMD11 HUWE1 NUP205 KSR1 SLC7A1 FASN CDK5RAP3 GYG1 PES1 NUP133 ADAM17 MCTP2 FKBP5 DYNC1H1 RUSF1 PCM1

1.04e-0611681391819946888
Pubmed

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

SCN1A SCN2A SCN8A

1.24e-066139323652591
Pubmed

HiQuant: Rapid Postquantification Analysis of Large-Scale MS-Generated Proteomics Data.

KSR2 KSR1 FKBP5

1.24e-066139327086506
Pubmed

A protein-interaction network of interferon-stimulated genes extends the innate immune system landscape.

NUDT19 TNPO1 BMS1 XPO4 PSMD11 HUWE1 DENND1A NUP205 FASN LUC7L2 FDPS PES1 DOCK7 NUP133 ANP32E IKBKB FKBP5 RAB27A DYNC1H1 PCM1

1.25e-0614401392030833792
Pubmed

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

SCN1A SCN2A SCN8A

2.16e-067139325818041
Pubmed

Direct interaction between hnRNP-M and CDC5L/PLRG1 proteins affects alternative splice site choice.

TNPO1 TANC2 INTS1 PSMD11 HUWE1 DOCK5 FASN GSDME LUC7L2 MACF1 USP48 DYNC1H1

4.18e-065821391220467437
Pubmed

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

SCN1A SCN2A SCN8A

5.16e-069139316382098
Pubmed

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

SCN1A SCN2A SCN8A

5.16e-069139315746173
Pubmed

Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses.

BBS1 BBS2 PCM1

5.16e-069139318762586
Pubmed

HIV-host interactome revealed directly from infected cells.

PSMD11 HUWE1 FASN NUP133 PDIA2 ADAM17 RUSF1

6.31e-06172139727375898
Pubmed

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

BBS1 BBS2 PCM1

7.34e-0610139317574030
Pubmed

DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle.

BBS1 BBS2 PCM1

7.34e-0610139327979967
Pubmed

A BBSome subunit links ciliogenesis, microtubule stability, and acetylation.

BBS1 BBS2 PCM1

7.34e-0610139319081074
Pubmed

C16orf72/HAPSTR1 is a molecular rheostat in an integrated network of stress response pathways.

CUL4B TNPO1 ANKFY1 PSMD11 HUWE1 USP15

8.76e-06119139635776542
Pubmed

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.

BBS1 BBS2 PCM1

1.01e-0511139324550735
Pubmed

The Hsp70-Hsp90 co-chaperone Hop/Stip1 shifts the proteostatic balance from folding towards degradation.

CUL4B TNPO1 ANKFY1 IFT172 PSMD11 HUWE1 PPP4R3A NUP205 FASN PES1 NUP133 DYNC1H1

1.05e-056381391233239621
Pubmed

Odorant receptor expressed sequence tags demonstrate olfactory expression of over 400 genes, extensive alternate splicing and unequal expression levels.

OR5W2 OR51T1 OR7C2 OR1F2P OR6A2 OR1I1 SCGB1C2 OR9A2 SCGB1C1

1.13e-05346139914611657
Pubmed

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

SCN1A SCN2A SCN8A

1.34e-0512139330175250
Pubmed

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors.

DENND4A RAB8B DENND1A RAB27A

1.46e-0537139420937701
Pubmed

SCGB1C1 Plays a Critical Role in Suppression of Allergic Airway Inflammation through the Induction of Regulatory T Cell Expansion.

SCGB1C2 SCGB1C1

1.59e-052139238892470
Pubmed

"New" hepatic fat activates PPARalpha to maintain glucose, lipid, and cholesterol homeostasis.

PPARA FASN

1.59e-052139216054078
Pubmed

Kinase suppressor of Ras 2 (KSR2) regulates tumor cell transformation via AMPK.

KSR2 KSR1

1.59e-052139222801368
Pubmed

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy.

SCN1A SCN8A

1.59e-052139237901435
Pubmed

An Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.

SCN1A SCN8A

1.59e-052139226410685
Pubmed

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

SCN1A SCN2A

1.59e-052139210827969
Pubmed

RABL2 Is Required for Hepatic Fatty Acid Homeostasis and Its Dysfunction Leads to Steatosis and a Diabetes-Like State.

RABL2B RABL2A

1.59e-052139227732084
Pubmed

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

SCN1A SCN2A

1.59e-052139219694741
Pubmed

Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review.

SCN2A SCN8A

1.59e-052139235348308
Pubmed

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

BBS1 BBS2

1.59e-052139212677556
Pubmed

Knockout of adenylyl cyclase isoform 5 or 6 differentially modifies the β1-adrenoceptor-mediated inotropic response.

ADCY5 ADCY6

1.59e-052139231009605
Pubmed

Electrophysiological properties of two axonal sodium channels, Nav1.2 and Nav1.6, expressed in mouse spinal sensory neurones.

SCN2A SCN8A

1.59e-052139215760941
Pubmed

Differential expression of two sodium channel subtypes in human brain.

SCN1A SCN2A

1.59e-05213921317301
Pubmed

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

SCN1A SCN2A

1.59e-052139231439038
Pubmed

The prognostic biomarker L-homoarginine is a substrate of the cationic amino acid transporters CAT1, CAT2A and CAT2B.

SLC7A1 SLC7A2

1.59e-052139228684763
Pubmed

Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing.

RABL2B RABL2A

1.59e-052139220138207
Pubmed

The importance of cationic amino acid transporter expression in human skin.

SLC7A1 SLC7A2

1.59e-052139212787129
Pubmed

The calcium paradoxon of renin release: calcium suppresses renin exocytosis by inhibition of calcium-dependent adenylate cyclases AC5 and AC6.

ADCY5 ADCY6

1.59e-052139217068292
Pubmed

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome.

SCN1A SCN8A

1.59e-052139231943325
Pubmed

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

SCN1A SCN2A

1.59e-052139215249644
Pubmed

Adenylyl cyclase 5-generated cAMP controls cerebral vascular reactivity during diabetic hyperglycemia.

ADCY5 ADCY6

1.59e-052139231162142
Pubmed

CLOCK is involved in the circadian transactivation of peroxisome-proliferator-activated receptor alpha (PPARalpha) in mice.

PPARA CLOCK

1.59e-052139215500444
Pubmed

Human cationic amino acid transporters hCAT-1, hCAT-2A, and hCAT-2B: three related carriers with distinct transport properties.

SLC7A1 SLC7A2

1.59e-05213929174363
Pubmed

Differential regulation of vascular tone and remodeling via stimulation of type 2 and type 6 adenylyl cyclases in the ductus arteriosus.

ADCY5 ADCY6

1.59e-052139220431059
Pubmed

Reduced expression of Na(v)1.6 sodium channels and compensation by Na(v)1.2 channels in mice heterozygous for a null mutation in Scn8a.

SCN2A SCN8A

1.59e-052139218601978
Pubmed

FGF14 N-terminal splice variants differentially modulate Nav1.2 and Nav1.6-encoded sodium channels.

SCN2A SCN8A

1.59e-052139219465131
Pubmed

Direct regulation of CLOCK expression by REV-ERB.

NR1D1 CLOCK

1.59e-052139221479263
Pubmed

Control of cationic amino acid transport and retroviral receptor functions in a membrane protein family.

SLC7A1 SLC7A2

1.59e-05213928195186
Pubmed

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

SCN1A SCN2A

1.59e-052139230693367
Pubmed

Block of a subset of sodium channels exacerbates experimental autoimmune encephalomyelitis.

SCN2A SCN8A

1.59e-052139223735284
Pubmed

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

SCN1A SCN2A

1.59e-052139229649454
Pubmed

Human cationic amino acid transporters are not affected by direct nitros(yl)ation.

SLC7A1 SLC7A2

1.59e-052139232008093
Pubmed

Ciliogenesis is reciprocally regulated by PPARA and NR1H4/FXR through controlling autophagy in vitro and in vivo.

PPARA NR1H4

1.59e-052139229771182
Pubmed

Adenylyl cyclase subtype-specific compartmentalization: differential regulation of L-type Ca2+ current in ventricular myocytes.

ADCY5 ADCY6

1.59e-052139223609114
Pubmed

Adenylyl cyclase type 5 protein expression during cardiac development and stress.

ADCY5 ADCY6

1.59e-052139219734365
Pubmed

Monocarboxylate transporter 1 in the liver modulates high-fat diet-induced obesity and hepatic steatosis in mice.

PPARA HUWE1

1.59e-052139236933792
Pubmed

Identification of a low affinity, high capacity transporter of cationic amino acids in mouse liver.

SLC7A1 SLC7A2

1.59e-05213928385111
Pubmed

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

SCN1A SCN2A

1.59e-052139233096315
Pubmed

Farnesol, an isoprenoid, improves metabolic abnormalities in mice via both PPARα-dependent and -independent pathways.

PPARA NR1H4

1.59e-052139221862726
Pubmed

Sodium channel expression within chronic multiple sclerosis plaques.

SCN2A SCN8A

1.59e-052139217805013
Pubmed

Bile acids induce the expression of the human peroxisome proliferator-activated receptor alpha gene via activation of the farnesoid X receptor.

PPARA NR1H4

1.59e-052139212554753
Pubmed

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

SCN1A SCN2A

1.59e-052139226311622
Pubmed

Aberrant regulation of a poison exon caused by a non-coding variant in a mouse model of Scn1a-associated epileptic encephalopathy.

SCN1A SCN8A

1.59e-052139233411788
Pubmed

Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13.

RABL2B RABL2A

1.59e-052139210444334
Pubmed

Sex-dependent relationship of polymorphisms in CLOCK and REV-ERBα genes with body mass index and lipid levels in children.

NR1D1 CLOCK

1.59e-052139238092833
Pubmed

Variants in RABL2A causing male infertility and ciliopathy.

RABL2B RABL2A

1.59e-052139233075816
Pubmed

REV-ERBα and the clock gene machinery in mouse peripheral tissues: a possible role as a synchronizing hinge.

NR1D1 CLOCK

1.59e-052139222824754
Pubmed

Regulation of cationic amino acid transporter (CAT) gene expression.

SLC7A1 SLC7A2

1.59e-05213928878860
Pubmed

Cell signalling-mediating insulin increase of mRNA expression for cationic amino acid transporters-1 and -2 and membrane hyperpolarization in human umbilical vein endothelial cells.

SLC7A1 SLC7A2

1.59e-052139215064952
Pubmed

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.

BBS1 BBS2

1.59e-052139211096143
Pubmed

KSR2 is an essential regulator of AMP kinase, energy expenditure, and insulin sensitivity.

KSR2 KSR1

1.59e-052139219883615
Pubmed

Nutrient-sensing nuclear receptors PPARα and FXR control liver energy balance.

PPARA NR1H4

1.59e-052139228287408
Pubmed

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

SCN1A SCN2A

1.59e-052139221377452
Pubmed

A new perspective on NAFLD: Focusing on the crosstalk between peroxisome proliferator-activated receptor alpha (PPARα) and farnesoid X receptor (FXR).

PPARA NR1H4

1.59e-052139235988420
Pubmed

RABL2 positively controls localization of GPCRs in mammalian primary cilia.

RABL2B RABL2A

1.59e-052139230578315
Pubmed

Characterization of cationic amino acid transporters (hCATs) 1 and 2 in human skin.

SLC7A1 SLC7A2

1.59e-052139218172665
Pubmed

Reduced peroxisome proliferator-activated receptor-α and bile acid nuclear receptor NR1H4/FXR may affect the hepatic immune microenvironment of biliary atresia.

PPARA NR1H4

1.59e-052139236090996
Pubmed

Stimulation of renin secretion by catecholamines is dependent on adenylyl cyclases 5 and 6.

ADCY5 ADCY6

1.59e-052139221282557
Pubmed

Persistent Nav1.1 and Nav1.6 currents drive spinal locomotor functions through nonlinear dynamics.

SCN1A SCN8A

1.59e-052139237665666
Pubmed

SR9009 administered for one day after myocardial ischemia-reperfusion prevents heart failure in mice by targeting the cardiac inflammasome.

NR1D1 CLOCK

1.59e-052139231602405
Pubmed

The voltage-gated sodium channel Scn8a is a genetic modifier of severe myoclonic epilepsy of infancy.

SCN1A SCN8A

1.59e-052139217881658
Pubmed

Kinase Suppressor of Ras 2 (KSR2) expression in the brain regulates energy balance and glucose homeostasis.

KSR2 KSR1

1.59e-052139228180061
Pubmed

USP15 promotes the apoptosis of degenerative nucleus pulposus cells by suppressing the PI3K/AKT signalling pathway.

USP15 FKBP5

1.59e-052139233135363
Pubmed

PPARalpha gene expression is up-regulated by LXR and PXR activators in the small intestine.

PPARA NR1H4

1.59e-052139218448072
Pubmed

Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues.

ADCY5 ADCY6

1.59e-052139210481931
Pubmed

Concomitant PPARα and FXR Activation as a Putative Mechanism of NASH Improvement after Gastric Bypass Surgery: a GEO Datasets Analysis.

PPARA NR1H4

1.59e-052139230206765
Pubmed

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

SCN1A SCN2A SCN8A

1.74e-0513139315123669
Pubmed

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

BBS1 BBS2 PCM1

1.74e-0513139322500027
Pubmed

Latent CSN-CRL complexes are crucial for curcumin-induced apoptosis and recruited during adipogenesis to lipid droplets via small GTPase RAB18.

CUL4B USP48 USP15

2.74e-0515139337091236
InteractionEPHA1 interactions

TNPO1 EP400 XPO4 HUWE1 NUP205 GSDME PES1 SMG9 ALK DYNC1H1

3.01e-0623513010int:EPHA1
InteractionOPALIN interactions

RTTN INTS1 XPO4 NUP205 DOCK5 SLC7A2 UTP20 RUSF1 DOP1B

8.70e-062091309int:OPALIN
InteractionCD70 interactions

INTS1 XPO4 ADCY6 NUP205 SLC7A1 GSDME NUP133 UTP20

1.24e-051661308int:CD70
InteractionSCN4B interactions

SCN1A SCN2A SCN8A

1.43e-0581303int:SCN4B
InteractionPPP2R3C interactions

RABL2B SMG9 IKBKB DYNC1H1 PCM1

1.74e-05501305int:PPP2R3C
InteractionMYCBP2 interactions

CUL4B HUWE1 NR1D1 TLR10 DOCK5 STK3 DOCK7 MACF1 USP15 DYNC1H1 PCM1

1.95e-0535513011int:MYCBP2
InteractionCOMTD1 interactions

TNPO1 INTS1 XPO4 PPP4R3A NUP205 CDK5RAP3 GSDME NUP133

4.72e-052001308int:COMTD1
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN2A SCN8A

1.31e-0599931203
GeneFamilyBardet-Biedl syndrome associated|BBSome

IFT172 BBS1 BBS2

1.97e-0421993980
GeneFamilyMitogen-activated protein kinase kinase kinases|RAF family

KSR2 KSR1

2.94e-0459921157
GeneFamilyRAB like GTPases

RABL2B RABL2A

2.94e-045992394
GeneFamilyAdenosine deaminase family

AMPD1 AMPD2

4.39e-0469921302
GeneFamilyBardet-Biedl syndrome associated|BBSome

BBS1 BBS2

8.13e-0489921122
GeneFamilyG protein-coupled receptors, Class A orphans

MRGPRD GPR26 GPR139 GPR61

8.85e-0478994262
GeneFamilyAdenylate cyclases|Deafness associated genes

ADCY5 ADCY6

1.30e-031099253
GeneFamilyNuclear hormone receptors

PPARA NR1D1 NR1H4

2.44e-034999371
GeneFamilySecretoglobins

SCGB1C2 SCGB1C1

2.59e-0314992734
GeneFamilyRhomboid family

RHBDD1 UBAC2

2.59e-0314992926
ToppCell3'-Broncho-tracheal-Epithelial-Epithelial_transtional-secretory-nasal_mucosa_goblet_cell-Goblet_(nasal)-Goblet_(nasal)_L.0.2.2.1|3' / 5'-vs-3', Tissue groups, Lineages, Lineage subclass, Cell_type2, Cell_subtype2_L4.5

EYA4 IFT172 SLC13A3 ADGB CFAP54 RABL2A DNAH12

1.31e-061761387dee780cfa85234a7cd7bf440b66b84cec959893e
ToppCellControl-Epithelial_cells-AT2|Control / group, cell type (main and fine annotations)

TANC2 FREM2 SLC7A2 FASN SCN1A SCTR ACOXL

1.52e-061801387198b19e7910b4a8cc7e820c525ab357c7f99f578
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

STK36 TMPRSS15 TEX11 RYR3 FREM2 SCN2A ATP1A4

1.76e-0618413872cbed6462fea2622871bb7e49b0df3d984239281
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

STK36 TMPRSS15 TEX11 RYR3 FREM2 SCN2A ATP1A4

1.76e-061841387ea7a7e2bac46d4d2c31a5d576b38a032b5335062
ToppCellfacs-Thymus-Thymus_Epithelium-18m-Lymphocytic-proliferating_thymocyte;_DN_to_DP_transition,_dividing_(some_are_Cd8+/_Cd4+,_some_undergoing_VDJ_recombination)|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation

STK36 TMPRSS15 TEX11 RYR3 FREM2 SCN2A ATP1A4

1.76e-0618413872b19a8c5f823e00812908b23e66bb4e563278aff
ToppCellAdult-Epithelial-alveolar_epithelial_cell_type_2-D175|Adult / Lineage, Cell type, age group and donor

TANC2 SLC7A1 SLC7A2 SCN1A SCTR MCTP2 ACOXL

2.03e-061881387ec38def1fdbb34ed9b30244806975bd5a4370164
ToppCellnucseq-Epithelial-Epithelial_Alveolar-AT2-AT2|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

TANC2 FREM2 SLC7A2 FASN SCN1A SCTR ACOXL

2.42e-061931387fd4d3c0d7caf8a2fff5b3d901fc28d19a8163cdf
ToppCellnucseq-Epithelial-Epithelial_Alveolar-AT2|nucseq / Celltype signatures by Technology, Lineage, Lineage_subclass, Celltype_group, Cell_type2

TANC2 FREM2 SLC7A2 FASN SCN1A SCTR ACOXL

2.42e-061931387f3cc7cfdbc164a4ed42f87647111522b7d393bcb
ToppCellmoderate-Epithelial-Ciliated|Epithelial / Severity, Lineage and Cell class of Nasopharyngeal (NS) Samples from Patients and Controls

KLHL6 SLC13A3 ADGB CFAP54 RABL2B RABL2A DNAH12

2.59e-0619513873486eae5fdb062a75a907b896c9d7b396d2aa195
ToppCellmoderate-Epithelial-Ciliated|moderate / Severity, Lineage and Cell class of Nasopharyngeal (NS) Samples from Patients and Controls

SLC13A3 ADGB SLC7A2 CFAP54 RABL2B RABL2A DNAH12

2.59e-061951387e80f5cdf0b18066b3e6c2f5452e58f101c67932c
ToppCellFetal_brain-organoid_Tanaka_cellReport-GW09-Macroglial-Glia_progenitor_cell|GW09 / Sample Type, Dataset, Time_group, and Cell type.

INTS1 ASB14 PREX2 TPCN1 KCNH6 SLC7A1 FKBP5

2.68e-0619613877be50b9156394dea44d7b8b476d4dd516abfafae
ToppCellE16.5-samps-Mesenchymal-Matrix_fibroblast-_fetal-Mature_Fibroblast_1|E16.5-samps / Age Group, Lineage, Cell class and subclass

NR1D1 PREX2 RYR3 GYG1 MACF1 NR1H4

1.19e-051631386f1ec2625b52664308968b01d8e0275e1e0751480
ToppCelldroplet-Lung-LUNG-30m-Myeloid-plasmacytoid_dendritic_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

KSR2 KMO FDPS AACS MCTP2 ATP4A

1.42e-051681386e156297a7515e785a9e79a9676700bd3a9d92b98
ToppCelldroplet-Lung-LUNG-30m-Myeloid-Plasmacytoid_Dendritic|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation

KSR2 KMO FDPS AACS MCTP2 ATP4A

1.42e-05168138632e0bc0873baa13027241063283ef26d2aab56f5
ToppCellrenal_cortex_nuclei-Adult_normal_reference-Epithelial-Proximal_tubule_epithelial_cell-kidney_proximal_tubule_epithelial_cell-Proximal_Tubule_Epithelial_Cell_Segment_1_/_Segment_2|Adult_normal_reference / Celltypes from Cells and Nuclei per compartment and clinical group

NPL SLC13A3 PPARA TPCN1 KCNH6 FKBP5

2.09e-051801386f8bdfd7bf7b3d52c659a29d8f5f80858e79da83e
ToppCellrenal_cortex_nuclei-Hypertensive_with+without-CKD-Epithelial-Proximal_tubule_epithelial_cell-kidney_proximal_tubule_epithelial_cell-Proximal_Tubule_Epithelial_Cell_Segment_1_/_Segment_2|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

NPL RTTN SLC13A3 PPARA KMO TPCN1

2.30e-051831386facd6dbe0851b537d70a899ac7485714ab27d071
ToppCellrenal_cortex_nuclei-Renal_AKI_(acute_kidney_injury)-Epithelial-Proximal_tubule_epithelial_cell-kidney_proximal_tubule_epithelial_cell-Proximal_Tubule_Epithelial_Cell_Segment_1_/_Segment_2|Renal_AKI_(acute_kidney_injury) / Celltypes from Cells and Nuclei per compartment and clinical group

NPL SLC13A3 PPARA KMO TPCN1 KCNH6

2.30e-05183138684b64cf728629c3af9a8d2ed15b93adf562c54b8
ToppCellPrimary_Visual_cortex_(V1C)-Neuronal-Inh_GABAergic-i_Gaba_1-GABA_L1_LAMP5-Inh_L5-6_LAMP5_SFTA3_(Lamp5_Lhx6_2)|Primary_Visual_cortex_(V1C) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

EYA4 SSTR4 PREX2 FREM2 SLC7A2 ALK

2.37e-051841386e2de27cee3ea80f9b7a9a7884ceceeaa67b3214a
ToppCellrenal_papilla_nuclei-Hypertensive_with+without-CKD-Epithelial-Intermediate_tubule_epithelial_cell-kidney_loop_of_Henle_thin_descending_limb_epithelial_cell-Degenerative_Descending_Thin_Limb_Cell_Type_3|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

TANC2 DENND4A ADCY5 CFAP54 SCTR MCTP2

2.59e-051871386c31130fc2f9f882944b2ba366a034a03f051c4b9
ToppCellCD8+_Memory_T_cell-CV-7|CD8+_Memory_T_cell / cell class, Virus stimulation and cluster

ANKFY1 XPO4 HUWE1 MACF1 MCTP2 DOP1B

2.92e-0519113869454f642c3621370fa23640b631301346b300950
ToppCellCOVID-19-lung-AT2|lung / Disease (COVID-19 only), tissue and cell type

TANC2 FREM2 FASN SCN1A SCTR ACOXL

2.92e-051911386276455a64c2c3503d5048615762eb2ee37f0ac70
ToppCellChildren_(3_yrs)-Epithelial-alveolar_epithelial_cell_type_2-D139|Children_(3_yrs) / Lineage, Cell type, age group and donor

FREM2 SLC7A2 FASN FDPS SCN1A ACOXL

3.01e-051921386cc9911e182a289779a2612bc213daae5607689e7
ToppCellAdult-Epithelial-alveolar_epithelial_cell_type_2-D122|Adult / Lineage, Cell type, age group and donor

FREM2 FASN FDPS SCN1A SCTR ACOXL

3.01e-05192138606013a07e3a873b1d1c0451643c528593ac32a9c
ToppCellAdult-Epithelial-alveolar_epithelial_cell_type_2|Adult / Lineage, Cell type, age group and donor

TANC2 FREM2 FASN SCN1A SCTR ACOXL

3.10e-051931386738f4f0a9ddde2432b429ab46838e353b1790589
ToppCellPosterior_cortex-Neuronal|Posterior_cortex / BrainAtlas - Mouse McCarroll V32

KSR2 PCNX2 SLC6A7 GPR61 SCN2A SCN8A

3.10e-051931386b4989e3436e84dbec3789b46057e0f7a0ebf09d4
ToppCellAnterior_Cingulate_gyrus_(CgG)-Neuronal-Inh_GABAergic-i_Gaba_1-GABA_L1_LAMP5-Inh_L6_LAMP5_C1QL2|Anterior_Cingulate_gyrus_(CgG) / Sample groups (6 Anatomical region groups), with 5 level hierarchy of cell types

EYA4 SSTR4 PREX2 DOCK5 SLC7A2 ALK

3.10e-05193138664a37dae3d631713b06d94691f5dcdb200dfef5e
ToppCellcritical-Epithelial-Ciliated|critical / Severity, Lineage and Cell class of Nasopharyngeal (NS) Samples from Patients and Controls

ADGB SLC7A2 CFAP54 RABL2B RABL2A DNAH12

3.38e-05196138627b855c6e1ae44f16db998cf0e81bd686b9cee7e
ToppCellNS-control-d_0-4-Epithelial-Ciliated|d_0-4 / Location, Severity, dps_group, Lineage and Cell class of Upper airway (combined)

KLHL6 ADGB CFAP54 RABL2B RABL2A DNAH12

3.38e-051961386d46ab80554dd3c1cc81e1938ea2acfd5e85c6d2a
ToppCellrenal_papilla_nuclei-Hypertensive_with+without-CKD-Epithelial|Hypertensive_with+without-CKD / Celltypes from Cells and Nuclei per compartment and clinical group

TANC2 ADCY5 SLC7A1 SCN2A SCTR NR1H4

3.47e-0519713867e93a97b5ac5ae2f77a4b3141082a1463fed00dd
ToppCellcontrol-Epithelial-Ciliated|Epithelial / Severity, Lineage and Cell class of Nasopharyngeal (NS) Samples from Patients and Controls

KLHL6 ADGB CFAP54 RABL2B RABL2A DNAH12

3.47e-051971386e453d085182364ca347cbcc9dc995c62c3353016
ToppCellcontrol-Epithelial-Ciliated|control / Severity, Lineage and Cell class of Nasopharyngeal (NS) Samples from Patients and Controls

KLHL6 ADGB CFAP54 RABL2B RABL2A DNAH12

3.47e-051971386d4e963c1f82996371bf3d63578ee9fce8e00c5a8
ToppCellParenchymal-NucSeq-Epithelial-Epi_alveolar-AT2|NucSeq / Cell types per location group and 10X technology with lineage, and cell group designations

TANC2 FREM2 FASN SCN1A SCTR ACOXL

3.57e-0519813862e2a4e1756bba6f4fbe529559a97d2993c890b4b
ToppCellBiopsy_IPF-Epithelial-Ciliated|Biopsy_IPF / Sample group, Lineage and Cell type

IFT172 ADGB CFAP54 RABL2B RABL2A DNAH12

3.78e-052001386bb8c99156e547a8eb6599b6b6bc3c66bf77af7f8
ToppCellkidney_cells-CKD+DKD_normotensive-Epithelial-Proximal_tubule_epithelial_cell-kidney_proximal_tubule_epithelial_cell-Proximal_Tubule_Epithelial_Cell_Segment_1_/_Segment_2|CKD+DKD_normotensive / Celltypes from Cells and Nuclei per compartment and clinical group

CUL4B CYP4V2 SLC13A3 PPARA ADCY6

8.91e-05145138547a3bb973a508d3097213a2d86ad1ce697af9bae
DrugCimetidine [51481-61-9]; Down 200; 15.8uM; PC3; HT_HG-U133A

TMPRSS15 ANKFY1 SSTR4 PREX2 PPP4R3A PCNX2 SLC7A1 SIDT2 GPC3

3.00e-0619613794063_DN
Diseaseepilepsy (implicated_via_orthology)

SLC13A3 KCNH6 SCN1A SCN2A SCN8A ATP1A4 ATP4A DYNC1H1

8.43e-071631348DOID:1826 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN2A SCN8A

1.07e-05101343DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN2A SCN8A

1.07e-05101343DOID:0080422 (implicated_via_orthology)
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN2A SCN8A

1.96e-05121343DOID:0060170 (implicated_via_orthology)
DiseaseBenign familial infantile epilepsy

SCN2A SCN8A

6.12e-0531342cv:C5575231
DiseaseNeurodevelopmental Disorders

TANC2 ADCY5 SCN1A SCN2A SCN8A

6.76e-05931345C1535926
DiseasePolydactyly

IFT172 BBS1 BBS2 FREM2 GPC3

2.00e-041171345C0152427
Diseasepontocerebellar hypoplasia (implicated_via_orthology)

AMPD1 AMPD2

2.03e-0451342DOID:0060264 (implicated_via_orthology)
DiseaseFamilial benign neonatal epilepsy

SCN2A SCN8A

3.03e-0461342C0220669
Diseasefree androgen index

CYP3A7 PPARA ADCY6 GPR139 DOCK5 SIDT2 USP48 NR1H4

3.22e-043741348EFO_0007005
DiseaseNEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE

ANKFY1 NUP205 NUP133

3.40e-04301343C1868672
Diseasefamilial hemiplegic migraine (implicated_via_orthology)

ATP1A4 ATP4A

4.24e-0471342DOID:0060178 (implicated_via_orthology)
DiseaseSeizure, Febrile, Simple

SCN1A SCN2A

4.24e-0471342C0149886
DiseaseSeizure, Febrile, Complex

SCN1A SCN2A

4.24e-0471342C0751057
DiseaseFebrile Convulsions

SCN1A SCN2A

7.22e-0491342C0009952
DiseaseGeneralized Epilepsy with Febrile Seizures Plus

SCN1A SCN2A

7.22e-0491342C3502809
DiseaseMesothelioma

GPC3 EID1 MYO18B

8.60e-04411343C0025500
DiseaseMuscle Weakness

AMPD1 GYG1

8.99e-04101342C0151786
Diseasecystic kidney disease (implicated_via_orthology)

EPHB4 IFT172

8.99e-04101342DOID:2975 (implicated_via_orthology)
Diseasecircadian rhythm

NPL DENND1A SCN8A PDIA2 ANP32E

9.10e-041631345EFO_0004354
Diseasecocaine use

CLOCK SCN1A

1.10e-03111342C3496069
Diseaseearly infantile epileptic encephalopathy (implicated_via_orthology)

CDK5RAP3 SCN8A

1.10e-03111342DOID:0050709 (implicated_via_orthology)
DiseaseBardet-Biedl syndrome (implicated_via_orthology)

BBS1 BBS2

1.10e-03111342DOID:1935 (implicated_via_orthology)
DiseaseDrugs used in diabetes use measurement

KSR2 ADCY5 PPP4R3A SCTR MACF1 ACOXL

1.12e-032551346EFO_0009924
Diseasenervous system disease (implicated_via_orthology)

ATP1A4 ATP4A

1.31e-03121342DOID:863 (implicated_via_orthology)
DiseaseRetinitis Pigmentosa

CYP4V2 IFT172 BBS1 BBS2

1.32e-031041344C0035334
Diseasefetal genotype effect measurement, body weights and measures

ADCY5 GPR139 FKBP5

1.45e-03491343EFO_0004324, EFO_0007959
Diseasehepatocellular carcinoma (implicated_via_orthology)

PPARA GPC3 NR1H4

1.45e-03491343DOID:684 (implicated_via_orthology)
DiseaseInfantile Severe Myoclonic Epilepsy

SCN1A SCN2A

1.55e-03131342C0751122
DiseaseEpilepsy

TANC2 SCN1A SCN2A SCN8A

1.57e-031091344C0014544
DiseaseBardet-Biedl syndrome (is_implicated_in)

BBS1 BBS2

1.80e-03141342DOID:1935 (is_implicated_in)
Diseasepolycystic kidney disease (implicated_via_orthology)

ANKS6 IFT172

1.80e-03141342DOID:0080322 (implicated_via_orthology)
Diseasebody weight

RTTN KSR2 BBS2 HUWE1 TEX11 DENND1A ADCY5 ADCY6 GPR139 SLC7A1 FASN DNAH12 GYG1 PCM1

1.82e-03126113414EFO_0004338
Diseaselifestyle measurement, alcohol consumption measurement

DENND1A GPR139 NUP205 CFAP54

1.90e-031151344EFO_0007878, EFO_0010724
DiseaseMMR-related febrile seizures

SCN1A SCN2A

2.07e-03151342EFO_0006519
Diseaseplatelet storage pool deficiency (implicated_via_orthology)

DOCK7 RAB27A

2.07e-03151342DOID:2223 (implicated_via_orthology)
DiseaseSeasonal Affective Disorder

NR1D1 CLOCK

2.36e-03161342C0085159
DiseaseEarly infantile epileptic encephalopathy with suppression bursts

SCN1A SCN2A

2.36e-03161342C0393706
Diseaseplatelet component distribution width

EPHB4 RTTN TEX11 ADCY5 DOCK5 SIDT2 DOCK7 MACF1 USP15 ACOXL

2.40e-0375513410EFO_0007984
DiseaseObesity

KSR2 BBS1 BBS2 PPARA FASN

2.49e-032051345C0028754
DiseaseGlycogen storage disease

PHKB GYG1

2.66e-03171342cv:C0017919
DiseaseBardet-Biedl syndrome 1 (disorder)

BBS1 BBS2

2.66e-03171342C2936862
Diseasealcoholic hepatitis (biomarker_via_orthology)

PPARA NR1H4

2.99e-03181342DOID:12351 (biomarker_via_orthology)
DiseaseFebrile seizure (within the age range of 3 months to 6 years)

SCN1A SCN2A

2.99e-03181342HP_0002373
DiseaseBardet-Biedl syndrome

BBS1 BBS2

2.99e-03181342cv:C0752166
DiseaseDiabetes Mellitus, Non-Insulin-Dependent

KSR2 PPARA ADCY5 SCTR USP48

3.44e-032211345C0011860
DiseaseProfound Mental Retardation

FASN SCN1A SCN8A DYNC1H1

3.77e-031391344C0020796
DiseaseMental Retardation, Psychosocial

FASN SCN1A SCN8A DYNC1H1

3.77e-031391344C0025363
DiseaseMental deficiency

FASN SCN1A SCN8A DYNC1H1

3.77e-031391344C0917816
Diseasepalmitoylcarnitine measurement

ATP1A4 ACOXL

4.06e-03211342EFO_0021044
DiseaseIntellectual Disability

TANC2 RTTN FASN SCN1A SCN8A MACF1 DYNC1H1

4.42e-034471347C3714756
Diseaseanxiety disorder (implicated_via_orthology)

SCN1A SCN2A

4.46e-03221342DOID:2030 (implicated_via_orthology)

Protein segments in the cluster

PeptideGeneStartEntry
LIDSLFIMDQFKAAE

EP400

1031

Q96L91
AMNAEFEAAEQFDLL

CDCA5

236

Q96FF9
RLLDEMFDSTASQFL

CFAP54

396

Q96N23
LLMEAEDRLNFLLSE

CFAP54

2271

Q96N23
VADLVLMLIDASFGF

AGAP9

41

Q5VTM2
FEELRQEVALFAAAM

AACS

131

Q86V21
NFKFAFRAMVLDLEL

ADGB

861

Q8N7X0
VMTLNELFARFDKLA

ADCY6

401

O43306
SDIFQAVLFDDELLM

GSDME

311

O60443
MELLSAAKFFQLEAL

BTBD11

996

A6QL63
DSDMFINVDYLTELL

B3GALT5

156

Q9Y2C3
FKELEFLSMANVELS

ANP32E

41

Q9BTT0
NLDTFLDDMNFLLAL

AMPD1

236

P23109
ELLIQAGFDVNFMLD

ASB14

331

A6NK59
VMTLNELFARFDKLA

ADCY5

491

O95622
LREVFESMNLTAYDL

AMPD2

456

Q01433
VADLVLMLIDASFGF

BMS1

146

Q14692
AVAALMAFLFDLKAL

SLC7A2

396

P52569
IMDTSTFLLRFILDD

ATG2A

1146

Q2TAZ0
FLAFNMDTVDDLAFL

ACOXL

421

Q9NUZ1
FEDSEELAALQMLFS

ALG1L

106

Q6GMV1
GTINEAFLFEDMITL

CCNB3

1001

Q8WWL7
EIQEAFLFFMASILK

DENND4A

561

Q7Z401
DAMGFLLLFDLTNEQ

RAB27A

91

P51159
ANVEEAFFTLARDIM

RAB8B

156

Q92930
LLNRTALFEVMFSEE

PPP4R3A

201

Q6IN85
EFSAEENFLILTEMA

NR1H4

291

Q96RI1
DEAMAELAIADNVFL

NUP205

356

Q92621
ELAIADNVFLFLMES

NUP205

361

Q92621
IFADSECLLLSVMAF

OR5W2

106

Q8NH69
DFMDEIFQELENFSL

RABL2A

186

Q9UBK7
DFMDEIFQELENFSL

RABL2B

186

Q9UNT1
ALSIDDMLVEANFIL

RAD9B

256

Q6WBX8
DMLVEANFILATLAD

RAD9B

261

Q6WBX8
DDVFLTELMKLANRF

ANKFY1

131

Q9P2R3
ASESFLLAAFLNLAM

FKBP5

311

Q13451
LAALASDFSEDMLQE

NUP133

976

Q8WUM0
LRDVASESVALFFML

GPR61

36

Q9BZJ8
SESVALFFMLLLDLT

GPR61

41

Q9BZJ8
LEAANLFQFLRMVDA

KLHL6

146

Q8WZ60
FMGSAFVILSDLELN

MCTP2

271

Q6DN12
ILTEFMENGALDSFL

EPHB4

691

P54760
TLAMDTILANARFFD

GNPDA1

161

P46926
TLDMDLVFLFDNSKI

IKBKB

381

O14920
FLAMVFQDLLTNKDD

INTS1

476

Q8N201
LYLEDSDFLENLMST

NUDT19

311

A8MXV4
INVDDMVNELFDSLF

GPC3

161

P51654
LQAFFLVADDIMDSS

FDPS

161

P14324
EVLELFLDPAFFQMD

DOP1B

1971

Q9Y3R5
DFEEMNLSLLSARSF

KSR2

631

Q6VAB6
AFDLQQMIDEIFLSS

TMPRSS15

86

P98073
ATDMDSDDSLLLFVL

FREM2

586

Q5SZK8
DFLLFGVLFEATMID

FER1L4

426

A9Z1Z3
AVIMFILNFEDLAQL

KCNH6

121

Q9H252
FDQLAFIEELFSLMV

EID1

156

Q9Y6B2
LAAFLDTFLAANSML

GPR26

81

Q8NDV2
ISEVLFNELAFFKLM

PCM1

1676

Q15154
DISESFLLDFFMVSI

PCNX2

1261

A6NKB5
AFDLQERPSFSLLMD

KSR1

861

Q8IVT5
TQLNELLLFVAAAFM

OR3A3

201

P47888
LLESSVLVAMAFDRF

OR51T1

111

Q8NGJ9
FFFLSNDEMLEILSE

DNAH12

996

Q6ZR08
LNLAAADLLFLFSMA

MRGPRD

66

Q8TDS7
LLEEAAALNLSIMFD

GDPD2

341

Q9HCC8
DVATFLALAQDALDM

PDIA2

186

Q13087
DSFLLAVMAIDRFVA

OR1I1

111

O60431
LIIEFDNMFSSATDI

HUWE1

2491

Q7Z6Z7
LEEALLFSGQFMDAL

MACF1

6656

Q9UPN3
NMAFIFLNRFLDLTD

IFT172

1591

Q9UG01
YFISELADMDNFLLA

OR1F2P

101

Q96R84
ILFLNEACLFEIMFS

PPP4R3C

201

Q6ZMV5
LLSAMFDFSEKLNSL

NR1D1

516

P20393
EMIFNLADTHLFFND

EYA4

411

O95677
MDADTLVLANIDDLF

GYG1

101

P46976
VFDELMDKFSNDLSL

KMO

326

O15229
DIIQSMASFFAIEDL

BBS2

566

Q9BXC9
EVLTRFFMDQASFEL

DOCK5

1026

Q9H7D0
FFLNDLLSVMDRGFV

DOCK7

1076

Q96N67
NQFLDELMELEIFLA

CDK5RAP3

351

Q96JB5
AFDLVMLLNDPDTEL

ANKS6

396

Q68DC2
FTILEDFLDIMNEQA

CYP4V2

156

Q6ZWL3
ASIDLLEDVFSNLDM

DENND1A

566

Q8TEH3
EDVLSTDMIFNNFLA

DYNC1H1

2366

Q14204
ENVAAIFLGLLDFFM

CCDC168

2256

Q8NDH2
SDLELMAQSIIFIFA

CYP3A7

291

P24462
VFVDFLLEDFILNMQ

GPR139

81

Q6DWJ6
QDLAFLSMLNDIAAV

FASN

446

P49327
SLRFLQLELSEMEAF

BBS1

171

Q8NFJ9
FLFLSGLIMASAIEE

SLC13A3

91

Q8WWT9
AADMILLDDNFASIV

ATP4A

756

P20648
LVLLMFNEGEEFSLE

CUL4B

751

Q13620
FIVNLALADLCMAAF

TACR2

71

P21452
NNEVIFMALDLASLA

DHRS13

86

Q6UX07
DLSDFYMSQDVFLLI

PHKB

581

Q93100
DNTLLTEFILFLMAV

OR9A2

186

Q8NGT5
NFLLLGFAEDSDMQL

OR7C2

11

O60412
DMSTAELTDFILAIF

OR6A2

196

O95222
FFELDAMDHLQSFIA

LUC7L2

81

Q9Y383
FAMKFNALELDDSDI

PPARA

361

Q07869
MDLTLFAAEAIALNR

MKNK1

396

Q9BUB5
FLFGVDEQLLSALVM

NPL

196

Q9BXD5
LFADILNDVAMFLEI

RUSF1

166

Q96GQ5
LIALFDTLLLNFMEV

RTTN

1211

Q86VV8
SDKNALFNLMFLDLD

UTP20

201

O75691
DMFLDLLNFAAETLV

TRMT11

351

Q7Z4G4
AMFGSFLVLLTLDDD

SIDT2

806

Q8NBJ9
LLQFAVAEFMDEPDF

RHBDD1

121

Q8TEB9
MALRELNIAFNFLTD

TLR10

466

Q9BXR5
ELMDFITQNLFTGLD

OVCH1

286

Q7RTY7
SLLDLFLDMEAATGQ

PSMD11

91

O00231
NDEFFMDFLQTLLVG

SCGB1C2

26

P0DMR2
FLDSEVNLFLVPFMD

SMG9

421

Q9H0W8
LLNLAVADELFMLSV

SSTR4

86

P31391
VDFLLAQGASIALMD

TANC2

1116

Q9HCD6
FIQAADLLMADFKVL

RNF216

371

Q9NWF9
SFMDLKALLSSLNDF

NIF3L1

26

Q9GZT8
MNDSLFVSLDRLLLE

SIX6OS1

1

Q8N1H7
MLLTLGLDSQFAFLE

SLC6A7

391

Q99884
QLLCFPFALDMDADL

STK36

986

Q9NRP7
FMILLSSGALAFEDI

SCN1A

1226

P35498
ELDFLMEALIISKFN

ALK

1161

Q9UM73
MLLEQFSFDIAEEAS

ADAM17

316

P78536
AADMILLDDNFASIV

ATP1A4

751

Q13733
TQLMLEALDGFFLAI

CLOCK

111

O15516
DFDFLKNLSLEELQM

STK3

436

Q13188
IDNVAILFNFLMDFL

XPO4

821

Q9C0E2
TFIDALRDLDDALSM

PES1

126

O00541
AAVMAFLFDLKDLVD

SLC7A1

396

P30825
ADSDQLFRMVAEVFI

RYR3

3286

Q15413
SPEDAMEIQLFFELA

SCTR

361

P47872
FMILLSSGALAFEDI

SCN2A

1216

Q99250
LVGEVMEFLADLLFF

TTC41P

986

Q6P2S7
LVDFPINDLDMSEFL

USP15

851

Q9Y4E8
FMILLSSGALAFEDI

SCN8A

1206

Q9UQD0
AFEQTMFLSRALEEI

TEX11

701

Q8IYF3
EQAMLEDTLVALFDL

PREX2

1331

Q70Z35
NDEFFMDFLQTLLVG

SCGB1C1

26

Q8TD33
AEAQLAELDLLASMF

RWDD2B

36

P57060
ALMLHIDSFIENLFA

TNPO1

216

Q92973
FLVFSQMLAGLDLDL

MYO18B

756

Q8IUG5
MASSAELDFNLQALL

PYDC2

1

Q56P42
AMFFNRLSLEFLAIE

TMEM262

96

E9PQX1
IMNLLLAVVFDTFND

TPCN1

311

Q9ULQ1
AEIMLFSLDLLLFST

VN1R5

11

Q7Z5H4
VLSALFDFLLIEAMQ

UBAC2

101

Q8NBM4
DAQEFSKLFMSLLED

USP48

181

Q86UV5