Cluster composition

Functions

CategoryNameIntersectionWithQueryPValueGenesInTermGenesInQueryGenesInTermInQueryID
GeneOntologyMolecularFunctionDNA helicase activity

ERCC3 SUPV3L1 MCM9 CHD8 XRCC5

4.92e-0662805GO:0003678
GeneOntologyMolecularFunctionATP-dependent activity, acting on DNA

ERCC3 SUPV3L1 MCM9 CHD9 CHD8 XRCC5

1.20e-05127806GO:0008094
GeneOntologyMolecularFunctionhelicase activity

ERCC3 SUPV3L1 MCM9 CHD9 CHD8 XRCC5

4.14e-05158806GO:0004386
GeneOntologyMolecularFunctionATP hydrolysis activity

ABCG4 ERCC3 DNAH12 CCT5 SUPV3L1 MCM9 CHD9 CHD8 XRCC5

6.67e-05441809GO:0016887
GeneOntologyMolecularFunctioncatalytic activity, acting on DNA

ERCC3 SUPV3L1 MCM9 CHD9 CHD8 XRCC5 POLK

8.68e-05262807GO:0140097
GeneOntologyMolecularFunctionN-acetylglucosamine 6-O-sulfotransferase activity

CHST5 CHST4

3.29e-047802GO:0001517
GeneOntologyMolecularFunctiondamaged DNA binding

ERCC3 XPA XRCC5 POLK

3.61e-0484804GO:0003684
GeneOntologyMolecularFunctionATP-dependent activity

ABCG4 ERCC3 DNAH12 CCT5 SUPV3L1 MCM9 CHD9 CHD8 XRCC5

7.70e-04614809GO:0140657
GeneOntologyBiologicalProcessDNA duplex unwinding

ERCC3 SUPV3L1 MCM9 CHD8 XRCC5

1.16e-0578785GO:0032508
GeneOntologyBiologicalProcessDNA geometric change

ERCC3 SUPV3L1 MCM9 CHD8 XRCC5

1.86e-0586785GO:0032392
GeneOntologyBiologicalProcessDNA conformation change

ERCC3 SUPV3L1 MCM9 CHD8 XRCC5

2.87e-0594785GO:0071103
GeneOntologyBiologicalProcesscellular response to sorbitol

MAPK13 MAP2K3

8.43e-054782GO:0072709
DomainMaf_N

NRL MAF

9.00e-054732PF08383
DomainMaf_TF_N

NRL MAF

9.00e-054732IPR013592
Domain-

MPP1 RABL6 ABCG4 CHST5 ERCC3 DNAH12 SUPV3L1 CHST4 MCM9 CHD9 CHD8

1.42e-0474673113.40.50.300
DomainBRK

CHD9 CHD8

2.24e-046732SM00592
DomainNa_trans_cytopl

SCN1A SCN8A

2.24e-046732PF11933
DomainBRK_domain

CHD9 CHD8

2.24e-046732IPR006576
DomainBRK

CHD9 CHD8

2.24e-046732PF07533
DomainNa_trans_cytopl

SCN1A SCN8A

2.24e-046732IPR024583
DomainTransciption_factor_Maf_fam

NRL MAF

3.12e-047732IPR024874
DomainCarbohydrate_sulfotransferase

CHST5 CHST4

3.12e-047732IPR016469
DomainP-loop_NTPase

MPP1 RABL6 ABCG4 CHST5 ERCC3 DNAH12 SUPV3L1 CHST4 MCM9 CHD9 CHD8

4.29e-048487311IPR027417
DomainNa_channel_asu

SCN1A SCN8A

6.64e-0410732IPR001696
DomainNa_trans_assoc

SCN1A SCN8A

6.64e-0410732IPR010526
DomainNa_trans_assoc

SCN1A SCN8A

6.64e-0410732PF06512
DomainHelicase_C

ERCC3 SUPV3L1 CHD9 CHD8

8.18e-04107734PF00271
DomainHELICc

ERCC3 SUPV3L1 CHD9 CHD8

8.18e-04107734SM00490
DomainHelicase_C

ERCC3 SUPV3L1 CHD9 CHD8

8.47e-04108734IPR001650
DomainHELICASE_CTER

ERCC3 SUPV3L1 CHD9 CHD8

8.77e-04109734PS51194
DomainHELICASE_ATP_BIND_1

ERCC3 SUPV3L1 CHD9 CHD8

8.77e-04109734PS51192
DomainOxysterol-bd

OSBPL11 OSBPL10

9.70e-0412732IPR000648
DomainOxysterol-bd_CS

OSBPL11 OSBPL10

9.70e-0412732IPR018494
DomainOxysterol_BP

OSBPL11 OSBPL10

9.70e-0412732PF01237
DomainOSBP

OSBPL11 OSBPL10

9.70e-0412732PS01013
DomainbZIP_Maf

NRL MAF

1.14e-0313732IPR004826
DomainbZIP_Maf

NRL MAF

1.14e-0313732PF03131
DomainChannel_four-helix_dom

CACNA1F SCN1A SCN8A

1.44e-0357733IPR027359
Domain-

CACNA1F SCN1A SCN8A

1.44e-03577331.20.120.350
DomainADH_N

MECR VAT1L

1.75e-0316732PF08240
DomainPKS_ER

MECR VAT1L

1.75e-0316732SM00829
Domain-

NRL MAF

1.75e-03167321.10.880.10
DomainPKS_ER

MECR VAT1L

1.75e-0316732IPR020843
DomainADH_N

MECR VAT1L

1.75e-0316732IPR013154
Domain-

MECR VAT1L

2.21e-03187323.90.180.10
DomainADH_zinc_N

MECR VAT1L

2.47e-0319732PF00107
DomainADH_SF_Zn-type

MECR VAT1L

2.47e-0319732IPR002085
DomainADH_C

MECR VAT1L

2.47e-0319732IPR013149
DomainBTB

IVNS1ABP LZTR1 BTBD10 ZBTB40

3.57e-03160734PS50097
PathwayKEGG_MEDICUS_REFERENCE_CORE_NER_REACTION

ERCC3 GTF2H4 XPA POLK

5.67e-0629584M47826
PathwayREACTOME_DUAL_INCISION_IN_GG_NER

ERCC3 GTF2H4 XPA POLK

2.33e-0541584M27595
PathwayREACTOME_DUAL_INCISION_IN_GG_NER

ERCC3 GTF2H4 XPA POLK

2.57e-0542584MM15306
PathwayREACTOME_DUAL_INCISION_IN_TC_NER

ERCC3 GTF2H4 XPA POLK

1.28e-0463584M27601
PathwayREACTOME_DUAL_INCISION_IN_TC_NER

ERCC3 GTF2H4 XPA POLK

1.28e-0463584MM15317
PathwayWP_DNA_REPAIR_PATHWAYS_FULL_NETWORK

ERCC3 GTF2H4 XPA XRCC5 POLK

1.31e-04120585M40049
PathwayKEGG_MEDICUS_REFERENCE_REGULATION_OF_GF_RTK_RAS_ERK_SIGNALING_RAS_UBIQUITINATION_BY_CUL3_COMPLEX

CUL3 LZTR1

2.47e-046582M47931
PathwayWP_NUCLEOTIDE_EXCISION_REPAIR_IN_XERODERMA_PIGMENTOSUM

ERCC3 GTF2H4 XPA POLK

2.52e-0475584M42538
PathwayREACTOME_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR_TC_NER

ERCC3 GTF2H4 XPA POLK

2.52e-0475584MM15316
PathwayREACTOME_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR_TC_NER

ERCC3 GTF2H4 XPA POLK

2.65e-0476584M27600
PathwayREACTOME_FORMATION_OF_THE_EARLY_ELONGATION_COMPLEX

ERCC3 GTF2H4 NELFB

3.30e-0433583MM14508
PathwayREACTOME_FORMATION_OF_THE_EARLY_ELONGATION_COMPLEX

ERCC3 GTF2H4 NELFB

3.30e-0433583M26919
PathwayREACTOME_GLOBAL_GENOME_NUCLEOTIDE_EXCISION_REPAIR_GG_NER

ERCC3 GTF2H4 XPA POLK

3.72e-0483584MM15305
PathwayREACTOME_GLOBAL_GENOME_NUCLEOTIDE_EXCISION_REPAIR_GG_NER

ERCC3 GTF2H4 XPA POLK

3.90e-0484584M27594
PathwayREACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER

ERCC3 GTF2H4 XPA

7.26e-0443583M1005
PathwayREACTOME_HIV_TRANSCRIPTION_ELONGATION

ERCC3 GTF2H4 NELFB

7.26e-0443583M29569
PathwayKEGG_NUCLEOTIDE_EXCISION_REPAIR

ERCC3 GTF2H4 XPA

7.77e-0444583M18937
PathwayWP_NUCLEOTIDE_EXCISION_REPAIR

ERCC3 GTF2H4 XPA

7.77e-0444583M39847
PathwayREACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER

ERCC3 GTF2H4 XPA

8.30e-0445583MM15302
PathwayPID_P38_GAMMA_DELTA_PATHWAY

MAPK13 MAP2K3

8.93e-0411582M209
PathwayREACTOME_TP53_REGULATES_TRANSCRIPTION_OF_DNA_REPAIR_GENES

ERCC3 GTF2H4 NELFB

9.42e-0447583MM15328
PathwayREACTOME_NUCLEOTIDE_EXCISION_REPAIR

ERCC3 GTF2H4 XPA POLK

1.01e-03108584M7927
PathwayREACTOME_NUCLEOTIDE_EXCISION_REPAIR

ERCC3 GTF2H4 XPA POLK

1.01e-03108584MM15304
PathwayREACTOME_FORMATION_OF_TC_NER_PRE_INCISION_COMPLEX

ERCC3 GTF2H4 XPA

1.20e-0351583M27599
PathwayREACTOME_FORMATION_OF_TC_NER_PRE_INCISION_COMPLEX

ERCC3 GTF2H4 XPA

1.20e-0351583MM15315
PathwayBIOCARTA_GATA3_PATHWAY

MAP2K3 MAF

1.47e-0314582MM1402
PathwayREACTOME_FORMATION_OF_RNA_POL_II_ELONGATION_COMPLEX

ERCC3 GTF2H4 NELFB

1.74e-0358583M805
PathwayREACTOME_FORMATION_OF_RNA_POL_II_ELONGATION_COMPLEX

ERCC3 GTF2H4 NELFB

1.82e-0359583MM14504
PathwayREACTOME_TP53_REGULATES_TRANSCRIPTION_OF_DNA_REPAIR_GENES

ERCC3 GTF2H4 NELFB

2.10e-0362583M27618
Pubmed

Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin gene clusters.

OR51B5 OR51V1 OR51B4 OR51J1

3.47e-081580411121057
Pubmed

Receptor-mediated clustering of FIP200 bypasses the role of LC3 lipidation in autophagy.

DOCK2 CUL3 ERCC3 LZTR1 YEATS4 CCT5 XPO6 XRCC5 MAP2K3

1.04e-0645480933226137
Pubmed

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

SCN1A SCN8A

5.23e-06280237901435
Pubmed

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

SCN1A SCN8A

5.23e-06280226410685
Pubmed

Associations between expression levels of nucleotide excision repair proteins in lymphoblastoid cells and risk of squamous cell carcinoma of the head and neck.

ERCC3 XPA

5.23e-06280229528139
Pubmed

MKK3 sustains cell proliferation and survival through p38DELTA MAPK activation in colorectal cancer.

MAPK13 MAP2K3

5.23e-06280231695024
Pubmed

Ectopic expression of a GlcNAc 6-O-sulfotransferase, GlcNAc6ST-2, in colonic mucinous adenocarcinoma.

CHST5 CHST4

5.23e-06280212107080
Pubmed

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

SCN1A SCN8A

5.23e-06280233411788
Pubmed

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

SCN1A SCN8A

5.23e-06280231943325
Pubmed

Systematic mutagenesis of TFIIH subunit p52/Tfb2 identifies residues required for XPB/Ssl2 subunit function and genetic interactions with TFB6.

ERCC3 GTF2H4

5.23e-06280236041630
Pubmed

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

SCN1A SCN8A

5.23e-06280237665666
Pubmed

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

SCN1A SCN8A

5.23e-06280217881658
Pubmed

E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins.

IVNS1ABP ZFYVE28 CACNA1F FRY UBR4 SCN8A NELFB XRCC5 CFAP44 NDUFS2

7.35e-06736801029676528
Pubmed

DNA damage recognition during nucleotide excision repair in mammalian cells.

ERCC3 GTF2H4 XPA

1.30e-052080310214908
Pubmed

Hdac4 Interactions in Huntington's Disease Viewed Through the Prism of Multiomics.

RABL6 PHKB FRY CCT5 UBR4 BTBD10 SCN8A CHD8

1.40e-0547580831040226
Pubmed

Distinct substrate specificities of human GlcNAc-6-sulfotransferases revealed by mass spectrometry-based sulfoglycomic analysis.

CHST5 CHST4

1.57e-05380230093410
Pubmed

Enzymatic synthesis in vitro of the disulfated disaccharide unit of corneal keratan sulfate.

CHST5 CHST4

1.57e-05380212218059
Pubmed

Oncogenic mutations of KRAS modulate its turnover by the CUL3/LZTR1 E3 ligase complex.

CUL3 LZTR1

1.57e-05380238453365
Pubmed

Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.

ERCC3 GTF2H4

1.57e-05380217466626
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 SCN8A

1.57e-05380232845893
Pubmed

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

SCN1A SCN8A

1.57e-05380228518218
Pubmed

Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.

SCN1A SCN8A

1.57e-05380224704313
Pubmed

Golgi localization of carbohydrate sulfotransferases is a determinant of L-selectin ligand biosynthesis.

CHST5 CHST4

1.57e-05380212855678
Pubmed

The sorting receptor Rer1 controls Purkinje cell function via voltage gated sodium channels.

SCN1A SCN8A

1.57e-05380228117367
Pubmed

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

SCN1A SCN8A

1.57e-05380217928448
Pubmed

Human Nav1.6 Channels Generate Larger Resurgent Currents than Human Nav1.1 Channels, but the Navβ4 Peptide Does Not Protect Either Isoform from Use-Dependent Reduction.

SCN1A SCN8A

1.57e-05380226182346
Pubmed

De novo SCN1A, SCN8A, and CLCN2 mutations in childhood absence epilepsy.

SCN1A SCN8A

1.57e-05380231054517
Pubmed

Cloning and characterization of a mammalian N-acetylglucosamine-6-sulfotransferase that is highly restricted to intestinal tissue.

CHST5 CHST4

1.57e-05380210491328
Pubmed

An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.

ERCC3 XPA

1.57e-05380219114557
Pubmed

Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk.

ERCC3 XPA XRCC5 POLK

1.89e-056880420496165
Pubmed

Synthetic Lethal and Resistance Interactions with BET Bromodomain Inhibitors in Triple-Negative Breast Cancer.

CUL3 ERCC3 CCT5 UBR4 NELFB CHD9 CHD8 XPA SIN3A XRCC5 MAP2K3

2.05e-051014801132416067
Pubmed

Variation within DNA repair pathway genes and risk of multiple sclerosis.

ERCC3 GTF2H4 XPA XRCC5

2.37e-057280420522537
Pubmed

Transforming growth factor-beta1 stimulates vascular endothelial growth factor 164 via mitogen-activated protein kinase kinase 3-p38alpha and p38delta mitogen-activated protein kinase-dependent pathway in murine mesangial cells.

MAPK13 MAP2K3

3.13e-05480215143069
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 SCN8A

3.13e-05480217537961
Pubmed

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

SCN1A SCN8A

3.13e-05480235031483
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 SCN8A

3.13e-05480229578003
Pubmed

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

SCN1A SCN8A

3.13e-05480221156207
Pubmed

Mouse all-cone retina models of Cav1.4 synaptopathy.

CACNA1F NRL

3.13e-05480237181655
Pubmed

Biogenesis of lysosome-related organelles complex 3 (BLOC-3): a complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.

HPS4 HPS3

3.13e-05480212847290
Pubmed

ORP10, a cholesterol binding protein associated with microtubules, regulates apolipoprotein B-100 secretion.

OSBPL11 OSBPL10

3.13e-05480222906437
Pubmed

Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome.

HPS4 HPS3

3.13e-05480217365864
Pubmed

Requirement of mitogen-activated protein kinase kinase 3 (MKK3) for activation of p38alpha and p38delta MAPK isoforms by TGF-beta 1 in murine mesangial cells.

MAPK13 MAP2K3

3.13e-05480212374793
Pubmed

Models for discovery of targeted therapy in genetic epileptic encephalopathies.

SCN1A SCN8A

3.13e-05480228742937
Pubmed

Structural basis for group A trichothiodystrophy.

ERCC3 GTF2H4

3.13e-05480219172752
Pubmed

Quality control by DNA repair.

ERCC3 GTF2H4 XPA

3.68e-052880310583946
Pubmed

Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.

ERCC3 XPA XRCC5 POLK

4.35e-058480419237606
Pubmed

A ubiquitin-based effector-to-inhibitor switch coordinates early brain, craniofacial, and skin development.

IVNS1ABP CUL3 LZTR1 BTBD10

5.00e-058780437495603
Pubmed

RIT1 oncoproteins escape LZTR1-mediated proteolysis.

CUL3 LZTR1

5.20e-05580230872527
Pubmed

Arsenic induces NAD(P)H-quinone oxidoreductase I by disrupting the Nrf2 x Keap1 x Cul3 complex and recruiting Nrf2 x Maf to the antioxidant response element enhancer.

CUL3 MAF

5.20e-05580216785233
Pubmed

GlcNAc6ST3 is a keratan sulfate sulfotransferase for the protein-tyrosine phosphatase PTPRZ in the adult brain.

CHST5 CHST4

5.20e-05580230867513
Pubmed

Activation of the c-myc p1 promoter in Burkitt's lymphoma by the hs3 immunoglobulin heavy-chain gene enhancer.

SIN3A MAF

5.20e-05580217287852
Pubmed

Functional interactions between p53 and the TFIIH complex are affected by tumour-associated mutations.

ERCC3 GTF2H4

5.20e-0558028612585
Pubmed

TFIIH transcription factor, a target for the Rift Valley hemorrhagic fever virus.

ERCC3 GTF2H4

5.20e-05580214980221
Pubmed

MKK6 deficiency promotes cardiac dysfunction through MKK3-p38γ/δ-mTOR hyperactivation.

MAPK13 MAP2K3

5.20e-05580235971771
Pubmed

alphaII-Spectrin interacts with five groups of functionally important proteins in the nucleus.

ERCC3 XPA XRCC5

6.66e-053480316889989
Pubmed

Fine mapping and association studies of a high-density lipoprotein cholesterol linkage region on chromosome 16 in French-Canadian subjects.

CHST5 VAT1L MAF

7.27e-053580319844255
Pubmed

Bidirectional regulation of neutrophil migration by mitogen-activated protein kinases.

FPR1 MAPK13

7.79e-05680222447027
Pubmed

KLHL39 suppresses colon cancer metastasis by blocking KLHL20-mediated PML and DAPK ubiquitination.

IVNS1ABP CUL3

7.79e-05680225619834
Pubmed

p52 Mediates XPB function within the transcription/repair factor TFIIH.

ERCC3 GTF2H4

7.79e-05680212080057
Pubmed

The intricate network between the p34 and p44 subunits is central to the activity of the transcription/DNA repair factor TFIIH.

ERCC3 GTF2H4

7.79e-05680228977422
Pubmed

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

CUL3 LZTR1

7.79e-05680230481304
Pubmed

LZTR1 facilitates polyubiquitination and degradation of RAS-GTPases.

CUL3 LZTR1

7.79e-05680231337872
Pubmed

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

SCN1A SCN8A

7.79e-05680223652591
Pubmed

Human mitogen-activated protein kinase kinase kinase mediates the stress-induced activation of mitogen-activated protein kinase cascades.

MAPK13 MAP2K3

7.79e-0568029841871
Pubmed

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

ZFYVE28 CHD8 VAT1L ANKH

8.94e-0510180410997877
Pubmed

TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation.

XPA TG

1.09e-0478029214635
Pubmed

Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis.

HPS4 HPS3

1.09e-04780218629000
Pubmed

BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor.

HPS4 HPS3

1.09e-04780223084991
Pubmed

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

SCN1A SCN8A

1.09e-04780225818041
Pubmed

Eukaryotic elongation factor 2 controls TNF-α translation in LPS-induced hepatitis.

MAPK13 MAP2K3

1.09e-04780223202732
Pubmed

Chromosomal localization and genomic organization for the galactose/ N-acetylgalactosamine/N-acetylglucosamine 6-O-sulfotransferase gene family.

CHST5 CHST4

1.09e-04780211181564
Pubmed

Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes.

SCN1A SCN8A

1.09e-04780215272007
Pubmed

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

ERCC3 XPA

1.09e-04780210447254
Pubmed

Identifications of novel host cell factors that interact with the receptor-binding domain of the SARS-CoV-2 spike protein.

PLCD3 CUL3 POGK SUPV3L1 OSBPL11 OSBPL10 CHD8 SIN3A

1.27e-0465080838777146
Pubmed

Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH.

ERCC3 GTF2H4

1.45e-0488029118947
Pubmed

Multistudy fine mapping of chromosome 2q identifies XRCC5 as a chronic obstructive pulmonary disease susceptibility gene.

CUL3 XRCC5

1.45e-04880220463177
Pubmed

Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH.

ERCC3 GTF2H4

1.86e-0498029130708
Pubmed

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

SCN1A SCN8A

1.86e-04980216382098
Pubmed

Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.

HPS4 HPS3

1.86e-04980210193444
Pubmed

Xeroderma Pigmentosum

ERCC3 XPA

1.86e-04980220301571
Pubmed

ORP/Osh mediate cross-talk between ER-plasma membrane contact site components and plasma membrane SNAREs.

OSBPL11 OSBPL10

1.86e-04980232734583
Pubmed

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

SCN1A SCN8A

1.86e-04980215746173
Pubmed

The Role of XPB/Ssl2 dsDNA Translocase Processivity in Transcription Start-site Scanning.

ERCC3 GTF2H4

1.86e-04980233453189
Pubmed

Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals.

SCN1A SCN8A

1.86e-04980217884088
Pubmed

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

IVNS1ABP CUL3 ZFYVE28 CCT5 HPS4 CHD8 ANKH

2.21e-0452980714621295
Pubmed

Interactome Rewiring Following Pharmacological Targeting of BET Bromodomains.

ERCC3 GTF2H4 YEATS4 NELFB CHD9 CHD8 NDUFS2

2.31e-0453380730554943
Pubmed

Sulfation of the human immunodeficiency virus envelope glycoprotein.

CHST5 CHST4

2.32e-04108021433500
Pubmed

Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.

HPS4 HPS3

2.32e-041080219010779
Pubmed

A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.

ERCC3 GTF2H4

2.32e-041080215220921
Pubmed

Architecture of the Human and Yeast General Transcription and DNA Repair Factor TFIIH.

ERCC3 GTF2H4

2.32e-041080226340423
Pubmed

Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.

HPS4 HPS3

2.32e-041080212445206
Pubmed

Regulation of lens fiber cell differentiation by transcription factor c-Maf.

NRL MAF

2.32e-041080210383433
Pubmed

Multiplexed kinase interactome profiling quantifies cellular network activity and plasticity.

PHKB ERCC3 GTF2H4 YEATS4 SIN3A CPLANE1 MAPK13 USP27X MAP2K3

2.43e-0491080936736316
Pubmed

Hermansky-Pudlak Syndrome

HPS4 HPS3

2.84e-041180220301464
Pubmed

The centrosomal deubiquitylase USP21 regulates Gli1 transcriptional activity and stability.

MPP1 CUL3

2.84e-041180227621083
Pubmed

The OSBP-related protein family in humans.

OSBPL11 OSBPL10

2.84e-041180211483621
Pubmed

Strong functional interactions of TFIIH with XPC and XPG in human DNA nucleotide excision repair, without a preassembled repairosome.

ERCC3 XPA

2.84e-041180211259578
Pubmed

Three functional classes of transcriptional activation domain.

ERCC3 GTF2H4

2.84e-04118028628270
Pubmed

Tat activates human immunodeficiency virus type 1 transcriptional elongation independent of TFIIH kinase.

ERCC3 GTF2H4

2.84e-041180210082552
Pubmed

Complex-type N-linked oligosaccharides of gp120 from human immunodeficiency virus type 1 contain sulfated N-acetylglucosamine.

CHST5 CHST4

2.84e-04118028419650
Cytoband11p15.4

OR51B5 OR51V1 OR51J1 OR52B6

4.27e-0420080411p15.4
CytobandEnsembl 112 genes in cytogenetic band chr11p15

OR51B5 BTBD10 OR51V1 OR51B4 OR51J1 OR52B6

4.66e-04564806chr11p15
CytobandEnsembl 112 genes in cytogenetic band chr16q23

CHST5 VAT1L MAF

1.12e-03116803chr16q23
GeneFamilyOlfactory receptors, family 51

OR51B5 OR51V1 OR51B4 OR51J1

1.35e-0544604164
GeneFamilyWD repeat domain containing|Xeroderma pigmentosum complementation groups|Nucleotide excision repair

ERCC3 XPA

2.99e-0486021125
GeneFamilySodium voltage-gated channel alpha subunits

SCN1A SCN8A

3.84e-0496021203
GeneFamilyOxysterol binding proteins|Pleckstrin homology domain containing

OSBPL11 OSBPL10

7.00e-0412602670
GeneFamilyBasic leucine zipper proteins|BTB domain containing

IVNS1ABP LZTR1 BTBD10 ZBTB40

1.02e-03134604861
GeneFamilyGeneral transcription factors|Xeroderma pigmentosum complementation groups|DNA helicases|ERCC excision repair associated

ERCC3 GTF2H4

3.09e-0325602565
GeneFamilySulfotransferases, membrane bound

CHST5 CHST4

6.69e-0337602763
CoexpressionGSE27786_LIN_NEG_VS_NEUTROPHIL_UP

MCM9 DPY19L4 CHD9 MIGA1 SLC43A3 ANKH RUSF1

2.60e-06199807M4794
DiseaseMental Retardation, Psychosocial

RABL6 FRY SCN1A SCN8A ZBTB40 CHD8 SIN3A

7.37e-08139767C0025363
DiseaseProfound Mental Retardation

RABL6 FRY SCN1A SCN8A ZBTB40 CHD8 SIN3A

7.37e-08139767C0020796
DiseaseMental deficiency

RABL6 FRY SCN1A SCN8A ZBTB40 CHD8 SIN3A

7.37e-08139767C0917816
DiseaseIntellectual Disability

RABL6 FRY SCN1A SCN8A ZBTB40 CHD8 XPA SIN3A USP27X

2.25e-06447769C3714756
Diseasexeroderma pigmentosum (is_implicated_in)

ERCC3 XPA

9.75e-056762DOID:0050427 (is_implicated_in)
DiseaseHermansky-Pudlak syndrome (is_implicated_in)

HPS4 HPS3

1.36e-047762DOID:3753 (is_implicated_in)
DiseaseCHARGE syndrome (implicated_via_orthology)

CHD9 CHD8

1.36e-047762DOID:0050834 (implicated_via_orthology)
DiseaseXeroderma pigmentosum

ERCC3 XPA

2.33e-049762cv:C0043346
DiseaseHermanski-Pudlak Syndrome

HPS4 HPS3

2.91e-0410762C0079504
DiseaseHermansky-Pudlak syndrome

HPS4 HPS3

2.91e-0410762cv:C0079504
Diseasegeneralized epilepsy with febrile seizures plus 2 (implicated_via_orthology)

SCN1A SCN8A

2.91e-0410762DOID:0111294 (implicated_via_orthology)
DiseaseDravet syndrome (implicated_via_orthology)

SCN1A SCN8A

2.91e-0410762DOID:0080422 (implicated_via_orthology)
DiseaseBasal cell carcinoma

ERCC3 XPA

3.55e-0411762C0007117
Diseasegeneralized epilepsy with febrile seizures plus (implicated_via_orthology)

SCN1A SCN8A

4.25e-0412762DOID:0060170 (implicated_via_orthology)
Diseaseplatelet storage pool deficiency (implicated_via_orthology)

HPS4 HPS3

6.73e-0415762DOID:2223 (implicated_via_orthology)
DiseaseAutism Spectrum Disorders

SCN1A CHD8 SIN3A

1.39e-0385763C1510586
Diseasehypertrophic cardiomyopathy (is_implicated_in)

LZTR1 NDUFS2

1.46e-0322762DOID:11984 (is_implicated_in)
DiseaseNeurodevelopmental Disorders

CUL3 SCN1A SCN8A

1.80e-0393763C1535926
DiseaseDwarfism

SIN3A TG

1.89e-0325762C0013336
DiseaseMicronuclei, Chromosome-Defective

XPA POLK

2.04e-0326762C1449861
DiseaseMicronuclei, Genotoxicant-Induced

XPA POLK

2.04e-0326762C1449862

Protein segments in the cluster

PeptideGeneStartEntry
FPLEMAVFMREHLNY

ABCG4

446

Q9H172
EFYLEEMILPLMVAS

BTBD10

286

Q9BSF8
QDPDFSFLAARMNYM

CHD8

1951

Q9HCK8
MFEDDTFVYMIEPLE

ADAM23

221

O75077
YLAMPFATPMEAELA

CTAG1A

91

P78358
FMEKERMEYFLSTLP

ANKRD18B

936

A2A2Z9
YDYMELASMPFVTLD

CFAP44

111

Q96MT7
IAAQMLSFVMDDPDF

RABL6

561

Q3YEC7
LTQDMIDDYEPALMF

ZFYVE28

211

Q9HCC9
APFNYAMDILNMVFT

CACNA1F

1216

O60840
YFEAMFRSFMPEDGQ

LZTR1

691

Q8N653
PLAMEYVNDFDLMKF

MAF

16

O75444
MIPNGYLMFEDENFI

IVNS1ABP

1

Q9Y6Y0
MHSEFAQLPALYEMT

HPS4

636

Q9NQG7
PMYYFLAMLADTDLG

OR51B4

56

Q9Y5P0
PMYFFLAMLAATDLG

OR51B5

56

Q9H339
SPLLQAMMANAYLFF

OR51J1

271

Q9H342
QPMFYFLSMLALTDL

OR51V1

66

Q9H2C8
HEPMYIFLSMLASAD

OR52B6

76

Q8NGF0
FTEDDEKVMQMYLPF

PDE11A

351

Q9HCR9
SPLAMEYVNDFDLMK

NRL

6

P54845
EEDLRNLMFGDYMNP

DNAH12

2176

Q6ZR08
TRFLPMLMSFLVDDY

NELFB

371

Q8WX92
YDFYLVMPFMQTDLQ

MAPK13

101

O15264
MRMNYETVLSLEFPF

POGK

76

Q9P215
QALPYFDRLDYVSMM

NDUFS2

131

O75306
MTDPMMDFFDDANLF

CHD9

1

Q3L8U1
PTYMAEEMQEASLFF

GKN1

146

Q9NS71
ATIPIFFDMMLCEYQ

DOCK2

1106

Q92608
EISYFQFPGELLMRM

SLC1A7

46

O00341
MLPFSRFFNMEELIQ

CPLANE1

1331

Q9H799
EAPFLEMSAEFFQME

CUL3

206

Q13618
FPRLMTELMELQEFY

DPY19L4

546

Q7Z388
TDFHPLMDQFMNDYV

DNAAF9

1136

Q5TEA3
AFLYLAAFPFMDAMA

ANKH

131

Q9HCJ1
SAPLFMLDLYNAMTN

BMP5

76

P22003
LDYKSNFEPFFMMIA

GNS

216

P15586
AYRMLMDFEQLQPGD

MECR

171

Q9BV79
LPALQMFMRAQFDYD

MPP1

156

Q00013
KSDIPMDLFDFYEQM

ERCC3

241

P19447
MYPVEDFEASLQFMQ

FRY

281

Q5TBA9
TEMDPFYAENFMANT

CCDC168

2521

Q8NDH2
FLYISLADMFPEMNE

SLC39A14

436

Q15043
FARNAFTVLAMMDYP

DPP7

261

Q9UHL4
IECEFPIFFLYMMID

PHKB

361

Q93100
MYADFMSHPDLFIAI

OSBPL11

401

Q9BXB4
AERMSYLELMEHPFF

MAP2K3

311

P46734
FGDMDIFLPATMAYD

OR1P1

121

Q8NH06
VMTEEEFALKVFPMY

MROH2A

246

A6NES4
NMEIGEYFNMFPSEV

MCM9

51

Q9NXL9
PENLYLMGMELFEEA

MIGA1

206

Q8NAN2
LNDVAMFLEIMAPVY

RUSF1

171

Q96GQ5
EEFMDPATFINMYNR

TEX47

221

Q8TBZ9
PFSKAFRDQMYIIEM

HPS3

116

Q969F9
LNPMLYVFMGQDFRE

FPR1

296

P21462
DLEMLAPYISMDDDF

HIF3A

486

Q9Y2N7
MDVDVEDYYPAFLDM

SIN3A

951

Q96ST3
YAMRAFADALEVIPM

CCT5

446

P48643
LQNDPFYVNVMFMLA

SLC43A3

451

Q8NBI5
NFDFDQMYPVALVML

SYAP1

161

Q96A49
LSYRFMDMFPDASLI

SUPV3L1

641

Q8IYB8
RSLLEMYADFMAHPD

OSBPL10

426

Q9BXB5
FTAEMFLKIIAMDPY

SCN1A

811

P35498
VFLCDMSVFDAYMEP

CHST4

101

Q8NCG5
IFLCDMDVFDAYMPQ

CHST5

121

Q9GZS9
EEMFYQLSNMLPQIF

C12orf4

526

Q9NQ89
FSEMLYRFPNMVVAQ

GTF2H4

331

Q92759
YISFPLELDMTPFMA

USP27X

326

A6NNY8
FMMYLLSPEGAALDN

PLCD3

316

Q8N3E9
YVIDNYFPEMERMDL

PLEKHG4B

826

Q96PX9
VKEILADYDPNFMAM

POLK

181

Q9UBT6
FTAEMFLKLIAMDPY

SCN8A

796

Q9UQD0
FPMNFVTAYVMLFEV

VAT1L

161

Q9HCJ6
EFMDSYLMNHFDLPT

XPA

111

P23025
PMEFEEYLLRMFQQT

XPO6

326

Q96QU8
SEFYDEMIFQDPTAM

YEATS4

136

O95619
SFAPLVLDMLNFLMD

UBR4

1806

Q5T4S7
DMMIFDLVHSYNRFP

TG

201

P01266
LMRAYMQEPLFVEFA

ZNHIT3

126

Q15649
YVQLPFMEDLRQYMF

XRCC5

421

P13010
VSPEEFALLLEMMYT

ZBTB40

66

Q9NUA8