Gene Page: ERCC4

Summary ?
GeneID2072
SymbolERCC4
SynonymsERCC11|FANCQ|RAD1|XFEPS|XPF
Descriptionexcision repair cross-complementation group 4
ReferenceMIM:133520|HGNC:HGNC:3436|Ensembl:ENSG00000175595|HPRD:00594|Vega:OTTHUMG00000048194
Gene typeprotein-coding
Map location16p13.12
Pascal p-value0.046
eGeneCerebellar Hemisphere
Myers' cis & trans
Meta

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs1578978chr8118196802ERCC420720.17trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000287magnesium ion bindingIEA-
GO:0003684damaged DNA bindingIMP11790111 
GO:0003697single-stranded DNA bindingIDA10413517 
GO:0004520endodeoxyribonuclease activityIDA10413517 |14734547 
GO:0004520endodeoxyribonuclease activityIDA8797827 
GO:0016787hydrolase activityIEA-
GO:0008022protein C-terminus bindingIPI9722633 
GO:0047485protein N-terminus bindingIPI14734547 
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000718nucleotide-excision repair, DNA damage removalEXP10583946 
GO:0000724double-strand break repair via homologous recombinationIMP14728600 
GO:0006295nucleotide-excision repair, DNA incision, 3'-to lesionIMP11790111 
GO:0006296nucleotide-excision repair, DNA incision, 5'-to lesionIMP11790111 |14728600 
GO:0009650UV protectionIEA-
GO:0032205negative regulation of telomere maintenanceIMP17055345 
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0000109nucleotide-excision repair complexIDA10413517 
GO:0000784nuclear chromosome, telomeric regionIDA14690602 
GO:0005634nucleusIDA12571280 
GO:0005654nucleoplasmEXP10214908 |11313499 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG NUCLEOTIDE EXCISION REPAIR 4425All SZGR 2.0 genes in this pathway
REACTOME TRANSCRIPTION COUPLED NER TC NER 4524All SZGR 2.0 genes in this pathway
REACTOME NUCLEOTIDE EXCISION REPAIR 5127All SZGR 2.0 genes in this pathway
REACTOME FORMATION OF TRANSCRIPTION COUPLED NER TC NER REPAIR COMPLEX 3013All SZGR 2.0 genes in this pathway
REACTOME DNA REPAIR 11259All SZGR 2.0 genes in this pathway
REACTOME GLOBAL GENOMIC NER GG NER 3520All SZGR 2.0 genes in this pathway
REACTOME FORMATION OF INCISION COMPLEX IN GG NER 2311All SZGR 2.0 genes in this pathway
WANG LMO4 TARGETS DN 352225All SZGR 2.0 genes in this pathway
KINSEY TARGETS OF EWSR1 FLII FUSION UP 1278748All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
GRAESSMANN RESPONSE TO MC AND DOXORUBICIN DN 770415All SZGR 2.0 genes in this pathway
WAKASUGI HAVE ZNF143 BINDING SITES 5833All SZGR 2.0 genes in this pathway
GEORGES TARGETS OF MIR192 AND MIR215 893528All SZGR 2.0 genes in this pathway
KAUFFMANN DNA REPAIR GENES 230137All SZGR 2.0 genes in this pathway
TARTE PLASMA CELL VS PLASMABLAST UP 398262All SZGR 2.0 genes in this pathway
XU GH1 EXOGENOUS TARGETS DN 12069All SZGR 2.0 genes in this pathway
SATO SILENCED BY METHYLATION IN PANCREATIC CANCER 1 419273All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 473224All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS 212121All SZGR 2.0 genes in this pathway
SANSOM APC MYC TARGETS 217138All SZGR 2.0 genes in this pathway
SANSOM APC TARGETS REQUIRE MYC 210123All SZGR 2.0 genes in this pathway
MCCABE BOUND BY HOXC6 469239All SZGR 2.0 genes in this pathway
GRESHOCK CANCER COPY NUMBER UP 323240All SZGR 2.0 genes in this pathway
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN 1080713All SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839928All SZGR 2.0 genes in this pathway