Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	ERCC4
Previous Symbol	XPF
Symbol Alias	RAD1, FANCQ
Approved Name	excision repair cross-complementation group 4
Previous Name	excision repair cross-complementing rodent repair deficiency, complementation group 4
Name Alias	xeroderma pigmentosum, complementation group F
Location	16p13.3
Position	chr16:13920157-13952345, 1
External Links	HGNC: 3436 Entrez Gene: 2072 Ensembl: ENSG00000175595 UCSC: uc002dce.2
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Georgi, B., 2014	SNP: rs1800067	Putative damaging exonic variant was found within this gene.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 32)

GO terms by PBA (count: 2)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[12571280]	283
GO:0009411	response to UV	biological process	IMP[16678501]	3

GO terms by database search (count: 30)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0000723	telomere maintenance	biological process	IMP[14690602]	4
GO:0005669	transcription factor TFIID complex	cellular component	IEA	2
GO:0006296	nucleotide-excision repair, DNA incision, 5'-to lesion	biological process	IMP[11790111]	1
GO:0006283	transcription-coupled nucleotide-excision repair	biological process	TAS	3
GO:1901255	nucleotide-excision repair involved in interstrand cross-link repair	biological process	IBA	1
GO:0010834	telomere maintenance via telomere shortening	biological process	IMP[17055345]	1
GO:0000718	nucleotide-excision repair, DNA damage removal	biological process	TAS	2
GO:0000784	nuclear chromosome, telomeric region	cellular component	IDA[14690602]	1
GO:0005515	protein binding	molecular function	IPI[12571280]	563
GO:0043566	structure-specific DNA binding	molecular function	IDA[14734547]	1
GO:0003697	single-stranded DNA binding	molecular function	IDA[10413517]	7
GO:0006281	DNA repair	biological process	IMP[19596235]; TAS	16
GO:0005654	nucleoplasm	cellular component	TAS	163
GO:0000781	chromosome, telomeric region	cellular component	IDA[14690602]	1
GO:0001094	TFIID-class transcription factor binding	molecular function	IEA	1
GO:0008022	protein C-terminus binding	molecular function	IPI[9722633]	21
GO:0006295	nucleotide-excision repair, DNA incision, 3'-to lesion	biological process	IMP[11790111]	1
GO:0004520	endodeoxyribonuclease activity	molecular function	IDA[10413517]; IDA[8797827]	1
GO:0009650	UV protection	biological process	IEA	1
GO:0000724	double-strand break repair via homologous recombination	biological process	IMP[14728600]	9
GO:0000014	single-stranded DNA endodeoxyribonuclease activity	molecular function	IBA	1
GO:0032205	negative regulation of telomere maintenance	biological process	IMP[17055345]	1
GO:0000109	nucleotide-excision repair complex	cellular component	IDA[10644440]	1
GO:0000110	nucleotide-excision repair factor 1 complex	cellular component	IDA[10413517]	1
GO:0047485	protein N-terminus binding	molecular function	IPI[14734547]	12
GO:0003684	damaged DNA binding	molecular function	IMP[11790111]	5
GO:0000712	resolution of meiotic recombination intermediates	biological process	IBA	1
GO:0033683	nucleotide-excision repair, DNA incision	biological process	IDA[10413517]	1
GO:0000737	DNA catabolic process, endonucleolytic	biological process	IBA; IDA[10413517]	2
GO:0006289	nucleotide-excision repair	biological process	IDA[10644440]; IMP[8797827]; TAS	4

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa03420	Nucleotide excision repair	3

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ERCC4	SPTAN1	NO	in vitro	11401546
ERCC4	RAD52	NO	in vitro;in vivo	14734547
ERCC4	ERCC1	NO	in vitro;in vivo	9722633 , 8197175
ERCC4	GTF2H1	NO	in vitro	11259578
ERCC4	BTBD12	NO	in vivo;yeast 2-hybrid	19596236

Related other genetic factors

Gene related SNPs (count: 2)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1800067	chr16:13935176 - 13935176(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/0/1)

LD-proxies (count: 1)

rs_ID	Literature-origin SNPs with LD	Location	Functional Annotation
rs3136055		chr16:13921720 - 13921720(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 16	chr16:0-90338345	5 (1/3/1)
16p12.3-p13.1	chr16:10400000-21200000	1 (1/0/0)
16p13	chr16:10400000-16700000	4 (1/0/3)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr16:13920157..13952345 View in gBrowse