ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	ERCC8
Previous Symbol	CKN1
Symbol Alias	CSA
Approved Name	excision repair cross-complementing rodent repair deficiency, complementation group 8
Previous Name	Cockayne syndrome 1 (classical)
Location	5q12.1
Position	chr5:60169658-60240905, -
External Links	HGNC: 3439 Entrez Gene: 1161 Ensembl: ENSG00000049167 UCSC: uc003jsm.3
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Lesch[2011]_4	chr5:60069539-60353244 (NCBI Build 35 (hg17))	283705	5q12.1	Deletion	Maternal (affected)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 22)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 22)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0000109	nucleotide-excision repair complex	Cellular Component	IDA[12732143]	1
GO:0006283	transcription-coupled nucleotide-excision repair	Biological Process	IDA[12732143]; IMP[16916636]	6
GO:0006281	DNA repair	Biological Process		62
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005634	nucleus	Cellular Component	IDA[11782547]	770
GO:0005515	protein binding	Molecular Function	IPI[7664335]	910
GO:0004842	ubiquitin-protein ligase activity	Molecular Function	IDA[12732143]	52
GO:0003678	DNA helicase activity	Molecular Function	IDA[8999876]	2
GO:0000209	protein polyubiquitination	Biological Process	IDA[12732143]	23
GO:0016363	nuclear matrix	Cellular Component	IDA[11782547]	16
GO:0031464	Cul4A-RING ubiquitin ligase complex	Cellular Component	IDA[12732143]	3
GO:0009411	response to UV	Biological Process	IDA[12732143]; IMP[7664335]	5
GO:0010165	response to X-ray	Biological Process		4
GO:0006979	response to oxidative stress	Biological Process	IDA[11782547]; IMP[17297471]	17
GO:0008094	DNA-dependent ATPase activity	Molecular Function	IDA[8999876]	4
GO:0006289	nucleotide-excision repair	Biological Process	IMP[17297471]	12
GO:0006974	response to DNA damage stimulus	Biological Process	IDA[11782547]	37
GO:0051865	protein autoubiquitination	Biological Process	IDA[12732143]	6
GO:0043234	protein complex	Cellular Component	IDA[12732143]	45
GO:0045739	positive regulation of DNA repair	Biological Process	IMP[7664335]	4
GO:0032403	protein complex binding	Molecular Function	IDA[16916636]	27
GO:0043161	proteasomal ubiquitin-dependent protein catabolic process	Biological Process	IDA[16751180]	16

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03420	Nucleotide excision repair	9	Nucleotide excision repair (NER) is a mechanism to recognize...... Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar. More...
hsa04120	Ubiquitin mediated proteolysis	29	Protein ubiquitination plays an important role in eukaryotic...... Protein ubiquitination plays an important role in eukaryotic cellular processes. It mainly functions as a signal for 26S proteasome dependent protein degradation. The addition of ubiquitin to proteins being degraded is performed by a reaction cascade consisting of three enzymes, named E1 (ubiquitin activating enzyme), E2 (ubiquitin conjugating enzyme), and E3 (ubiquitin ligase). Each E3 has specificity to its substrate, or proteins to be targeted by ubiquitination. Many E3s are discovered in eukaryotes and they are classified into four types: HECT type, U-box type, single RING-finger type, and multi-subunit RING-finger type. Multi-subunit RING-finger E3s are exemplified by cullin-Rbx E3s and APC/C. They consist of a RING-finger-containing subunit (RBX1 or RBX2) that functions to bind E2s, a scaffold-like cullin molecule, adaptor proteins, and a target recognizing subunit that binds substrates. More...

Genes shared at least 5 GO terms with ERCC8 (count: 33)

Gene Symbol	Pathway Count	Pathway List
MEN1	8	DNA repair; nucleoplasm; nucleus; protein binding; nuclear matrix; response to UV; response to DNA damage stimulus; protein complex;
DDB1	7	DNA repair; nucleoplasm; nucleus; protein binding; Cul4A-RING ubiquitin ligase complex; nucleotide-excision repair; proteasomal ubiquitin-dependent protein catabolic process;
XPA	7	DNA repair; nucleoplasm; nucleus; protein binding; response to UV; response to oxidative stress; nucleotide-excision repair;
POLD3	6	transcription-coupled nucleotide-excision repair; DNA repair; nucleoplasm; nucleus; protein binding; nucleotide-excision repair;
POLD4	6	transcription-coupled nucleotide-excision repair; DNA repair; nucleoplasm; nucleus; protein binding; nucleotide-excision repair;
H2AFX	6	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; positive regulation of DNA repair;
RAD23B	6	DNA repair; nucleoplasm; nucleus; protein binding; nucleotide-excision repair; proteasomal ubiquitin-dependent protein catabolic process;
TRIP12	6	DNA repair; nucleoplasm; nucleus; protein binding; ubiquitin-protein ligase activity; response to DNA damage stimulus;
USP28	6	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; protein complex;
CCND1	6	nucleoplasm; nucleus; protein binding; response to X-ray; response to DNA damage stimulus; protein complex binding;
GTF2H3	5	transcription-coupled nucleotide-excision repair; DNA repair; nucleoplasm; DNA-dependent ATPase activity; nucleotide-excision repair;
POLE	5	transcription-coupled nucleotide-excision repair; DNA repair; nucleoplasm; nucleus; nucleotide-excision repair;
POLR2G	5	transcription-coupled nucleotide-excision repair; DNA repair; nucleoplasm; nucleus; nucleotide-excision repair;
ATM	5	DNA repair; nucleoplasm; protein binding; response to DNA damage stimulus; protein complex binding;
BARD1	5	DNA repair; nucleus; protein binding; ubiquitin-protein ligase activity; response to DNA damage stimulus;
CHEK1	5	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
FANCC	5	DNA repair; nucleoplasm; nucleus; protein binding; nucleotide-excision repair;
HERC2	5	DNA repair; nucleus; protein binding; ubiquitin-protein ligase activity; response to DNA damage stimulus;
IGHMBP2	5	DNA repair; nucleus; protein binding; DNA helicase activity; DNA-dependent ATPase activity;
MMS19	5	DNA repair; nucleus; protein binding; nucleotide-excision repair; response to DNA damage stimulus;
MRE11A	5	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
NCOA6	5	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
PRPF19	5	DNA repair; nucleus; protein binding; ubiquitin-protein ligase activity; protein polyubiquitination;
RAD1	5	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
RAD9A	5	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
SMC3	5	DNA repair; nucleoplasm; nucleus; protein binding; nuclear matrix;
TP53BP1	5	DNA repair; nucleoplasm; nucleus; protein binding; response to DNA damage stimulus;
MAPK1	5	nucleoplasm; nucleus; protein binding; response to DNA damage stimulus; protein complex;
STRN3	5	nucleoplasm; nucleus; protein binding; protein complex; protein complex binding;
BIRC2	5	nucleus; protein binding; ubiquitin-protein ligase activity; protein polyubiquitination; proteasomal ubiquitin-dependent protein catabolic process;
PARK2	5	nucleus; protein binding; ubiquitin-protein ligase activity; protein polyubiquitination; protein autoubiquitination;
PMAIP1	5	nucleus; protein binding; response to UV; response to X-ray; response to DNA damage stimulus;
TRIM32	5	nucleus; protein binding; ubiquitin-protein ligase activity; protein polyubiquitination; response to UV;

Genes shared at least 2 KEGG pathways with ERCC8 (count: 1)

Gene Symbol	Pathway Count	Pathway List
DDB1	2	Nucleotide excision repair; Ubiquitin mediated proteolysis;

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Region: chr5:60169658..60240905 View in gBrowse