Hs01007802_cn

• Gene Symbol: ERCC6
• Assay Reference Genome Location: Chr.10:49470233 on build GRCh38
• Cytoband: 10q11.23

Target Gene Details

• Entrez Gene ID: 2074
• Gene Name: ERCC excision repair 6, chromatin remodeling factor
• Gene Aliases: ARMD5, CKN2, COFS, COFS1, CSB, POF11, RAD26, UVSS1
• Location: Chr.10:49454480-49539538 on Build GRCh38
• Assay Gene Location: Within Exon 20

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERCC6	NM_000124.3	18	3903	NP_000115.1
	AB209504.1	12	8113	BAD92741.1
	AK130100.1
	AK303022.1	12	2152
	BC127104.1	18	3787
	CR749388.1	8	1559	CAH18238.1
	L04791.1	18	3806	AAA52397.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv1051636	Chr.10:49467246 - 49524234 on Build GRCh38	Loss	ERCC6 PGBD3
nsv831867	Chr.10:49399811 - 49580705 on Build GRCh38	Gain	ERCC6 PGBD3
nsv1042677	Chr.10:47993784 - 49928329 on Build GRCh38	Loss	FAM25C PARG C10orf128 C10orf53 AGAP12P FAM170B C10orf71-AS1 LRRC18 OGDHL WDFY4 ERCC6 VSTM4 FRMPD2 MAPK8 MIR4294 PGBD3 FAM170B-AS1 ARHGAP22 SLC18A3 DRGX C10orf71 CHAT

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

response to superoxide
transcription-coupled nucleotide-excision repair
base-excision repair
pyrimidine dimer repair
transcription elongation from RNA polymerase I promoter
transcription from RNA polymerase II promoter
response to oxidative stress
activation of JNKK activity
activation of JUN kinase activity
intrinsic apoptotic signaling pathway in response to DNA damage
response to UV
response to toxic substance
response to X-ray
response to UV-B
response to gamma radiation
regulation of DNA-templated transcription, elongation
positive regulation of DNA-templated transcription, elongation
multicellular organism growth
photoreceptor cell maintenance
positive regulation of gene expression, epigenetic
positive regulation of protein tyrosine kinase activity

Function(s)

DNA binding
DNA helicase activity
chromatin binding
protein binding
ATP binding
protein C-terminus binding
DNA-dependent ATPase activity
protein tyrosine kinase activator activity
protein complex binding
protein N-terminus binding