Hs01929391_cn

• Gene Symbol: ERCC6
• Assay Reference Genome Location: Chr.10:49470371 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	3765	NP_000115.1
	AB209504.1	12	7975	BAD92741.1
	AK130100.1
	AK303022.1	12	2014
	BC127104.1	18	3649
	CR749388.1	8	1421	CAH18238.1
	L04791.1	18	3668	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	OGDHL ERCC6 LRRC18 PARG FAM25C CHAT FAM170B WDFY4 C10orf128 DRGX MIR4294 MAPK8 FAM170B-AS1 VSTM4 FRMPD2 AGAP12P C10orf71 ARHGAP22 C10orf53 C10orf71-AS1 PGBD3 SLC18A3

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