Hs05170710_cn

• Gene Symbol: ERCC6
• Assay Reference Genome Location: Chr.10:49489186 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 Intron 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERCC6	NM_000124.3			NP_000115.1
	AB209504.1			BAD92741.1
	AK130100.1
	AK303022.1
	BC127104.1
	L04791.1			AAA52397.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv6632	Chr.10:49486011 - 49518477 on Build GRCh38	Insertion	PGBD3 ERCC6
nsv1051636	Chr.10:49467246 - 49524234 on Build GRCh38	Loss	PGBD3 ERCC6
nsv831867	Chr.10:49399811 - 49580705 on Build GRCh38	Gain	PGBD3 ERCC6
nsv1042677	Chr.10:47993784 - 49928329 on Build GRCh38	Loss	MIR4294 C10orf128 LRRC18 C10orf71-AS1 ARHGAP22 OGDHL ERCC6 FAM170B SLC18A3 C10orf71 CHAT FRMPD2 DRGX PGBD3 MAPK8 FAM170B-AS1 VSTM4 WDFY4 FAM25C C10orf53 AGAP12P PARG

More Information

• Set Membership: Intragenic, Intronic, Non-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