Hs01675540_cn

• Gene Symbol: ERCC2
• Assay Reference Genome Location: Chr.19:45363856 on build GRCh38
• Cytoband: 19q13.32

Target Gene Details

• Entrez Gene ID: 2068
• Gene Name: ERCC excision repair 2, TFIIH core complex helicase subunit
• Gene Aliases: COFS2, EM9, TFIIH, TTD, TTD1, XPD
• Location: Chr.19:45349837-45370647 on Build GRCh38
• Assay Gene Location: Within Exon 10

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
ERCC2	NM_000400.3	11	1052	NP_000391.1
	NM_001130867.1	10	1355	NP_001124339.1
	XM_011526611.2	10	1034	XP_011524913.1
	XM_017026467.1	10	948	XP_016881956.1
	AK303358.1	8	664
	BC108255.1	11	1015	AAI08256.1
	BC110522.1	9	799	AAI10523.1
	BC110523.1	11	1033	AAI10524.1
	BT006883.1	10	933	AAP35529.1
	X52221.1	10	1686	CAA36463.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv29n64	Chr.19:45334011 - 45373709 on Build GRCh38	Gain	KLC3 ERCC2
nsv1063547	Chr.19:45322368 - 45400204 on Build GRCh38	Gain	KLC3 PPP1R13L ERCC2 CKM
nsv833844	Chr.19:45181051 - 45384148 on Build GRCh38	Loss	KLC3 MARK4 BLOC1S3 PPP1R13L EXOC3L2 ERCC2 CKM
dgv3606n100	Chr.19:45347435 - 45400204 on Build GRCh38	Gain	KLC3 PPP1R13L ERCC2
nsv428365	Chr.19:45358027 - 45469089 on Build GRCh38	Gain+Loss	FOSB MIR6088 CD3EAP PPP1R13L ERCC2 ERCC1
nsv1160648	Chr.19:45347447 - 45368176 on Build GRCh38	Duplication	KLC3 ERCC2
nsv833845	Chr.19:45308814 - 45457371 on Build GRCh38	Loss	MIR6088 KLC3 CD3EAP PPP1R13L ERCC2 ERCC1 CKM
nsv515681	Chr.19:45352886 - 45364001 on Build GRCh38	Loss	ERCC2
esv3644502	Chr.19:45323147 - 45403933 on Build GRCh38	Gain	KLC3 PPP1R13L ERCC2
dgv1054e212	Chr.19:45347119 - 45407663 on Build GRCh38	Gain	KLC3 CD3EAP PPP1R13L ERCC2 ERCC1
nsv470146	Chr.19:45323108 - 45373709 on Build GRCh38	Loss	KLC3 ERCC2
esv3644504	Chr.19:45342675 - 45373732 on Build GRCh38	Gain	KLC3 ERCC2
nsv579869	Chr.19:45356868 - 45365051 on Build GRCh38	Loss	ERCC2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

nucleotide-excision repair, DNA duplex unwinding
response to hypoxia
in utero embryonic development
transcription-coupled nucleotide-excision repair
nucleotide-excision repair
nucleotide-excision repair, preincision complex stabilization
nucleotide-excision repair, preincision complex assembly
nucleotide-excision repair, DNA incision, 3'-to lesion
nucleotide-excision repair, DNA incision, 5'-to lesion
transcription initiation from RNA polymerase I promoter
transcription elongation from RNA polymerase I promoter
termination of RNA polymerase I transcription
transcription from RNA polymerase II promoter
transcription initiation from RNA polymerase II promoter
transcription elongation from RNA polymerase II promoter
7-methylguanosine mRNA capping
protein phosphorylation
apoptotic process
response to oxidative stress
chromosome segregation
aging
cell proliferation
UV protection
post-embryonic development
viral process
spinal cord development
extracellular matrix organization
bone mineralization
central nervous system myelin formation
nucleotide-excision repair, DNA incision
multicellular organism growth
hair cell differentiation
embryonic cleavage
erythrocyte maturation
positive regulation of DNA binding
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
hair follicle maturation
hematopoietic stem cell differentiation
global genome nucleotide-excision repair
regulation of mitotic cell cycle phase transition

Function(s)

DNA binding
ATP-dependent DNA helicase activity
protein kinase activity
protein binding
ATP binding
protein C-terminus binding
DNA-dependent ATPase activity
RNA polymerase II carboxy-terminal domain kinase activity
5'-3' DNA helicase activity
metal ion binding
protein N-terminus binding
4 iron, 4 sulfur cluster binding