Hs05590297_cn

• Gene Symbol: XRCC6
• Assay Reference Genome Location: Chr.22:41622137 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 2547
• Gene Name: X-ray repair cross complementing 6
• Gene Aliases: CTC75, CTCBF, G22P1, KU70, ML8, TLAA
• Location: Chr.22:41621163-41664048 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
XRCC6	NM_001288976.1			NP_001275905.1
	NM_001288977.1			NP_001275906.1
	NM_001288978.1			NP_001275907.1
	NM_001469.4			NP_001460.1
	AK055786.1
	AK293439.1
	AK304580.1
	AK315618.1
	BC008343.1			AAH08343.1
	BC010034.2			AAH10034.1
	BC012154.2			AAH12154.1
	BC018259.2			AAH18259.1
	BC072449.1			AAH72449.1
	BU902323.1
	CD683757.1
	CR456492.1			CAG30378.1
	CR542219.1			CAG47015.1
	DA647513.1
	DA718140.1
	DB057280.1
	DC383335.1
	DC386009.1
	J04607.1			AAA61177.1
	J04611.1			AAA51733.1
	M32865.1			AAA36155.1
	S38729.1			AAB22381.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1055166	Chr.22:41536399 - 41622240 on Build GRCh38	Gain	PMM1 XRCC6 POLR3H LOC105373044 DESI1 CSDC2
nsv834209	Chr.22:41563516 - 41746056 on Build GRCh38	Loss	PMM1 XRCC6 SNU13 DESI1 C22orf46 CSDC2 MEI1
nsv524585	Chr.22:40993505 - 41794305 on Build GRCh38	Loss	EP300-AS1 L3MBTL2 PMM1 XRCC6 MIR1281 ACO2 LOC105373044 MIR6889 LOC100996598 CSDC2 TOB2 PHF5A RANGAP1 ZC3H7B EP300 CHADL SNU13 POLR3H DESI1 C22orf46 TEF SNORD140 MEI1

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

telomere maintenance
DNA ligation
double-strand break repair via nonhomologous end joining
DNA recombination
transcription, DNA-templated
positive regulation of type I interferon production
DNA duplex unwinding
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
regulation of smooth muscle cell proliferation
protein heterotetramerization
cellular response to gamma radiation
cellular response to X-ray
establishment of integrated proviral latency
double-strand break repair via classical nonhomologous end joining

Function(s)

DNA binding
damaged DNA binding
double-stranded DNA binding
double-stranded telomeric DNA binding
ATP-dependent DNA helicase activity
protein binding
ATP binding
protein C-terminus binding
transcription regulatory region DNA binding
poly(A) RNA binding
macromolecular complex binding
5'-deoxyribose-5-phosphate lyase activity