Hs00404261_cn

• Gene Symbol: C10orf2
• Assay Reference Genome Location: Chr.10:100989423 on build GRCh38
• Cytoband: 10q24.31

Target Gene Details

• Entrez Gene ID: 56652
• Gene Name: chromosome 10 open reading frame 2
• Gene Aliases: ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINL
• Location: Chr.10:100987527-100994403 on Build GRCh38
• Assay Gene Location: Overlaps Exon 1 - Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
C10orf2	NM_001163812.1			NP_001157284.1
	NM_001163813.1			NP_001157285.1
	NM_001163814.1			NP_001157286.1
	NM_021830.4			NP_068602.2
	XM_011539975.2			XP_011538277.1
	XM_017016437.1			XP_016871926.1
	AF292004.1			AAK69558.1
	AF292005.1			AAK69559.1
	AK025485.1			BAB15148.1
	AK297068.1
	BC013349.2			AAH13349.1
	BC033762.1			AAH33762.1
	BQ643363.1
	BX640829.1			CAE45905.1
	CB112401.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv831965	Chr.10:100916724 - 101082796 on Build GRCh38	Loss	C10orf2 SFXN3 SEMA4G MIR608 PDZD7 SLF2 MRPL43 LZTS2 KAZALD1
nsv517698	Chr.10:100965896 - 101017113 on Build GRCh38	Loss	C10orf2 SEMA4G MIR608 PDZD7 MRPL43 LZTS2
nsv467443	Chr.10:100929460 - 101007360 on Build GRCh38	Loss	C10orf2 SEMA4G MIR608 SLF2 MRPL43 LZTS2

More Information

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

Panther Classification:

Molecular Function -

DNA helicase

Gene Ontology Categories:

Process(es)

mitochondrial DNA replication
DNA unwinding involved in DNA replication
transcription from mitochondrial promoter
mitochondrion organization
protein hexamerization
protein homooligomerization
cellular response to glucose stimulus

Function(s)

protease binding
single-stranded DNA binding
ATP binding
5'-3' DNA helicase activity