Hs01447053_cn

• Gene Symbol: CHMP6
• Assay Reference Genome Location: Chr.17:80999337 on build GRCh38
• Cytoband: 17q25.3

Target Gene Details

• Entrez Gene ID: 79643
• Gene Name: charged multivesicular body protein 6
• Gene Aliases: VPS20
• Location: Chr.17:80991841-81000133 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHMP6	NM_024591.4	8	868	NP_078867.2
	AK021811.1	8	806	BAB13901.1
	AK223187.1	8	830	BAD96907.1
	AK292105.1	8	834
	BC010108.2	8	814	AAH10108.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv952386	Chr.17:80872501 - 81005700 on Build GRCh38	Deletion	CHMP6 LOC100129503 LOC107985022 LOC105371921 RPTOR LOC400627
nsv828128	Chr.17:80659041 - 81736487 on Build GRCh38	Loss	MIR6786 LOC100130370 LOC107985022 LOC101928855 BAHCC1 ACTG1 HGS MIR3065 MIR338 ARL16 TEPSIN TSPAN10 MIR3186 MIR1250 MIR4740 FAAP100 LOC400627 BAIAP2 MRPL12 MIR657 NPLOC4 SLC25A10 SLC38A10 CEP131 LOC100129503 TMEM105 LOC105371925 AATK-AS1 LOC105371921 RPTOR LOC107985021 FSCN2 OXLD1 C17orf89 LINC00482 CHMP6 AATK BAIAP2-AS1 CCDC137 PDE6G
esv3641388	Chr.17:80978629 - 81012536 on Build GRCh38	Gain	CHMP6 LOC100129503

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

cell separation after cytokinesis
autophagy
nucleus organization
mitotic metaphase plate congression
protein transport
endosomal transport
viral life cycle
multivesicular body assembly
viral budding via host ESCRT complex
regulation of exosomal secretion
ESCRT III complex assembly

Function(s)

protein binding
protein N-terminus binding