Hs00816750_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89644732 on build GRCh38
• Cytoband: 16q24.3

Target Gene Details

• Entrez Gene ID: 5119
• Gene Name: charged multivesicular body protein 1A
• Gene Aliases: CHMP1, PCH8, PCOLN3, PRSM1, VPS46-1, VPS46A
• Location: Chr.16:89644431-89657785 on Build GRCh38
• Assay Gene Location: Within Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHMP1A	NM_001083314.3	6	2102	NP_001076783.1
	NM_002768.4	7	2122	NP_002759.2
	NR_046418.2	7	2290
	AI356110.1	1	307
	AI362697.1	1	307
	AK302055.1
	BC010000.2	2	1710	AAH10000.2
	D38554.1	7	1990	BAA07557.1
	U58048.1	7	2179	AAC50775.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2762221	Chr.16:89610380 - 90039318 on Build GRCh38	Gain+Loss	ZNF276 CDK10 TCF25 GAS8 SPATA33 LOC107984817 DBNDD1 FANCA MC1R LOC105371419 DEF8 VPS9D1 GAS8-AS1 AFG3L1P VPS9D1-AS1 SPATA2L CENPBD1 TUBB3 DPEP1 SPIRE2 CHMP1A
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	ZNF276 TCF25 GAS8 SPATA33 RPL13 LOC107984817 LOC100287036 SNORD68 MC1R LOC105371414 DEF8 VPS9D1 VPS9D1-AS1 PRDM7 CPNE7 TUBB3 SPG7 ZNF778 SPIRE2 CDK10 URAHP DBNDD1 FANCA TUBB8P7 FAM157C LOC105371419 LOC101927817 GAS8-AS1 AFG3L1P SPATA2L CENPBD1 ANKRD11 DPEP1 CHMP1A
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	CDK10 SPATA33 SPATA2L DPEP1 CHMP1A
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	SNORD68 LOC101927817 SPATA33 RPL13 ANKRD11 CPNE7 SPG7 DPEP1 CHMP1A
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	SPATA33 CDT1 LOC107987238 LOC100287036 SNORD68 MC1R LOC105371414 SNAI3-AS1 TUBB3 LOC400558 ZNF778 SPIRE2 APRT LOC100129697 CTU2 ACSF3 CBFA2T3 MIR4722 FAM157C LOC105371419 LOC101927817 LINC00304 GALNS GAS8-AS1 AFG3L1P DPEP1 CHMP1A ZNF276 SLC22A31 TCF25 LOC105371409 GAS8 RPL13 LOC107984817 CDH15 RNF166 MVD DEF8 VPS9D1 VPS9D1-AS1 SNAI3 TRAPPC2L PRDM7 CPNE7 SPG7 IL17C CDK10 URAHP LOC339059 LOC101927793 DBNDD1 FANCA TUBB8P7 CYBA LOC100289580 SPATA2L CENPBD1 ANKRD11 PABPN1L PIEZO1
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	ZNF276 CDK10 SPATA33 RPL13 FANCA SNORD68 VPS9D1 VPS9D1-AS1 SPATA2L CPNE7 SPG7 DPEP1 CHMP1A
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	SNORD68 SPATA33 RPL13 CPNE7 SPG7 DPEP1 CHMP1A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

cell separation after cytokinesis
transcription, DNA-templated
proteolysis
nucleus organization
vacuolar transport
mitotic chromosome condensation
mitotic metaphase plate congression
regulation of centrosome duplication
protein transport
vesicle-mediated transport
gene silencing
multivesicular body assembly
viral budding via host ESCRT complex
negative regulation of transcription by glucose
negative regulation of transcription, DNA-templated
cell division
regulation of mitotic spindle assembly
ESCRT III complex disassembly

Function(s)

protein binding
metallopeptidase activity
zinc ion binding
protein domain specific binding
identical protein binding
protein homodimerization activity