Hs01784951_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89644590 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	2244	NP_001076783.1
	NM_002768.4	7	2264	NP_002759.2
	NR_046418.2	7	2432
	AI356110.1	1	165
	AI362697.1	1	165
	BC010000.2	2	1852	AAH10000.2
	D38554.1	7	2132	BAA07557.1
	U58048.1	7	2321	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	DBNDD1 LOC107984817 CDK10 CENPBD1 MC1R DEF8 FANCA SPIRE2 DPEP1 VPS9D1-AS1 CHMP1A AFG3L1P SPATA2L LOC105371419 GAS8-AS1 ZNF276 TCF25 SPATA33 TUBB3 VPS9D1 GAS8
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	ANKRD11 RPL13 LOC107984817 CDK10 CENPBD1 MC1R LOC105371414 DEF8 SPIRE2 PRDM7 CHMP1A SPATA2L GAS8-AS1 SPATA33 TUBB3 GAS8 DBNDD1 FAM157C TUBB8P7 FANCA DPEP1 LOC101927817 VPS9D1-AS1 LOC100287036 AFG3L1P LOC105371419 SPG7 ZNF276 TCF25 URAHP ZNF778 SNORD68 CPNE7 VPS9D1
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	CHMP1A CDK10 SPATA2L SPATA33 DPEP1
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	ANKRD11 CHMP1A RPL13 SPG7 SPATA33 SNORD68 CPNE7 DPEP1 LOC101927817
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	LOC100129697 RPL13 LOC107984817 CDK10 MC1R CBFA2T3 LOC400558 MVD CHMP1A PIEZO1 GAS8-AS1 SNAI3 SNAI3-AS1 SPATA33 PABPN1L TRAPPC2L TUBB3 GAS8 DBNDD1 FAM157C SLC22A31 TUBB8P7 LOC100289580 AFG3L1P LOC105371419 ZNF276 ZNF778 CPNE7 VPS9D1 ACSF3 ANKRD11 LOC107987238 CENPBD1 CTU2 LOC105371414 DEF8 SPIRE2 PRDM7 MIR4722 LINC00304 CDH15 LOC105371409 APRT SPATA2L IL17C RNF166 CYBA FANCA LOC101927793 DPEP1 LOC101927817 VPS9D1-AS1 CDT1 LOC100287036 LOC339059 SPG7 TCF25 URAHP GALNS SNORD68
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	RPL13 CDK10 FANCA DPEP1 VPS9D1-AS1 CHMP1A SPATA2L SPG7 ZNF276 SPATA33 SNORD68 CPNE7 VPS9D1
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	CHMP1A RPL13 SPG7 SPATA33 SNORD68 CPNE7 DPEP1

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