Hs05446466_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89655178 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 Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHMP1A	NM_001083314.3			NP_001076783.1
	NM_002768.4			NP_002759.2
	NR_046418.2
	XM_011523098.1			XP_011521400.1
	AF281063.1			AAG01448.1
	AK302055.1
	BC132711.1
	BC132713.1
	BG480548.1
	BI826757.1
	BX363674.2
	CF131483.1
	D38554.1			BAA07557.1
	HY008690.1
	HY089525.1
	U58048.1			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	DEF8 AFG3L1P LOC105371419 FANCA VPS9D1 LOC107984817 MC1R SPATA33 CENPBD1 TCF25 GAS8-AS1 CHMP1A VPS9D1-AS1 SPATA2L SPIRE2 TUBB3 ZNF276 GAS8 DPEP1 CDK10 DBNDD1
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	DEF8 AFG3L1P LOC101927817 MC1R SPG7 SPATA33 GAS8-AS1 VPS9D1-AS1 SPATA2L SPIRE2 TUBB3 URAHP DPEP1 LOC105371414 LOC105371419 PRDM7 FANCA VPS9D1 LOC107984817 SNORD68 CENPBD1 TCF25 CHMP1A LOC100287036 CPNE7 FAM157C ZNF276 TUBB8P7 GAS8 CDK10 ANKRD11 ZNF778 DBNDD1 RPL13
esv2715194	Chr.16:89655195 - 89655689 on Build GRCh38	Deletion	CHMP1A
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	SPATA2L SPATA33 DPEP1 CDK10 CHMP1A
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	CPNE7 LOC101927817 SNORD68 SPG7 SPATA33 DPEP1 CHMP1A ANKRD11 RPL13
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	DEF8 RNF166 LOC101927817 MC1R GALNS LOC400558 GAS8-AS1 LOC100129697 SNAI3 SPIRE2 URAHP DPEP1 LOC105371414 SNAI3-AS1 MIR4722 CTU2 CYBA CDH15 PRDM7 VPS9D1 LOC107984817 SNORD68 TRAPPC2L CBFA2T3 FAM157C SLC22A31 ZNF276 TUBB8P7 LOC100289580 CDK10 ANKRD11 AFG3L1P LOC101927793 LOC105371409 SPG7 SPATA33 MVD PIEZO1 ACSF3 CDT1 VPS9D1-AS1 SPATA2L TUBB3 LOC107987238 LOC105371419 FANCA CENPBD1 TCF25 CHMP1A LOC100287036 CPNE7 LINC00304 IL17C GAS8 APRT PABPN1L ZNF778 DBNDD1 LOC339059 RPL13
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	FANCA VPS9D1 SNORD68 SPG7 SPATA33 CHMP1A CPNE7 VPS9D1-AS1 SPATA2L ZNF276 DPEP1 CDK10 RPL13
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	CPNE7 SNORD68 SPG7 SPATA33 DPEP1 CHMP1A RPL13

More Information

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

Panther Classification:

Molecular Function -

membrane traffic protein, C2H2 zinc finger transcription factor

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