Hs01234252_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89657608 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: Overlaps Intron 1 - Exon 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	AFG3L1P VPS9D1 ZNF276 CENPBD1 GAS8 SPATA33 DEF8 LOC105371419 DBNDD1 TUBB3 CHMP1A CDK10 SPIRE2 TCF25 GAS8-AS1 FANCA MC1R DPEP1 LOC107984817 SPATA2L VPS9D1-AS1
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	AFG3L1P VPS9D1 PRDM7 CENPBD1 LOC101927817 SNORD68 FAM157C GAS8 LOC105371414 DEF8 LOC105371419 TUBB3 CHMP1A CDK10 SPIRE2 TCF25 ANKRD11 GAS8-AS1 FANCA MC1R VPS9D1-AS1 ZNF276 LOC100287036 ZNF778 SPATA33 SPG7 DBNDD1 TUBB8P7 URAHP RPL13 CPNE7 DPEP1 LOC107984817 SPATA2L
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	CDK10 SPATA33 CHMP1A DPEP1 SPATA2L
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	LOC101927817 SNORD68 ANKRD11 SPATA33 SPG7 RPL13 CPNE7 CHMP1A DPEP1
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	AFG3L1P CDH15 PRDM7 LOC101927817 SNORD68 FAM157C GAS8 LOC105371414 DEF8 TUBB3 RNF166 CDK10 SPIRE2 GAS8-AS1 LOC100289580 FANCA SLC22A31 MC1R LOC101927793 APRT PIEZO1 VPS9D1-AS1 SNAI3 ZNF276 LOC100287036 SPATA33 CTU2 SPG7 DBNDD1 MIR4722 URAHP SNAI3-AS1 RPL13 LOC107987238 DPEP1 LOC107984817 SPATA2L VPS9D1 CENPBD1 IL17C CBFA2T3 LOC105371419 CHMP1A CYBA LOC339059 LOC400558 TCF25 ANKRD11 LOC100129697 GALNS TRAPPC2L CDT1 PABPN1L ZNF778 ACSF3 TUBB8P7 LINC00304 CPNE7 MVD LOC105371409
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	VPS9D1 ZNF276 SNORD68 SPATA33 SPG7 CHMP1A CDK10 FANCA RPL13 CPNE7 DPEP1 SPATA2L VPS9D1-AS1
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	SNORD68 SPATA33 SPG7 RPL13 CPNE7 CHMP1A DPEP1

More Information

• Set Membership: Intragenic, 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