Hs01730187_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89653913 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 - Intron 2

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
	BT006841.1			AAP35487.1
	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	DPEP1 AFG3L1P VPS9D1-AS1 CENPBD1 GAS8 GAS8-AS1 LOC107984817 ZNF276 SPATA2L SPIRE2 TCF25 TUBB3 CHMP1A MC1R FANCA VPS9D1 CDK10 DEF8 SPATA33 DBNDD1 LOC105371419
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	DPEP1 CPNE7 CENPBD1 GAS8 LOC107984817 ZNF276 SPIRE2 TUBB3 LOC100287036 MC1R LOC101927817 TUBB8P7 VPS9D1 DBNDD1 LOC105371419 PRDM7 SPG7 AFG3L1P URAHP LOC105371414 VPS9D1-AS1 ZNF778 GAS8-AS1 SPATA2L TCF25 CHMP1A FANCA ANKRD11 SNORD68 FAM157C CDK10 DEF8 SPATA33 RPL13
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	DPEP1 CHMP1A CDK10 SPATA33 SPATA2L
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	SPG7 DPEP1 CHMP1A LOC101927817 ANKRD11 CPNE7 SNORD68 SPATA33 RPL13
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	DPEP1 CPNE7 LOC107987238 CDT1 CENPBD1 GAS8 LOC107984817 ZNF276 CBFA2T3 LINC00304 MC1R LOC101927817 TUBB8P7 VPS9D1 CTU2 GALNS IL17C DBNDD1 LOC105371419 SPG7 CYBA AFG3L1P URAHP PABPN1L VPS9D1-AS1 TRAPPC2L LOC100289580 ZNF778 GAS8-AS1 SPATA2L LOC105371409 ANKRD11 SNORD68 CDK10 DEF8 MVD SLC22A31 RPL13 SPIRE2 CDH15 TUBB3 LOC100287036 PIEZO1 LOC339059 PRDM7 LOC400558 SNAI3 LOC105371414 LOC101927793 ACSF3 TCF25 CHMP1A FANCA LOC100129697 RNF166 FAM157C MIR4722 SNAI3-AS1 SPATA33 APRT
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	SPG7 DPEP1 CPNE7 VPS9D1-AS1 ZNF276 SPATA2L CHMP1A FANCA VPS9D1 SNORD68 CDK10 SPATA33 RPL13
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	SPG7 DPEP1 CHMP1A CPNE7 SNORD68 SPATA33 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