Hs05470250_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89648498 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 4 - Exon 5

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
esv2715189	Chr.16:89647661 - 89648452 on Build GRCh38	Deletion	CHMP1A
esv2762221	Chr.16:89610380 - 90039318 on Build GRCh38	Gain+Loss	VPS9D1 SPATA2L GAS8-AS1 FANCA ZNF276 TUBB3 LOC105371419 AFG3L1P SPIRE2 CENPBD1 LOC107984817 SPATA33 TCF25 DPEP1 DBNDD1 GAS8 DEF8 VPS9D1-AS1 CHMP1A CDK10 MC1R
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	VPS9D1 SPATA2L ZNF276 TUBB8P7 TUBB3 ANKRD11 CENPBD1 SPATA33 DPEP1 GAS8 FAM157C RPL13 DEF8 CPNE7 SPG7 VPS9D1-AS1 CHMP1A CDK10 GAS8-AS1 LOC100287036 SNORD68 ZNF778 FANCA LOC105371419 PRDM7 AFG3L1P SPIRE2 LOC107984817 TCF25 DBNDD1 LOC105371414 URAHP LOC101927817 MC1R
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	SPATA33 DPEP1 SPATA2L CHMP1A CDK10
esv2715190	Chr.16:89648495 - 89649397 on Build GRCh38	Deletion	CHMP1A
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	SPATA33 DPEP1 RPL13 SNORD68 CPNE7 SPG7 CHMP1A LOC101927817 ANKRD11
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	CDH15 LOC107987238 TRAPPC2L SNAI3 ZNF276 TUBB8P7 LOC101927793 ANKRD11 GAS8 FAM157C RNF166 DEF8 SPG7 CHMP1A PABPN1L MIR4722 ACSF3 SPIRE2 PIEZO1 TCF25 DBNDD1 LOC105371414 URAHP LOC400558 LOC101927817 MC1R VPS9D1 SPATA2L LOC100289580 IL17C CYBA TUBB3 CENPBD1 GALNS SPATA33 DPEP1 LOC105371409 LOC100129697 RPL13 CPNE7 VPS9D1-AS1 SLC22A31 CDK10 CBFA2T3 MVD GAS8-AS1 CDT1 LOC100287036 SNORD68 ZNF778 FANCA LOC105371419 PRDM7 AFG3L1P LINC00304 LOC107984817 SNAI3-AS1 APRT CTU2 LOC339059
esv26093	Chr.16:89647512 - 89648437 on Build GRCh38	Gain+Loss	CHMP1A
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	VPS9D1 SPATA2L SNORD68 FANCA ZNF276 SPATA33 DPEP1 RPL13 CPNE7 SPG7 VPS9D1-AS1 CHMP1A CDK10
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	SPATA33 DPEP1 RPL13 SNORD68 CPNE7 SPG7 CHMP1A

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