Hs00178601_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89649465 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 3 - Exon 4

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	SPIRE2 DBNDD1 AFG3L1P DEF8 VPS9D1 SPATA33 TUBB3 MC1R ZNF276 FANCA CHMP1A CENPBD1 VPS9D1-AS1 DPEP1 CDK10 GAS8-AS1 SPATA2L LOC105371419 LOC107984817 TCF25 GAS8
esv2715192	Chr.16:89649120 - 89649628 on Build GRCh38	Deletion	CHMP1A
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	SPIRE2 AFG3L1P DEF8 VPS9D1 LOC105371414 ZNF276 CENPBD1 ANKRD11 SNORD68 URAHP GAS8-AS1 LOC105371419 TUBB8P7 FAM157C DBNDD1 LOC101927817 SPATA33 PRDM7 TUBB3 MC1R RPL13 ZNF778 FANCA CHMP1A VPS9D1-AS1 CPNE7 SPG7 LOC100287036 DPEP1 CDK10 SPATA2L LOC107984817 TCF25 GAS8
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	CHMP1A DPEP1 SPATA33 CDK10 SPATA2L
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	RPL13 CHMP1A LOC101927817 CPNE7 SPG7 ANKRD11 DPEP1 SNORD68 SPATA33
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	DEF8 LOC100129697 APRT LOC105371414 RNF166 SNORD68 URAHP LOC105371419 CDT1 PIEZO1 FAM157C PABPN1L DBNDD1 SPATA33 TUBB3 CHMP1A CTU2 LINC00304 LOC107987238 TCF25 SPIRE2 AFG3L1P VPS9D1 MVD ZNF276 CENPBD1 ANKRD11 ACSF3 LOC100289580 LOC400558 GAS8-AS1 SNAI3 TUBB8P7 LOC101927817 GALNS SNAI3-AS1 CBFA2T3 CDH15 LOC101927793 MIR4722 CYBA PRDM7 MC1R RPL13 ZNF778 FANCA IL17C VPS9D1-AS1 CPNE7 SPG7 LOC100287036 DPEP1 LOC105371409 LOC339059 CDK10 SPATA2L SLC22A31 LOC107984817 TRAPPC2L GAS8
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	VPS9D1 SPATA33 ZNF276 RPL13 FANCA CHMP1A VPS9D1-AS1 CPNE7 SPG7 DPEP1 SNORD68 CDK10 SPATA2L
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	RPL13 CHMP1A CPNE7 SPG7 DPEP1 SNORD68 SPATA33

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