Hs01667040_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89645389 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 Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
CHMP1A	NM_001083314.3	6	1445	NP_001076783.1
	NM_002768.4	7	1465	NP_002759.2
	NR_046418.2	7	1633
	AK302055.1	6	739
	BC010000.2	2	1053	AAH10000.2
	D38554.1	7	1333	BAA07557.1
	U58048.1	7	1522	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	SPATA33 LOC105371419 FANCA GAS8-AS1 AFG3L1P DEF8 TUBB3 VPS9D1 TCF25 CHMP1A MC1R SPIRE2 GAS8 CDK10 CENPBD1 VPS9D1-AS1 ZNF276 DBNDD1 DPEP1 SPATA2L LOC107984817
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	SPATA33 ANKRD11 FANCA GAS8-AS1 AFG3L1P TUBB3 VPS9D1 CPNE7 SNORD68 SPIRE2 GAS8 CENPBD1 URAHP RPL13 FAM157C DBNDD1 SPATA2L LOC105371419 LOC105371414 ZNF778 LOC101927817 TUBB8P7 DEF8 TCF25 CHMP1A LOC100287036 MC1R CDK10 PRDM7 VPS9D1-AS1 SPG7 ZNF276 DPEP1 LOC107984817
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	SPATA33 CDK10 DPEP1 SPATA2L CHMP1A
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	SPATA33 ANKRD11 RPL13 SPG7 LOC101927817 DPEP1 CPNE7 SNORD68 CHMP1A
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	CDT1 SNAI3 LINC00304 AFG3L1P ACSF3 LOC339059 TUBB3 VPS9D1 CPNE7 SNORD68 LOC100129697 SPIRE2 GAS8 MIR4722 RPL13 DBNDD1 SPATA2L LOC105371414 LOC400558 CBFA2T3 TCF25 LOC100287036 LOC100289580 CDK10 CTU2 VPS9D1-AS1 ZNF276 SNAI3-AS1 DPEP1 TRAPPC2L LOC107984817 SPATA33 ANKRD11 FANCA GAS8-AS1 RNF166 CDH15 PIEZO1 GALNS LOC101927793 CENPBD1 URAHP FAM157C LOC105371419 ZNF778 PABPN1L LOC101927817 TUBB8P7 DEF8 APRT CHMP1A LOC105371409 MC1R LOC107987238 PRDM7 SPG7 IL17C CYBA MVD SLC22A31
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	SPATA33 FANCA VPS9D1 CPNE7 SNORD68 CHMP1A CDK10 RPL13 VPS9D1-AS1 SPG7 ZNF276 DPEP1 SPATA2L
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	SPATA33 RPL13 SPG7 DPEP1 CPNE7 SNORD68 CHMP1A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

membrane traffic protein

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