Hs02940547_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89645592 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	1242	NP_001076783.1
	NM_002768.4	7	1262	NP_002759.2
	NR_046418.2	7	1430
	AK302055.1	6	536
	BC010000.2	2	850	AAH10000.2
	D38554.1	7	1130	BAA07557.1
	U58048.1	7	1319	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 MC1R DBNDD1 CHMP1A AFG3L1P SPATA2L LOC107984817 CENPBD1 SPATA33 VPS9D1 ZNF276 DEF8 GAS8 LOC105371419 SPIRE2 CDK10 TCF25 VPS9D1-AS1 FANCA GAS8-AS1 TUBB3
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	DPEP1 MC1R RPL13 AFG3L1P LOC107984817 CENPBD1 SPG7 LOC101927817 VPS9D1 ZNF276 FAM157C LOC105371419 TCF25 SNORD68 VPS9D1-AS1 FANCA GAS8-AS1 TUBB3 DBNDD1 LOC100287036 CHMP1A LOC105371414 URAHP SPATA2L SPATA33 PRDM7 CPNE7 DEF8 GAS8 SPIRE2 CDK10 ANKRD11 ZNF778 TUBB8P7
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	DPEP1 CDK10 CHMP1A SPATA2L SPATA33
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	CPNE7 DPEP1 RPL13 CHMP1A SNORD68 ANKRD11 SPATA33 SPG7 LOC101927817
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	DPEP1 MC1R LOC339059 LINC00304 RPL13 AFG3L1P SPG7 CYBA RNF166 IL17C MVD PABPN1L LOC100129697 VPS9D1-AS1 FANCA TUBB3 LOC400558 DBNDD1 PIEZO1 CHMP1A LOC100289580 URAHP SPATA2L PRDM7 CBFA2T3 DEF8 LOC105371409 CDT1 ANKRD11 TRAPPC2L SLC22A31 ACSF3 GALNS LOC107984817 CENPBD1 LOC101927817 VPS9D1 ZNF276 FAM157C LOC105371419 TCF25 SNORD68 LOC107987238 CDH15 GAS8-AS1 CTU2 LOC100287036 LOC105371414 APRT SPATA33 LOC101927793 CPNE7 GAS8 SPIRE2 SNAI3 CDK10 MIR4722 SNAI3-AS1 ZNF778 TUBB8P7
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	DPEP1 RPL13 CHMP1A SPATA2L SPATA33 SPG7 VPS9D1 ZNF276 CPNE7 CDK10 SNORD68 VPS9D1-AS1 FANCA
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	CPNE7 DPEP1 RPL13 CHMP1A SNORD68 SPATA33 SPG7

More Information

Additional Information:

For this assay, SNP(s) [rs145010051] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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