Hs05427378_cn

• Gene Symbol: CHMP1A
• Assay Reference Genome Location: Chr.16:89652804 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 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	CHMP1A DPEP1 ZNF276 GAS8 MC1R SPATA33 TUBB3 DEF8 FANCA SPIRE2 LOC105371419 LOC107984817 AFG3L1P GAS8-AS1 CDK10 VPS9D1-AS1 SPATA2L VPS9D1 DBNDD1 TCF25 CENPBD1
nsv428331	Chr.16:89216635 - 90185980 on Build GRCh38	Gain+Loss	CHMP1A DPEP1 ZNF276 PRDM7 GAS8 SPATA33 SPG7 TUBB3 FANCA URAHP LOC105371419 AFG3L1P LOC100287036 GAS8-AS1 LOC101927817 TUBB8P7 SNORD68 FAM157C MC1R ZNF778 DEF8 CPNE7 SPIRE2 LOC107984817 LOC105371414 ANKRD11 CDK10 VPS9D1-AS1 SPATA2L VPS9D1 RPL13 DBNDD1 TCF25 CENPBD1
nsv573739	Chr.16:89625890 - 89696855 on Build GRCh38	Gain	CHMP1A DPEP1 CDK10 SPATA33 SPATA2L
nsv1063483	Chr.16:89347250 - 89661187 on Build GRCh38	Gain	SNORD68 CHMP1A DPEP1 ANKRD11 LOC101927817 SPATA33 SPG7 CPNE7 RPL13
nsv482951	Chr.16:88633593 - 90228345 on Build GRCh38	Loss	CHMP1A DPEP1 ACSF3 LOC400558 ZNF276 PRDM7 GALNS LOC107987238 IL17C CTU2 APRT URAHP SLC22A31 SNAI3 LOC100287036 GAS8-AS1 LOC101927817 LINC00304 TUBB8P7 SNORD68 CYBA PIEZO1 MC1R ZNF778 DEF8 CPNE7 LOC105371414 CDK10 MVD SPATA2L DBNDD1 TCF25 CENPBD1 RNF166 PABPN1L GAS8 SPATA33 SPG7 TUBB3 FANCA LOC101927793 LOC105371419 TRAPPC2L AFG3L1P CDT1 FAM157C CBFA2T3 LOC100129697 SPIRE2 LOC105371409 LOC107984817 MIR4722 ANKRD11 CDH15 LOC339059 VPS9D1-AS1 LOC100289580 VPS9D1 RPL13 SNAI3-AS1
nsv509639	Chr.16:89513538 - 89775915 on Build GRCh38	Insertion	SNORD68 CHMP1A DPEP1 ZNF276 SPATA33 SPG7 CPNE7 FANCA CDK10 VPS9D1-AS1 SPATA2L VPS9D1 RPL13
nsv1066382	Chr.16:89537178 - 89661187 on Build GRCh38	Gain	SNORD68 CHMP1A DPEP1 SPATA33 SPG7 CPNE7 RPL13

More Information

Additional Information:

For this assay, SNP(s) [rs76311593] 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, 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