Hs02064623_cn

• Gene Symbol: MVB12A
• Assay Reference Genome Location: Chr.19:17425299 on build GRCh38
• Cytoband: 19p13.11

Target Gene Details

• Entrez Gene ID: 93343
• Gene Name: multivesicular body subunit 12A
• Gene Aliases: CFBP, FAM125A
• Location: Chr.19:17405686-17425339 on Build GRCh38
• Assay Gene Location: Within Exon 11

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MVB12A	NM_001304547.1	10	1344	NP_001291476.1
	NM_138401.3	9	1417	NP_612410.1
	AK057057.1	10	1902
	AK289487.1	9	1217
	BC007883.2	10	1127	AAH07883.2
	BC011840.2	9	1161	AAH11840.1
	BP394542.1	2	391

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv833768	Chr.19:17338840 - 17526738 on Build GRCh38	Loss	PLVAP BISPR FAM129C LOC105372343 NXNL1 PGLS MVB12A TMEM221 SLC27A1 GTPBP3 BST2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

autophagy
protein transport
virus maturation
multivesicular body assembly
viral budding via host ESCRT complex
regulation of epidermal growth factor receptor signaling pathway
ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway
positive regulation of viral process
regulation of viral budding via host ESCRT complex

Function(s)

protein binding
lipid binding
SH3 domain binding
ubiquitin binding