Hs03426617_cn

• Gene Symbol: TGFBRAP1
• Assay Reference Genome Location: Chr.2:105264547 on build GRCh38
• Cytoband: 2q12.1

Target Gene Details

• Entrez Gene ID: 9392
• Gene Name: transforming growth factor beta receptor associated protein 1
• Gene Aliases: TRAP-1, TRAP1, VPS3
• Location: Chr.2:105249404-105329714 on Build GRCh38
• Assay Gene Location: Within Exon 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TGFBRAP1	NM_001142621.2	12	5523	NP_001136093.1
	NM_004257.5	12	5526	NP_004248.2
	XM_011512193.2			XP_011510495.1
	XM_017005339.1	11	5019	XP_016860828.1
	BM672953.1	1	151

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1012462	Chr.2:105183092 - 105294801 on Build GRCh38	Gain	TGFBRAP1 GPR45
nsv582577	Chr.2:105167153 - 105302140 on Build GRCh38	Loss	TGFBRAP1 GPR45

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

regulation of transcription, DNA-templated
intracellular protein transport
signal transduction
transforming growth factor beta receptor signaling pathway
endosome to lysosome transport
endosomal vesicle fusion

Function(s)

transforming growth factor beta receptor binding
protein binding
SMAD binding