Hs05994726_cn

• Gene Symbol: TGFBI
• Assay Reference Genome Location: Chr.5:136039853 on build GRCh38
• Cytoband: 5q31.1

Target Gene Details

• Entrez Gene ID: 7045
• Gene Name: transforming growth factor beta induced
• Gene Aliases: BIGH3, CDB1, CDG2, CDGG1, CSD, CSD1, CSD2, CSD3, EBMD, LCD1
• Location: Chr.5:136028895-136063818 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
TGFBI	NM_000358.2			NP_000349.1
	AK093916.1
	AK094055.1
	AK094581.1
	AK222833.1			BAD96553.1
	AK298603.1
	AK303643.1
	BC000097.2			AAH00097.1
	BC004972.1			AAH04972.1
	BT009820.1			AAP88822.1
	DA051240.1
	KU178357.1
	KU178358.1
	M77349.1			AAA61163.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv2759380	Chr.5:135829912 - 136139310 on Build GRCh38	Loss	FBXL21 LECT2 TGFBI SMAD5-AS1 SLC25A48 IL9 VTRNA2-1 SMAD5

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

cell adhesion molecule

Gene Ontology Categories:

Process(es)

angiogenesis
chondrocyte differentiation
cell adhesion
negative regulation of cell adhesion
visual perception
cell proliferation
extracellular matrix organization
cellular protein metabolic process
response to stimulus

Function(s)

integrin binding
protein binding
collagen binding
extracellular matrix binding