Hs01065840_cn

• Gene Symbol: GIT1
• Assay Reference Genome Location: Chr.17:29573531 on build GRCh38
• Cytoband: 17q11.2

Target Gene Details

• Entrez Gene ID: 28964
• Gene Name: GIT ArfGAP 1
• Gene Aliases: -
• Location: Chr.17:29573469-29589592 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GIT1	NM_001085454.1			NP_001078923.1
	NM_014030.3			NP_054749.2
	XM_011524684.1			XP_011522986.1
	XM_011524685.1			XP_011522987.1
	AF124490.1			AAD28046.1
	AK000863.1
	AK024826.1
	BC005031.1			AAH05031.1
	BC006227.2			AAH06227.2
	BC032098.1			AAH32098.1
	BC048196.1			AAH48196.1
	BM984210.1
	BX537553.1			CAD97779.1
	BX537554.1			CAD97780.1
	BX648097.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv521557	Chr.17:29562968 - 29595257 on Build GRCh38	Loss	GIT1 ABHD15 TP53I13 ANKRD13B
nsv833409	Chr.17:29465646 - 29655807 on Build GRCh38	Gain	GIT1 TAOK1 ABHD15 CORO6 TP53I13 ANKRD13B SSH2

More Information

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

Gene Ontology Categories:

Process(es)

regulation of G-protein coupled receptor protein signaling pathway
regulation of cytokinesis
positive regulation of GTPase activity
ephrin receptor signaling pathway

Function(s)

GTPase activator activity
protein binding
protein complex binding
metal ion binding