Hs04094066_cn

• Gene Symbol: RANGAP1
• Assay Reference Genome Location: Chr.22:41247849 on build GRCh38
• Cytoband: 22q13.2

Target Gene Details

• Entrez Gene ID: 5905
• Gene Name: Ran GTPase activating protein 1
• Gene Aliases: Fug1, RANGAP, SD
• Location: Chr.22:41244777-41302213 on Build GRCh38
• Assay Gene Location: Within Intron 22

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RANGAP1	NM_001278651.1			NP_001265580.1
	NM_001317930.1			NP_001304859.1
	NM_002883.3			NP_002874.1
	XM_005261695.1			XP_005261752.1
	XM_005261696.1			XP_005261753.1
	XM_006724289.3			XP_006724352.1
	XM_011530293.1			XP_011528595.1
	XM_011530294.2			XP_011528596.1
	XM_011530295.2			XP_011528597.1
	XM_017028893.1			XP_016884382.1
	XM_017028894.1			XP_016884383.1
	XM_017028895.1			XP_016884384.1
	XM_017028896.1			XP_016884385.1
	XM_017028897.1			XP_016884386.1
	XM_017028898.1			XP_016884387.1
	XM_017028899.1			XP_016884388.1
	AB058738.1
	AK302222.1
	AK303524.1
	BC004990.1			AAH04990.1
	BC014044.2			AAH14044.1
	BC019676.1			AAH19676.1
	BC041396.2			AAH41396.1
	CR456557.1			CAG30443.1
	X82260.1			CAA57714.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv589050	Chr.22:41231539 - 41454496 on Build GRCh38	Gain	LOC100996598 ZC3H7B MIR6889 RANGAP1 CHADL TOB2 TEF
nsv817997	Chr.22:41244293 - 41366866 on Build GRCh38	Gain	ZC3H7B MIR6889 RANGAP1
nsv524585	Chr.22:40993505 - 41794305 on Build GRCh38	Loss	EP300-AS1 CSDC2 EP300 ZC3H7B L3MBTL2 RANGAP1 CHADL C22orf46 XRCC6 TOB2 TEF LOC105373044 LOC100996598 SNU13 PHF5A MEI1 MIR1281 DESI1 SNORD140 MIR6889 POLR3H PMM1 ACO2
nsv589049	Chr.22:41168704 - 41276267 on Build GRCh38	Gain	EP300-AS1 EP300 MIR6889 L3MBTL2 RANGAP1 CHADL

More Information

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

Panther Classification:

Molecular Function -

GTPase-activating protein

Gene Ontology Categories:

Process(es)

sister chromatid cohesion
signal transduction
protein sumoylation
positive regulation of GTPase activity
negative regulation of protein export from nucleus
response to axon injury
cell-cell adhesion
cellular response to vasopressin

Function(s)

GTPase activator activity
protein binding
Ran GTPase binding
ubiquitin protein ligase binding
cadherin binding involved in cell-cell adhesion