Hs05513036_cn

• Gene Symbol: RAPGEFL1
• Assay Reference Genome Location: Chr.17:40180238 on build GRCh38
• Cytoband: 17q21.1

Target Gene Details

• Entrez Gene ID: 51195
• Gene Name: Rap guanine nucleotide exchange factor like 1
• Gene Aliases: Link-GEFII
• Location: Chr.17:40177010-40195656 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RAPGEFL1	NM_001303533.1			NP_001290462.1
	NM_001303534.1			NP_001290463.1
	NM_016339.4			NP_057423.1
	XM_006721932.3			XP_006721995.1
	XM_006721935.3			XP_006721998.1
	XM_006721937.3	1	772	XP_006722000.1
	AF117946.1			AAF22003.1
	AK304160.1
	AK313492.1
	DB265550.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv525796	Chr.17:40150112 - 40248785 on Build GRCh38	Gain	RAPGEFL1 MIR6866 CASC3 MIR6867 WIPF2
nsv833444	Chr.17:40086570 - 40281028 on Build GRCh38	Loss	MSL1 NR1D1 RAPGEFL1 MIR6866 CASC3 THRA MIR6867 WIPF2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

G-protein coupled receptor signaling pathway
small GTPase mediated signal transduction
nervous system development
positive regulation of GTPase activity

Function(s)

guanyl-nucleotide exchange factor activity