Hs03634692_cn

• Gene Symbol: RABGEF1
• Assay Reference Genome Location: Chr.7:66748653 on build GRCh38
• Cytoband: 7q11.21

Target Gene Details

• Entrez Gene ID: 27342
• Gene Name: RAB guanine nucleotide exchange factor 1
• Gene Aliases: RABEX5, RAP1, rabex-5
• Location: Chr.7:66682091-66811464 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
RABGEF1	NM_001287060.1			NP_001273989.1
	NM_001287062.1			NP_001273991.1
	NM_014504.2			NP_055319.1
	AJ250042.1			CAB57359.1
	AK056864.1
	AK223329.1			BAD97049.1
	AK290678.1
	BC015330.1			AAH15330.1
	CN305879.1
	DA196847.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3891135	Chr.7:66376216 - 66777606 on Build GRCh38	Gain	LOC100996437 KCTD7 RABGEF1 LINC00174 GS1-124K5.4 GS1-124K5.11

More Information

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

Panther Classification:

Molecular Function -

guanyl-nucleotide exchange factor

Gene Ontology Categories:

Process(es)

negative regulation of protein phosphorylation
negative regulation of leukocyte migration
protein targeting to membrane
endocytosis
protein ubiquitination
negative regulation of mast cell degranulation
positive regulation of GTPase activity
negative regulation of Ras protein signal transduction
negative regulation of receptor-mediated endocytosis
negative regulation of inflammatory response
regulation of Fc receptor mediated stimulatory signaling pathway
negative regulation of interleukin-6 secretion
negative regulation of Kit signaling pathway

Function(s)

DNA binding
protein binding
zinc ion binding
Rab guanyl-nucleotide exchange factor activity
Rab GTPase binding
ubiquitin protein ligase activity