Hs03077488_cn

• Gene Symbol: DENND5A
• Assay Reference Genome Location: Chr.11:9152398 on build GRCh38
• Cytoband: 11p15.4

Target Gene Details

• Entrez Gene ID: 23258
• Gene Name: DENN domain containing 5A
• Gene Aliases: RAB6IP1
• Location: Chr.11:9138825-9265335 on Build GRCh38
• Assay Gene Location: Within Exon 15

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DENND5A	NM_001243254.1	13	2738	NP_001230183.1
	NM_015213.3	13	2738	NP_056028.2
	XM_005252832.1	13	2747	XP_005252889.1
	XM_011519953.2	8	1001	XP_011518255.1
	AB029014.1	13	2698
	AK025499.1	8	1349	BAB15155.1
	AK026007.1	6	814
	AK125444.1	5	2043
	AK294016.1
	AK295881.1	13	2499
	AK302478.1	10	2199
	AL117448.1	13	2494	CAB55932.2
	BC009354.2	9	1466	AAH09354.2
	BC071596.1	14	2543	AAH71596.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv33264	Chr.11:8986065 - 9289584 on Build GRCh38	Loss	KRT8P41 TMEM41B NRIP3 DENND5A MIR5691 SCUBE2
nsv526778	Chr.11:9138192 - 9163530 on Build GRCh38	Loss	DENND5A

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

retrograde transport, endosome to Golgi
positive regulation of GTPase activity
detection of mechanical stimulus
calcium ion transmembrane transport

Function(s)

calcium channel activity
Rab guanyl-nucleotide exchange factor activity
Rab GTPase binding