Hs02804352_cn

• Gene Symbol: DENND6A
• Assay Reference Genome Location: Chr.3:57626370 on build GRCh38
• Cytoband: 3p14.3

Target Gene Details

• Entrez Gene ID: 201627
• Gene Name: DENN domain containing 6A
• Gene Aliases: AFI1A, FAM116A
• Location: Chr.3:57625454-57693118 on Build GRCh38
• Assay Gene Location: Within Exon 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DENND6A	NM_152678.2	20	3742	NP_689891.1
	XM_006713019.3	20	3768	XP_006713082.1
	XM_006713020.2	21	3974	XP_006713083.1
	XM_017005864.1	21	3977	XP_016861353.1
	AK074156.1	20	3729
	AK092288.1	16	1654	BAC03852.1
	BC040291.1	20	3730	AAH40291.1

Target Gene Details

• Entrez Gene ID: 201626
• Gene Name: phosphodiesterase 12
• Gene Aliases: 2'-PDE, 2-PDE
• Location: Chr.3:57556247-57656480 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PDE12	NM_001322176.1			NP_001309105.1
	BM713922.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
esv3596235	Chr.3:57626005 - 57627619 on Build GRCh38	Loss	PDE12 DENND6A
nsv1008684	Chr.3:57537986 - 57766490 on Build GRCh38	Gain	PDE12 DENND6A ARF4-AS1 DNAH12 ARF4 SLMAP LOC101929159

More Information

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

Panther Classification:

Molecular Function -

mRNA polyadenylation factor

Gene Ontology Categories:

Process(es)

positive regulation of GTPase activity
positive regulation of cell-cell adhesion mediated by cadherin
mRNA processing
RNA phosphodiester bond hydrolysis, exonucleolytic

Function(s)

Rab guanyl-nucleotide exchange factor activity
poly(A)-specific ribonuclease activity
metal ion binding