Hs05778609_cn

• Gene Symbol: PHLDA3
• Assay Reference Genome Location: Chr.1:201464570 on build GRCh38
• Cytoband: 1q32.1

Target Gene Details

• Entrez Gene ID: 23612
• Gene Name: pleckstrin homology like domain family A member 3
• Gene Aliases: TIH1
• Location: Chr.1:201464284-201469171 on Build GRCh38
• Assay Gene Location: Within Exon 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHLDA3	NM_012396.4	2	2440	NP_036528.1
	AI083980.1
	AI188803.1	1	198
	AI624156.1	1	295
	AI678238.1
	AI870979.1	1	74
	AW194162.1
	AW513769.1
	BE778799.1
	BE892338.1	1	581
	BG990425.1
	BM996951.1	1	88
	BQ000725.1
	CA406398.1	1	240
	N94465.1
	W30744.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv832315	Chr.1:201364463 - 201525988 on Build GRCh38	Loss	PHLDA3 CSRP1 TNNI1 LAD1 LOC107985246 RPS10P7 TNNT2
nsv470776	Chr.1:201319827 - 201534604 on Build GRCh38	Gain	PHLDA3 CSRP1 PKP1 TNNI1 LAD1 LOC107985246 RPS10P7 TNNT2
nsv467961	Chr.1:201316584 - 201534604 on Build GRCh38	Gain	PHLDA3 CSRP1 PKP1 TNNI1 LAD1 LOC107985246 RPS10P7 TNNT2
nsv832326	Chr.1:201375720 - 201475887 on Build GRCh38	Loss	PHLDA3 TNNI1 LAD1 TNNT2
nsv947466	Chr.1:201308515 - 201540498 on Build GRCh38	Duplication	PHLDA3 CSRP1 PKP1 TNNI1 LAD1 LOC107985246 RPS10P7 TNNT2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

anatomical structure morphogenesis
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator
positive regulation of apoptotic process
negative regulation of protein kinase B signaling

Function(s)

phosphatidylinositol-4,5-bisphosphate binding
phosphatidylinositol-3,4,5-trisphosphate binding
phosphatidylinositol-5-phosphate binding
phosphatidylinositol-3-phosphate binding
phosphatidylinositol-3,4-bisphosphate binding
phosphatidylinositol-3,5-bisphosphate binding