Hs05800306_cn

• Gene Symbol: PHLDA3
• Assay Reference Genome Location: Chr.1:201466755 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 Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PHLDA3	NM_012396.4			NP_036528.1
	NR_073080.1
	AF151100.1			AAD42081.1
	AK075179.1			BAC11454.1
	AK222644.1			BAD96364.1
	BC014390.1			AAH14390.1
	BC068273.1			AAH68273.1
	CN356697.1

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	LOC107985246 CSRP1 TNNI1 PHLDA3 RPS10P7 LAD1 TNNT2
nsv470776	Chr.1:201319827 - 201534604 on Build GRCh38	Gain	LOC107985246 CSRP1 TNNI1 PHLDA3 PKP1 RPS10P7 LAD1 TNNT2
nsv467961	Chr.1:201316584 - 201534604 on Build GRCh38	Gain	LOC107985246 CSRP1 TNNI1 PHLDA3 PKP1 RPS10P7 LAD1 TNNT2
nsv832326	Chr.1:201375720 - 201475887 on Build GRCh38	Loss	TNNI1 PHLDA3 LAD1 TNNT2
nsv947466	Chr.1:201308515 - 201540498 on Build GRCh38	Duplication	LOC107985246 CSRP1 TNNI1 PHLDA3 PKP1 RPS10P7 LAD1 TNNT2

More Information

• Set Membership: Intragenic, Intronic, Non-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