Hs02332169_cn

• Gene Symbol: PLEKHA4
• Assay Reference Genome Location: Chr.19:48861636 on build GRCh38
• Cytoband: 19q13.33

Target Gene Details

• Entrez Gene ID: 57664
• Gene Name: pleckstrin homology domain containing A4
• Gene Aliases: PEPP1
• Location: Chr.19:48837092-48868627 on Build GRCh38
• Assay Gene Location: Overlaps Intron 4 - Exon 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHA4	NM_001161354.1			NP_001154826.1
	NM_020904.2			NP_065955.2
	XM_005259107.2			XP_005259164.1
	XM_006723301.2			XP_006723364.1
	XM_011527157.1			XP_011525459.1
	XM_011527158.2			XP_011525460.1
	XM_011527159.1			XP_011525461.1
	XM_011527160.1			XP_011525462.1
	XM_017027037.1			XP_016882526.1
	AB208908.1			BAD92145.1
	AY007233.1			AAG01896.1
	BC024157.2			AAH24157.1
	BC064601.1			AAH64601.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv9739	Chr.19:47901840 - 50143063 on Build GRCh38	Gain+Loss	FGF21 SCAF1 ALDH16A1 FTL PIH1D1 FUT1 PLA2G4C-AS1 KCNA7 CABP5 PRRG2 PTOV1-AS1 PTH2 LOC105372430 SULT2B1 RASIP1 IL4I1 ZNF114 FCGRT NUCB1-AS1 NTN5 SNAR-B1 RPS11 SNAR-B2 GRIN2D EMP3 CD37 PRMT1 SNAR-A8 SIGLEC16 ATF5 MIR6798 SNAR-C4 CCDC155 C19orf73 BSPH1 PPP1R15A CPT1C FUZ SNAR-A2 SNAR-C2 GRWD1 SNAR-G1 MIR6799 SNORD35B SNAR-A9 SNORD34 TSKS FAM83E AKT1S1 SNAR-A1 SNAR-A3 LOC101928295 MIR4324 SNORD35A SNAR-A14 LIN7B SNAR-A10 DBP MIR5088 SNAR-A11 RPL13A MIR150 SEC1P IRF3 MIR4751 SNAR-C5 BAX SYNGR4 SNAR-C3 SNAR-C1 SNORD33 CCDC114 SNRNP70 SLC6A16 CGB2 GYS1 BCL2L12 LHB CGB7 PTOV1-AS2 GFY TEAD2 CARD8 SNAR-D SNORD32A FUT2 CGB5 RCN3 NUCB1 LIG1 SPHK2 TULP2 SNAR-A6 RPL18 MIR4750 SNAR-A13 CA11 PPFIA3 NOSIP RRAS FLT3LG SNAR-A5 TRPM4 CYTH2 PRR12 SNAR-A12 LOC101059948 NTF4 CGB3 FLJ26850 NUP62 MIR6800 SLC17A7 MAMSTR LOC100287477 LMTK3 PLA2G4C HSD17B14 TMEM143 MED25 IZUMO1 PTOV1 SNAR-G2 SNAR-A7 DHDH ZNF473 CGB8 HRC ADM5 BCAT2 KCNJ14 CARD8-AS1 AP2A1 SIGLEC11 PLEKHA4 PNKP KDELR1 LOC105447645 DKKL1 C19orf68 ELSPBP1 SNAR-A4 MIR4749 RUVBL2 TBC1D17 CGB1 SPACA4 VRK3
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	DHDH GYS1 PLEKHA4 NUCB1 PPP1R15A FTL TULP2 BAX NUCB1-AS1
nsv833855	Chr.19:48750098 - 48949781 on Build GRCh38	Loss	DHDH HSD17B14 PLEKHA4 NUCB1 FGF21 PPP1R15A TULP2 FUT1 BCAT2 NUCB1-AS1

More Information

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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

1-phosphatidylinositol binding