Hs01488524_cn

• Gene Symbol: PLEKHA4
• Assay Reference Genome Location: Chr.19:48860477 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 5 - Exon 6

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

More Information

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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

1-phosphatidylinositol binding