Hs01773476_cn

• Gene Symbol: PLEKHA4
• Assay Reference Genome Location: Chr.19:48841221 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: Within Exon 18

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHA4	NM_001161354.1			NP_001154826.1
	NM_020904.2	17	2384	NP_065955.2
	XM_005259107.2	16	2304	XP_005259164.1
	XM_006723301.2	16	2304	XP_006723364.1
	XM_011527157.1	17	2391	XP_011525459.1
	XM_011527158.2	16	2230	XP_011525460.1
	XM_011527159.1	17	2404	XP_011525461.1
	XM_011527160.1	17	2391	XP_011525462.1
	XM_011527162.2	10	1000	XP_011525464.1
	XM_017027037.1	14	1668	XP_016882526.1
	AB208908.1	15	3876	BAD92145.1
	AY007233.1	17	2358	AAG01896.1
	BC024157.2	17	2364	AAH24157.1
	BC033832.1	9	834	AAH33832.1
	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	SNAR-A12 CPT1C GRWD1 RPS11 SEC1P NUCB1-AS1 SNAR-G2 SPHK2 RASIP1 SNAR-A2 CARD8-AS1 SNAR-C3 CARD8 CA11 SNAR-A3 MIR6800 SYNGR4 MIR4751 GYS1 CD37 MIR4750 PPP1R15A SNRNP70 FUT1 FCGRT LOC105447645 ADM5 TMEM143 KDELR1 DBP ZNF473 CABP5 KCNA7 SNAR-A13 PRMT1 SNAR-C2 PRRG2 CGB3 SPACA4 MAMSTR SNAR-C1 SNAR-C4 LIN7B TSKS BAX SNAR-A11 SNAR-A4 CGB7 TEAD2 SNORD32A LHB NUCB1 LOC101928295 MIR150 IRF3 HRC KCNJ14 CGB5 NTF4 TBC1D17 NOSIP SNAR-A5 FLT3LG DHDH CGB8 NTN5 RCN3 SNORD34 BCL2L12 SLC6A16 SNAR-B1 ELSPBP1 PNKP SNAR-A10 LOC100287477 SNAR-A14 BSPH1 RPL13A SNAR-A8 GFY SIGLEC16 SNORD35B MIR4749 SCAF1 SNAR-G1 RRAS FTL PTOV1-AS2 SNAR-A6 FUT2 IZUMO1 LOC101059948 SNAR-A7 AKT1S1 NUP62 PIH1D1 ZNF114 SNAR-C5 FAM83E PPFIA3 TRPM4 RUVBL2 DKKL1 MIR6799 CCDC114 C19orf68 PLEKHA4 LMTK3 CGB1 MED25 PTOV1-AS1 ATF5 SNORD33 GRIN2D SNAR-A9 LIG1 MIR6798 IL4I1 C19orf73 FGF21 LOC105372430 EMP3 BCAT2 SNORD35A CGB2 AP2A1 PLA2G4C-AS1 VRK3 MIR5088 SLC17A7 SNAR-D CCDC155 ALDH16A1 PRR12 CYTH2 FLJ26850 FUZ PLA2G4C PTH2 SNAR-B2 SNAR-A1 MIR4324 RPL18 SIGLEC11 HSD17B14 SULT2B1 PTOV1 TULP2
nsv833855	Chr.19:48750098 - 48949781 on Build GRCh38	Loss	PLEKHA4 FGF21 NUCB1 PPP1R15A BCAT2 HSD17B14 FUT1 DHDH NUCB1-AS1 TULP2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

1-phosphatidylinositol binding