Hs02794247_cn

• Gene Symbol: PLEKHA4
• Assay Reference Genome Location: Chr.19:48837157 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 21

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PLEKHA4	NM_001161354.1	17	2727	NP_001154826.1
	NM_020904.2	20	3023	NP_065955.2
	XM_005259107.2	19	2943	XP_005259164.1
	XM_006723301.2	18	2884	XP_006723364.1
	XM_011527157.1	20	3030	XP_011525459.1
	XM_011527158.2	19	2869	XP_011525460.1
	XM_011527159.1	20	3043	XP_011525461.1
	XM_011527160.1	19	2971	XP_011525462.1
	XM_011527162.2	13	1639	XP_011525464.1
	XM_017027037.1	17	2307	XP_016882526.1
	AB208908.1	18	4515	BAD92145.1
	AY007233.1	20	2997	AAG01896.1
	BC024157.2	20	3003	AAH24157.1
	BC033832.1	12	1473	AAH33832.1
	BC064601.1	17	2554	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-G2 LMTK3 FAM83E SNAR-C2 SNAR-A9 SCAF1 MIR6800 SNAR-C3 SNAR-A7 NUCB1 RCN3 RRAS FCGRT MIR4750 MIR4749 CGB2 PTOV1 TMEM143 FUT1 SNAR-A10 C19orf73 CPT1C CYTH2 FLJ26850 ATF5 PTOV1-AS2 RPL13A RPL18 PRR12 MAMSTR CARD8-AS1 GRWD1 PIH1D1 HRC MIR6798 AP2A1 SNAR-C4 SNAR-A12 CABP5 LOC101059948 LIN7B ZNF114 SNAR-D SNAR-A14 BAX CCDC155 DKKL1 TEAD2 SNAR-A3 VRK3 CARD8 PRRG2 CD37 TBC1D17 KDELR1 FLT3LG SNAR-C5 SULT2B1 MIR150 MIR6799 SPACA4 PNKP LOC105372430 SNAR-B1 TULP2 GYS1 SNORD33 CA11 MED25 IZUMO1 SIGLEC16 SNORD34 AKT1S1 SNAR-A1 RPS11 IL4I1 LHB ELSPBP1 CGB3 SYNGR4 SNAR-C1 SNORD32A PPP1R15A SNAR-B2 PTH2 PLA2G4C-AS1 NUCB1-AS1 MIR4751 MIR5088 NTF4 CGB8 KCNA7 SNAR-A8 ZNF473 SNAR-A6 RUVBL2 MIR4324 CGB5 NOSIP FTL IRF3 ALDH16A1 RASIP1 PPFIA3 FUZ LOC100287477 SPHK2 LOC101928295 BSPH1 PTOV1-AS1 SNAR-A13 SNAR-A2 SEC1P EMP3 SNAR-G1 SNAR-A11 DHDH SNORD35B GFY SNRNP70 LIG1 FGF21 FUT2 ADM5 NTN5 C19orf68 SLC6A16 BCAT2 NUP62 CGB1 LOC105447645 SNAR-A4 BCL2L12 PLEKHA4 GRIN2D KCNJ14 TRPM4 PRMT1 DBP PLA2G4C SLC17A7 CGB7 HSD17B14 TSKS SNORD35A SIGLEC11 SNAR-A5 CCDC114
nsv833855	Chr.19:48750098 - 48949781 on Build GRCh38	Loss	FGF21 PLEKHA4 HSD17B14 PPP1R15A BCAT2 NUCB1-AS1 FUT1 NUCB1 DHDH TULP2

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

1-phosphatidylinositol binding