Hs04025468_cn

• Gene Symbol: PLEKHA4
• Assay Reference Genome Location: Chr.19:48857420 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 10 - Exon 10

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_011527162.2			XP_011525464.1
	XM_017027037.1			XP_016882526.1
	AB208908.1			BAD92145.1
	AY007233.1			AAG01896.1
	BC024157.2			AAH24157.1
	BC033832.1			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	LHB IZUMO1 ZNF473 CGB7 AP2A1 SNAR-A14 SULT2B1 EMP3 CCDC155 SCAF1 LOC101928295 LIN7B IL4I1 PLA2G4C MIR4750 FUT2 IRF3 NTF4 CGB3 CCDC114 PNKP BCL2L12 MIR5088 TMEM143 TRPM4 KCNA7 MED25 MIR4751 SNORD34 ZNF114 FUT1 SNAR-B1 CARD8 FGF21 SNAR-A5 GRIN2D GRWD1 DHDH ATF5 SNAR-C4 FAM83E LOC105372430 RPS11 FUZ LMTK3 SLC17A7 CABP5 SNAR-G1 RPL18 SNAR-A9 PTH2 MAMSTR DBP HSD17B14 TSKS AKT1S1 SPACA4 SEC1P KCNJ14 SNAR-A8 FTL FLJ26850 SNAR-G2 NUCB1-AS1 TEAD2 NUCB1 BSPH1 SNORD35B FLT3LG RASIP1 TBC1D17 SNRNP70 SPHK2 SNAR-A3 SNORD32A NUP62 MIR6799 SNORD33 LIG1 GFY VRK3 KDELR1 SYNGR4 RRAS LOC100287477 BAX ELSPBP1 SNAR-A10 MIR6800 PTOV1-AS2 SNAR-A11 CD37 PIH1D1 RUVBL2 SIGLEC11 CGB8 CYTH2 SNAR-A4 BCAT2 ADM5 SNAR-A1 FCGRT PRR12 PLEKHA4 RPL13A MIR4749 PRRG2 NOSIP HRC MIR150 SNAR-A13 CPT1C CGB2 PPFIA3 SNAR-D PRMT1 SNAR-C1 SNAR-A6 SNAR-A7 SLC6A16 RCN3 LOC105447645 GYS1 SNAR-A12 SNAR-C2 PTOV1 DKKL1 SNORD35A SNAR-C3 SIGLEC16 CARD8-AS1 MIR4324 NTN5 C19orf73 ALDH16A1 LOC101059948 PTOV1-AS1 TULP2 CA11 SNAR-A2 PPP1R15A SNAR-C5 CGB1 PLA2G4C-AS1 CGB5 SNAR-B2 C19orf68 MIR6798
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	PLEKHA4 PPP1R15A NUCB1-AS1 NUCB1 DHDH TULP2 GYS1 FTL BAX
nsv833855	Chr.19:48750098 - 48949781 on Build GRCh38	Loss	PLEKHA4 PPP1R15A NUCB1-AS1 HSD17B14 FGF21 NUCB1 BCAT2 DHDH TULP2 FUT1

More Information

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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

1-phosphatidylinositol binding