Hs04483488_cn

• Gene Symbol: PLEKHA4
• Assay Reference Genome Location: Chr.19:48855052 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 Intron 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	TRPM4 FUZ SNAR-A7 LIN7B ZNF114 SNORD35B CCDC155 C19orf68 CGB3 CGB5 SNRNP70 GRIN2D SNAR-B1 CGB8 MED25 LHB LOC101928295 SNAR-B2 ELSPBP1 ZNF473 PLA2G4C PRMT1 FLT3LG SNAR-A2 IZUMO1 NTF4 SNAR-A9 MIR6800 C19orf73 NOSIP CD37 PNKP LOC101059948 SNAR-A14 PIH1D1 KDELR1 BSPH1 CGB1 FLJ26850 CABP5 IRF3 SNAR-C3 SNAR-A1 MIR4749 SNAR-A4 RCN3 NUCB1-AS1 ADM5 CGB7 AKT1S1 SNAR-A3 RRAS SLC17A7 BAX SNAR-A11 EMP3 MIR4324 LMTK3 SULT2B1 SNORD32A SNAR-A12 LIG1 MIR5088 DHDH SNORD34 MIR6798 SNAR-C2 PLEKHA4 PTOV1 RPL18 SIGLEC11 TEAD2 BCL2L12 CARD8 CYTH2 SNAR-A6 SPACA4 NUP62 MIR6799 ATF5 FUT1 RUVBL2 SCAF1 MAMSTR FUT2 GYS1 NUCB1 PPP1R15A LOC105372430 FAM83E TSKS RPL13A SNORD33 FTL SNAR-D DKKL1 SNAR-C5 AP2A1 SNAR-G2 PTH2 TMEM143 HSD17B14 PRRG2 RASIP1 PTOV1-AS1 FGF21 VRK3 SPHK2 CARD8-AS1 LOC100287477 SNAR-C4 PRR12 CA11 GFY PPFIA3 SEC1P SNAR-C1 SLC6A16 SNAR-G1 SIGLEC16 SNORD35A NTN5 TBC1D17 SNAR-A10 LOC105447645 MIR4750 GRWD1 DBP CGB2 RPS11 CCDC114 PLA2G4C-AS1 CPT1C KCNA7 FCGRT SNAR-A5 HRC KCNJ14 BCAT2 ALDH16A1 SNAR-A13 PTOV1-AS2 IL4I1 TULP2 MIR150 SYNGR4 SNAR-A8 MIR4751
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	BAX TULP2 NUCB1-AS1 DHDH GYS1 PLEKHA4 FTL NUCB1 PPP1R15A
nsv833855	Chr.19:48750098 - 48949781 on Build GRCh38	Loss	BCAT2 FGF21 TULP2 NUCB1-AS1 DHDH PLEKHA4 HSD17B14 NUCB1 PPP1R15A FUT1

More Information

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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

1-phosphatidylinositol binding