Hs00172606_cn

• Gene Symbol: PLEKHA4
• Assay Reference Genome Location: Chr.19:48852320 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 13 - Exon 14

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	11	3376	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	SNAR-A14 DHDH CYTH2 PIH1D1 SNAR-A5 DKKL1 CGB2 MIR5088 LMTK3 SPACA4 TSKS LOC105372430 FLT3LG MIR6798 FLJ26850 SNAR-A6 HSD17B14 SNAR-A3 LOC101928295 SNORD34 SNAR-G1 PLA2G4C-AS1 SYNGR4 SNAR-C5 RUVBL2 PPFIA3 FCGRT SNAR-C1 LIG1 ADM5 MIR4750 PLA2G4C MIR4751 FAM83E VRK3 RPL18 FUT2 SNORD33 SNAR-A2 SNAR-A4 SNAR-A11 SNRNP70 MIR6800 NTF4 SNAR-A8 TMEM143 ELSPBP1 NOSIP PNKP IZUMO1 SNORD35A SNAR-A13 C19orf73 SNAR-A12 NTN5 FGF21 RPS11 PTOV1-AS1 SNAR-A7 FUT1 SNAR-C2 CGB5 LIN7B RASIP1 LOC101059948 TULP2 CGB3 MIR150 PTOV1-AS2 SNORD32A NUCB1 KDELR1 SNAR-G2 C19orf68 SNAR-A9 SNORD35B SIGLEC16 KCNJ14 CGB1 AKT1S1 SNAR-B2 HRC NUP62 PTOV1 BCAT2 EMP3 CGB7 SNAR-D CPT1C GRIN2D LOC100287477 BSPH1 GYS1 CA11 SNAR-A10 GRWD1 RCN3 FUZ IL4I1 BCL2L12 SNAR-C3 ZNF114 MIR4749 ATF5 MAMSTR CGB8 IRF3 PTH2 BAX SLC17A7 PLEKHA4 ZNF473 TEAD2 SNAR-B1 CD37 ALDH16A1 FTL AP2A1 SLC6A16 CARD8 SNAR-C4 PRMT1 DBP SNAR-A1 SPHK2 MIR4324 LOC105447645 KCNA7 PRR12 SULT2B1 SEC1P TBC1D17 SCAF1 CCDC114 RRAS MED25 CABP5 PRRG2 SIGLEC11 MIR6799 RPL13A NUCB1-AS1 LHB CARD8-AS1 TRPM4 PPP1R15A GFY CCDC155
nsv833856	Chr.19:48847866 - 48986483 on Build GRCh38	Loss	GYS1 BAX DHDH PLEKHA4 NUCB1-AS1 FTL PPP1R15A TULP2 NUCB1
nsv833855	Chr.19:48750098 - 48949781 on Build GRCh38	Loss	DHDH FGF21 PLEKHA4 HSD17B14 NUCB1-AS1 FUT1 PPP1R15A BCAT2 TULP2 NUCB1

More Information

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

Gene Ontology Categories:

Process(es)

biological_process

Function(s)

1-phosphatidylinositol binding