Hs03722792_cn

• Gene Symbol: INPP5E
• Assay Reference Genome Location: Chr.9:136433953 on build GRCh38
• Cytoband: 9q34.3

Target Gene Details

• Entrez Gene ID: 56623
• Gene Name: inositol polyphosphate-5-phosphatase E
• Gene Aliases: CORS1, CPD4, JBTS1, MORMS, PPI5PIV
• Location: Chr.9:136428615-136439861 on Build GRCh38
• Assay Gene Location: Within Intron 3

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INPP5E	NM_001318502.1			NP_001305431.1
	NM_019892.5			NP_063945.2
	XM_017014926.1			XP_016870415.1
	AF187891.1			AAF81404.1
	AL832846.1
	BC028032.1			AAH28032.1
	BE314630.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	PMPCA CARD9 SEC16A INPP5E SNAPC4 SDCCAG3
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	PMPCA CARD9 SEC16A GPSM1 INPP5E SNAPC4 SDCCAG3 DNLZ
nsv6766	Chr.9:136414215 - 136448876 on Build GRCh38	Insertion	PMPCA SEC16A INPP5E
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	SNORA17A MIR4673 LCN6 LOC100128593 LOC101930307 LCN10 LCN8 MIR6722 TMEM141 NOTCH1 MIR4479 MIR4292 CCDC183-AS1 C9orf163 FBXW5 DPP7 HSPC324 SNHG7 AGPAT2 RABL6 PHPT1 MAN1B1 TRAF2 UAP1L1 ENTPD2 SDCCAG3 FAM69B MAMDC4 FUT7 C9orf172 NPDC1 CARD9 MIR3621 SNAPC4 EGFL7 PRR31 CLIC3 PMPCA LCN15 SNORA17B ABCA2 SAPCD2 CCDC183 TMEM210 NALT1 SEC16A MIR126 EDF1 PTGDS C9orf142 LRRC26 C8G MAN1B1-AS1 LINC01451 LCN12 C9orf139 LCNL1 INPP5E GRIN1 MIR4674 DNLZ
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	MAMDC4 SNORA17A C9orf172 CARD9 MIR4673 LCN6 LOC100128593 SNAPC4 EGFL7 LCN10 PMPCA LCN15 SNORA17B GPSM1 LCN8 MIR6722 CCDC183 TMEM141 NOTCH1 MIR4479 MIR4292 NALT1 SEC16A CCDC183-AS1 MIR126 EDF1 C9orf163 HSPC324 SNHG7 AGPAT2 RABL6 PHPT1 TRAF2 LINC01451 INPP5E MIR4674 SDCCAG3 DNLZ FAM69B
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	CARD9 SEC16A C9orf163 NACC2 DKFZP434A062 QSOX2 LOC101928722 ESP33 CAMSAP1 SNAPC4 LOC107987142 C9orf69 PMPCA UBAC1 GPSM1 LHX3 CCDC187 LOC105376323 INPP5E NOTCH1 SDCCAG3 DNLZ
esv3622008	Chr.9:136429712 - 136457993 on Build GRCh38	Gain	SEC16A INPP5E
nsv615963	Chr.9:136386314 - 136474501 on Build GRCh38	Loss	PMPCA SEC16A INPP5E SNAPC4 SDCCAG3
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	CARD9 MIR4673 DKFZP434A062 QSOX2 LOC101928722 CAMSAP1 SNAPC4 LOC107987142 C9orf69 PMPCA GPSM1 NOTCH1 NALT1 SEC16A C9orf163 NACC2 ESP33 UBAC1 LHX3 CCDC187 LOC105376323 INPP5E MIR4674 SDCCAG3 DNLZ KCNT1

More Information

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

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

phosphatidylinositol biosynthetic process
biological_process
positive regulation of neuron projection development
inositol phosphate dephosphorylation
phosphatidylinositol dephosphorylation

Function(s)

phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
inositol-polyphosphate 5-phosphatase activity