Hs01324823_cn

• Gene Symbol: INPP5E
• Assay Reference Genome Location: Chr.9:136432529 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: Overlaps Intron 6 - Exon 6

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

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	SEC16A CARD9 SNAPC4 PMPCA INPP5E SDCCAG3
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	SEC16A GPSM1 CARD9 SNAPC4 PMPCA INPP5E DNLZ SDCCAG3
nsv6766	Chr.9:136414215 - 136448876 on Build GRCh38	Insertion	SEC16A PMPCA INPP5E
esv2426973	Chr.9:136430956 - 136432876 on Build GRCh38	Deletion	INPP5E
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	PTGDS GRIN1 SNORA17B LCN15 MIR4292 LOC101930307 UAP1L1 FBXW5 C8G LCN10 NALT1 CCDC183 ABCA2 SNHG7 MIR6722 MAN1B1 FUT7 ENTPD2 SNAPC4 DNLZ LRRC26 PHPT1 SAPCD2 RABL6 SEC16A TMEM141 LCNL1 SNORA17A SDCCAG3 MIR4479 CLIC3 NPDC1 INPP5E TMEM210 MAN1B1-AS1 FAM69B C9orf172 CCDC183-AS1 C9orf163 EDF1 LOC100128593 DPP7 C9orf139 HSPC324 TRAF2 LINC01451 MAMDC4 LCN12 CARD9 PMPCA C9orf142 NOTCH1 MIR4673 PRR31 EGFL7 MIR126 LCN8 AGPAT2 MIR4674 LCN6 MIR3621
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	MIR4479 SNORA17B LCN15 MIR4292 INPP5E FAM69B C9orf172 CCDC183-AS1 C9orf163 LCN10 EDF1 NALT1 LOC100128593 CCDC183 SNHG7 HSPC324 MIR6722 TRAF2 LINC01451 MAMDC4 CARD9 SNAPC4 PMPCA DNLZ NOTCH1 MIR4673 PHPT1 RABL6 EGFL7 SEC16A TMEM141 MIR126 GPSM1 LCN8 AGPAT2 SNORA17A MIR4674 LCN6 SDCCAG3
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	LOC107987142 CAMSAP1 CARD9 SNAPC4 PMPCA INPP5E DNLZ NOTCH1 LOC101928722 C9orf163 SEC16A ESP33 CCDC187 GPSM1 UBAC1 QSOX2 C9orf69 LOC105376323 DKFZP434A062 LHX3 NACC2 SDCCAG3
esv3622008	Chr.9:136429712 - 136457993 on Build GRCh38	Gain	SEC16A INPP5E
nsv615963	Chr.9:136386314 - 136474501 on Build GRCh38	Loss	SEC16A SNAPC4 PMPCA INPP5E SDCCAG3
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	CAMSAP1 INPP5E C9orf163 NALT1 ESP33 CCDC187 UBAC1 C9orf69 KCNT1 DKFZP434A062 NACC2 LOC107987142 CARD9 SNAPC4 PMPCA DNLZ NOTCH1 LOC101928722 MIR4673 SEC16A GPSM1 QSOX2 LOC105376323 MIR4674 LHX3 SDCCAG3

More Information

• Set Membership: Intragenic, 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