Hs00734702_cn

• Gene Symbol: INPP5E
• Assay Reference Genome Location: Chr.9:136431059 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 Exon 8

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INPP5E	NM_001318502.1	8	2008	NP_001305431.1
	NM_019892.5	8	2011	NP_063945.2
	XM_017014926.1	8	2050	XP_016870415.1
	AF187891.1	8	1712	AAF81404.1
	AL832846.1	8	2009
	BC028032.1	8	1993	AAH28032.1
	U45974.1	2	225	AAB03215.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1075693	Chr.9:136431047 - 136431848 on Build GRCh38	Deletion	INPP5E
nsv831760	Chr.9:136366430 - 136480358 on Build GRCh38	Loss	SEC16A SNAPC4 CARD9 SDCCAG3 INPP5E PMPCA
nsv509333	Chr.9:136346749 - 136440541 on Build GRCh38	Insertion	SEC16A DNLZ GPSM1 SNAPC4 CARD9 SDCCAG3 INPP5E PMPCA
nsv6766	Chr.9:136414215 - 136448876 on Build GRCh38	Insertion	SEC16A INPP5E PMPCA
esv2426973	Chr.9:136430956 - 136432876 on Build GRCh38	Deletion	INPP5E
dgv4172n106	Chr.9:136431048 - 136431948 on Build GRCh38	Deletion	INPP5E
esv2759720	Chr.9:136356377 - 136932033 on Build GRCh38	Loss	NOTCH1 TRAF2 DNLZ LCN6 SNORA17A MAMDC4 AGPAT2 LCN15 EDF1 NALT1 MIR4479 MIR126 LCN8 LINC01451 INPP5E LCN10 SNORA17B FAM69B SEC16A MIR4674 CCDC183 C9orf172 MIR4673 CARD9 MIR6722 RABL6 SDCCAG3 SNHG7 EGFL7 PMPCA C9orf163 MIR4292 TMEM141 PHPT1 GPSM1 SNAPC4 HSPC324 LOC100128593 CCDC183-AS1
nsv825173	Chr.9:135892081 - 136495763 on Build GRCh38	Gain	LOC105376323 ESP33 SEC16A NOTCH1 DNLZ CAMSAP1 CCDC187 CARD9 QSOX2 LOC101928722 UBAC1 SDCCAG3 LHX3 C9orf69 PMPCA C9orf163 GPSM1 SNAPC4 LOC107987142 INPP5E DKFZP434A062 NACC2
esv3622008	Chr.9:136429712 - 136457993 on Build GRCh38	Gain	SEC16A INPP5E
esv28108	Chr.9:136431030 - 136431975 on Build GRCh38	Gain+Loss	INPP5E
nsv615963	Chr.9:136386314 - 136474501 on Build GRCh38	Loss	SEC16A SNAPC4 SDCCAG3 INPP5E PMPCA
nsv469918	Chr.9:136359865 - 137173890 on Build GRCh38	Loss	DNLZ LCN6 ABCA2 SNORA17A MAMDC4 GRIN1 TMEM210 EDF1 MIR126 DPP7 MIR3621 LCN10 SNORA17B FAM69B C9orf172 NPDC1 CARD9 SDCCAG3 EGFL7 C8G CLIC3 LCN12 SNAPC4 HSPC324 C9orf139 ENTPD2 SAPCD2 MAN1B1-AS1 CCDC183-AS1 FBXW5 NOTCH1 TRAF2 PRR31 LOC101930307 PTGDS AGPAT2 LCN15 LRRC26 NALT1 MIR4479 LCN8 LINC01451 INPP5E SEC16A MIR4674 CCDC183 FUT7 MIR4673 MIR6722 RABL6 SNHG7 C9orf142 PMPCA C9orf163 MIR4292 TMEM141 LCNL1 PHPT1 LOC100128593 UAP1L1 MAN1B1
nsv951202	Chr.9:135770355 - 136558248 on Build GRCh38	Deletion	NOTCH1 DNLZ CCDC187 LOC101928722 UBAC1 LHX3 LOC107987142 NALT1 INPP5E LOC105376323 ESP33 SEC16A MIR4674 MIR4673 CAMSAP1 CARD9 QSOX2 SDCCAG3 KCNT1 C9orf69 PMPCA C9orf163 GPSM1 SNAPC4 DKFZP434A062 NACC2

More Information

• Set Membership: Intragenic, 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