Hs01937319_cn

• Gene Symbol: INPP5E
• Assay Reference Genome Location: Chr.9:136431968 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 7

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
	U45974.1			AAB03215.1

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

More Information

Additional Information:

For this assay, SNP(s) [rs78828148] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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