Hs02549112_cn

• Gene Symbol: INPP5K
• Assay Reference Genome Location: Chr.17:1494849 on build GRCh38
• Cytoband: 17p13.3

Target Gene Details

• Entrez Gene ID: 51763
• Gene Name: inositol polyphosphate-5-phosphatase K
• Gene Aliases: PPS, SKIP
• Location: Chr.17:1494575-1516888 on Build GRCh38
• Assay Gene Location: Within Exon 14

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
INPP5K	NM_001135642.1	14	3100	NP_001129114.1
	NM_016532.3	12	2710	NP_057616.2
	NM_130766.2	13	2941	NP_570122.1
	XM_005256683.2	12	2550	XP_005256740.1
	XM_005256685.1	11	2331	XP_005256742.1
	XM_005256686.1	12	2679	XP_005256743.1
	XM_011523934.1	14	2723	XP_011522236.1
	XM_011523936.2	12	2560	XP_011522238.1
	XM_017024755.1	13	2781	XP_016880244.1
	XM_017024756.1	14	2858	XP_016880245.1
	XM_017024757.1	13	2756	XP_016880246.1
	XM_017024758.1	12	2490	XP_016880247.1
	XM_017024759.1	11	2341	XP_016880248.1
	AB036829.1	12	2495	BAA92340.1
	AB036830.1	13	2724	BAA92341.1
	BM510617.1	1	287
	U45973.1	9	1964	AAB03214.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833334	Chr.17:1411327 - 1582381 on Build GRCh38	Loss	PITPNA-AS1 INPP5K CRK MYO1C SLC43A2 PITPNA
esv3582474	Chr.17:1494346 - 1505407 on Build GRCh38	Loss	INPP5K
nsv952098	Chr.17:1464507 - 1515106 on Build GRCh38	Deletion	INPP5K MYO1C
nsv1057782	Chr.17:1351585 - 1512616 on Build GRCh38	Gain	INPP5K CRK MYO1C YWHAE
dgv877e212	Chr.17:1494279 - 1500654 on Build GRCh38	Loss	INPP5K

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

phosphatase

Gene Ontology Categories:

Process(es)

in utero embryonic development
negative regulation of protein phosphorylation
regulation of glycogen biosynthetic process
negative regulation of protein kinase activity
phosphatidylinositol biosynthetic process
G-protein coupled receptor signaling pathway
negative regulation of peptidyl-threonine phosphorylation
negative regulation of glucose transport
dephosphorylation
actin cytoskeleton organization
cellular response to insulin stimulus
cellular response to hormone stimulus
negative regulation of peptidyl-serine phosphorylation
negative regulation of dephosphorylation
positive regulation of urine volume
glucose homeostasis
negative regulation of MAP kinase activity
negative regulation by host of viral transcription
negative regulation of glycogen biosynthetic process
negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
negative regulation of insulin receptor signaling pathway
inositol phosphate dephosphorylation
phosphatidylinositol dephosphorylation
negative regulation of stress fiber assembly
negative regulation of protein kinase B signaling
negative regulation of calcium ion transport
cellular response to cAMP
cellular response to tumor necrosis factor
cellular response to epidermal growth factor stimulus
protein targeting to plasma membrane
negative regulation of protein targeting to membrane
ruffle assembly
negative regulation of glycogen (starch) synthase activity
positive regulation of renal water transport

Function(s)

phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity
inositol-polyphosphate 5-phosphatase activity
vasopressin receptor activity
protein binding
inositol bisphosphate phosphatase activity
phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity
phosphatidylinositol trisphosphate phosphatase activity
phosphatidylinositol phosphate 5-phosphatase activity
lipid phosphatase activity
inositol trisphosphate phosphatase activity
inositol-1,4,5-trisphosphate 5-phosphatase activity
inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity