AutismKB 2.0

Annotation Detail for INPP5K


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Basic Information Top
Gene Symbol:INPP5K ( PPS,SKIP )
Gene Full Name: inositol polyphosphate-5-phosphatase K
Band: 17p13.3
Quick LinksEntrez ID:51763; OMIM: 607875; Uniprot ID:INP5K_HUMAN; ENSEMBL ID: ENSG00000132376; HGNC ID: 33882
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6364D-myo-inositol (1,3,4)-trisphosphate biosynthesis
PWY-6358superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
PWY-6363D-myo-inositol (1,4,5)-trisphosphate degradation
PWY-63621D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
PWY-63683-phosphoinositide degradation
Pathway IDPathway Name
hsa00562Inositol phosphate metabolism
hsa04910Insulin signaling pathway
hsa01100Metabolic pathways
hsa04070Phosphatidylinositol signaling system
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004958 Estradiol Estradiol results in decreased expression of INPP5K mRNAdecreases expression 14664709
C056516 exemestane exemestane results in increased expression of INPP5K mRNAincreases expression 17254854
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of INPP5K mRNAaffects binding|decreases expression|increases activity 19710929
D012643 Selenium Selenium results in increased expression of INPP5K mRNAincreases expression 19244175
D014810 Vitamin E Vitamin E results in increased expression of INPP5K mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Estradiol 2.1611473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001943 Breast Neoplasms Estradiol 2.7612948864 18497071 17289903 16675129 14630087 17018787 19861407 17261762
MESH:D001943 Breast Neoplasms exemestane 2.7616002280 17892469 17952589
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0016111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.4116050911
MESH:D006528 Carcinoma, Hepatocellular Estradiol 1.7916924424
MESH:D002471 Cell Transformation, Neoplastic Estradiol 3.0018566989
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D003092 Colitis Selenium 4.2617936198
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9219769572
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003928 Diabetic Nephropathies Estradiol 3.7419279558
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2515131321
MESH:C538011 Eales disease Vitamin E 5.329068938
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D016889 Endometrial Neoplasms Estradiol 3.2019148513 11473722 18566989
MESH:D005234 Fatty Liver pirinixic acid 3.1420131406 19236843
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1516080930
MESH:D006333 Heart Failure pirinixic acid 7.6220558911
MESH:D006333 Heart Failure Selenium 7.6217162251
MESH:D006529 Hepatomegaly pirinixic acid 3.4816221962 18467677 19772884 19176532
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8016490937 16863852
MESH:D006558 Herpes Genitalis Estradiol 5.6415709030
MESH:D019584 Hot Flashes Estradiol 12.1817088409
MESH:D019584 Hot Flashes Vitamin E 12.1814716179
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007251 Influenza, Human Selenium 13.0916624496
MESH:D007251 Influenza, Human Vitamin E 13.0916624496
MESH:D007333 Insulin Resistance Estradiol 7.9216393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 7.9216306350
MESH:D007674 Kidney Diseases Estradiol 6.7215618244
MESH:D007674 Kidney Diseases Vitamin E 6.7212488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.2616518626
MESH:D007680 Kidney Neoplasms Estradiol 3.2815610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.6414659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.6415474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.6416169303
MESH:D008113 Liver Neoplasms pirinixic acid 1.9215890375 20007298 16377806
MESH:D008171 Lung Diseases Vitamin E 3.4016863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.7411408345 11807958 17203775 16891317
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.7415318939
MESH:D020149 Manganese Poisoning Estradiol 5.0919453300
MESH:D008654 Mesothelioma Selenium 2.9015107826
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 9.1716810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 9.1716411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009389 Neovascularization, Pathologic Estradiol 4.2717289903
MESH:D009421 Nervous System Malformations Estradiol 4.0911399458 16427766
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010051 Ovarian Neoplasms Estradiol 2.3019401270
MESH:D010954 Plasmacytoma Selenium 5.5015087411
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.2620887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.1516740699
MESH:D011471 Prostatic Neoplasms Vitamin E 3.1515084515
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012871 Skin Diseases Vitamin E 2.5118709164
MESH:D020521 Stroke Vitamin E 3.8116517955
MESH:D013978 Tibial Fractures Estradiol 5.3019048282
Pathway ID Pathway Name
KEGG:00562 Inositol phosphate metabolism
KEGG:04910 Insulin signaling pathway
KEGG:01100 Metabolic pathways
KEGG:04070 Phosphatidylinositol signaling system
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018