AutismKB 2.0

Annotation Detail for INPP5E


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Basic Information Top
Gene Symbol:INPP5E ( CORS1,JBTS1,MGC117201,MORMS,PPI5PIV )
Gene Full Name: inositol polyphosphate-5-phosphatase, 72 kDa
Band: 9q34.3
Quick LinksEntrez ID:56623; OMIM: 613037; Uniprot ID:INP5E_HUMAN; ENSEMBL ID: ENSG00000148384; HGNC ID: 21474
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-63683-phosphoinositide degradation
Pathway IDPathway Name
hsa00562Inositol phosphate metabolism
hsa01100Metabolic pathways
hsa04070Phosphatidylinositol signaling system
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Related Diseases/Disorders Top
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Desease Name
Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of INPP5E mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of INPP5E mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of INPP5E mRNAaffects expression 17562736
D019259 Lamivudine [Zidovudine co-treated with Lamivudine] results in increased expression of INPP5E mRNAaffects cotreatment|increases expression 18313992
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of INPP5E mRNA]affects reaction|decreases expression 15016801
D013467 Sulindac Sulindac results in increased expression of INPP5E mRNAincreases expression 11906190
D014303 Trinitrotoluene Trinitrotoluene affects the expression of INPP5E mRNAaffects expression 21346803
D015215 Zidovudine [Zidovudine co-treated with Lamivudine] results in increased expression of INPP5E mRNAaffects cotreatment|increases expression 18313992
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Sulindac 5.8714745880
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 4.527525203
MESH:D000163 Acquired Immunodeficiency Syndrome Zidovudine 5.139612607
MESH:D058186 Acute Kidney Injury Sulindac 4.567897758
MESH:D000230 Adenocarcinoma Fluorouracil 4.9917638652
MESH:D000230 Adenocarcinoma Sulindac 4.9911910360
MESH:D000236 Adenoma Sulindac 3.9110223192
MESH:D011125 Adenomatous Polyposis Coli Sulindac 4.8317611924 11535846 19003578 11874996 16460482 15623613 12394442
MESH:D000740 Anemia Fluorouracil 3.9416511603 17963324 15504547
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001913 Bowen's Disease Sulindac 5.7311207687
MESH:D001943 Breast Neoplasms Fluorouracil 2.5716595493 19217205 16110121 15136595 18357371 18608205 16557594
MESH:D001943 Breast Neoplasms Sulindac 2.5716642371
MESH:D002276 Carcinoid Tumor Fluorouracil 5.0416051944
MESH:D002277 Carcinoma Fluorouracil 3.7617121937
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.8216705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.8216705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.823084413
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.8217045692 17088986 16332177 17971768 16799960 18930000
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1118695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5518986760 16757204 16280240 17066447
MESH:D002386 Cataract Acetaminophen 7.9410977129
MESH:D002386 Cataract Trinitrotoluene 7.9415817613 14694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.936135515
MESH:D002925 Ciliary Motility Disorders marker/mechanism 19668216 19668215
MESH:D003110 Colonic Neoplasms Fluorouracil 4.2117018589 17725105 17016597 15001691 16340194 16510598 17287894 17169374 17172411 18772588
MESH:D003110 Colonic Neoplasms Sulindac 4.2112902858 12458338
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.9017255274 20501625 17094418 17454858 18949393 16303861 18288408 17401013 16391804 18383874 18448328 18802399 15289873 18509181 17594712 16331619 14970324 15148649 17016601 17695437 16282729 16524972
MESH:D015179 Colorectal Neoplasms Sulindac 2.9010666051 11076880 11197048 18059344
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.6115095906
MESH:D003490 Cyanosis 2,4-dinitrotoluene 20.6918551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 20.6918551238
MESH:D003490 Cyanosis Trinitrotoluene 20.6918551238
MESH:D007644 Darier Disease Fluorouracil 5.1316733453
MESH:D003930 Diabetic Retinopathy Sulindac 5.4617621415 12861449
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.5221346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.5218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.5219370779 16177239 16485898 14986274 11529661 16781746 11743745 14725611 10774834 17906064 11739529 15968718 19923254 19085960 17562736 16109766 16393943 12705907 12594235 11461765 12540782 18071297 10663392 12958197 19164858 16081117 19420014 19416960 12392966 16227642 14550746 11834606 2444490 11287661 12153990 19739265 18713872 10915739 15619225 17522070 11421492
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 9.5221346803 18551238
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Lamivudine 9.3815040536
MESH:D004362 Drug Toxicity Zidovudine 9.3815040536
MESH:D004715 Endometriosis Sulindac 4.7015652904
MESH:D004938 Esophageal Neoplasms Fluorouracil 5.0716337965 17638652 15173087 16785472 16481741
MESH:D004938 Esophageal Neoplasms Sulindac 5.0712235107
MESH:D015785 Eye Diseases, Hereditary marker/mechanism 19668215
MESH:D005234 Fatty Liver Zidovudine 4.1518299183
MESH:D018221 Fibromatosis, Abdominal Sulindac 5.8214745880
MESH:D018222 Fibromatosis, Aggressive Sulindac 5.4719069698
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005764 Gastroesophageal Reflux Sulindac 5.2911910360
MESH:D005910 Glioma Fluorouracil 2.9516145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5418337622 15162350 15102660
MESH:D006402 Hematologic Diseases Zidovudine 4.9712579204
MESH:D006509 Hepatitis B Lamivudine 5.3417703166
MESH:D019694 Hepatitis B, Chronic Lamivudine 5.3415309715 12044531 15274664 15631357 16476009
MESH:D006529 Hepatomegaly Trinitrotoluene 4.5415817613
MESH:D015658 HIV Infections Lamivudine 7.4411141242 20032539 17530837 9296927
MESH:D015658 HIV Infections Zidovudine 7.4420032539 11363243 11698656 11141242 17358032
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D007248 Infertility, Male Trinitrotoluene 3.8312150543
MESH:D007249 Inflammation Sulindac 3.413291741
MESH:D007414 Intestinal Neoplasms Sulindac 4.8612584176 12628509 12351151 10223192 12663524 10213222
MESH:D007417 Intestinal Polyps Sulindac 5.2511245490 12394442
OMIM:213300 JOUBERT SYNDROME marker/mechanism 19668216
MESH:D007674 Kidney Diseases Acetaminophen 2.3212587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 19.5516705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 19.5516705839
MESH:D007680 Kidney Neoplasms Fluorouracil 19.5516985049
MESH:D007680 Kidney Neoplasms Zidovudine 19.5512579204
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Zidovudine 4.6520370541
MESH:D008105 Liver Cirrhosis, Biliary Sulindac 4.3612468960
MESH:D008107 Liver Diseases Acetaminophen 4.4216611625 12969438 12587719 19014921 11587558 19460945 16610002 19784758
MESH:D008107 Liver Diseases Sulindac 4.4214986274 16867024
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4616871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.917678174
MESH:D008113 Liver Neoplasms Fluorouracil 4.9115113037 17045692 16603448 18383874
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.682876786 2876784 6135515
MESH:D008175 Lung Neoplasms Fluorouracil 3.8215246190
MESH:D008175 Lung Neoplasms Sulindac 3.8215713900 19359593
MESH:D008175 Lung Neoplasms Zidovudine 3.8218800350
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1315086387
MESH:D008545 Melanoma Sulindac 2.8516642371
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D008607 Mental Retardation marker/mechanism 19668215
OMIM:610156 MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS marker/mechanism
MESH:D048629 Micronuclei, Chromosome-Defective Zidovudine 6.2117358032
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8116757204 18986760
MESH:D009336 Necrosis 2,4-dinitrotoluene 19.8718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 19.877678174 18551238
MESH:D009336 Necrosis Trinitrotoluene 19.8718551238
MESH:D009369 Neoplasms Fluorouracil 2.7118600527 16928823 18239605
MESH:D019636 Neurodegenerative Diseases Acetaminophen 9.2118514411
MESH:D019636 Neurodegenerative Diseases Sulindac 9.2116850258 17266991
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5916436463
MESH:D009765 Obesity marker/mechanism 19668215
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 16.5612819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 16.5616049721
MESH:D009784 Occupational Diseases Trinitrotoluene 16.5612819281 14694615 17852074
MESH:D010146 Pain Acetaminophen 7.5916870215
MESH:D010146 Pain Sulindac 7.593291741
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.9116929163 16500647 19003803 15113037
MESH:D010190 Pancreatic Neoplasms Sulindac 5.9116820089 11504793
MESH:D010409 Penile Diseases marker/mechanism 19668215
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3718626508 19082440
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2315538739 18722050 18286688 16160472
MESH:D012206 Rhabdomyolysis Lamivudine 5.879296927
MESH:D012640 Seizures 2,4-dinitrotoluene 10.8518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.8518551238
MESH:D012640 Seizures Trinitrotoluene 10.8518551238
MESH:D013163 Splenomegaly Trinitrotoluene 5.5115817613
MESH:D013274 Stomach Neoplasms Fluorouracil 2.8118396642 19084572 17522103 15786421 16424979 18567086 17498489 19015929 17172411 16951190
MESH:D013274 Stomach Neoplasms Zidovudine 2.8117696246
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2216280240
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2816049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2816049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.1410091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.1410091137
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1116803524
MESH:D014594 Uterine Neoplasms Sulindac 4.8818645019
MESH:D014625 Vaginal Neoplasms Zidovudine 5.0612579204
Pathway ID Pathway Name
KEGG:00562 Inositol phosphate metabolism
KEGG:01100 Metabolic pathways
KEGG:04070 Phosphatidylinositol signaling system
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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  (e.g. CHD8)

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


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