AutismKB 2.0

Annotation Detail for ITCH


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Basic Information Top
Gene Symbol:ITCH ( AIF4,AIP4,NAPP1,dJ468O1.1 )
Gene Full Name: itchy E3 ubiquitin protein ligase homolog (mouse)
Band: 20q11.22
Quick LinksEntrez ID:83737; OMIM: 606409; Uniprot ID:ITCH_HUMAN; ENSEMBL ID: ENSG00000078747; HGNC ID: 13890
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04144Endocytosis
hsa04120Ubiquitin mediated proteolysis
No data
Pathway IDPathway Name
200039Calcineurin-regulated NFAT-dependent transcription in lymphocytes
200009ErbB4 signaling events
200013Notch signaling pathway
200083CXCR4-mediated signaling events
200195TGF-beta receptor signaling
Pathway IDPathway Name
P00060Ubiquitin proteasome pathway
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Autoimmune disease, syndromic multisystem
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of ITCH mRNAdecreases expression 20406850
D000082 Acetaminophen Acetaminophen affects the expression of ITCH mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of ITCH mRNAdecreases expression 19150397
20018196
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of ITCH mRNAincreases expression 15336504
D016572 Cyclosporine Cyclosporine results in increased expression of ITCH mRNAincreases expression 20106945
D018038 Sodium Selenite Sodium Selenite results in decreased expression of ITCH mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
OMIM:613385 AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM marker/mechanism
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.376135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.3720889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.3712371664
MESH:D002779 Cholestasis Cyclosporine 3.1419486331
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1715894690
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0616285004
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.6715968718 18713872 10915739 19923254 18071297 12392966 17522070 2444490 16109766 12540782 16781746 10663392 17906064 14550746 16227642 15619225 11834606 10774834 12958197 12153990 19416960 19420014 14725611 11743745 19739265 11739529 16081117 11529661 14986274 16393943 19085960 19164858 11461765 19370779 11421492 12594235 11287661 17562736 12705907 16485898 16177239
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.6715131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005234 Fatty Liver Cyclosporine 3.1819224547
MESH:D005355 Fibrosis Cyclosporine 3.5612639820 12168785
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006973 Hypertension Cyclosporine 2.1910903974
MESH:D007333 Insulin Resistance Sodium Selenite 3.4714714311
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.3412587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.348314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.1816705839
MESH:D007680 Kidney Neoplasms Cyclosporine 8.1812371664
MESH:D008107 Liver Diseases Acetaminophen 1.6916610002 12969438 12587719 19784758 11587558 19460945 16611625 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.247678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.722876784 6135515 2876786
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4114737004
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.3218551238 7678174
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7418551238
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.818532709
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
Pathway ID Pathway Name
KEGG:04144 Endocytosis
REACT:6900 Signaling in Immune system
KEGG:04120 Ubiquitin mediated proteolysis
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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