AutismKB 2.0

Annotation Detail for ITSN1


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Basic Information Top
Gene Symbol:ITSN1 ( ITSN,MGC134948,MGC134949,SH3D1A,SH3P17 )
Gene Full Name: intersectin 1 (SH3 domain protein)
Band: 21q22.11
Quick LinksEntrez ID:6453; OMIM: 602442; Uniprot ID:ITSN1_HUMAN; ENSEMBL ID: ENSG00000205726; HGNC ID: 6183
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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No data
Pathway IDPathway Name
Signaling by GPCR
Signalling by NGF
Signaling by Rho GTPases
Pathway IDPathway Name
200146Internalization of ErbB1
200041EPHB forward signaling
200059Regulation of CDC42 activity
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1740Alzheimer's disease
1983Down syndrome
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ITSN1 mRNAaffects expression 21346803
C027576 4-hydroxy-2-nonenal 4-hydroxy-2-nonenal results in decreased expression of ITSN1 mRNAdecreases expression 12419474
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ITSN1 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ITSN1 mRNAdecreases expression 20064835
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ITSN1 mRNAdecreases expression 20713471
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 ITSN1 mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of ITSN1 mRNAdecreases expression 12419474
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of ITSN1 mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in decreased expression of ITSN1 mRNAdecreases expression 20106945
D005472 Fluorouracil ITSN1 protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of ITSN1 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid pirinixic acid results in decreased expression of ITSN1 mRNAdecreases expression 18445702
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of ITSN1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.648875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0419490988
MESH:D000138 Acidosis Ammonium Chloride 3.7118287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.2318653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4920127859 20464547
MESH:D000230 Adenocarcinoma Fluorouracil 4.4917638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.716695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.6316434500
MESH:D000550 Amblyopia Valproic Acid 5.4117688650
MESH:D000690 Amyotrophic Lateral Sclerosis 4-hydroxy-2-nonenal 4.1610965797
MESH:D000740 Anemia Fluorouracil 3.8117963324 15504547 16511603
MESH:D001008 Anxiety Disorders Valproic Acid 3.6617497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2119183758
MESH:D001321 Autistic Disorder Valproic Acid 2.0019232924 15238991 18775368 18316065 18558336 17507914 17157402 20603192 16609825 18177632 19460635 18985861 18940202 17688650 18396377
MESH:D001714 Bipolar Disorder Valproic Acid 3.1320046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2619483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.478888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.1720146248 17474063
MESH:D001943 Breast Neoplasms Fluorouracil 2.1719217205 18357371 16110121 16595493 15136595 16557594 18608205
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9216011737 16227642 10355542 15673190 16050911 15700767 16097048 15721981 16192424 3786805 18705752 16124888
MESH:D002276 Carcinoid Tumor Fluorouracil 4.8416051944
MESH:D002277 Carcinoma Fluorouracil 3.6517121937
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7016705839
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7018788625
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 4.7017045692 17971768 16332177 18930000 16799960 17088986
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0618695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7420419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.7416757204 17066447 16280240 18986760
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.586135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.5820889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.5812371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7420734317
MESH:D002779 Cholestasis Cyclosporine 8.0319486331
MESH:D002779 Cholestasis pirinixic acid 8.0319176532
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2517172411 16510598 17016597 15001691 18772588 17725105 17018589 17287894 17169374 16340194
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0014970324 18383874 17255274 15148649 17594712 16282729 17016601 16524972 18448328 18509181 17094418 17454858 15289873 20501625 18949393 16303861 18288408 17401013 16391804 18802399 17695437 16331619
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9017688650 16575769 8888407
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1618551238
MESH:D007644 Darier Disease Fluorouracil 4.9516733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4718249437
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.4418551238 21346803
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.446884620 19085960 10092053 4309450 6623471 7440962 15968718 7179309 11566570 15027814 15998439 16227642 19336974 17522070 3732212 10915739 7120509 16177239 3786805 21278145 9327722 2869522
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.441733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.171851702
MESH:D004487 Edema pirinixic acid 2.5912083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.293659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.0916628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.9918234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.687562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.447750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.223659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3820426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.3816530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.3815173087 17638652 16337965 16785472 16481741
MESH:D005234 Fatty Liver Carbon Tetrachloride 19.7012795759 15959796 12631006 16239168 61145 16045604 17595544 19224547
MESH:D005234 Fatty Liver Cyclosporine 19.7019224547
MESH:D005234 Fatty Liver pirinixic acid 19.7019236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 19.7019224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.0616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.268888407 18558336
MESH:D005355 Fibrosis Carbon Tetrachloride 9.1418705752
MESH:D005355 Fibrosis Cyclosporine 9.1412639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.378708960
MESH:D005910 Glioma Fluorouracil 2.9116145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.4615102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7120471113
MESH:D006333 Heart Failure pirinixic acid 2.6020558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5815720958
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7219900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 3.1318467677 16221962 19772884 19176532
MESH:D006849 Hydrocephalus Valproic Acid 5.0217688650
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6916899240
MESH:D006943 Hyperglycemia pirinixic acid 3.2920558911
MESH:D006973 Hypertension Cyclosporine 2.1310903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2315338365
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.7616612254
MESH:D007333 Insulin Resistance pirinixic acid 2.7016306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6215604871
MESH:D007674 Kidney Diseases Cyclosporine 2.408314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.9616705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.9612371664
MESH:D007680 Kidney Neoplasms Fluorouracil 12.9616985049
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1716294345 17596541
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8617334410 16943688 21278145 11408273 16239168 11903743 17157831 16221502 17174718
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3512586293 17869086 18263696 17698563 18395095 18395914 12741479 17557913 17721639 18054572 16027843 18251166 20821823 15925388 12609069 18472094 11481614 17922224 18279442 17714472 15650968 18412020 15893842 12389079 15959796 18006644 16033810 12632514 12958196 15818738 14724832 12649538 15996030 14716496 15057751 14748882 18705752 17805973 16116963 12898905 15052691 15370692 17944888 12445418 18317297 14512876 17976157 17708605 18429990 15338365 18277467 16136751 17565644 17481882 15123356 12546737 16097048 18210741 15362042 15673190 18339082 15931870 18205269 17823541 14716833 16015684 16011737 15730626 18481824 17761835 18166357 16638106 18420326 12666154 17900296 18376398 10355542 13678700 12632512 18472332 18187930 16248980 12445421 14620537 18156304 12667390 15876570 17640975 16192424 18418968 17631135 17766677 17525996
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3515474484
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1017285989 15720792 15830285 16246199 16964402
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3015123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.7916899240 14706259
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.667678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.6621137059 20195826
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 14.6619294768
MESH:D008113 Liver Neoplasms Fluorouracil 14.6615113037 17045692 16603448 18383874
MESH:D008113 Liver Neoplasms pirinixic acid 14.6615890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.142876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.1412014681 15583823
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4417228818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4920464547 6695378 18569708 20869020 18816296 18520028 20135361 20064080 17053015
MESH:D008175 Lung Neoplasms Fluorouracil 2.4915246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.9515086387
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9616801185
MESH:D008881 Migraine Disorders Valproic Acid 3.2718803445 18765137
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 8.8116381670
MESH:D009062 Mouth Neoplasms Fluorouracil 8.8116757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.6416239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.148888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1819151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0316411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.017678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 8.5211141357
MESH:D009369 Neoplasms Fluorouracil 8.5218600527 16928823 18239605
MESH:D009369 Neoplasms pirinixic acid 8.5217405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3819348381 18481113
MESH:D009436 Neural Tube Defects Valproic Acid 3.2016359493 8888407
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5116436463
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5316049721
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7016929163 19003803 15113037 16500647
MESH:D010787 Photosensitivity Disorders 4-hydroxy-2-nonenal 5.6811550810
MESH:D011230 Precancerous Conditions Cyclosporine 3.3212371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 3.9820603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2017292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2018626508 19082440
MESH:D019310 Pseudolymphoma Valproic Acid 4.7112752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.2616882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1118722050 18286688 16160472 15538739
MESH:D015427 Reperfusion Injury pirinixic acid 2.4319058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2919155313
MESH:D012559 Schizophrenia Valproic Acid 2.0819110320 15737665
MESH:D012640 Seizures 2,6-dinitrotoluene 6.1918551238
MESH:D012640 Seizures Valproic Acid 6.1911044598 16876388 17978042 15475178 3137016 11738929 14763951 1511512
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8710029692 19755658
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.878532709
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7112833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.442093021 20155912
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4416424979 17172411 18567086 15786421 18396642 19084572 17522103 17498489 19015929 16951190
MESH:D014062 Tongue Neoplasms Fluorouracil 4.0916280240
MESH:D014178 Translocation, Genetic Valproic Acid 5.4117262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.673119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1016049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.1017053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.788888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4710091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 3.9816803524
MESH:D014605 Uveitis Cyclosporine 4.161336536
MESH:D014985 Xerophthalmia Cyclosporine 4.6217120751
Pathway ID Pathway Name
REACT:14797 Signaling by GPCR
REACT:11044 Signaling by Rho GTPases
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base 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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