AutismKB 2.0

Annotation Detail for ATIC


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATIC ( AICAR,AICARFT,FLJ93545,IMPCHASE,PURH )
Gene Full Name: 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
Band: 2q35
Quick LinksEntrez ID:471; OMIM: 601731; Uniprot ID:PUR9_HUMAN; ENSEMBL ID: ENSG00000138363; HGNC ID: 794
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-841purine nucleotides de novo biosynthesis II
PWY-6124inosine-5'-phosphate biosynthesis II
Pathway IDPathway Name
hsa00670One carbon pool by folate
hsa00230Purine metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of nucleotides
No data
Pathway IDPathway Name
P02738De novo purine biosynthesis
Pathway IDPathway Name
500226Purine ribonucleoside monophosphate biosynthesis
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1781Rheumatoid arthritis
Desease Name
rheumatoid arthritis
PHARMACOGENOMIC
methotrexate toxicity
IMMUNE
methotrexate efficacy
No data
Desease Name
AICA-ribosiduria due to ATIC deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ATIC mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ATIC mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of ATIC mRNAaffects expression 21346803
C000188 alachlor alachlor results in increased expression of ATIC mRNAincreases expression 12419858
D000643 Ammonium Chloride Ammonium Chloride affects the expression of ATIC mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of ATIC mRNAincreases expression 17484886
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ATIC mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of ATIC mRNAaffects cotreatment|affects expression 17602206
D008727 Methotrexate ATIC gene SNP affects the susceptibility to Methotrexateaffects response to substance 17410198
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of ATIC mRNAincreases expression 17616710
C010327 salinomycin salinomycin results in decreased expression of ATIC mRNAdecreases expression 19682730
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ATIC proteindecreases expression 19201780
D014635 Valproic Acid Valproic Acid results in decreased expression of ATIC mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 21.437525203
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 21.4312039119
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 21.4315322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 21.438875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0119490988
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D000236 Adenoma Diethylnitrosamine 2.896695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.4517620307 19052882 19061943 17162532 16434500 18056438
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.4516835633
MESH:D000382 Agricultural Workers' Diseases alachlor 4.7714769641 11874814
OMIM:608688 AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY marker/mechanism
MESH:D000550 Amblyopia Valproic Acid 5.3717688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.6417497229
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1117286800
MESH:D001321 Autistic Disorder Valproic Acid 2.0020603192 19232924 15238991 18396377 17507914 18558336 18316065 18177632 17688650 18775368 17157402 19460635 18985861 16609825 18940202
MESH:D001714 Bipolar Disorder Valproic Acid 3.1120046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.1915746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.198888407
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.0417474063
MESH:D001943 Breast Neoplasms Methotrexate 2.0416978400
MESH:D001943 Breast Neoplasms salinomycin 2.0419682730
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0420435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8810355542 15673190 16124888 16227642 16097048 15700767 18705752 16192424 16011737 15721981 16050911 3786805
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.6716705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.6716705839
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.6718788625
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.6717162532 20727157 19519916 16935385 20935162 18210153 20101231 17761372 18494052 19822196 16830150 3084413 17428255 17173139 16540662 18393292 20512989 20524982 16807293 20007298 18978308 19052882 18785209 16569478 3581430 17978847 19335982 20214788 19107877 16328049 19394651 21159647 19383236 19701751 20084675 17138121 16698587 18506893 10737359 16288022 16681979 19539802 19418558 16779866 10672840 11831363 19208518 19171122 16878318 16502159 20432363 18971187 17055752 18665156 18788625 20514400 18056438 18691550 19919837
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118670907 16120746 18850075
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.6714694615
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.886135515
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 6.882727394 7505956 17174075 21159647
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7320734317
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.5719052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.5716835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1315668235 15340226 12621046 16354765 8697196
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 9.4315095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Methotrexate 3.9212039119 9562676
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.9215322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.9217688650 8888407 16575769
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.2518551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.2518551238
MESH:D003550 Cystic Fibrosis Methotrexate 4.3119747007
MESH:D017449 Dermatitis, Allergic Contact alachlor 4.298428444
MESH:D003882 Dermatomyositis Methotrexate 5.2220191521
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.2820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.2817107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 19.0721346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 19.0718551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 19.0721346803
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 19.073732212 17522070 15968718 16177239 9327722 7440962 19336974 4309450 11566570 16227642 10092053 19085960 7179309 2869522 7120509 3786805 15998439 6884620 10915739 15027814 6623471 21278145
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 19.0719107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 19.0720420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 19.071733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004421 Dystonia Valproic Acid 4.141851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4611000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0416714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.263659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.0516628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.9720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.666254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.407750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.183659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2516302075
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.7915547733 15150132 16805852 15547721 15878914 15623463 15264214 16510608 16704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 13.6515959796 17595544 16239168 19224547 12631006 12795759 16045604 61145
MESH:D005234 Fatty Liver Diethylnitrosamine 13.6521071580 20387270
MESH:D005234 Fatty Liver Valproic Acid 13.6514986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005315 Fetal Diseases Valproic Acid 5.0216575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.2318558336 8888407
MESH:D005355 Fibrosis Carbon Tetrachloride 8.9518705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.9520067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006086 Graft vs Host Disease Methotrexate 5.2516518429
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3710048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.6919900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0012621046 15340226 16120746
MESH:D006849 Hydrocephalus Valproic Acid 4.9817688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1818606429 16354765 8697196 16959395 15340226
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6516899240
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9318670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1915338365
MESH:D007248 Infertility, Male alachlor 4.1916466525 12948887 17049205
MESH:D007249 Inflammation Diethylnitrosamine 5.0318785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0312878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.5916705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.5916705839
MESH:D007805 Language Development Disorders Methotrexate 5.199562676
MESH:D007938 Leukemia alachlor 4.0514769641
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1616294345 17596541
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 11.3816239168 11903743 17174718 17157831 21278145 16221502 17334410 16943688 11408273
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 11.3819638242 18522880 18407596 20032147 18665156
MESH:D008103 Liver Cirrhosis Methotrexate 11.3814986274
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3117714472 12632512 18420326 17557913 15370692 15338365 16011737 12546737 12609069 15876570 18277467 17640975 18376398 13678700 16638106 17708605 14512876 12445421 17869086 15818738 15931870 18395914 18251166 12632514 14716833 15730626 12649538 18412020 14748882 18187930 15925388 15673190 14620537 12898905 18263696 17631135 16097048 16192424 16033810 17525996 17823541 18210741 17922224 12667390 18395095 18156304 17481882 17766677 17976157 17805973 18472094 18418968 18006644 16248980 17900296 17761835 16136751 18205269 18054572 17944888 12666154 18317297 12389079 10355542 17698563 14724832 14716496 16027843 15052691 15650968 18472332 12958196 12445418 15893842 16015684 15996030 15959796 20821823 12741479 11481614 15362042 18279442 18339082 12586293 15123356 17721639 18481824 18166357 17565644 16116963 18429990 18705752 15057751
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3112878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.1316246199 16964402 15830285 15720792 17285989
MESH:D008107 Liver Diseases Diethylnitrosamine 4.1317034775
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.7714706259 16899240
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 14.567678174
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 14.5619294768
MESH:D008113 Liver Neoplasms Clofibric Acid 14.5617602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 14.5621071580 20405173 19642983 15885732 19090486 20583210 19551842 19256749 20118626 19255062 15175105 19833225 18648771 9163691 2862719 19996281 20501860 21167192 19254457 20434301 2422723 21047994 18978307 19850985 19073162 20492335 19499222 10737359 20137499 19427195 12771043 18644402 16942905 18754104 12112319 18977376 19690152 19426721 19638242 20101389 19294768 21278145 19812893 20452335
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.5616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.526135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 14.5215583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 14.5218253720 18282651 18544905 18093689 19126423 18308698 18164116 19519916 18775883 16842330 18079962 17854601 19539802 3124819 19009564 17942915 2563599 21159647 17174075 19004024 16267830 9362446
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.5212151625
MESH:D017563 Lung Diseases, Interstitial Methotrexate 11.9218516814
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 11.9217228818
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.286695378 21163286 20512841 20970405
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2819555203 11884234
MESH:D008223 Lymphoma Methotrexate 4.0117352296
MESH:D008325 Mammary Neoplasms, Experimental salinomycin 3.8119682730
MESH:D008881 Migraine Disorders Valproic Acid 3.2518765137 18803445
MESH:D052016 Mucositis Methotrexate 5.4017488658
MESH:D009101 Multiple Myeloma alachlor 4.3414769641
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.118888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2017596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.7418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.747678174 18551238
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.599029167 3581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.188888407 16359493
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.4120387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2520387270
MESH:D009669 Nose Neoplasms alachlor 4.9414563481 11127290 16178123 15580706 16698726
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 15.6116049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 15.6116049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 15.6114694615
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4516540662
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.622563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.8611118676 11399792 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.8620603192
MESH:D019310 Pseudolymphoma Valproic Acid 4.6712752131 11422049
MESH:D011565 Psoriasis Methotrexate 3.4617410198
MESH:D051437 Renal Insufficiency Methotrexate 4.8217352296
MESH:D012135 Respiratory Sounds alachlor 5.0511874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.2619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures 2,4-dinitrotoluene 10.1418551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.1418551238
MESH:D012640 Seizures Valproic Acid 10.1414763951 16876388 1511512 17978042 11738929 11044598 15475178 3137016
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0816192470
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8419490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6712833885
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.6318456281
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.6312958204 17575124
MESH:D013576 Syndactyly Methotrexate 5.139562676
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms alachlor 7.848812207
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.847505956
MESH:D014178 Translocation, Genetic Valproic Acid 5.3717262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.643119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.1116049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1116049721
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.758888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.3910091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.3910091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:1698 Metabolism of nucleotides
KEGG:00670 One carbon pool by folate
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25094
    • Releated gene ID Related gene Name
    PA25094ATIC
    Releated disease ID Related disease Name
    PA443434Arthritis, Rheumatoid
    PA445451Psoriasis
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA449789glycine
    PA10090l-glutamine
    PA449692folic acid
    PA450428methotrexate
    PA451547sulfasalazine
    PA448049adenosine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00116 - Tetrahydrofolic acid Dietary supplement;Micronutrient
    DB00642 antagonist Pemetrexed Antineoplastic Agents;Antimetabolites;Enzyme Inhibitors;Folic Acid Antagonists;Antimetabolites, Antineoplastic
    DB01700 - Aicar Hypoglycemic Agents
    DB01972 - Guanosine-5'-Monophosphate
    DB02309 - 5--Monophosphate-9-Beta-D-Ribofuranosyl Xanthine
    DB03442 - 2-[5-Hydroxy-3-Methyl-1-(2-Methyl-4-Sulfo-Phenyl)-1h-Pyrazol-4-Ylazo]-4-Sulfo-Benzoic Acid
    DB04057 - Beta-Dadf, Msa, Multisubstrate Adduct Inhibitor
    No data
    No data
    No data

    Simple Query:


      (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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