AutismKB 2.0

Annotation Detail for CYFIP2


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Basic Information Top
Gene Symbol:CYFIP2 ( PIR121 )
Gene Full Name: cytoplasmic FMR1 interacting protein 2
Band: 5q33.3
Quick LinksEntrez ID:26999; OMIM: 606323; Uniprot ID:CYFP2_HUMAN; ENSEMBL ID: ENSG00000055163; HGNC ID: 13760
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04810Regulation of actin cytoskeleton
No data
Pathway IDPathway Name
200155Stabilization and expansion of the E-cadherin adherens junction
200113ErbB1 downstream signaling
200105E-cadherin signaling in the nascent adherens junction
200190RAC1 signaling pathway
Pathway IDPathway Name
P00029Huntington disease
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of CYFIP2 mRNAincreases expression 19933214
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of CYFIP2 mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of CYFIP2 proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of CYFIP2 mRNAincreases expression 20106945
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 increased expression of CYFIP2 mRNAincreases expression 20382639
D004041 Dietary Fats Dietary Fats results in increased expression of CYFIP2 mRNAincreases expression 18042831
D005472 Fluorouracil CYFIP2 protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
D005472 Fluorouracil Fluorouracil results in increased expression of CYFIP2 mRNAincreases expression 17039268
17982676
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in increased expression of CYFIP2 mRNA]affects reaction|increases expression 15016801
D005472 Fluorouracil TP53 protein promotes the reaction [Fluorouracil results in increased expression of CYFIP2 mRNA]increases expression|increases reaction 17982676
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of CYFIP2 mRNAaffects cotreatment|increases expression 17183730
C041786 palm oil palm oil results in increased expression of CYFIP2 mRNAincreases expression 18042831
D010634 Phenobarbital Phenobarbital results in increased expression of CYFIP2 mRNAincreases expression 19482888
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CYFIP2 mRNAaffects binding|decreases expression|increases activity 19710929
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of CYFIP2 mRNAaffects binding|increases expression 16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CYFIP2 mRNAincreases expression 19933214
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of CYFIP2 mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid Valproic Acid results in increased expression of CYFIP2 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 14.916195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 14.9115322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 14.918875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0119490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.2018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4720127859 20464547
MESH:D000230 Adenocarcinoma Fluorouracil 4.4717638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.706695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.0017620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.0016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 18.0016835633
MESH:D000550 Amblyopia Valproic Acid 5.3717688650
MESH:D000740 Anemia Fluorouracil 8.9416511603 17963324 15504547
MESH:D000740 Anemia Tetrachlorodibenzodioxin 8.9411748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.6417497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001161 Arteriosclerosis Dietary Fats 3.9915238619
MESH:D001321 Autistic Disorder Valproic Acid 2.0018775368 19232924 16609825 15238991 17157402 18558336 18396377 19460635 18940202 17507914 18177632 18985861 18316065 20603192 17688650
MESH:D001714 Bipolar Disorder Valproic Acid 3.1117594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.0412125929
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 Benzo(a)pyrene 1.9420146248 17474063
MESH:D001943 Breast Neoplasms Dietary Fats 1.9420435547
MESH:D001943 Breast Neoplasms Fluorouracil 1.9418608205 16557594 16110121 15136595 16595493 19217205 18357371
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002276 Carcinoid Tumor Fluorouracil 4.8016051944
MESH:D002277 Carcinoma Fluorouracil 8.4017121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.4016835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7016705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.7012619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.7016332177 17088986 17045692 18930000 16799960 17971768
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.701701930 20007298 20935162 17173139 6705139
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0518695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7120419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.7116757204 18986760 16280240 17066447
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.836135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.8320889678
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.364080065
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7320734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis pirinixic acid 2.8819176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.138697196 15668235 15340226 16354765 12621046
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2415001691 17016597 16510598 17287894 17725105 17169374 18772588 17018589 16340194 17172411
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0015148649 16331619 17454858 18802399 17094418 17695437 17255274 20501625 17401013 18383874 16303861 16524972 18509181 18288408 14970324 15289873 17594712 16391804 18949393 18448328 16282729 17016601
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5015322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5017688650 8888407 16575769
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1218551238
MESH:D007644 Darier Disease Fluorouracil 4.9116733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.3221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3220420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.321733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5118367378
MESH:D004421 Dystonia Phenobarbital 10.731851702
MESH:D004421 Dystonia Valproic Acid 10.731851702
MESH:D004487 Edema pirinixic acid 6.8112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.8111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0418230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1010568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 11.153659116
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 11.1517275665 3659116
MESH:D004828 Epilepsies, Partial Phenobarbital 10.433922381 11558140
MESH:D004828 Epilepsies, Partial Valproic Acid 10.433922381 16628512
MESH:D004827 Epilepsy Phenobarbital 6.8020417680
MESH:D004827 Epilepsy Valproic Acid 6.8018234410 20417680
MESH:D004832 Epilepsy, Absence Phenobarbital 9.106401628
MESH:D004832 Epilepsy, Absence Valproic Acid 9.106254150 6426943 7562514
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 11.657750514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 11.657750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 10.883659116
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 10.883659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3420426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.3416530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.3416481741 16337965 16785472 15173087 17638652
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Dietary Fats 13.6018296743 17967931 19004024 19551842
MESH:D005234 Fatty Liver pirinixic acid 13.6020131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 13.6014986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005315 Fetal Diseases Valproic Acid 5.0216575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.238888407 18558336
MESH:D005355 Fibrosis Dietary Fats 8.9718296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.9720067830
MESH:D005910 Glioma Fluorouracil 2.9016145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.4415102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5810048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.5820558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly Phenobarbital 15.0116109766
MESH:D006529 Hepatomegaly pirinixic acid 15.0118467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.0115340226 16120746 12621046
MESH:D006849 Hydrocephalus Valproic Acid 4.9817688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.188697196 16959395 15340226 18606429 16354765
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6721332399
MESH:D006943 Hyperglycemia pirinixic acid 3.2620558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.7021332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9318850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.7316612254
MESH:D007249 Inflammation Dietary Fats 5.0520412841
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0512878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 7.4218457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 7.4216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.7116705839
MESH:D007680 Kidney Neoplasms Fluorouracil 7.7116985049
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1616294345 17596541
MESH:D008103 Liver Cirrhosis Dietary Fats 6.8018296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.8021047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1612878042
MESH:D008107 Liver Diseases Phenobarbital 2.1919363144
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 22.387678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 22.389163691 15890375 18177683 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 22.3820195826 21137059
MESH:D008113 Liver Neoplasms Fluorouracil 22.3817045692 16603448 18383874 15113037
MESH:D008113 Liver Neoplasms Phenobarbital 22.3819812893 8742319 21047994 15975961 19482888 19073162
MESH:D008113 Liver Neoplasms pirinixic acid 22.3820007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 22.3816984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.536135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 14.538603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 14.532563599 1399818 18308698 17172636 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.5312151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4017228818
MESH:D008175 Lung Neoplasms Aflatoxin B1 4.9114755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 4.9120464547 20064080 18569708 18520028 6695378 20869020 18816296 17053015 20135361
MESH:D008175 Lung Neoplasms Fluorouracil 4.9115246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 4.9119555203 11884234
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.9115086387
MESH:D008881 Migraine Disorders Valproic Acid 3.2518765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 8.7416381670
MESH:D009062 Mouth Neoplasms Fluorouracil 8.7416757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.6116239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.118888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2017596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0116411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5917484760
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.987678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 8.4411141357
MESH:D009369 Neoplasms Fluorouracil 8.4418600527 18239605 16928823
MESH:D009369 Neoplasms pirinixic acid 8.4417405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.1816359493 8888407
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.4916436463
MESH:D009765 Obesity Dietary Fats 4.4917217161 18457598 21332399 11836018 18674790 20132043 16723640 19632207 20518802
MESH:D009765 Obesity pirinixic acid 4.4920558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5116049721
MESH:D010018 Osteomalacia Phenobarbital 4.4817016548
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.4419003803 16929163 16500647 15113037
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.4416965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.692563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.8611118676 11896295 11222880 11399792
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.8620603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2117292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.2119082440 18626508
MESH:D019310 Pseudolymphoma Phenobarbital 12.6412752131
MESH:D019310 Pseudolymphoma Valproic Acid 12.6412752131 11422049
MESH:D012004 Rectal Neoplasms Fluorouracil 4.0818286688 15538739 18722050 16160472
MESH:D015427 Reperfusion Injury pirinixic acid 2.4219058328
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 2,6-dinitrotoluene 10.1618551238
MESH:D012640 Seizures Phenobarbital 10.163137016 16876388 11442880 4039156
MESH:D012640 Seizures Valproic Acid 10.163137016 17978042 1511512 15475178 11044598 11738929 14763951 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 4.946407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5919755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5916192470
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8419490988
MESH:D013226 Status Epilepticus Valproic Acid 4.6712833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.442093021 20155912
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4417498489 19084572 16424979 16951190 17522103 18396642 19015929 17172411 18567086 15786421
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.111399818
MESH:D014062 Tongue Neoplasms Fluorouracil 4.0616280240
MESH:D014178 Translocation, Genetic Valproic Acid 5.3717262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.643119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.0716049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.0717053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.758888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4310091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 3.9516803524
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D015430 Weight Gain Dietary Fats 3.8116723640
Pathway ID Pathway Name
KEGG:04810 Regulation of actin cytoskeleton
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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


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