AutismKB 2.0

Annotation Detail for PUM1


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Basic Information Top
Gene Symbol:PUM1 ( HSPUM,KIAA0099,PUMH,PUMH1,PUML1 )
Gene Full Name: pumilio homolog 1 (Drosophila)
Band: 1p35.2
Quick LinksEntrez ID:9698; OMIM: 607204; Uniprot ID:PUM1_HUMAN; ENSEMBL ID: ENSG00000134644; HGNC ID: 14957
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Membrane Trafficking
No data
No data
Pathway IDPathway Name
500014Golgi Associated Vesicle Biogenesis
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
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 PUM1 mRNAdecreases expression 19150397
D005472 Fluorouracil Fluorouracil affects the expression of PUM1 mRNAaffects expression 16584549
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of PUM1 mRNAaffects cotreatment|increases expression 17183730
D008694 Methamphetamine Methamphetamine results in increased expression of PUM1 mRNAincreases expression 15542705
C006253 pirinixic acid pirinixic acid results in decreased expression of PUM1 mRNAdecreases expression 18445702
D018038 Sodium Selenite Sodium Selenite results in increased expression of PUM1 mRNAincreases expression 18175754
D014501 Uranium Uranium affects the expression of PUM1 mRNAaffects expression 15672453
C005460 uranyl acetate uranyl acetate affects the expression of PUM1 mRNAaffects expression 15672453
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of PUM1 mRNAaffects cotreatment|increases expression 17183730
C025643 vinclozolin vinclozolin affects the expression of PUM1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.728875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4617638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7216434500
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000740 Anemia Fluorouracil 3.8715504547 16511603 17963324
MESH:D001008 Anxiety Disorders Valproic Acid 9.3217497229
MESH:D001008 Anxiety Disorders vinclozolin 9.3219015723
MESH:D001321 Autistic Disorder Valproic Acid 1.9920603192 19460635 15238991 18940202 18775368 19232924 16609825 17507914 18558336 17688650 18985861 18396377 18177632 18316065 17157402
MESH:D001714 Bipolar Disorder Valproic Acid 3.1517594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.518888407
MESH:D001943 Breast Neoplasms Fluorouracil 2.4615136595 18608205 19217205 18357371 16595493 16110121 16557594
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9316051944
MESH:D002277 Carcinoma Fluorouracil 3.7017121937
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1017971768 17045692 17088986 16332177 16799960 18930000
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0918695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5318986760 17066447 16757204 16280240
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8420889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9715894690
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2618772588 17169374 15001691 17287894 16340194 17018589 16510598 17725105 17172411 17016597
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0017594712 20501625 17454858 15289873 16331619 14970324 15148649 16524972 17094418 17255274 18383874 17695437 18288408 18802399 18509181 16391804 17401013 18448328 16282729 16303861 17016601 18949393
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.908888407 17688650 16575769
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D007644 Darier Disease Fluorouracil 5.0316733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9316285004
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.1915131321
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.191733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.746426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6420426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.6416481741 16337965 16785472 15173087 17638652
MESH:D005234 Fatty Liver pirinixic acid 8.3020131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 8.3014986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D005910 Glioma Fluorouracil 2.9316145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5015102660 15162350 18337622
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.2116221962 18467677 19772884 19176532
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006948 Hyperkinesis Methamphetamine 5.7417658665
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8416612254
MESH:D007248 Infertility, Male vinclozolin 3.1516467254
MESH:D007333 Insulin Resistance pirinixic acid 7.6716306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.6714714311
MESH:D007680 Kidney Neoplasms Fluorouracil 3.4516985049
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1716294345 17596541
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008113 Liver Neoplasms Fluorouracil 4.7216603448 17045692 18383874 15113037
MESH:D008113 Liver Neoplasms pirinixic acid 4.7220007298 16377806 15890375
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms Fluorouracil 2.0015246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0315086387
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2414737004
MESH:D008881 Migraine Disorders Valproic Acid 3.3118803445 18765137
MESH:D009062 Mouth Neoplasms Fluorouracil 3.7618986760 16757204
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2417596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009369 Neoplasms Fluorouracil 5.2418600527 18239605 16928823
MESH:D009369 Neoplasms pirinixic acid 5.2417405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.2316359493 8888407
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5516436463
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7219003803 15113037 16500647 16929163
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.5320603192
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.5318220299 18042343 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3418626508 19082440
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1618286688 16160472 15538739 18722050
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures Valproic Acid 2.8514763951 16876388 1511512 11044598 17978042 15475178 3137016 11738929
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0019015929 17522103 16951190 17498489 18567086 17172411 15786421 18396642 16424979 19084572
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1516280240
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0416803524
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB03131 - Beta-Mercaptoethanol
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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