AutismKB 2.0

Annotation Detail for PQBP1


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Basic Information Top
Gene Symbol:PQBP1 ( MRX55,MRXS3,MRXS8,NPW38,RENS1,SHS )
Gene Full Name: polyglutamine binding protein 1
Band: Xp11.23
Quick LinksEntrez ID:10084; OMIM: 300463; Uniprot ID:PQBP1_HUMAN; ENSEMBL ID: ENSG00000102103; HGNC ID: 9330
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2001Mental retardation
2062Neurodegenerative disorder
No data
No data
Desease Name
Renpenning syndrome
Golabi-Ito-Hall syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PQBP1 mRNAaffects expression 21346803
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PQBP1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PQBP1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PQBP1 mRNAaffects cotreatment|increases expression 17942748
D018038 Sodium Selenite Sodium Selenite results in increased expression of PQBP1 mRNAincreases expression 18175754
D013629 Tamoxifen Tamoxifen affects the expression of PQBP1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PQBP1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PQBP1 mRNAdecreases expression 19465110
D014635 Valproic Acid Valproic Acid results in decreased expression of PQBP1 mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.9015322242 14514962 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.908875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D001006 Anus, Imperforate marker/mechanism
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Valproic Acid 1.9918558336 17157402 18775368 17507914 18396377 17688650 18940202 20603192 18985861 18316065 19460635 19232924 18177632 16609825 15238991
MESH:D001714 Bipolar Disorder Valproic Acid 3.2120046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.6515746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.658888407
MESH:D001943 Breast Neoplasms Tamoxifen 1.9319288272 19221464 18984771 19189212 18997820 18351453 17049068 15565566 16818667 18629630 20859285 19155303 21152245 15668708 20390343 18815881 18821012 17893378 17242785 20005174 19011961 18425577 19066611 19103187 19059307 19289846 19084267 20544844 17261762 19142967 19487384 11161223 20065188 19115204 16273361 19189210 21138602 16202921 16873071 20135344 19244106 18855134 19200415 19410462 17440819
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1016705839
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 3.1016924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.986135515
MESH:D002547 Cerebral Palsy marker/mechanism
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1015861022 17681005 16105132 16919318 11677210 17333356 17110522
MESH:D019457 Chromosome Breakage Sodium Selenite 5.1715894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.218697196 12621046 15668235 15340226 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities marker/mechanism
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5520055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.558888407 16575769 17688650
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.4418551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.0616285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.6418551238 21346803
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.6415131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.6420420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.641733752 19641884
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.2419031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2419155303 17893378 16202921 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.573659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.4416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0720417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.876426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.0815345470
MESH:D005234 Fatty Liver Tamoxifen 15.0819224547 14986274
MESH:D005234 Fatty Liver Valproic Acid 15.0814986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.518888407 18558336
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3112621046 15340226 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716354765 16959395 18606429 8697196 15340226
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tamoxifen 5.3719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712878042 12200463
MESH:D007333 Insulin Resistance Sodium Selenite 3.4714714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.2916705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.2918625569
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1916294345 17596541
MESH:D008064 Lipidoses Tamoxifen 3.3715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3618564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3612878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.977678174
MESH:D008113 Liver Neoplasms Tamoxifen 7.9716684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9716984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.342876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008175 Lung Neoplasms Tamoxifen 2.3218625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3219555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4114737004
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8116827153 19196722 19196723 11731420 14580682
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D038901 Mental Retardation, X-Linked marker/mechanism
MESH:D008831 Microcephaly marker/mechanism
MESH:D008881 Migraine Disorders Valproic Acid 3.4118803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3117596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.327678174 18551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219196722 19200415 19189210
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.3216359493 8888407
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7416049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.0511118676 11399792 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 11.0520603192
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.2218760546
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.2215067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D019310 Pseudolymphoma Valproic Acid 5.0611422049 12752131
MESH:C537761 Renpenning syndrome 1 marker/mechanism
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures 2,6-dinitrotoluene 6.6318551238
MESH:D012640 Seizures Valproic Acid 6.631511512 15475178 3137016 14763951 17978042 16876388 11044598 11738929
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.3616709447
MESH:D013088 Spermatocele Tamoxifen 13.3616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013733 Testicular Diseases marker/mechanism
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3816049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.388653321 17572228 16712894
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7810091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33693
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

    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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