AutismKB 2.0

Annotation Detail for GNPTAB


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Basic Information Top
Gene Symbol:GNPTAB ( DKFZp762B226,GNPTA,ICD,KIAA1208,MGC4170 )
Gene Full Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Band: 12q23.2
Quick LinksEntrez ID:79158; OMIM: 607840; Uniprot ID:GNPTA_HUMAN; ENSEMBL ID: ENSG00000111670; HGNC ID: 29670
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Lysosomal storage diseases
H00143Mucolipidosis II and III
Genetic disorders
Desease IDDesease Name
2126Encephalopathies
No data
No data
Desease Name
Mucolipidosis II alpha/beta
Mucolipidosis III alpha/beta
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of GNPTAB mRNAdecreases expression 20064835
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 GNPTAB mRNAdecreases expression 19150397
D016572 Cyclosporine Cyclosporine results in decreased expression of GNPTAB mRNAdecreases expression 20106945
D004317 Doxorubicin GNPTAB protein affects the susceptibility to Doxorubicinaffects response to substance 16217747
D014747 Vinblastine GNPTAB protein affects the susceptibility to Vinblastineaffects response to substance 16217747
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.6920464547 20127859
MESH:D000230 Adenocarcinoma Doxorubicin 4.6917418594
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D000419 Albuminuria Doxorubicin 4.9821441931
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.3114601052
MESH:D001932 Brain Neoplasms Doxorubicin 4.1617150277
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.2020146248 17474063
MESH:D001943 Breast Neoplasms Doxorubicin 2.2016935488 16322301 18695136 15994142 16264153 18382427 18628466 15668708 15136595 17426702 15634643 15567936 19526202 16595493 15939500 15993339 17983394 18234424 16115903 16826403 16096432 15692762 17369602 11325840
MESH:D002276 Carcinoid Tumor Doxorubicin 5.4216051944
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 2.2618059187 17876044 16023760 16234567
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 7.431485588 16201981
MESH:D002292 Carcinoma, Renal Cell Vinblastine 7.431485588
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9720419170
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 4.976189445
MESH:D009202 Cardiomyopathies Doxorubicin 3.7416269455 17928571 16651473 17308081 17351982 15811867 17519947 17007740 15476868 17974986 18627295 16952015 17131338 16278810 17329180 16455267 16364871 16612575 15792986 16242529 15505089 17924179 16109756 17382496 16731534
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 3.0416243910 17334414
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3520889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3512371664
MESH:D002779 Cholestasis Cyclosporine 3.1719486331
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.9918259882 18802399
MESH:D015179 Colorectal Neoplasms Vinblastine 2.9918802399
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 2.5217416283
MESH:D004362 Drug Toxicity Doxorubicin 3.9318602426
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.6717359293
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.7718037988
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5920426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5916530937
MESH:D005234 Fatty Liver Cyclosporine 3.2319224547
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 5.1319069698
MESH:D005355 Fibrosis Cyclosporine 3.6212168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D005909 Glioblastoma Doxorubicin 3.5617150277
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.7515692506
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8220471113
MESH:D006331 Heart Diseases Doxorubicin 3.7218006777 16244371 16879835 12587719 14766674 18674790 16495754 16144979 16244372 16330681 17875725 16707910 17888722
MESH:D006333 Heart Failure Doxorubicin 3.5417481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.2715692506
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006689 Hodgkin Disease Doxorubicin 8.8918501091 17606976 15147373
MESH:D006689 Hodgkin Disease Vinblastine 8.8918501091 18180244
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 6.7218776723 10903974 8314463
MESH:D007674 Kidney Diseases Doxorubicin 6.7215369732 15699352 16775033
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.5316707910
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.7716085563
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.1516439617 16595196
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1421137059 20195826
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 3.2117085340 16842330
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.6020464547 18520028 18569708 20135361 20869020 17053015 18816296 6695378 20064080
MESH:D008175 Lung Neoplasms Doxorubicin 2.6017418594 6189445
MESH:D008223 Lymphoma Doxorubicin 3.7016098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 4.0917654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 5.0515621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.2415458769
MESH:D008545 Melanoma Doxorubicin 3.9416827129
MESH:D008545 Melanoma Vinblastine 3.9416248763 18176117 16809738 12374674 15577323 15577320 17761969 18332650 16432458 18505091
MESH:D008654 Mesothelioma Doxorubicin 3.1717638057
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.8715792986
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
OMIM:252500 MUCOLIPIDOSIS II ALPHA/BETA marker/mechanism
OMIM:252600 MUCOLIPIDOSIS III ALPHA/BETA marker/mechanism
MESH:D052016 Mucositis Doxorubicin 5.3317415656
MESH:D009203 Myocardial Infarction Doxorubicin 3.0719429709 15857846
MESH:D009362 Neoplasm Metastasis Doxorubicin 3.0718259882
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3111141357
MESH:D009401 Nephrosis Doxorubicin 5.2516636307 16899518
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 10.4018481113 19348381
MESH:D009404 Nephrotic Syndrome Doxorubicin 10.4016889571 15640375
MESH:D009447 Neuroblastoma Doxorubicin 3.4215555623
MESH:D009503 Neutropenia Vinblastine 4.9717378895
MESH:D012516 Osteosarcoma Doxorubicin 4.4015930896
MESH:D003557 Phyllodes Tumor Doxorubicin 5.7717983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.7717638057
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2117292933
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.2116868541 16729912 16888761 18437689 15749863 15897917
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D051437 Renal Insufficiency Doxorubicin 4.7017922066
MESH:D012509 Sarcoma Doxorubicin 4.3417203757 16767912 17710206 15625365 15675481 18313854
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.6814601052 16326096
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.3317846226
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.2810029692 19755658
MESH:D012878 Skin Neoplasms Doxorubicin 6.2815692506
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 5.0517203757 15625365 16767912
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013964 Thyroid Neoplasms Doxorubicin 3.6417909728 16010429
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.5317053015
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 5.5317653716
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014625 Vaginal Neoplasms Vinblastine 5.5315577323
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.7017638931 17678736 16364871 17334414
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
KEGG:04142 Lysosome
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128394710
    • No data
    Releated disease ID Related disease Name
    PA445757Stuttering
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA444978Mucolipidoses
    No data
    Drug Bank Top

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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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