AutismKB 2.0

Annotation Detail for HUWE1


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Basic Information Top
Gene Symbol:HUWE1 ( ARF-BP1,HECTH9,HSPC272,Ib772,KIAA0312,LASU1,MULE,UREB1 )
Gene Full Name: HECT, UBA and WWE domain containing 1
Band: Xp11.22
Quick LinksEntrez ID:10075; OMIM: 300697; Uniprot ID:HUWE1_HUMAN; ENSEMBL ID: ENSG00000086758; HGNC ID: 30892
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04120Ubiquitin mediated proteolysis
No data
Pathway IDPathway Name
200175p53 pathway
200045Validated targets of C-MYC transcriptional activation
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2001Mental retardation
No data
No data
Desease Name
Mental retardation, X-linked syndromic, Turner type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006632 arsenic trioxide arsenic trioxide results in increased expression of HUWE1 mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of HUWE1 mRNAincreases expression 17879257
D004317 Doxorubicin Doxorubicin results in increased expression of HUWE1 mRNAincreases expression 16404146
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 7.6419825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.6420127859 20464547
MESH:D000230 Adenocarcinoma Doxorubicin 7.6417418594
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D000419 Albuminuria Doxorubicin 5.1321441931
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 4.1516206674
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.5714601052
MESH:D001932 Brain Neoplasms Doxorubicin 4.2617150277
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.1920146248 17474063
MESH:D001943 Breast Neoplasms Doxorubicin 2.1917369602 16595493 16096432 16115903 18695136 15668708 15939500 15692762 16264153 15994142 19526202 18382427 18628466 15634643 15136595 16322301 15567936 15993339 17426702 17983394 16935488 16826403 11325840 18234424
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.8611589617
MESH:D002276 Carcinoid Tumor Doxorubicin 5.6816051944
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.3615553829 16217749 11135700 14691202 15073043
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 3.3618059187 16234567 16023760 17876044
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.7419014326
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 3.3316201981 1485588
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.5712490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 5.0320419170
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 5.036189445
MESH:D009202 Cardiomyopathies Doxorubicin 3.8016731534 17974986 15476868 15792986 18627295 16455267 16269455 17007740 17351982 17382496 15505089 16952015 16109756 17924179 17329180 16278810 17308081 17928571 16651473 16612575 17131338 16242529 16364871 15811867 17519947
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 3.0616243910 17334414
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.6720501625
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.6718802399 18259882
MESH:D023903 Coronary Restenosis arsenic trioxide 4.7712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.6315213294
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 2.5317416283
MESH:D004362 Drug Toxicity Doxorubicin 3.9918602426
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.7217359293
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 6.0218037988
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.7312903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.7316530937
MESH:D005234 Fatty Liver arsenic trioxide 3.7715073043
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 5.3319069698
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.8516904648
MESH:D005909 Glioblastoma Doxorubicin 3.6117150277
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.8115692506
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D006331 Heart Diseases Doxorubicin 3.7817875725 12587719 16495754 18674790 16244372 16144979 18006777 17888722 16879835 16244371 14766674 16707910 16330681
MESH:D006333 Heart Failure Doxorubicin 3.5917481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.3815692506
MESH:D006689 Hodgkin Disease Doxorubicin 3.8215147373 17606976 18501091
MESH:D007674 Kidney Diseases Doxorubicin 3.2815699352 16775033 15369732
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.6416707910
MESH:D007938 Leukemia arsenic trioxide 3.0115070760
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 6.0216085563
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.2812560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 5.0516972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.7514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.2419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1916467208 16968895 17050201 20471514 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.4817712046 17869043 17107899 12679006 17649720 15336539 16891316 16330433 12712474 16966277 19642359 17217047 11468182 12018890 16112521 16331271 16823087 15748426 19075265 15622746 15213294 19225113 19035177 11161223 9834237
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.9416882451
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.1616439617 16595196
MESH:D008113 Liver Neoplasms arsenic trioxide 5.0014682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 5.0021137059 20195826
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.9920377131
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 6.9917085340 16842330
MESH:D008133 Long QT Syndrome arsenic trioxide 3.6915213294
MESH:D008175 Lung Neoplasms arsenic trioxide 3.6911798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.6920464547 18569708 17053015 18816296 20869020 18520028 20135361 6695378 20064080
MESH:D008175 Lung Neoplasms Doxorubicin 3.6917418594 6189445
MESH:D008223 Lymphoma Doxorubicin 3.7716098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 4.1817654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 5.2215621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.2915458769
MESH:D008545 Melanoma Doxorubicin 2.3316827129
OMIM:300220 MENTAL RETARDATION, X-LINKED, SYNDROMIC 10 marker/mechanism
OMIM:300706 MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE marker/mechanism
MESH:D008654 Mesothelioma Doxorubicin 3.2017638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.9815792986
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D052016 Mucositis Doxorubicin 5.5317415656
MESH:D009101 Multiple Myeloma arsenic trioxide 3.4114977855 19417148 19549372 15949261 11468182
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.5418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.3616105982 16882451
MESH:D009203 Myocardial Infarction Doxorubicin 3.0919429709 15857846
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.5416624393
MESH:D009362 Neoplasm Metastasis Doxorubicin 3.0918259882
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3511141357
MESH:D009401 Nephrosis Doxorubicin 5.4216636307 16899518
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.4216889571 15640375
MESH:D009436 Neural Tube Defects arsenic trioxide 3.3810525206
MESH:D009447 Neuroblastoma Doxorubicin 3.4515555623
MESH:D012516 Osteosarcoma Doxorubicin 4.4815930896
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.5119769630 16624393 12452020
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.6415580305
MESH:D010235 Paraganglioma arsenic trioxide 4.6919927285
MESH:D003557 Phyllodes Tumor Doxorubicin 6.0217983394
MESH:D010997 Pleural Neoplasms Doxorubicin 6.0217638057
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5119131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5117292933
MESH:D011471 Prostatic Neoplasms Doxorubicin 2.5116888761 16729912 15749863 18437689 16868541 15897917
MESH:D051437 Renal Insufficiency Doxorubicin 4.8717922066
MESH:D012509 Sarcoma Doxorubicin 4.4417710206 16767912 15675481 15625365 17203757 18313854
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 12.2916646077
MESH:D012512 Sarcoma, Ewing's Doxorubicin 12.2916326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.5317846226
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.3919755658 10029692
MESH:D012878 Skin Neoplasms Doxorubicin 6.3915692506
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 5.2217203757 16767912 15625365
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4517007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4520155912 2093021
MESH:D013964 Thyroid Neoplasms arsenic trioxide 8.4919014326
MESH:D013964 Thyroid Neoplasms Doxorubicin 8.4917909728 16010429
MESH:D016171 Torsades de Pointes arsenic trioxide 4.7015213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 9.1812845720 20435036 11780464 12973940
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 9.1817053015
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 9.1817653716
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.8717334414 17638931 17678736 16364871
Pathway ID Pathway Name
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128394567
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA444929Mental Retardation
    PA152238066Mental Retardation, X-Linked
    PA145007173Mental Retardation, X-Linked, Nonsyndromic
    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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