AutismKB 2.0

Annotation Detail for UPF1


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Basic Information Top
Gene Symbol:UPF1 ( FLJ43809,FLJ46894,HUPF1,KIAA0221,NORF1,RENT1,pNORF1 )
Gene Full Name: UPF1 regulator of nonsense transcripts homolog (yeast)
Band: 19p13.11
Quick LinksEntrez ID:5976; OMIM: 601430; Uniprot ID:RENT1_HUMAN; ENSEMBL ID: ENSG00000005007; HGNC ID: 9962
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1841Stomach cancer
2082Ataxia telangiectasia
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002330 Carmustine Carmustine results in decreased expression of UPF1 mRNAdecreases expression 15980968
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of UPF1 mRNAaffects expression 17555576
C475919 hydroxytamoxifen hydroxytamoxifen results in increased expression of UPF1 mRNAincreases expression 16849584
D015741 Metribolone Metribolone promotes the reaction [NDRG1 protein binds to UPF1 protein]affects binding|increases reaction 17220478
D020849 Raloxifene Raloxifene affects the expression of UPF1 mRNAaffects expression 14699072
D020849 Raloxifene [Raloxifene co-treated with ESR2 protein] results in decreased expression of UPF1 mRNAaffects cotreatment|decreases expression 19059307
D013629 Tamoxifen Tamoxifen affects the expression of UPF1 mRNAaffects expression 14699072
D013629 Tamoxifen [Tamoxifen co-treated with ESR2 protein] results in decreased expression of UPF1 mRNAaffects cotreatment|decreases expression 19059307
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000419 Albuminuria Raloxifene 4.9817308373 17451421
MESH:D000544 Alzheimer Disease Raloxifene 2.5915800139
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001930 Brain Injuries Raloxifene 4.8916580743
MESH:D001932 Brain Neoplasms Carmustine 4.6916187019
MESH:D001943 Breast Neoplasms Raloxifene 2.2816912660 16837676 17242785 17049068 17440819 17952589 15775269 15758505 17893378 17595753 15572757 17261762
MESH:D001943 Breast Neoplasms Tamoxifen 2.2818984771 17893378 19244106 19115204 20135344 19189212 19066611 15668708 19059307 17049068 16818667 21138602 16273361 15565566 20005174 18821012 11161223 19189210 18351453 19084267 19289846 20859285 20065188 18815881 19103187 20544844 18425577 19288272 17242785 19487384 20390343 18997820 21152245 17261762 16873071 19410462 19200415 19142967 16202921 19011961 17440819 19155303 18629630 19221464 18855134
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8516924424
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 10.5317572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 10.5317572228
MESH:D002318 Cardiovascular Diseases Raloxifene 3.6515775269
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1017681005 15861022 16105132 17110522 16919318 17333356 11677210
MESH:D003072 Cognition Disorders Raloxifene 5.0415800139
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D003865 Depressive Disorder, Major Raloxifene 4.4517474826
MESH:D003928 Diabetic Nephropathies Raloxifene 10.0015920148 17308373 17451421
MESH:D003928 Diabetic Nephropathies Tamoxifen 10.0019279558
MESH:D004487 Edema Raloxifene 3.6615860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 17.6912538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 17.6915845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 17.6919031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2417893378 19155303 20544844 16202921
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.1315345470
MESH:D005234 Fatty Liver Raloxifene 15.1317473493
MESH:D005234 Fatty Liver Tamoxifen 15.1314986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005909 Glioblastoma Carmustine 4.1216187019
MESH:D006331 Heart Diseases Raloxifene 3.7411110106
MESH:D006973 Hypertension Raloxifene 2.9617577099 15787275
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tamoxifen 2.4919457130
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3118625569
MESH:D007889 Leiomyoma Raloxifene 4.8516973256
MESH:D008064 Lipidoses Tamoxifen 3.3715342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008113 Liver Neoplasms Tamoxifen 2.3116684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8111731420 19196722 14580682 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Carmustine 3.7612393984
MESH:D008545 Melanoma Tamoxifen 3.7612393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 6.0815863610
MESH:D009101 Multiple Myeloma Raloxifene 3.6516497877
MESH:D009232 Myxoma Raloxifene 6.0816343187
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219189210 19196722 19200415
MESH:D010024 Osteoporosis Raloxifene 3.5715775268 17882678 19059307
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.5817823083 15758505 15579764 17893378
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D011471 Prostatic Neoplasms Raloxifene 3.3016220300 16536755 15731164
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.3015067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D011693 Purpura Raloxifene 6.0815770314
MESH:D013088 Spermatocele Ethinyl Estradiol 13.3616709447
MESH:D013088 Spermatocele Tamoxifen 13.3616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D020521 Stroke Raloxifene 4.0816837676
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013978 Tibial Fractures Raloxifene 5.7319048282
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 5.5717572228
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.5716712894 17572228 8653321
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054556 Venous Thromboembolism Raloxifene 5.7316837676
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D014846 Vulvar Neoplasms Raloxifene 6.0816343187
Pathway ID Pathway Name
KEGG:03015 mRNA surveillance pathway
KEGG:03013 RNA transport
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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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