AutismKB 2.0

Annotation Detail for POT1


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Basic Information Top
Gene Symbol:POT1 ( DKFZp586D211,HPOT1 )
Gene Full Name: protection of telomeres 1 homolog (S. pombe)
Band: 7q31.33
Quick LinksEntrez ID:25913; OMIM: 606478; Uniprot ID:POTE1_HUMAN; ENSEMBL ID: ENSG00000128513; HGNC ID: 17284
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Chromosome Maintenance
Pathway IDPathway Name
200072Regulation of Telomerase
No data
Pathway IDPathway Name
500673Packaging Of Telomere Ends
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of POT1 mRNAdecreases expression 20106945
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of POT1 mRNAdecreases expression 15336504
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of POT1 mRNAaffects expression 17555576
D013629 Tamoxifen Tamoxifen affects the expression of POT1 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.2714745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4420127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4414692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0417474063 20146248
MESH:D001943 Breast Neoplasms Tamoxifen 2.0419189212 19244106 15668708 16273361 19221464 19059307 20135344 17242785 17893378 16873071 17440819 20390343 11161223 18984771 19200415 16202921 19155303 21138602 19189210 18997820 18351453 18821012 18815881 20005174 19084267 17049068 19011961 18855134 15565566 20065188 20859285 17261762 18629630 19487384 19115204 19288272 20544844 19142967 21152245 19103187 19289846 19410462 18425577 19066611 16818667
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.0719066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8616924424
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0117572228
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1717681005 17333356 16105132 15861022 16919318 11677210 17110522
MESH:D003711 Demyelinating Diseases Tamoxifen 4.9219031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8419279558
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.6812538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.6819031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2920544844 16202921 19155303 17893378
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005234 Fatty Liver Ethinyl Estradiol 9.1415345470
MESH:D005234 Fatty Liver Tamoxifen 9.1419224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4516709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.1614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.8119069698
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tamoxifen 2.5319457130
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3818625569
MESH:D008064 Lipidoses Tamoxifen 3.4315342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 1.7518564211
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.9221137059 20195826
MESH:D008113 Liver Neoplasms Tamoxifen 4.9216684651
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.4617053015 20064080 20464547 6695378 18520028 18816296 20135361 20869020 18569708
MESH:D008175 Lung Neoplasms Tamoxifen 2.4618625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.3919428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8614580682 19196723 11731420 19196722 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 5.2719453300
MESH:D008545 Melanoma Tamoxifen 1.9212393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.8115990972
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6719393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6119410462
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.7219189210 19200415 19196722
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0517292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0515067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.2410029692 19755658
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.248532709
MESH:D013088 Spermatocele Ethinyl Estradiol 14.1116709447
MESH:D013088 Spermatocele Tamoxifen 14.1116709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.6719457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.4217053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.4216712894 17572228 8653321
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9715869587 14671159
Pathway ID Pathway Name
REACT:22172 Chromosome Maintenance
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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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