AutismKB 2.0

Annotation Detail for RAPSN


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Basic Information Top
Gene Symbol:RAPSN ( CMS1D,CMS1E,MGC3597,RNF205 )
Gene Full Name: receptor-associated protein of the synapse
Band: 11p11.2
Quick LinksEntrez ID:5913; OMIM: 601592; Uniprot ID:RAPSN_HUMAN; ENSEMBL ID: ENSG00000165917; HGNC ID: 9863
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1982Myopathy
No data
No data
Desease Name
Myasthenic syndrome, congenital, associated with facial dysmorphism and acetylcholine receptor deficiency
Fetal akinesia deformation sequence
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of RAPSN mRNAaffects expression 17484886
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of RAPSN mRNAaffects expression 17555576
D010656 Phenylephrine Phenylephrine results in decreased expression of RAPSN mRNAdecreases expression 18158353
D013629 Tamoxifen Tamoxifen affects the expression of RAPSN 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 Ethinyl Estradiol 1.8814692618
MESH:D001145 Arrhythmias, Cardiac Phenylephrine 4.5117460149
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001919 Bradycardia Phenylephrine 5.1715306635
MESH:D001943 Breast Neoplasms Tamoxifen 2.1719059307 19142967 17440819 19103187 20859285 18351453 19288272 18855134 18425577 11161223 18984771 19155303 19011961 16202921 20005174 19115204 17893378 20135344 16873071 20544844 19410462 18629630 16273361 15565566 19189212 19244106 21138602 15668708 18821012 18997820 19289846 20065188 19066611 17261762 19200415 21152245 20390343 19221464 16818667 19487384 19189210 17049068 17242785 18815881 19084267
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.3416097048 16227642 15721981 16192424 16050911 15673190 3786805 16124888 15700767 10355542 16011737 18705752
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 5.0719066611
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.1518788625
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 3.1516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 4.0117572228
MESH:D006332 Cardiomegaly Phenylephrine 3.7215728586 11179087 17124262 16170337 11754973 17287366
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1717681005 16919318 17333356 11677210 15861022 16105132 17110522
MESH:D003711 Demyelinating Diseases Tamoxifen 4.9219031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8419279558
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 2.1215968718 10092053 19085960 9327722 16177239 17522070 2869522 3732212 10915739 3786805 7179309 4309450 7440962 11566570 21278145 16227642 6623471 15027814 15998439 19336974 7120509 6884620
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.6812538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.6819031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2919155303 17893378 16202921 20544844
MESH:D005234 Fatty Liver Carbon Tetrachloride 15.6915959796 61145 12795759 16239168 16045604 19224547 12631006 17595544
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.6915345470
MESH:D005234 Fatty Liver Tamoxifen 15.6914986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4516709447
OMIM:208150 FETAL AKINESIA DEFORMATION SEQUENCE marker/mechanism
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.1614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.8119069698
MESH:D005355 Fibrosis Carbon Tetrachloride 4.0118705752
MESH:D006505 Hepatitis Carbon Tetrachloride 4.1019110552 19900420
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 5.1616899240
MESH:D006973 Hypertension Phenylephrine 3.1912717712 8949925
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.6515338365
MESH:D006984 Hypertrophy Phenylephrine 4.9818502941 12791704
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716945680 16569931
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:D008103 Liver Cirrhosis Carbon Tetrachloride 3.0017174718 11903743 17334410 16943688 16239168 16221502 21278145 17157831 11408273
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.5615893842 17766677 16011737 15362042 15650968 16248980 14716833 12445418 17721639 18210741 10355542 12632512 11481614 12741479 18418968 18054572 18205269 14512876 18705752 18187930 17900296 15931870 20821823 18376398 13678700 15370692 12445421 18395914 12609069 12958196 18317297 12586293 16015684 17869086 18166357 16192424 18481824 17481882 18395095 17631135 17944888 18339082 16116963 17922224 12667390 17698563 16033810 16638106 16097048 12389079 18429990 15818738 18277467 16136751 14724832 18412020 12666154 17557913 15959796 18006644 14748882 15996030 14716496 18472094 17976157 15338365 17823541 14620537 17525996 17708605 18263696 12649538 18420326 18251166 15876570 17805973 17565644 12898905 15057751 12632514 18156304 15925388 16027843 17761835 15052691 15730626 18472332 12546737 17640975 15123356 18279442 17714472 15673190
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.5618564211
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1516246199 17285989 16964402 15830285 15720792
MESH:D017093 Liver Failure Carbon Tetrachloride 4.7315123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 4.0816899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.9919294768
MESH:D008113 Liver Neoplasms Tamoxifen 4.9916684651
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.8415583823 12014681
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.3919428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8616827153 14580682 19196722 19196723 11731420
MESH:D020149 Manganese Poisoning Tamoxifen 5.2719453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.8115990972
OMIM:608931 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY marker/mechanism
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6719393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6119410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.7219196722 19200415 19189210
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.9415861022 16919318
MESH:D012852 Sinusitis Phenylephrine 5.337327846
MESH:D013088 Spermatocele Ethinyl Estradiol 14.1116709447
MESH:D013088 Spermatocele Tamoxifen 14.1116709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.6719457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.488653321 16712894 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9714671159 15869587
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA34224
    • No data
    Releated disease ID Related disease Name
    PA152238425Multiple Pterygium Syndrome
    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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