AutismKB 2.0

Annotation Detail for SSR1


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Basic Information Top
Gene Symbol:SSR1 ( DKFZp781N23103,FLJ14232,FLJ22100,FLJ23034,FLJ78242,FLJ93042,TRAPA )
Gene Full Name: signal sequence receptor, alpha
Band: 6p24.3
Quick LinksEntrez ID:6745; OMIM: 600868; Uniprot ID:SSRA_HUMAN; ENSEMBL ID: ENSG00000124783; HGNC ID: 11323
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04141Protein processing in endoplasmic reticulum
Pathway IDPathway Name
Diabetes pathways
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SSR1 mRNAaffects expression 17562736
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of SSR1 mRNAaffects expression 17484886
D016572 Cyclosporine Cyclosporine results in increased expression of SSR1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SSR1 mRNAincreases expression 17557909
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of SSR1 mRNAaffects cotreatment|increases expression 17183730
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of SSR1 mRNAincreases expression 17616710
C010327 salinomycin salinomycin results in decreased expression of SSR1 mRNAdecreases expression 19682730
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SSR1 mRNAincreases expression 19465110
C066340 tolcapone tolcapone binds to SSR1 proteinaffects binding 19783845
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of SSR1 mRNAaffects cotreatment|increases expression 17183730
D002762 Cholecalciferol Cholecalciferol results in increased expression of SSR1 mRNAincreases expression 16508948
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9714514962 15322242 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.978875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0719490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D017109 Akathisia, Drug-Induced tolcapone 6.5111080934
MESH:D000544 Alzheimer Disease tolcapone 3.3020150427
MESH:D000550 Amblyopia Valproic Acid 5.4517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.6817497229
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8617507914 18177632 20603192 19460635 18316065 16609825 15238991 18775368 18985861 19232924 18558336 17688650 18396377 18940202 17157402
MESH:D001327 Autoimmune Diseases Cholecalciferol 5.2016142846
MESH:D001714 Bipolar Disorder Valproic Acid 3.1420046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3115746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.318888407
MESH:D001943 Breast Neoplasms salinomycin 2.3719682730
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3720435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9516227642 15700767 15673190 10355542 16011737 18705752 3786805 16124888 16050911 16192424 16097048 15721981
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.903084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 2.9018788625
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6212371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7520734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 8.1219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1216105132 11677210 15861022 17681005 17110522 17333356 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1515340226 16354765 15668235 8697196 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5120055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5116575769 8888407 17688650
MESH:D003866 Depressive Disorder tolcapone 4.4011224284 7768276
MESH:D003865 Depressive Disorder, Major tolcapone 5.0210440460
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.4414986274 12392966 19420014 19416960 16227642 18713872 11834606 10663392 17522070 11461765 16177239 10915739 19085960 18071297 16109766 11743745 16081117 16485898 12958197 14725611 15619225 11739529 10774834 11287661 11421492 19164858 15968718 12153990 17906064 2444490 16781746 19923254 12540782 19739265 12705907 11529661 14550746 16393943 19370779 12594235 17562736
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 12.4421278145 6623471 2869522 19336974 10092053 16227642 4309450 3732212 10915739 7440962 15027814 17522070 7179309 15968718 9327722 3786805 11566570 15998439 16177239 19085960 7120509 6884620
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.4420420201
MESH:D056486 Drug-Induced Liver Injury tolcapone 12.4419783845 16604736
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.441733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004409 Dyskinesia, Drug-Induced tolcapone 5.6211455177
MESH:D004421 Dystonia Valproic Acid 4.201851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.333659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.133922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0020417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.716426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.263659116
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8016805852 15623463 15150132 15547733 16510608 15264214 15547721 15878914 16704527
MESH:D054908 Extensively Drug-Resistant Tuberculosis tolcapone 6.1619578428
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 19.9717595544 61145 16045604 12795759 15959796 19224547 16239168 12631006
MESH:D005234 Fatty Liver Cyclosporine 19.9719224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.9715345470
MESH:D005234 Fatty Liver Valproic Acid 19.9719224547 14986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.2918558336 8888407
MESH:D005355 Fibrosis Carbon Tetrachloride 15.7718705752
MESH:D005355 Fibrosis Cyclosporine 15.7712639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.7720067830
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4010048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7619900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0715340226 12621046 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.0617688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616354765 8697196 18606429 16959395 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7316899240
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2615338365
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8016612254
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.0512587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.058314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8512371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1716294345 17596541
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8821278145 16943688 17334410 17157831 16239168 17174718 11903743 11408273 16221502
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3215925388 18006644 15052691 12667390 17944888 17557913 18395095 12898905 18705752 14620537 15959796 12632514 18263696 15338365 15996030 17525996 12958196 17640975 16097048 17631135 16033810 12389079 12649538 17698563 12741479 12445421 12609069 16192424 14716833 17761835 17900296 18429990 16011737 13678700 16638106 15818738 20821823 15370692 12445418 10355542 12586293 18418968 18317297 17805973 18420326 16248980 15650968 17708605 18481824 18156304 16136751 14748882 11481614 12632512 15057751 17721639 14724832 18412020 17922224 14716496 18472094 18395914 17565644 16015684 15931870 18277467 18166357 16027843 17481882 15123356 16116963 17714472 15893842 12546737 17869086 18210741 18054572 15876570 17976157 17766677 18205269 14512876 18187930 18376398 15673190 18279442 18251166 18339082 18472332 15730626 12666154 17823541 15362042
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3212878042
MESH:D008107 Liver Diseases Acetaminophen 4.0019014921 12969438 16611625 19784758 11587558 19460945 16610002 12587719
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0016964402 15830285 16246199 17285989 15720792
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3415123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.8516871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.8516899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.5519294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5516984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.0412014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0412151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4817228818
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental salinomycin 3.8519682730
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D008881 Migraine Disorders Valproic Acid 3.2918765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.178888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2317596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.2116359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010300 Parkinson Disease tolcapone 3.648635184 7566641 9591521 11432539 19783845 20334432 8739811 17089403 9708959 9333106 9305320 11793426 16758261 19578428 11586115 1977408 9754991 10651109 20216409 18328768 11746615
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1211399792 11896295 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.1220603192
MESH:D011471 Prostatic Neoplasms Cholecalciferol 4.2017024972
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D019310 Pseudolymphoma Valproic Acid 4.7612752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3219155313
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures Valproic Acid 2.8316876388 11738929 3137016 17978042 11044598 15475178 14763951 1511512
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7612833885
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3317575124 12958204
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.4517262798
MESH:D018088 Tuberculosis, Multidrug-Resistant tolcapone 6.1619578428
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.713119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.828888407
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D014820 Vitiligo tolcapone 5.3510573327
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
KEGG:04141 Protein processing in endoplasmic reticulum
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  (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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