AutismKB 2.0

Annotation Detail for SNRPN


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Basic Information Top
Gene Symbol:SNRPN ( DKFZp686C0927,DKFZp686M12165,DKFZp761I1912,DKFZp762N022,FLJ33569,FLJ36996,FLJ39265,HCERN3,MGC29886,PWCR,RT-LI,SM-D,SMN,SNRNP-N,SNURF-SNRPN )
Gene Full Name: small nuclear ribonucleoprotein polypeptide N
Band: 15q11.2
Quick LinksEntrez ID:6638; OMIM: 182279; Uniprot ID:RSMN_HUMAN; ENSEMBL ID: ENSG00000128739; HGNC ID: 11164
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
pulmonary function traits (other)
Desease Name
Pulmonary function traits (other)
Desease Name
Prader-Willi syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SNRPN mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SNRPN mRNAaffects expression 16483693
D001262 Atenolol Atenolol results in increased expression of SNRPN mRNAincreases expression 19915711
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of SNRPN mRNAaffects expression 17484886
D005419 Flavonoids Flavonoids results in increased expression of SNRPN mRNAincreases expression 18035473
D008769 Methylnitronitrosoguanidine Methylnitronitrosoguanidine results in increased expression of SNRPN mRNAincreases expression 12634122
C004648 testosterone enanthate testosterone enanthate affects the expression of SNRPN mRNAaffects expression 17440010
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9518287403
MESH:D000741 Anemia, Aplastic marker/mechanism 18575777
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.1418705752 16124888 16227642 15700767 15673190 3786805 16192424 16050911 16011737 10355542 15721981 16097048
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0916705839
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.0918788625
MESH:D006332 Cardiomegaly Atenolol 4.8915969258
MESH:D002471 Cell Transformation, Neoplastic Methylnitronitrosoguanidine 4.182727394
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.3718551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.1121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 4.116884620 3786805 2869522 11566570 4309450 7440962 7179309 15027814 21278145 10092053 10915739 3732212 17522070 19085960 6623471 15968718 16227642 9327722 16177239 7120509 19336974 15998439
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.4512795759 15959796 12631006 61145 17595544 19224547 16239168 16045604
MESH:D005355 Fibrosis Carbon Tetrachloride 3.8118705752
MESH:D006333 Heart Failure Atenolol 4.9820082655
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9219110552 19900420
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.1917440010
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9316899240
MESH:D006973 Hypertension Atenolol 4.3811593098 15453913 15237695 14700505 19249413 14597852 12717102 15188945 12022239 11910301 15614026 15969258
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.4515338365
MESH:D017379 Hypertrophy, Left Ventricular Atenolol 5.9615237695
MESH:D007249 Inflammation Flavonoids 2.7717296493
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2116705839
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9417334410 16943688 16239168 11903743 11408273 17174718 16221502 17157831 21278145
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 1.7515959796 17714472 12609069 17805973 16097048 15876570 15650968 12632512 20821823 14512876 14724832 15362042 17900296 17557913 16116963 15370692 15057751 12666154 17976157 17631135 16011737 18187930 18277467 17823541 11481614 18472094 18263696 12667390 16015684 16248980 12586293 18339082 18166357 17708605 16033810 16192424 18395095 17698563 18472332 18429990 18481824 12632514 18420326 17766677 18317297 15818738 14716833 15123356 18705752 15931870 17565644 15730626 15996030 12898905 12958196 13678700 17944888 18205269 14748882 17721639 15893842 14620537 12741479 18006644 15052691 18054572 15925388 17869086 10355542 12445418 18412020 16136751 17922224 15673190 12649538 18395914 16027843 18156304 17761835 17525996 17481882 16638106 18251166 18210741 18376398 17640975 15338365 12445421 12546737 18418968 18279442 14716496 12389079
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1317285989 16246199 15720792 15830285 16964402
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9516899240 14706259
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 2.3019294768
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.7712014681 15583823
MESH:D008382 Marfan Syndrome Atenolol 6.6119430350
MESH:D053842 Microsatellite Instability Methylnitronitrosoguanidine 6.2917671175
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.2518551238
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.6912819281 16049721
MESH:D011218 Prader-Willi Syndrome marker/mechanism
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7118551238
MESH:D018382 Thyroid Hormone Resistance Syndrome Atenolol 6.759349583
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3716049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7110091137
Pathway ID Pathway Name
KEGG:03040 Spliceosome
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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