AutismKB 2.0

Annotation Detail for CELA1


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Basic Information Top
Gene Symbol:CELA1 ( ELA1 )
Gene Full Name: chymotrypsin-like elastase family, member 1
Band: 12q13.13
Quick LinksEntrez ID:1990; OMIM: 130120; Uniprot ID:CELA1_HUMAN; ENSEMBL ID: ENSG00000139610; HGNC ID: 3308
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1727Pancreas disease
1904Diabetes mellitus
No data
No data
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CELA1 mRNAaffects expression 16483693
C006253 pirinixic acid pirinixic acid results in decreased expression of CELA1 mRNAdecreases expression 20059764
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of CELA1 mRNA]decreases expression|increases reaction 20059764
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CELA1 mRNAdecreases expression 18172886
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5911752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.5116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.5116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.4219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 18850075 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515668235 8697196 12621046 16354765 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema pirinixic acid 8.1812083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.1811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver pirinixic acid 3.2520131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5310048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly pirinixic acid 10.5319176532 18467677 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.5312621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.918697196 15340226 16354765 18606429 16959395
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2412878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.6916377806 15890375 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11222880 11399792 11118676
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01844 - Dimethylformamide
DB02114 - Para-Isopropylaniline
DB02341 - Mdl 101,146
DB03202 - 2-[5-Methanesulfonylamino-2-(4-Aminophenyl)-6-Oxo-1,6-Dihydro-1-Pyrimidinyl]-N-(3,3,3-Trifluoro-1-Isopropyl-2-Oxopropyl)Acetamide
DB03702 - 2-[4-[[(S)-1-[[(S)-2-[[(Rs)-3,3,3-Trifluoro-1-Isopropyl-2-Oxopropyl]Aminocarbonyl]Pyrrolidin-1-Yl-]Carbonyl]-2-Methylpropyl]Aminocarbonyl]Benzoylamino]Acetic Acid Elastase 1 inhibitor
DB03757 - (Tert-Butyloxycarbonyl)-Alanyl-Alanyl-Amine
DB03890 - N-[2-(1-Formyl-2-Methyl-Propyl)-1-(4-Piperidin-1-Yl-but-2-Enoyl)-Pyrrolidin-3-Yl]-Methanesulfonamide Elastase 1 inhibitor
DB03925 - ONO-6818 Elastase 1 inhibitor
DB04184 - Acetate Ion Indicators and Reagents
DB06951 - (3R)-3-ethyl-N-[(4-methylphenyl)sulfonyl]-L-aspartic acid
DB07433 - (TERT-BUTYLOXYCARBONYL)-ALANYL-AMINO ETHYL-FORMAMIDE
DB07955 - (2-BROMOETHYL)(2-'FORMYL-4'-AMINOPHENYL) ACETATE
DB07956 - [1-(3-CHLORO-2-FORMYL-PHENYLCARBAMOYL)-2-METHYL-PROPYL]-CARBAMIC ACID TERT-BUTYL ESTER
DB07957 - METHYL(2-ACETOXY-2-(2-CARBOXY-4-AMINO-PHENYL))ACETATE
DB08007 - (2R)-3-{[(BENZYLAMINO)CARBONYL]AMINO}-2-HYDROXYPROPANOIC ACID
DB08614 - 3-[[(METHYLAMINO)SULFONYL]AMINO]-2-OXO-6-PHENYL-N-[3,3,3-TRIFLUORO-1-(1-METHYLETHYL)-2-OXOPHENYL]-1(2H)-PYRIDINE ACETAMIDE
DB08640 - (2S,3S)-3-FORMYL-2-({[(4-METHYLPHENYL)SULFONYL]AMINO}METHYL)PENTANOIC ACID
DB08641 - (2S,3S)-3-FORMYL-2-({[(4-NITROPHENYL)SULFONYL]AMINO}METHYL)PENTANOIC ACID
No data
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Simple Query:


  (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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