AutismKB 2.0

Annotation Detail for SEPN1


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Basic Information Top
Gene Symbol:SEPN1 ( FLJ24021,MDRS1,RSMD1,RSS,SELN )
Gene Full Name: selenoprotein N, 1
Band: 1p36.13
Quick LinksEntrez ID:57190; OMIM: 606210; Uniprot ID:SELN_HUMAN; ENSEMBL ID: ENSG00000162430; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1746Hypertension, Pulmonary
2115Muscular dystrophies
No data
No data
Desease Name
Muscular dystrophy, rigid spine, 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of SEPN1 mRNAincreases expression 16788091
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SEPN1 mRNAincreases expression 18648102
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SEPN1 mRNAdecreases expression 18495758
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5914514962 15322242 11752688
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.983712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.891440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
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:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.787296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.847296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5816120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.057505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.4719486331 9022650
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2516354765 12621046 15668235 15340226 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.4412868966 14531868 2524372 11298694 18759878 11906362 8156756 8970840
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.022952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.039653073 18289764 6482804 9328219 8291058 7440962 18648102 1440618 9022650 16192314 11289319 18692083 6679447
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.896705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.577505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.106705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9115340226 18606429 8697196 16959395 16354765
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5915034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.898074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.356582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.449327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.586587162 598648 3712494 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5812151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D009136 Muscular Dystrophies marker/mechanism 17123513
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.613581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.186679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.874026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.893988306
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.137296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.346228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311222880 11896295 11399792 11118676
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.703692021
OMIM:602771 RIGID SPINE MUSCULAR DYSTROPHY 1 marker/mechanism
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.226587162 1399818 3712494 7505956 6582329
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.418074119
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
No data
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Syndromic Genes

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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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