AutismKB 2.0

Annotation Detail for SPECC1L


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Basic Information Top
Gene Symbol:SPECC1L ( CYTSA,KIAA0376 )
Gene Full Name: sperm antigen with calponin homology and coiled-coil domains 1-like
Band: 22q11.23
Quick LinksEntrez ID:23384; OMIM: NA; Uniprot ID:CYTSA_HUMAN; ENSEMBL ID: ENSG00000100014; HGNC ID: 29022
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SPECC1L mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.8118653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.5716434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7719483382
MESH:D002779 Cholestasis pirinixic acid 3.2319176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6218249437
MESH:D004487 Edema pirinixic acid 3.1012083418
MESH:D005234 Fatty Liver pirinixic acid 3.3920131406 19236843
MESH:D006333 Heart Failure pirinixic acid 2.8320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.9019772884 18467677 19176532 16221962
MESH:D006943 Hyperglycemia pirinixic acid 3.7620558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9616306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9715890375 16377806 20007298
MESH:D009135 Muscular Diseases pirinixic acid 4.4116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3119151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3716411023
MESH:D009369 Neoplasms pirinixic acid 2.1617405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D015427 Reperfusion Injury pirinixic acid 2.6019058328
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA164718673
  • No data
    Releated disease ID Related disease Name
    PA445451Psoriasis
    PA443434Arthritis, Rheumatoid
    PA443937Drug Toxicity
    Releated drug ID Related drug Name
    PA450428methotrexate
    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