AutismKB 2.0

Annotation Detail for PACSIN1


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Basic Information Top
Gene Symbol:PACSIN1 ( KIAA1379,SDPI )
Gene Full Name: protein kinase C and casein kinase substrate in neurons 1
Band: 6p21.3
Quick LinksEntrez ID:29993; OMIM: 606512; Uniprot ID:PACN1_HUMAN; ENSEMBL ID: ENSG00000124507; HGNC ID: 8570
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00029Huntington disease
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PACSIN1 mRNAaffects expression 16483693
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PACSIN1 mRNAaffects binding|increases activity|increases expression 19710929
C025643 vinclozolin vinclozolin affects the expression of PACSIN1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D001008 Anxiety Disorders vinclozolin 4.0019015723
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D003456 Cryptorchidism vinclozolin 4.9314966744
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D005234 Fatty Liver pirinixic acid 3.2519236843 20131406
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.6816973722
MESH:D005832 Genital Diseases, Male vinclozolin 6.1716417039
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006529 Hepatomegaly pirinixic acid 3.6418467677 19772884 16221962 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D007248 Infertility, Male vinclozolin 3.3216467254
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007984 Leydig Cell Tumor vinclozolin 5.4716417039
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9420007298 15890375 16377806
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.6419015723 18220299 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.6818220299
MESH:D011472 Prostatitis vinclozolin 5.6818629315
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
No data
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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