AutismKB 2.0

Annotation Detail for SEPT1


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Basic Information Top
Gene Symbol:SEPT1 ( DIFF6,LARP,MGC20394,PNUTL3,SEP1 )
Gene Full Name: septin 1
Band: 16p11.2
Quick LinksEntrez ID:1731; OMIM: 612897; Uniprot ID:SEPT1_HUMAN; ENSEMBL ID: ENSG00000180096; HGNC ID: 2879
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05100Bacterial invasion of epithelial cells
No data
Pathway IDPathway Name
200010Aurora B signaling
Pathway IDPathway Name
P00049Parkinson disease
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015741 Metribolone Metribolone results in increased expression of SEPT1 mRNAincreases expression 17010196
C017947 sodium arsenite sodium arsenite results in increased expression of SEPT1 mRNAincreases expression 16014739
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.7715276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.9717306315 16712894
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 2.0117306315 15276417 16507464
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4818572023
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.3120056578 19524636
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.5716452187
MESH:D006689 Hodgkin Disease sodium arsenite 3.6212676792
MESH:D007248 Infertility, Male sodium arsenite 3.2915346721 12646999
MESH:D007674 Kidney Diseases sodium arsenite 3.0420008137
MESH:D008113 Liver Neoplasms sodium arsenite 2.5116712894 15276417
MESH:D008171 Lung Diseases sodium arsenite 3.4819095001
MESH:D008175 Lung Neoplasms sodium arsenite 1.9017077188 19931552 15276417 17306315 16712894
MESH:D008545 Melanoma sodium arsenite 2.0819082730 16487513
MESH:D009369 Neoplasms sodium arsenite 2.6911559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.4320056578
MESH:D009436 Neural Tube Defects sodium arsenite 3.4412854658
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.5415276417 17306315
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.2316039940
MESH:D012878 Skin Neoplasms sodium arsenite 2.8818572023 19524636
MESH:D016135 Spinal Dysraphism sodium arsenite 4.1812854658
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.6511723127 17306315 16712894 16452187
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.2711813266
MESH:D014652 Vascular Diseases sodium arsenite 5.3117056641
Pathway ID Pathway Name
KEGG:05100 Bacterial invasion of epithelial cells
Pharmacogenomics Knowledge Base 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


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