AutismKB 2.0

Annotation Detail for SF3B2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SF3B2 ( Cus1,SAP145,SF3B145,SF3b1,SF3b150 )
Gene Full Name: splicing factor 3b, subunit 2, 145kDa
Band: 11q13.1
Quick LinksEntrez ID:10992; OMIM: 605591; Uniprot ID:SF3B2_HUMAN; ENSEMBL ID: ENSG00000087365; HGNC ID: 10769
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03040Spliceosome
Pathway IDPathway Name
mRNA Processing
Gene Expression
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SF3B2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SF3B2 mRNAaffects expression 21346803
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in decreased expression of SF3B2 mRNAdecreases expression 17616710
C025643 vinclozolin vinclozolin affects the expression of SF3B2 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001008 Anxiety Disorders vinclozolin 3.9719015723
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1016705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1016705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.036135515
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.7520423518
MESH:D003456 Cryptorchidism vinclozolin 4.8514966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.8318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.8318551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.1618551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.1621346803 18551238
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.5716973722
MESH:D005832 Genital Diseases, Male vinclozolin 6.0216417039
MESH:D007248 Infertility, Male vinclozolin 3.2916467254
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.5316705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.5316705839
MESH:D007984 Leydig Cell Tumor vinclozolin 5.3616417039
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.277678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.776135515 2876786 2876784
MESH:D009336 Necrosis 2,4-dinitrotoluene 12.5418551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 12.5418551238 7678174
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.2312819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.2316049721
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.5318220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.5718220299
MESH:D011472 Prostatitis vinclozolin 5.5718629315
MESH:D012640 Seizures 2,4-dinitrotoluene 6.7418551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.7418551238
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 5.5715864552
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.4316049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.4316049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 14.1910091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 14.1910091137
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
KEGG:03040 Spliceosome
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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