AutismKB 2.0

Annotation Detail for SF3B3


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Basic Information Top
Gene Symbol:SF3B3 ( KIAA0017,RSE1,SAP130,SF3b130,STAF130 )
Gene Full Name: splicing factor 3b, subunit 3, 130kDa
Band: 16q22.1
Quick LinksEntrez ID:23450; OMIM: 605592; Uniprot ID:SF3B3_HUMAN; ENSEMBL ID: ENSG00000189091; HGNC ID: 10770
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
109N6-acetyllysine.
126N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
21N-linkedHMM predict
153Phosphothreonine(PKC)HMM predict
156Phosphoserine(CDC2)HMM predict
189Phosphotyrosine(Syk)HMM predict
242O-linkedHMM predict
424Phosphotyrosine(Jak)HMM predict
450Phosphoserine(PKG)HMM predict
480N-linkedHMM predict
503O-linkedHMM predict
538Phosphothreonine(CDC2)HMM predict
639Phosphoserine(IKK)HMM predict
807Phosphotyrosine(Syk)HMM predict
995Phosphothreonine(PKC)HMM predict
1034Phosphothreonine(PKA)HMM predict
1034Phosphothreonine(PKC)HMM predict
1041Phosphotyrosine(INSR)HMM predict
1200Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012426
  • Location:chr16 69115201-69163700
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 293TGSE20725 69114300 69115916 1616 94
PHF8 HeLaGSE20725 69114337 69115927 1590 70
PHF8 Hs68plusFBSGSE20725 69114345 69115970 1625 44
Rb SenescentGSE19898 69114485 69115669 1184 125
p130 shRbSenescentGSE19898 69114467 69115877 1410 30
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 69168275 69169414 1139 5144
CTCF G2GSE9613 69166919 69167187 268 3353
P300 T30-glioblastomaGSE21026 69167548 69169326 1778 4737
hScc1 BcellGSE12603 69166919 69167220 301 3369
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 69120869 69121184 315 0
CTCF CD4SISSRdata 69120869 69121184 315 0
H3K4me3 colorectalcancer 69115315 69115876 561 0
H3ac HepG2E 69116750 69117063 313 0
NRSF mAbJurkat 69115284 69115876 592 0
P300 T30-glioblastomaGSE21026 69144684 69145532 848 0
RARA MCF7GSE15244 69115284 69115876 592 0
TAF HelaGSE8489 69117879 69119087 1208 0
TAF HelaGSE8489 69142600 69142782 182 0
TAF k562GSE8489 69116750 69117063 313 0
TAF k562GSE8489 69117579 69119087 1508 0
TFAP2C MCF7GSE21234 69152817 69153406 589 0
p130 QuiescentGSE19898 69115145 69115415 270 0
p130 shRbQuiescentGSE19898 69115155 69115799 644 0
Validated miRNA targets Top
Cis-Nats regulation 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