AutismKB 2.0

Annotation Detail for TBL2


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Basic Information Top
Gene Symbol:TBL2 ( DKFZp434N024,MGC134739,WBSCR13,WS-betaTRP )
Gene Full Name: transducin (beta)-like 2
Band: 7q11.23
Quick LinksEntrez ID:26608; OMIM: 605842; Uniprot ID:TBL2_HUMAN; ENSEMBL ID: ENSG00000106638; HGNC ID: 11586
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
314N6-acetyllysine.
315N6-acetyllysine.
433Phosphothreonine; by ATM or ATR.
Location(AA) Modifications Resource
Location(AA) Modification Resource
76N-linkedHMM predict
179Phosphothreonine(MAPK)HMM predict
179O-linkedHMM predict
211O-linkedHMM predict
231N-linkedHMM predict
232N-linkedHMM predict
296Phosphoserine(CAMK2)HMM predict
296Phosphoserine(PKG)HMM predict
298Phosphoserine(IKK)HMM predict
312SulfotyrosineHMM predict
340Phosphoserine(MAPK)HMM predict
421N-linkedHMM predict
438Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012453
  • Location:chr7 72621209-72630948
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 72630915 72631312 397 165
CTCF CD4SISSRdata 72630915 72631312 397 165
CTCF G2GSE9613 72634194 72634334 140 3316
Rb QuiescentGSE19898 72630967 72631481 514 276
Rb SenescentGSE19898 72630928 72631797 869 414
Rb shRbSenescenceGSE19898 72631070 72631326 256 250
TAFII hESGSE17917 72630707 72631439 732 125
p130 QuiescentGSE19898 72631061 72631371 310 268
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 72622588 72623068 480 0
CTCF G2GSE9613 72625061 72625353 292 0
CTCF G2GSE9613 72630497 72631337 840 0
H3K4me2 HCT116GSE10453 72628815 72629184 369 0
H3ac HepG2E 72628815 72629184 369 0
NFkBII GM12892GSE19485 72629862 72631667 1805 0
PHF8 HeLaGSE20725 72630129 72631413 1284 0
PHF8 Hs68plusFBSGSE20725 72629888 72631315 1427 0
Pol2 GM12878GSE19551 72630255 72631470 1215 0
hScc1 BcellGSE12603 72630497 72630963 466 0
p130 SenescentGSE19898 72630321 72630658 337 0
p130 shRbSenescentGSE19898 72630722 72630842 120 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