AutismKB 2.0

Annotation Detail for TUBA1B


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Basic Information Top
Gene Symbol:TUBA1B ( K-ALPHA-1 )
Gene Full Name: tubulin, alpha 1b
Band: 12q13.12
Quick LinksEntrez ID:10376; OMIM: 602530; Uniprot ID:TBA1B_HUMAN; ENSEMBL ID: ENSG00000123416; HGNC ID: 18809
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
40N6-acetyllysine (By similarity).
41Phosphothreonine.
48Phosphoserine.
232Phosphoserine.
272Phosphotyrosine.
334Phosphothreonine.
339Omega-N-methylarginine.
340Phosphoserine.
432Phosphotyrosine.
439Phosphoserine.
451Phosphotyrosine.
Location(AA) Modifications Resource
272Phosphotyrosine.Swiss-Prot 53.0
Location(AA) Modification Resource
38Phosphoserine(ATM)HMM predict
82Phosphothreonine(PKC)HMM predict
94Phosphothreonine(CK2)HMM predict
165Phosphoserine(PKG)HMM predict
178O-linkedHMM predict
179O-linkedHMM predict
179O-linkedHMM predict
224Phosphotyrosine(INSR)HMM predict
277O-linkedHMM predict
337Phosphothreonine(PKC)HMM predict
380N-linkedHMM predict
432Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006082
  • Location:chr12 47807832-47811570
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47825332 47825509 177 13850
Fos K562GSE19551 47818604 47819171 567 7317
RARA MCF7GSE15244 47811870 47812294 424 512
TAF HelaGSE8489 47811775 47812329 554 482
TAF k562GSE8489 47811702 47812674 972 618
hScc1 CdLSGSE12603 47811453 47811870 417 91
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47801058 47801724 666 6442
TAFII hESGSE17917 47801206 47801511 305 6474
VDR GM10855-UnstimGSE22484 47805530 47808291 2761 922
VDR GM10855-stimGSE22484 47805735 47808190 2455 870
VDR GM10861-UnstimGSE22484 47805385 47808382 2997 949
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47808205 47808757 552 0
CTCF G2GSE9613 47809484 47811702 2218 0
LIN9 SGSE7516 47810756 47811258 502 0
PHF8 HeLaGSE20725 47810119 47812260 2141 0
PHF8 Hs68minusFBSGSE20725 47810862 47812235 1373 0
Pol2 GM12878GSE19551 47809732 47811860 2128 0
RARA MCF7GSE15244 47810046 47810756 710 0
Rb GrowingGSE19898 47810783 47811136 353 0
Rb GrowingGSE19898 47811149 47811333 184 0
Rb QuiescentGSE19898 47810251 47811547 1296 0
Rb SenescentGSE19898 47810244 47811263 1019 0
Rb shRbQuiescentGSE19898 47810743 47811055 312 0
Rb shRbSenescenceGSE19898 47810335 47811108 773 0
hScc1 CdLSGSE12603 47810290 47811050 760 0
hScc1 G2GSE9613 47809451 47809805 354 0
p130 QuiescentGSE19898 47810326 47811074 748 0
p130 SenescentGSE19898 47810333 47811325 992 0
p130 shRbQuiescentGSE19898 47810353 47811479 1126 0
p130 shRbSenescentGSE19898 47810128 47811416 1288 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