AutismKB 2.0

Annotation Detail for TUBB2C


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Basic Information Top
Gene Symbol:TUBB2C ( TUBB2 )
Gene Full Name: tubulin, beta 2C
Band: 9q34
Quick LinksEntrez ID:10383; OMIM: 602660; Uniprot ID:TBB2C_HUMAN; ENSEMBL ID: ENSG00000188229; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
51Phosphotyrosine (By similarity).
55Phosphothreonine.
58N6-acetyllysine.
172Phosphoserine.
322Phosphoserine.
Location(AA) Modifications Resource
172Phosphoserine.Swiss-Prot 53.0
Location(AA) Modification Resource
172Phosphoserine(CDC2)HMM predict
176O-linkedHMM predict
184N-linkedHMM predict
222Phosphotyrosine(SRC)HMM predict
234Phosphoserine(IKK)HMM predict
275O-linkedHMM predict
281Phosphotyrosine(EGFR)HMM predict
285Phosphothreonine(PKC)HMM predict
312Phosphothreonine(PKC)HMM predict
322Phosphoserine(PKG)HMM predict
337N-linkedHMM predict
370N-linkedHMM predict
409Phosphothreonine(CK2)HMM predict
425Phosphotyrosine(SRC)HMM predict
425Phosphotyrosine(Syk)HMM predict
429PhosphothreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006088
  • Location:chr9 139255531-139257979
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 139254498 139255771 1273 397
NFkBII GM15510GSE19485 139254239 139256176 1937 324
P300 T0-glioblastomaGSE21026 139254830 139255758 928 238
P300 T30-glioblastomaGSE21026 139254217 139256204 1987 321
PHF8 293TGSE20725 139254310 139255909 1599 422
PHF8 HeLaGSE20725 139254063 139256634 2571 183
VDR GM10861-UnstimGSE22484 139254199 139256124 1925 370
VDR GM10861-stimGSE22484 139254368 139256074 1706 311
p130 QuiescentGSE19898 139254454 139254719 265 945
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
p130 SenescentGSE19898 139256418 139256836 418 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
27267 mRNA TUBB2 chr9 137411612 137413996 123 mRNA LOC401565 chr9 137413873 137418059Sense/Antisense (SA) pairs

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


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