AutismKB 2.0

Annotation Detail for BCKDK


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Basic Information Top
Gene Symbol:BCKDK ( - )
Gene Full Name: branched chain ketoacid dehydrogenase kinase
Band: 16p11.2
Quick LinksEntrez ID:10295; OMIM: NA; Uniprot ID:BCKD_HUMAN; ENSEMBL ID: ENSG00000103507; HGNC ID: 16902
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
31Phosphoserine.
33Phosphoserine.
35Phosphothreonine (By similarity).
52Phosphoserine; by autocatalysis (By
184N6-acetyllysine.
192N6-acetyllysine.
233N6-acetyllysine.
245N6-acetyllysine.
Location(AA) Modifications Resource
31Phosphoserine (By similarity).Swiss-Prot 53.0
35Phosphothreonine (By similarity).Swiss-Prot 53.0
52Phosphoserine (by autocatalysis) (Bysimilarity).Swiss-Prot 53.0
Location(AA) Modification Resource
32Phosphothreonine(PKA)HMM predict
33Phosphoserine(IKK)HMM predict
33Phosphoserine(PKB)HMM predict
47Phosphoserine(CK1)HMM predict
51O-linkedHMM predict
52Phosphoserine(PKC)HMM predict
119N-linkedHMM predict
226Phosphoserine(CDC2)HMM predict
271Phosphotyrosine(INSR)HMM predict
293Phosphotyrosine(Syk)HMM predict
340O-linkedHMM predict
372Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005881
  • Location:chr16 31027248-31031419
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 31024556 31024759 203 2591
CTCF CD4SISSRdata 31024556 31024759 203 2591
CTCF G2GSE9613 31024565 31025010 445 2461
H3ac HepG2E 31026255 31026657 402 793
Myc K562GSE19551 31024551 31025051 500 2448
VDR GM10861-stimGSE22484 31024401 31025207 806 2445
hScc1 BcellGSE12603 31024565 31024899 334 2517
hScc1 CdLSGSE12603 31024565 31024756 191 2588
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 31026968 31028086 1118 0
ETS1 JurkatGSE17954 31026807 31027775 968 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