AutismKB 2.0

Annotation Detail for BCKDHB


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BCKDHB ( E1B,FLJ17880,dJ279A18.1 )
Gene Full Name: branched chain keto acid dehydrogenase E1, beta polypeptide
Band: 6q14.1
Quick LinksEntrez ID:594; OMIM: 248611; Uniprot ID:ODBB_HUMAN; ENSEMBL ID: ENSG00000083123; HGNC ID: 987
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
241N6-acetyllysine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
41Phosphothreonine(PKC)HMM predict
65Phosphotyrosine(SRC)HMM predict
65Phosphotyrosine(Abl)HMM predict
65SulfotyrosineHMM predict
152SulfotyrosineHMM predict
197Phosphoserine(ATM)HMM predict
217Phosphoserine(CDC2)HMM predict
279Phosphothreonine(PKC)HMM predict
342Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000056
  • Location:chr6 80873082-81112708
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 80860507 80860833 326 12413
CTCF CD4SISSRdata 80860507 80860833 326 12413
TFAP2C MCF7GSE21234 80872569 80873212 643 192
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 81116486 81116527 41 3798
Oct1 H2O2-HelaGSE14283 81121805 81121845 40 9117
Oct1 HelaGSE14283 81116487 81116527 40 3799
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 80899516 80899633 117 0
CTCF CD4GSE12889 80980847 80981224 377 0
CTCF CD4GSE12889 81104747 81104955 208 0
CTCF CD4SISSRdata 80899516 80899633 117 0
CTCF CD4SISSRdata 80980847 80981224 377 0
CTCF CD4SISSRdata 81104747 81104955 208 0
CTCF JurkatGSE12889 80980960 80981164 204 0
CTCF G2GSE9613 80872889 80873540 651 0
CTCF G2GSE9613 80899534 80899785 251 0
CTCF G2GSE9613 81104662 81105058 396 0
Fos K562GSE19551 80872787 80873377 590 0
H3ac HepG2E 80874166 80874382 216 0
Myc K562GSE19551 80899437 80899742 305 0
Oct1 H2O2-HelaGSE14283 81107188 81107228 40 0
Oct1 H2O2-HelaGSE14283 81112213 81112239 26 0
Oct1 HelaGSE14283 80959649 80959724 75 0
Oct1 HelaGSE14283 81107188 81107228 40 0
Oct1 HelaGSE14283 81112208 81112240 32 0
P300 T30-glioblastomaGSE21026 80894821 80895448 627 0
PHF8 HeLaGSE20725 80872574 80873595 1021 0
RARA MCF7GSE15244 80909813 80910287 474 0
Rb GrowingGSE19898 80921897 80922076 179 0
TFAP2C MCF7GSE21234 80873278 80873726 448 0
TFAP2C MCF7GSE21234 80889136 80889444 308 0
hScc1 BcellGSE12603 80873326 80873476 150 0
hScc1 CdLSGSE12603 80980538 80981251 713 0
hScc1 CdLSGSE12603 81104545 81105058 513 0
hScc1 G2GSE9613 80899499 80899856 357 0
hScc1 G2GSE9613 81104662 81105090 428 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
1139 Unknown pSILAC miR-1 BCKDHB down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000083123 n_a n_a n_a "epithelium, lymphocyte" "tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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