Summary ?
Descriptionbranched chain ketoacid dehydrogenase kinase
Gene typeprotein-coding
Map location16p11.2
Pascal p-value0.174
Sherlock p-value0.872
Fetal beta-0.643
DMG1 (# studies)

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DMG:Nishioka_2013Genome-wide DNA methylation analysisThe authors investigated the methylation profiles of DNA in peripheral blood cells from 18 patients with first-episode schizophrenia (FESZ) and from 15 normal controls. 1
GSMA_IIEGenome scan meta-analysis (European-ancestry samples)Psr: 0.01775 

Section I. Genetics and epigenetics annotation

@Differentially methylated gene

ProbeChromosomePositionNearest geneP (dis)Beta (dis)FDR (dis)Study

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions

Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0000155two-component sensor activityIEA-
GO:0005515protein bindingIPI17353931 
GO:0005524ATP bindingIEA-
GO:0005524ATP bindingISS-
GO:0004674protein serine/threonine kinase activityISS-
GO:0016301kinase activityIEA-
GO:0047323[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0009083branched chain family amino acid catabolic processISS-
GO:0009083branched chain family amino acid catabolic processTAS11839747 
GO:0007165signal transductionIEA-
GO:0018106peptidyl-histidine phosphorylationIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005759mitochondrial matrixIEA-
GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complexISS-
GO:0005947mitochondrial alpha-ketoglutarate dehydrogenase complexTAS11839747 

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
BCKDHABCKDE1A | FLJ45695 | MSU | MSUD1 | OVD1Abranched chain keto acid dehydrogenase E1, alpha polypeptideAffinity Capture-MSBioGRID17353931 
BCKDHBE1B | FLJ17880 | dJ279A18.1branched chain keto acid dehydrogenase E1, beta polypeptide-HPRD1377677 
CAB39CGI-66 | FLJ22682 | MO25calcium binding protein 39Affinity Capture-MSBioGRID17353931 
CAB39LFLJ12577 | MO25-BETA | MO2L | RP11-103J18.3 | bA103J18.3calcium binding protein 39-likeAffinity Capture-MSBioGRID17353931 
DBTBCATE2 | E2 | E2B | MGC9061dihydrolipoamide branched chain transacylase E2-HPRD1377677 
DLDDLDH | E3 | GCSL | LAD | PHE3dihydrolipoamide dehydrogenase-HPRD15576032 
FAM98BFLJ38426family with sequence similarity 98, member BAffinity Capture-MSBioGRID17353931 
MUTEDDKFZp686E2287 | MUmuted homolog (mouse)-HPRD15102850 
RNF219C13orf7 | DKFZp686A01276 | DKFZp686N15250 | DKFZp686O03173 | FLJ13449 | FLJ25774ring finger protein 219Affinity Capture-MSBioGRID17353931 
RTCD1RPCRNA terminal phosphate cyclase domain 1Affinity Capture-MSBioGRID17353931 
TRAF4CART1 | MLN62 | RNF83TNF receptor-associated factor 4TRAF4 interacts with BCKDK.BIND12023963 

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
GARY CD5 TARGETS UP 473314All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
MOHANKUMAR TLX1 TARGETS UP 414287All SZGR 2.0 genes in this pathway
LU IL4 SIGNALING 9456All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
ACEVEDO LIVER CANCER DN 540340All SZGR 2.0 genes in this pathway
MOOTHA HUMAN MITODB 6 2002 429260All SZGR 2.0 genes in this pathway
MOOTHA MITOCHONDRIA 447277All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 1HR DN 222147All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway