Gene Page: BCKDHB

Summary ?
GeneID594
SymbolBCKDHB
SynonymsBCKDE1B|BCKDH E1-beta|E1B
Descriptionbranched chain keto acid dehydrogenase E1, beta polypeptide
ReferenceMIM:248611|HGNC:HGNC:987|Ensembl:ENSG00000083123|HPRD:02011|Vega:OTTHUMG00000016430
Gene typeprotein-coding
Map location6q14.1
Pascal p-value0.036
Sherlock p-value0.92
eGeneCortex
Hippocampus
Myers' cis & trans

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS

Section I. Genetics and epigenetics annotation

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs3096130chr554364272BCKDHB5940.04trans
rs1876681chr554389397BCKDHB5940.02trans
rs3136556chr554400527BCKDHB5940.04trans
rs3091252chr554402402BCKDHB5940.01trans
rs3091251chr554404917BCKDHB5940.06trans
rs2935260chr554444879BCKDHB5940.04trans
rs2992406chr554444982BCKDHB5940.04trans
rs4546623chr898411165BCKDHB5940.12trans

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
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.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
S100A90.780.58
C1QB0.770.49
RGS10.760.22
S100A80.750.51
MT1M0.730.39
GPR1830.720.26
SERPINA10.700.56
FTL0.690.39
CXorf280.680.36
PLSCR10.680.46
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
HNRNPUL2-0.35-0.39
MYO18A-0.35-0.38
ANKRD11-0.34-0.32
SUPT6H-0.34-0.38
TCOF1-0.34-0.35
ZC3H13-0.34-0.40
HERC1-0.34-0.41
HERC2-0.34-0.37
UPF2-0.33-0.34
GOLGA2-0.33-0.30

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG VALINE LEUCINE AND ISOLEUCINE DEGRADATION 4426All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200136All SZGR 2.0 genes in this pathway
REACTOME BRANCHED CHAIN AMINO ACID CATABOLISM 179All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242165All SZGR 2.0 genes in this pathway
LANDIS BREAST CANCER PROGRESSION DN 7043All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 65 DN 3722All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST PRENEOPLASTIC DN 5533All SZGR 2.0 genes in this pathway
CONCANNON APOPTOSIS BY EPOXOMICIN DN 172112All SZGR 2.0 genes in this pathway
GRAESSMANN APOPTOSIS BY DOXORUBICIN DN 17811082All SZGR 2.0 genes in this pathway
LANDIS ERBB2 BREAST TUMORS 324 DN 14993All SZGR 2.0 genes in this pathway
NUYTTEN NIPP1 TARGETS UP 769437All SZGR 2.0 genes in this pathway
BENPORATH MYC MAX TARGETS 775494All SZGR 2.0 genes in this pathway
STARK PREFRONTAL CORTEX 22Q11 DELETION DN 517309All SZGR 2.0 genes in this pathway
UEDA CENTRAL CLOCK 8862All SZGR 2.0 genes in this pathway
FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN 546351All SZGR 2.0 genes in this pathway
ABBUD LIF SIGNALING 1 DN 2617All SZGR 2.0 genes in this pathway
GERY CEBP TARGETS 12690All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS EARLY PROGENITOR 532309All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY NO BLOOD DN 15093All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 14HR DN 298200All SZGR 2.0 genes in this pathway
RODWELL AGING KIDNEY DN 14588All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 48HR DN 504323All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 6 189112All SZGR 2.0 genes in this pathway
COATES MACROPHAGE M1 VS M2 UP 8152All 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
HAN SATB1 TARGETS UP 395249All SZGR 2.0 genes in this pathway
CROONQUIST NRAS VS STROMAL STIMULATION UP 4126All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 10 6938All SZGR 2.0 genes in this pathway
DUTERTRE ESTRADIOL RESPONSE 24HR DN 505328All SZGR 2.0 genes in this pathway
TORCHIA TARGETS OF EWSR1 FLI1 FUSION DN 321200All SZGR 2.0 genes in this pathway