Gene Page:BCKDHB
Summary?
| GeneID | 594 |
| Symbol | BCKDHB |
| Synonyms | BCKDE1B|BCKDH E1-beta|E1B |
| Description | branched chain keto acid dehydrogenase E1, beta polypeptide |
| Reference | MIM:248611|HGNC:HGNC:987|Ensembl:ENSG00000083123|HPRD:02011|Vega:OTTHUMG00000016430 |
| Gene type | protein-coding |
| Map location | 6q14.1 |
| Pascal p-value | 0.036 |
| Sherlock p-value | 0.92 |
| eGene | Cortex Hippocampus Myers' cis & trans |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS |
Section I. Genetics and epigenetics annotation
eQTL annotation
eQTL annotation| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs3096130 | chr5 | 54364272 | BCKDHB | 594 | 0.04 | trans | ||
| rs1876681 | chr5 | 54389397 | BCKDHB | 594 | 0.02 | trans | ||
| rs3136556 | chr5 | 54400527 | BCKDHB | 594 | 0.04 | trans | ||
| rs3091252 | chr5 | 54402402 | BCKDHB | 594 | 0.01 | trans | ||
| rs3091251 | chr5 | 54404917 | BCKDHB | 594 | 0.06 | trans | ||
| rs2935260 | chr5 | 54444879 | BCKDHB | 594 | 0.04 | trans | ||
| rs2992406 | chr5 | 54444982 | BCKDHB | 594 | 0.04 | trans | ||
| rs4546623 | chr8 | 98411165 | BCKDHB | 594 | 0.12 | trans |
Section II. Transcriptome annotation
General gene expression (GTEx)
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
死神:胎儿(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 | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| S100A9 | 0.78 | 0.58 |
| C1QB | 0.77 | 0.49 |
| RGS1 | 0.76 | 0.22 |
| S100A8 | 0.75 | 0.51 |
| MT1M | 0.73 | 0.39 |
| GPR183 | 0.72 | 0.26 |
| SERPINA1 | 0.70 | 0.56 |
| FTL | 0.69 | 0.39 |
| CXorf28 | 0.68 | 0.36 |
| PLSCR1 | 0.68 | 0.46 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson'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 name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| KEGG VALINE LEUCINE AND ISOLEUCINE DEGRADATION | 44 | 26 | All SZGR 2.0 genes in this pathway |
| REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES | 200 | 136 | All SZGR 2.0 genes in this pathway |
| REACTOME BRANCHED CHAIN AMINO ACID CATABOLISM | 17 | 9 | All SZGR 2.0 genes in this pathway |
| DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP | 1382 | 904 | All SZGR 2.0 genes in this pathway |
| MULLIGHAN MLL SIGNATURE 1 DN | 242 | 165 | All SZGR 2.0 genes in this pathway |
| LANDIS BREAST CANCER PROGRESSION DN | 70 | 43 | All SZGR 2.0 genes in this pathway |
| LANDIS ERBB2 BREAST TUMORS 65 DN | 37 | 22 | All SZGR 2.0 genes in this pathway |
| LANDIS ERBB2 BREAST PRENEOPLASTIC DN | 55 | 33 | All SZGR 2.0 genes in this pathway |
| CONCANNON APOPTOSIS BY EPOXOMICIN DN | 172 | 112 | All SZGR 2.0 genes in this pathway |
| GRAESSMANN APOPTOSIS BY DOXORUBICIN DN | 1781 | 1082 | All SZGR 2.0 genes in this pathway |
| LANDIS ERBB2 BREAST TUMORS 324 DN | 149 | 93 | All SZGR 2.0 genes in this pathway |
| NUYTTEN NIPP1 TARGETS UP | 769 | 437 | All SZGR 2.0 genes in this pathway |
| BENPORATH MYC MAX TARGETS | 775 | 494 | All SZGR 2.0 genes in this pathway |
| STARK PREFRONTAL CORTEX 22Q11 DELETION DN | 517 | 309 | All SZGR 2.0 genes in this pathway |
| UEDA CENTRAL CLOCK | 88 | 62 | All SZGR 2.0 genes in this pathway |
| FLECHNER BIOPSY KIDNEY TRANSPLANT REJECTED VS OK DN | 546 | 351 | All SZGR 2.0 genes in this pathway |
| ABBUD LIF SIGNALING 1 DN | 26 | 17 | All SZGR 2.0 genes in this pathway |
| GERY CEBP TARGETS | 126 | 90 | All SZGR 2.0 genes in this pathway |
| IVANOVA HEMATOPOIESIS EARLY PROGENITOR | 532 | 309 | All SZGR 2.0 genes in this pathway |
| RODWELL AGING KIDNEY NO BLOOD DN | 150 | 93 | All SZGR 2.0 genes in this pathway |
| BROWNE HCMV INFECTION 14HR DN | 298 | 200 | All SZGR 2.0 genes in this pathway |
| RODWELL AGING KIDNEY DN | 145 | 88 | All SZGR 2.0 genes in this pathway |
| BROWNE HCMV INFECTION 48HR DN | 504 | 323 | All SZGR 2.0 genes in this pathway |
| BURTON ADIPOGENESIS 6 | 189 | 112 | All SZGR 2.0 genes in this pathway |
| COATES MACROPHAGE M1 VS M2 UP | 81 | 52 | All SZGR 2.0 genes in this pathway |
| MOOTHA HUMAN MITODB 6 2002 | 429 | 260 | All SZGR 2.0 genes in this pathway |
| MOOTHA MITOCHONDRIA | 447 | 277 | All SZGR 2.0 genes in this pathway |
| HAN SATB1 TARGETS UP | 395 | 249 | All SZGR 2.0 genes in this pathway |
| CROONQUIST NRAS VS STROMAL STIMULATION UP | 41 | 26 | All SZGR 2.0 genes in this pathway |
| DANG BOUND BY MYC | 1103 | 714 | All SZGR 2.0 genes in this pathway |
| YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 10 | 69 | 38 | All SZGR 2.0 genes in this pathway |
| DUTERTRE ESTRADIOL RESPONSE 24HR DN | 505 | 328 | All SZGR 2.0 genes in this pathway |
| TORCHIA TARGETS OF EWSR1 FLI1 FUSION DN | 321 | 200 | All SZGR 2.0 genes in this pathway |