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mutLBSgeneDB |
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| Gene summary for BCKDHB |
 Gene summary |
| Basic gene Info. | Gene symbol | BCKDHB |
| Gene name | branched chain keto acid dehydrogenase E1, beta polypeptide | |
| Synonyms | E1B|dJ279A18.1 | |
| Cytomap | UCSC genome browser: 6q14.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000056.3, NM_183050.2, | |
| Description | 2-oxoisovalerate dehydrogenase beta subunit2-oxoisovalerate dehydrogenase subunit beta, mitochondrialBCKDE1BBCKDH E1-betaE1b-beta subunit of the branched-chain complexbranched chain alpha-ketoacid dehydrogenase E1-beta subunitbranched-chain alpha-ke | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 248611 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000083123 | ||
| HPRD : 02011 | ||
| Vega : OTTHUMG00000016430 | ||
| Protein | UniProt: P21953 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BCKDHB | |
| BioGPS: 594 | ||
| Pathway | NCI Pathway Interaction Database: BCKDHB | |
| KEGG: BCKDHB | ||
| REACTOME: BCKDHB | ||
| Pathway Commons: BCKDHB | ||
| Context | iHOP: BCKDHB | |
| ligand binding site mutation search in PubMed: BCKDHB | ||
| UCL Cancer Institute: BCKDHB | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for BCKDHB |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N233,D231 | K232E | GBM | 1 | C228 | S227L | LUAD | 1 | H196 | H196P | LUAD | 1 | E96 | G95C | SKCM | 1 | I229,D231 | E230D | UCEC | 1 | L124 | P123S | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for BCKDHB |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | L124 | P123S | -1.3758258 | D231 | E230D | -1.287537 | I229 | E230D | -1.287537 | E96 | G95C | -0.7106806 | C228 | S227L | -0.48136202 | H196 | H196P | -0.44509784 | N233 | K232E | -0.37094761 | D231 | K232E | -0.37094761 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for BCKDHB from PDB |
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| Differential gene expression and gene-gene network for BCKDHB |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for BCKDHB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0024776 | Maple Syrup Urine Disease | 10 | AlteredExpression, Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for BCKDHB |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of BCKDHB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of BCKDHB |
| Multiple alignments for P21953 in multiple species |
| LBS | AA sequence | # species | Species | C228 | GLLLSCIEDKN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C228 | GLLLSSIRDPN | 1 | Arabidopsis thaliana | C235 | EDKNPCIFFEP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C235 | RDPNPVVFFEP | 1 | Arabidopsis thaliana | D231 | LSCIEDKNPCI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D231 | LSSIRDPNPVV | 1 | Arabidopsis thaliana | E126 | NTPLCEQGIVG | 5 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus | E96 | AVIFGEDVAFG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E96 | SYVFGEDVGFG | 1 | Arabidopsis thaliana | G178 | DLFNCGSLTIR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G178 | NQFNCGGLTIR | 1 | Arabidopsis thaliana | H196 | HGALYHSQSPE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H196 | HGGHYHSQSPE | 1 | Arabidopsis thaliana | I229 | LLLSCIEDKNP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I229 | LLLSSIRDPNP | 1 | Arabidopsis thaliana | L124 | VFNTPLCEQGI | 5 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus | L180 | FNCGSLTIRSP | 2 | Homo sapiens, Bos taurus | L180 | FNCGSLTIRAP | 2 | Mus musculus, Rattus norvegicus | L180 | FNCGGLTIRAP | 1 | Arabidopsis thaliana | N233 | CIEDKNPCIFF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N233 | SIRDPNPVVFF | 1 | Arabidopsis thaliana | P234 | IEDKNPCIFFE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P234 | IRDPNPVVFFE | 1 | Arabidopsis thaliana | Q148 | AIAEIQFADYI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q148 | VIAEIQFADYI | 1 | Arabidopsis thaliana | S179 | LFNCGSLTIRS | 2 | Homo sapiens, Bos taurus | S179 | LFNCGSLTIRA | 2 | Mus musculus, Rattus norvegicus | S179 | QFNCGGLTIRA | 1 | Arabidopsis thaliana | T181 | NCGSLTIRSPW | 2 | Homo sapiens, Bos taurus | T181 | NCGSLTIRAPW | 2 | Mus musculus, Rattus norvegicus | T181 | NCGGLTIRAPY | 1 | Arabidopsis thaliana | Y152 | IQFADYIFPAF | 5 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus, Bos taurus |
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