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mutLBSgeneDB |
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| Gene summary for BCKDHA |
 Gene summary |
| Basic gene Info. | Gene symbol | BCKDHA |
| Gene name | branched chain keto acid dehydrogenase E1, alpha polypeptide | |
| Synonyms | BCKDE1A|MSU|MSUD1|OVD1A | |
| Cytomap | UCSC genome browser: 19q13.1-q13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000709.3, NM_001164783.1, | |
| Description | 2-oxoisovalerate dehydrogenase (lipoamide)2-oxoisovalerate dehydrogenase subunit alpha, mitochondrialBCKDH E1-alphabranched-chain alpha-keto acid dehydrogenase E1 component alpha chain | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 608348 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000248098 | ||
| HPRD : 02009 | ||
| Vega : OTTHUMG00000168128 | ||
| Protein | UniProt: P12694 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BCKDHA | |
| BioGPS: 593 | ||
| Pathway | NCI Pathway Interaction Database: BCKDHA | |
| KEGG: BCKDHA | ||
| REACTOME: BCKDHA | ||
| Pathway Commons: BCKDHA | ||
| Context | iHOP: BCKDHA | |
| ligand binding site mutation search in PubMed: BCKDHA | ||
| UCL Cancer Institute: BCKDHA | ||
| 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 | GO:0009083 | branched-chain amino acid catabolic process | 7883996 |
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| Ligand binding site mutations for BCKDHA |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | T211 | T211M | 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 BCKDHA |
| 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 | T211 | T211M | -0.62200502 |
| (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 BCKDHA from PDB |
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| Differential gene expression and gene-gene network for BCKDHA |
| 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 BCKDHA |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0024776 | Maple Syrup Urine Disease | 18 | AlteredExpression, Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 99272 | T211M | Pathogenic | Germline | GeneReviews:NBK1319 MedGen:C0024776 OMIM:248600 Orphanet:ORPHA511 SNOMED CT:27718001 MedGen:CN221809 |
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| Pharmacological information for BCKDHA |
| 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 BCKDHA 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 BCKDHA |
| Multiple alignments for P12694 in multiple species |
| LBS | AA sequence | # species | Species | A210 | ISSPLATQIPQ | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | A210 | VSATIATQLPN | 1 | Arabidopsis thaliana | A210 | ISSPLTTQLPQ | 1 | Caenorhabditis elegans | A240 | YFGEGAASEGD | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | A240 | YFGDGGTSEGD | 1 | Arabidopsis thaliana | A240 | YFGDGAASEGD | 1 | Caenorhabditis elegans | A270 | RNNGYAISTPT | 5 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Rattus norvegicus, Pan troglodytes | A270 | RNNGWAISTPT | 1 | Arabidopsis thaliana | D340 | HHSTSDDSSAY | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | D340 | HHSTSDDSTRY | 1 | Arabidopsis thaliana | D340 | HHSTSDDSTAY | 1 | Caenorhabditis elegans | E238 | ICYFGEGAASE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | E238 | VTYFGDGGTSE | 1 | Arabidopsis thaliana | E238 | VVYFGDGAASE | 1 | Caenorhabditis elegans | E243 | EGAASEGDAHA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | E243 | DGGTSEGDFHA | 1 | Arabidopsis thaliana | E243 | DGAASEGDAHA | 1 | Caenorhabditis elegans | F130 | QGRISFYMTNY | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | F130 | QGRLSFYATAI | 1 | Arabidopsis thaliana | F130 | QGRISFYMTSF | 1 | Caenorhabditis elegans | G156 | TDLVFGQYREA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | G156 | QDVIFPQYREP | 1 | Arabidopsis thaliana | G156 | QDLIYGQYREA | 1 | Caenorhabditis elegans | G237 | VICYFGEGAAS | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | G237 | AVTYFGDGGTS | 1 | Arabidopsis thaliana | G237 | AVVYFGDGAAS | 1 | Caenorhabditis elegans | G239 | CYFGEGAASEG | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | G239 | TYFGDGGTSEG | 1 | Arabidopsis thaliana | G239 | VYFGDGAASEG | 1 | Caenorhabditis elegans | H194 | RQMPVHYGCKE | 3 | Homo sapiens, Rattus norvegicus, Pan troglodytes | H194 | RQMPVHYGSNK | 1 | Arabidopsis thaliana | H194 | RQMPMHFGTKE | 1 | Caenorhabditis elegans | H194 | RQMPVHYGCRE | 1 | Bos taurus | H336 | YRIGHHSTSDD | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | H336 | YRVGHHSTSDD | 1 | Arabidopsis thaliana | H336 | YRLGHHSTSDD | 1 | Caenorhabditis elegans | I271 | NNGYAISTPTS | 5 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Rattus norvegicus, Pan troglodytes | I271 | NNGWAISTPTS | 1 | Arabidopsis thaliana | L209 | TISSPLATQIP | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | L209 | TVSATIATQLP | 1 | Arabidopsis thaliana | L209 | TISSPLTTQLP | 1 | Caenorhabditis elegans | M132 | RISFYMTNYGE | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | M132 | RLSFYATAIGE | 1 | Arabidopsis thaliana | M132 | RISFYMTSFGE | 1 | Caenorhabditis elegans | M191 | GKGRQMPVHYG | 5 | Homo sapiens, Arabidopsis thaliana, Bos taurus, Rattus norvegicus, Pan troglodytes | M191 | GKGRQMPMHFG | 1 | Caenorhabditis elegans | N267 | FFCRNNGYAIS | 5 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Rattus norvegicus, Pan troglodytes | N267 | FICRNNGWAIS | 1 | Arabidopsis thaliana | P208 | VTISSPLATQI | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | P208 | FTVSATIATQL | 1 | Arabidopsis thaliana | P208 | VTISSPLTTQL | 1 | Caenorhabditis elegans | Q157 | DLVFGQYREAG | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | Q157 | DVIFPQYREPG | 1 | Arabidopsis thaliana | Q157 | DLIYGQYREAG | 1 | Caenorhabditis elegans | Q212 | SPLATQIPQAV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | Q212 | ATIATQLPNAV | 1 | Arabidopsis thaliana | Q212 | SPLTTQLPQAV | 1 | Caenorhabditis elegans | R159 | VFGQYREAGVL | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | R159 | IFPQYREPGVL | 1 | Arabidopsis thaliana | R159 | IYGQYREAGVL | 1 | Caenorhabditis elegans | R265 | IIFFCRNNGYA | 5 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Rattus norvegicus, Pan troglodytes | R265 | VLFICRNNGWA | 1 | Arabidopsis thaliana | S206 | HFVTISSPLAT | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | S206 | NYFTVSATIAT | 1 | Arabidopsis thaliana | S206 | NFVTISSPLTT | 1 | Caenorhabditis elegans | S207 | FVTISSPLATQ | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | S207 | YFTVSATIATQ | 1 | Arabidopsis thaliana | S207 | FVTISSPLTTQ | 1 | Caenorhabditis elegans | S339 | GHHSTSDDSSA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | S339 | GHHSTSDDSTR | 1 | Arabidopsis thaliana | S339 | GHHSTSDDSTA | 1 | Caenorhabditis elegans | T211 | SSPLATQIPQA | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | T211 | SATIATQLPNA | 1 | Arabidopsis thaliana | T211 | SSPLTTQLPQA | 1 | Caenorhabditis elegans | Y158 | LVFGQYREAGV | 4 | Homo sapiens, Bos taurus, Rattus norvegicus, Pan troglodytes | Y158 | VIFPQYREPGV | 1 | Arabidopsis thaliana | Y158 | LIYGQYREAGV | 1 | Caenorhabditis elegans | Y269 | CRNNGYAISTP | 5 | Homo sapiens, Caenorhabditis elegans, Bos taurus, Rattus norvegicus, Pan troglodytes | Y269 | CRNNGWAISTP | 1 | Arabidopsis thaliana |
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