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| TissGeneSummary for BDH1 |
 Gene summary |
| Basic gene information | Gene symbol | BDH1 |
| Gene name | 3-hydroxybutyrate dehydrogenase, type 1 | |
| Synonyms | BDH|SDR9C1 | |
| Cytomap | UCSC genome browser: 3q29 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004051.4, NM_203314.2,NM_203315.2, | |
| Description | (R)-3-hydroxybutyrate dehydrogenase3-hydroxybutyrate dehydrogenase (heart, mitochondrial)D-beta-hydroxybutyrate dehydrogenase, mitochondrialshort chain dehydrogenase/reductase family 9C, member 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 603063 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000161267 | ||
| HPRD : 04344 | ||
| Vega : OTTHUMG00000155478 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BDH1 | |
| BioGPS: 622 | ||
| Pathway | NCI Pathway Interaction Database: BDH1 | |
| KEGG: BDH1 | ||
| REACTOME: BDH1 | ||
| Pathway Commons: BDH1 | ||
| Context | iHOP: BDH1 | |
| ligand binding site mutation search in PubMed: BDH1 | ||
| UCL Cancer Institute: BDH1 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | HPA,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Liver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | LIHC | |
| Reference showing the relevant tissue of BDH1 | ||
| Description by TissGene annotations | Have significant anti-correlated miRNA Fused withTSGene | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for BDH1 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LUAD | -0.931166952 | -2.031856608 | 1.100689655 | 1.25E-12 | 9.70E-12 |
| KIRC | -3.202051339 | -0.106070784 | -3.095980556 | 3.67E-26 | 4.92E-25 |
| COAD | 0.948915541 | 1.955584772 | -1.006669231 | 5.67E-08 | 4.23E-07 |
| LIHC | 2.459336772 | 3.579494772 | -1.120158 | 5.62E-08 | 4.23E-07 |
| LUSC | -0.176131895 | -2.018202483 | 1.842070588 | 4.85E-13 | 2.32E-12 |
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| TissGene-miRNA for BDH1 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
| LUAD | hsa-miR-874-3p | MIMAT0004911 | 0.014 | -0.32 | 60 |
| LUAD | hsa-miR-125a-5p | MIMAT0000443 | 0.0043 | -0.37 | 60 |
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| TissGeneMut for BDH1 |
| TissGeneSNV for BDH1 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.L180V | LUAD | 1 |
| p.S116N | LGG | 1 |
| p.A282T | THCA | 1 |
| p.W323C | LIHC | 1 |
| p.P207L | READ | 1 |
| p.G214W | THCA | 1 |
| p.G291C | LUAD | 1 |
| p.X344C | LIHC | 1 |
| p.P40S | SKCM | 1 |
| p.E24K | SKCM | 1 |
| p.G214V | LUAD | 1 |
| p.D278N | LUSC | 1 |
| p.Y224H | STAD | 1 |
| p.F213L | LUSC | 1 |
| p.G273C | UCEC | 1 |
| p.D100N | BRCA | 1 |
| p.R8I | LUAD | 1 |
| p.R325* | UCEC | 1 |
| p.P228L | SKCM | 1 |
| p.R184* | STAD | 1 |
| p.R29H | STAD | 1 |
| p.S37F | SKCM | 1 |
| p.A165T | PAAD | 1 |
| p.L6I | COAD | 1 |
| p.A308T | COAD | 1 |
| p.G188C | STAD | 1 |
| p.L182I | ESCA | 1 |
| p.R29H | ESCA | 1 |
| p.E251K | CESC | 1 |
| p.S157G | COAD | 1 |
| p.R205H | STAD | 1 |
| p.M318I | SKCM | 1 |
| p.D300N | LUSC | 1 |
| p.T286I | KIRC | 1 |
| p.S70L | HNSC | 1 |
| p.G26V | OV | 1 |
| p.K212E | UCEC | 1 |
| p.G34C | LUSC | 1 |
| p.R314H | STAD | 1 |
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| TissGeneCNV for BDH1 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for BDH1 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | BF679324 | BDH1-UBR3 | chr3:197249600 | chr2:170938234 | |
| Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A4OS-01A | DLG1-BDH1 | In-Frame | chr3:197009549 | chr3:197249652 |
| TCGAfusionPortal | PRADA | LGG | TCGA-HT-A5RA-01A | BDH1-ZBBX | In-frame | Chr3:197249511 | Chr3:166960431 |
| TCGAfusionPortal | PRADA | LUSC | TCGA-66-2771-01A | DLG1-BDH1 | CDS-5UTR | Chr3:197009550 | Chr3:197273357 |
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| TissGeneNet for BDH1 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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| TissGeneProg for BDH1 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for BDH1 |
| TissGeneDrug for BDH1 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for BDH1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0011853 | Diabetes Mellitus, Experimental | 1 | RGD |
| umls:C0017638 | Glioma | 1 | BeFree |
| umls:C0020550 | Hyperthyroidism | 1 | RGD |
| umls:C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| umls:C0026351 | Moderate mental retardation (I.Q. 35-49) | 1 | BeFree |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
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