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Gene: BDH1 |
Gene summary for BDH1 |
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Gene information | Species | Human | Gene symbol | BDH1 | Gene ID | 622 |
Gene name | 3-hydroxybutyrate dehydrogenase 1 | |
Gene Alias | BDH | |
Cytomap | 3q29 | |
Gene Type | protein-coding | GO ID | GO:0008150 | UniProtAcc | Q02338 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
622 | BDH1 | LZE2T | Human | Esophagus | ESCC | 1.11e-02 | 5.45e-01 | 0.082 |
622 | BDH1 | LZE4T | Human | Esophagus | ESCC | 1.56e-10 | 1.64e-01 | 0.0811 |
622 | BDH1 | LZE7T | Human | Esophagus | ESCC | 1.75e-05 | 4.28e-01 | 0.0667 |
622 | BDH1 | LZE21D1 | Human | Esophagus | HGIN | 1.22e-03 | 2.87e-01 | 0.0632 |
622 | BDH1 | LZE22D1 | Human | Esophagus | HGIN | 3.56e-09 | 2.02e-01 | 0.0595 |
622 | BDH1 | LZE24T | Human | Esophagus | ESCC | 1.07e-15 | 5.17e-01 | 0.0596 |
622 | BDH1 | LZE21T | Human | Esophagus | ESCC | 5.04e-09 | 6.84e-01 | 0.0655 |
622 | BDH1 | P1T-E | Human | Esophagus | ESCC | 1.57e-06 | 4.78e-01 | 0.0875 |
622 | BDH1 | P2T-E | Human | Esophagus | ESCC | 1.73e-46 | 9.65e-01 | 0.1177 |
622 | BDH1 | P4T-E | Human | Esophagus | ESCC | 5.56e-40 | 1.03e+00 | 0.1323 |
622 | BDH1 | P5T-E | Human | Esophagus | ESCC | 2.09e-10 | 3.13e-03 | 0.1327 |
622 | BDH1 | P8T-E | Human | Esophagus | ESCC | 5.42e-21 | 3.50e-01 | 0.0889 |
622 | BDH1 | P9T-E | Human | Esophagus | ESCC | 3.54e-24 | 5.95e-01 | 0.1131 |
622 | BDH1 | P10T-E | Human | Esophagus | ESCC | 5.84e-31 | 6.75e-01 | 0.116 |
622 | BDH1 | P11T-E | Human | Esophagus | ESCC | 3.36e-06 | 3.46e-01 | 0.1426 |
622 | BDH1 | P12T-E | Human | Esophagus | ESCC | 5.37e-15 | 3.25e-01 | 0.1122 |
622 | BDH1 | P15T-E | Human | Esophagus | ESCC | 1.01e-17 | 2.93e-01 | 0.1149 |
622 | BDH1 | P16T-E | Human | Esophagus | ESCC | 1.44e-30 | 6.22e-01 | 0.1153 |
622 | BDH1 | P17T-E | Human | Esophagus | ESCC | 7.05e-07 | 2.07e-01 | 0.1278 |
622 | BDH1 | P19T-E | Human | Esophagus | ESCC | 2.33e-02 | 7.06e-01 | 0.1662 |
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∗log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00650 | Liver | NAFLD | Butanoate metabolism | 11/1043 | 27/8465 | 1.88e-04 | 3.62e-03 | 2.92e-03 | 11 |
hsa006501 | Liver | NAFLD | Butanoate metabolism | 11/1043 | 27/8465 | 1.88e-04 | 3.62e-03 | 2.92e-03 | 11 |
hsa006502 | Liver | Cirrhotic | Butanoate metabolism | 15/2530 | 27/8465 | 4.71e-03 | 1.74e-02 | 1.07e-02 | 15 |
hsa006503 | Liver | Cirrhotic | Butanoate metabolism | 15/2530 | 27/8465 | 4.71e-03 | 1.74e-02 | 1.07e-02 | 15 |
hsa006504 | Liver | HCC | Butanoate metabolism | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
hsa006505 | Liver | HCC | Butanoate metabolism | 19/4020 | 27/8465 | 1.37e-02 | 3.33e-02 | 1.85e-02 | 19 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
BDH1 | SNV | Missense_Mutation | novel | c.146N>T | p.Ala49Val | p.A49V | Q02338 | protein_coding | tolerated_low_confidence(0.26) | benign(0) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
BDH1 | SNV | Missense_Mutation | novel | c.200N>C | p.Phe67Ser | p.F67S | Q02338 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
BDH1 | SNV | Missense_Mutation | c.352N>A | p.Glu118Lys | p.E118K | Q02338 | protein_coding | tolerated(0.17) | benign(0.033) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR | |
BDH1 | SNV | Missense_Mutation | novel | c.969N>T | p.Trp323Cys | p.W323C | Q02338 | protein_coding | deleterious(0.01) | probably_damaging(0.922) | TCGA-CC-A9FW-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | III/IV | Unknown | Unknown | PD |
BDH1 | SNV | Missense_Mutation | novel | c.871N>T | p.Gly291Cys | p.G291C | Q02338 | protein_coding | deleterious(0.03) | possibly_damaging(0.518) | TCGA-55-7907-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
BDH1 | SNV | Missense_Mutation | c.23N>T | p.Arg8Ile | p.R8I | Q02338 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.881) | TCGA-97-7937-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
BDH1 | SNV | Missense_Mutation | c.538N>G | p.Leu180Val | p.L180V | Q02338 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-MP-A4T2-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
BDH1 | SNV | Missense_Mutation | c.639N>A | p.Phe213Leu | p.F213L | Q02338 | protein_coding | deleterious(0.03) | benign(0.309) | TCGA-46-3769-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Chemotherapy | cisplatin | SD | |
BDH1 | SNV | Missense_Mutation | novel | c.925N>T | p.Thr309Ser | p.T309S | Q02338 | protein_coding | tolerated(0.62) | benign(0.001) | TCGA-56-8504-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
BDH1 | SNV | Missense_Mutation | c.832G>A | p.Asp278Asn | p.D278N | Q02338 | protein_coding | deleterious(0.01) | benign(0.103) | TCGA-60-2720-01 | Lung | lung squamous cell carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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