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Gene: BCKDK |
Gene summary for BCKDK |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BCKDK | Gene ID | 10295 |
| Gene name | branched chain keto acid dehydrogenase kinase | |
| Gene Alias | BCKDKD | |
| Cytomap | 16p11.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | O14874 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 10295 | BCKDK | LZE2T | Human | Esophagus | ESCC | 3.82e-06 | 4.86e-01 | 0.082 |
| 10295 | BCKDK | LZE4T | Human | Esophagus | ESCC | 8.01e-10 | 3.13e-01 | 0.0811 |
| 10295 | BCKDK | LZE7T | Human | Esophagus | ESCC | 1.94e-08 | 4.30e-01 | 0.0667 |
| 10295 | BCKDK | LZE8T | Human | Esophagus | ESCC | 1.18e-09 | 2.31e-01 | 0.067 |
| 10295 | BCKDK | LZE20T | Human | Esophagus | ESCC | 7.60e-10 | 2.05e-01 | 0.0662 |
| 10295 | BCKDK | LZE22T | Human | Esophagus | ESCC | 7.85e-05 | 3.13e-01 | 0.068 |
| 10295 | BCKDK | LZE24T | Human | Esophagus | ESCC | 1.74e-33 | 1.06e+00 | 0.0596 |
| 10295 | BCKDK | LZE6T | Human | Esophagus | ESCC | 1.21e-08 | 5.74e-01 | 0.0845 |
| 10295 | BCKDK | P1T-E | Human | Esophagus | ESCC | 2.07e-11 | 4.79e-01 | 0.0875 |
| 10295 | BCKDK | P2T-E | Human | Esophagus | ESCC | 1.09e-68 | 1.10e+00 | 0.1177 |
| 10295 | BCKDK | P4T-E | Human | Esophagus | ESCC | 1.14e-28 | 7.53e-01 | 0.1323 |
| 10295 | BCKDK | P5T-E | Human | Esophagus | ESCC | 2.16e-26 | 5.43e-01 | 0.1327 |
| 10295 | BCKDK | P8T-E | Human | Esophagus | ESCC | 2.54e-29 | 4.88e-01 | 0.0889 |
| 10295 | BCKDK | P9T-E | Human | Esophagus | ESCC | 6.37e-13 | 2.56e-01 | 0.1131 |
| 10295 | BCKDK | P10T-E | Human | Esophagus | ESCC | 4.47e-11 | 1.32e-01 | 0.116 |
| 10295 | BCKDK | P11T-E | Human | Esophagus | ESCC | 6.24e-25 | 7.60e-01 | 0.1426 |
| 10295 | BCKDK | P12T-E | Human | Esophagus | ESCC | 6.39e-37 | 7.22e-01 | 0.1122 |
| 10295 | BCKDK | P15T-E | Human | Esophagus | ESCC | 1.83e-18 | 4.18e-01 | 0.1149 |
| 10295 | BCKDK | P16T-E | Human | Esophagus | ESCC | 1.28e-32 | 6.43e-01 | 0.1153 |
| 10295 | BCKDK | P17T-E | Human | Esophagus | ESCC | 4.79e-17 | 7.78e-01 | 0.1278 |
| Page: 1 2 3 4 5 6 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:00059969 | Esophagus | ESCC | monosaccharide metabolic process | 159/8552 | 257/18723 | 1.11e-07 | 1.81e-06 | 159 |
| GO:00193189 | Esophagus | ESCC | hexose metabolic process | 147/8552 | 237/18723 | 2.63e-07 | 3.94e-06 | 147 |
| GO:00060069 | Esophagus | ESCC | glucose metabolic process | 119/8552 | 196/18723 | 1.51e-05 | 1.36e-04 | 119 |
| GO:00442626 | Esophagus | ESCC | cellular carbohydrate metabolic process | 160/8552 | 283/18723 | 1.43e-04 | 9.66e-04 | 160 |
| GO:00620129 | Esophagus | ESCC | regulation of small molecule metabolic process | 184/8552 | 334/18723 | 3.11e-04 | 1.85e-03 | 184 |
| GO:00421805 | Esophagus | ESCC | cellular ketone metabolic process | 120/8552 | 211/18723 | 6.70e-04 | 3.55e-03 | 120 |
| GO:00442827 | Esophagus | ESCC | small molecule catabolic process | 201/8552 | 376/18723 | 1.35e-03 | 6.41e-03 | 201 |
| GO:00109065 | Esophagus | ESCC | regulation of glucose metabolic process | 71/8552 | 119/18723 | 1.46e-03 | 6.92e-03 | 71 |
| GO:00061096 | Esophagus | ESCC | regulation of carbohydrate metabolic process | 101/8552 | 178/18723 | 1.89e-03 | 8.52e-03 | 101 |
| GO:00106755 | Esophagus | ESCC | regulation of cellular carbohydrate metabolic process | 83/8552 | 146/18723 | 4.24e-03 | 1.69e-02 | 83 |
| GO:00090836 | Esophagus | ESCC | branched-chain amino acid catabolic process | 12/8552 | 15/18723 | 7.31e-03 | 2.63e-02 | 12 |
| GO:00090815 | Esophagus | ESCC | branched-chain amino acid metabolic process | 14/8552 | 19/18723 | 1.27e-02 | 4.21e-02 | 14 |
| GO:004428211 | Liver | Cirrhotic | small molecule catabolic process | 151/4634 | 376/18723 | 2.20e-11 | 1.34e-09 | 151 |
| GO:001605411 | Liver | Cirrhotic | organic acid catabolic process | 104/4634 | 240/18723 | 1.91e-10 | 9.53e-09 | 104 |
| GO:004639511 | Liver | Cirrhotic | carboxylic acid catabolic process | 102/4634 | 236/18723 | 3.41e-10 | 1.63e-08 | 102 |
| GO:000599612 | Liver | Cirrhotic | monosaccharide metabolic process | 104/4634 | 257/18723 | 1.74e-08 | 6.32e-07 | 104 |
| GO:001931812 | Liver | Cirrhotic | hexose metabolic process | 97/4634 | 237/18723 | 2.67e-08 | 9.16e-07 | 97 |
| GO:19016051 | Liver | Cirrhotic | alpha-amino acid metabolic process | 82/4634 | 195/18723 | 7.72e-08 | 2.30e-06 | 82 |
| GO:000600611 | Liver | Cirrhotic | glucose metabolic process | 82/4634 | 196/18723 | 1.01e-07 | 2.93e-06 | 82 |
| GO:006201212 | Liver | Cirrhotic | regulation of small molecule metabolic process | 124/4634 | 334/18723 | 2.74e-07 | 6.79e-06 | 124 |
| Page: 1 2 3 4 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
| Page: 1 |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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. |
| Page: 1 |
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Somatic mutation of malignant transformation related genes |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| BCKDK | SNV | Missense_Mutation | novel | c.244C>G | p.Gln82Glu | p.Q82E | O14874 | protein_coding | tolerated(0.19) | benign(0.01) | TCGA-A2-A0CL-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | SD |
| BCKDK | SNV | Missense_Mutation | novel | c.490G>C | p.Asp164His | p.D164H | O14874 | protein_coding | tolerated(0.13) | benign(0.157) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
| BCKDK | SNV | Missense_Mutation | c.100N>T | p.Ala34Ser | p.A34S | O14874 | protein_coding | tolerated_low_confidence(0.59) | benign(0.003) | TCGA-AR-A251-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD | |
| BCKDK | SNV | Missense_Mutation | c.924N>A | p.Asp308Glu | p.D308E | O14874 | protein_coding | deleterious(0.01) | probably_damaging(0.975) | TCGA-BH-A0DK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| BCKDK | SNV | Missense_Mutation | c.523N>A | p.Glu175Lys | p.E175K | O14874 | protein_coding | deleterious(0.01) | possibly_damaging(0.869) | TCGA-D8-A1X9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD | |
| BCKDK | SNV | Missense_Mutation | c.559N>T | p.Arg187Cys | p.R187C | O14874 | protein_coding | deleterious(0.01) | possibly_damaging(0.663) | TCGA-EW-A1OY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| BCKDK | deletion | In_Frame_Del | novel | c.655_657delGGC | p.Gly219del | p.G219del | O14874 | protein_coding | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
| BCKDK | SNV | Missense_Mutation | rs553956491 | c.587C>T | p.Ser196Leu | p.S196L | O14874 | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-IR-A3LH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| BCKDK | SNV | Missense_Mutation | rs766922526 | c.1196N>A | p.Arg399Gln | p.R399Q | O14874 | protein_coding | deleterious(0.01) | probably_damaging(0.917) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
| BCKDK | SNV | Missense_Mutation | c.392N>A | p.Arg131His | p.R131H | O14874 | protein_coding | deleterious(0.05) | benign(0.36) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| Page: 1 2 3 4 5 |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| Page: 1 |
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