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Gene: BTBD3 |
Gene summary for BTBD3 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BTBD3 | Gene ID | 22903 |
| Gene name | BTB domain containing 3 | |
| Gene Alias | dJ742J24.1 | |
| Cytomap | 20p12.2 | |
| Gene Type | protein-coding | GO ID | GO:0000902 | UniProtAcc | B4DRI6 |
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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 |
| 22903 | BTBD3 | LZE4T | Human | Esophagus | ESCC | 1.93e-02 | 4.19e-02 | 0.0811 |
| 22903 | BTBD3 | LZE5T | Human | Esophagus | ESCC | 3.66e-02 | 2.51e-01 | 0.0514 |
| 22903 | BTBD3 | LZE24T | Human | Esophagus | ESCC | 2.14e-02 | 7.05e-02 | 0.0596 |
| 22903 | BTBD3 | P1T-E | Human | Esophagus | ESCC | 3.48e-02 | 1.27e-01 | 0.0875 |
| 22903 | BTBD3 | P2T-E | Human | Esophagus | ESCC | 1.22e-15 | 2.42e-01 | 0.1177 |
| 22903 | BTBD3 | P4T-E | Human | Esophagus | ESCC | 1.66e-06 | 1.65e-01 | 0.1323 |
| 22903 | BTBD3 | P5T-E | Human | Esophagus | ESCC | 1.18e-13 | 1.83e-01 | 0.1327 |
| 22903 | BTBD3 | P8T-E | Human | Esophagus | ESCC | 1.99e-06 | 1.30e-01 | 0.0889 |
| 22903 | BTBD3 | P9T-E | Human | Esophagus | ESCC | 4.72e-12 | 1.51e-01 | 0.1131 |
| 22903 | BTBD3 | P10T-E | Human | Esophagus | ESCC | 1.16e-20 | 3.64e-01 | 0.116 |
| 22903 | BTBD3 | P11T-E | Human | Esophagus | ESCC | 6.52e-08 | 3.57e-01 | 0.1426 |
| 22903 | BTBD3 | P12T-E | Human | Esophagus | ESCC | 6.51e-11 | 2.39e-01 | 0.1122 |
| 22903 | BTBD3 | P15T-E | Human | Esophagus | ESCC | 4.69e-07 | 1.17e-01 | 0.1149 |
| 22903 | BTBD3 | P16T-E | Human | Esophagus | ESCC | 1.22e-26 | 4.93e-01 | 0.1153 |
| 22903 | BTBD3 | P19T-E | Human | Esophagus | ESCC | 4.66e-05 | 2.25e-01 | 0.1662 |
| 22903 | BTBD3 | P20T-E | Human | Esophagus | ESCC | 4.48e-10 | 1.87e-01 | 0.1124 |
| 22903 | BTBD3 | P21T-E | Human | Esophagus | ESCC | 6.01e-07 | 1.71e-01 | 0.1617 |
| 22903 | BTBD3 | P22T-E | Human | Esophagus | ESCC | 8.16e-11 | 1.28e-01 | 0.1236 |
| 22903 | BTBD3 | P23T-E | Human | Esophagus | ESCC | 5.49e-15 | 4.74e-01 | 0.108 |
| 22903 | BTBD3 | P24T-E | Human | Esophagus | ESCC | 5.72e-09 | 9.84e-02 | 0.1287 |
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| 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 | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma |
| ∗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:00215436 | Esophagus | ESCC | pallium development | 94/8552 | 169/18723 | 5.79e-03 | 2.14e-02 | 94 |
| GO:001635816 | Esophagus | ESCC | dendrite development | 130/8552 | 243/18723 | 8.33e-03 | 2.95e-02 | 130 |
| GO:00163586 | Lung | IAC | dendrite development | 55/2061 | 243/18723 | 1.35e-07 | 1.18e-05 | 55 |
| GO:00488134 | Lung | IAC | dendrite morphogenesis | 34/2061 | 146/18723 | 1.68e-05 | 4.79e-04 | 34 |
| GO:00219872 | Lung | IAC | cerebral cortex development | 27/2061 | 114/18723 | 8.78e-05 | 1.77e-03 | 27 |
| GO:00215432 | Lung | IAC | pallium development | 33/2061 | 169/18723 | 7.51e-04 | 9.82e-03 | 33 |
| GO:00309002 | Lung | IAC | forebrain development | 61/2061 | 379/18723 | 1.52e-03 | 1.61e-02 | 61 |
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| 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 |
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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 |
| BTBD3 | SNV | Missense_Mutation | c.1343N>A | p.Ser448Asn | p.S448N | Q9Y2F9 | protein_coding | tolerated(0.05) | probably_damaging(1) | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | |
| BTBD3 | SNV | Missense_Mutation | c.452C>T | p.Ala151Val | p.A151V | Q9Y2F9 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-AO-A12F-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD | |
| BTBD3 | SNV | Missense_Mutation | c.1210N>G | p.Arg404Gly | p.R404G | Q9Y2F9 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| BTBD3 | SNV | Missense_Mutation | c.304N>T | p.Leu102Phe | p.L102F | Q9Y2F9 | protein_coding | tolerated(0.23) | benign(0.003) | TCGA-BH-A1FH-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD | |
| BTBD3 | SNV | Missense_Mutation | novel | c.1039N>A | p.Asp347Asn | p.D347N | Q9Y2F9 | protein_coding | tolerated(0.59) | benign(0.028) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| BTBD3 | SNV | Missense_Mutation | novel | c.475N>A | p.Glu159Lys | p.E159K | Q9Y2F9 | protein_coding | tolerated(0.13) | benign(0.321) | TCGA-VS-A954-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
| BTBD3 | SNV | Missense_Mutation | c.1248N>A | p.Ser416Arg | p.S416R | Q9Y2F9 | protein_coding | deleterious(0.03) | probably_damaging(0.966) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| BTBD3 | SNV | Missense_Mutation | rs150544423 | c.529N>G | p.Met177Val | p.M177V | Q9Y2F9 | protein_coding | tolerated(0.1) | benign(0.155) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| BTBD3 | SNV | Missense_Mutation | c.151G>A | p.Glu51Lys | p.E51K | Q9Y2F9 | protein_coding | deleterious_low_confidence(0.03) | benign(0.005) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
| BTBD3 | SNV | Missense_Mutation | c.1244N>G | p.Ser415Cys | p.S415C | Q9Y2F9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
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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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