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Gene: BUB1 |
Gene summary for BUB1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BUB1 | Gene ID | 699 |
| Gene name | BUB1 mitotic checkpoint serine/threonine kinase | |
| Gene Alias | BUB1A | |
| Cytomap | 2q13 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | B4DYG2 |
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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 |
| 699 | BUB1 | LZE2T | Human | Esophagus | ESCC | 4.73e-03 | 7.36e-01 | 0.082 |
| 699 | BUB1 | P2T-E | Human | Esophagus | ESCC | 8.84e-05 | 1.86e-01 | 0.1177 |
| 699 | BUB1 | P4T-E | Human | Esophagus | ESCC | 9.91e-08 | 2.66e-01 | 0.1323 |
| 699 | BUB1 | P5T-E | Human | Esophagus | ESCC | 8.84e-05 | 1.45e-01 | 0.1327 |
| 699 | BUB1 | P10T-E | Human | Esophagus | ESCC | 2.05e-07 | 2.92e-01 | 0.116 |
| 699 | BUB1 | P15T-E | Human | Esophagus | ESCC | 1.31e-02 | 1.68e-01 | 0.1149 |
| 699 | BUB1 | P16T-E | Human | Esophagus | ESCC | 3.50e-02 | 6.32e-02 | 0.1153 |
| 699 | BUB1 | P21T-E | Human | Esophagus | ESCC | 1.97e-10 | 3.20e-01 | 0.1617 |
| 699 | BUB1 | P24T-E | Human | Esophagus | ESCC | 9.44e-07 | 2.50e-01 | 0.1287 |
| 699 | BUB1 | P26T-E | Human | Esophagus | ESCC | 8.84e-05 | 1.78e-01 | 0.1276 |
| 699 | BUB1 | P28T-E | Human | Esophagus | ESCC | 4.17e-05 | 1.31e-01 | 0.1149 |
| 699 | BUB1 | P31T-E | Human | Esophagus | ESCC | 8.40e-04 | 1.22e-01 | 0.1251 |
| 699 | BUB1 | P32T-E | Human | Esophagus | ESCC | 3.60e-13 | 2.92e-01 | 0.1666 |
| 699 | BUB1 | P37T-E | Human | Esophagus | ESCC | 6.65e-04 | 1.63e-01 | 0.1371 |
| 699 | BUB1 | P38T-E | Human | Esophagus | ESCC | 1.93e-04 | 3.04e-01 | 0.127 |
| 699 | BUB1 | P44T-E | Human | Esophagus | ESCC | 2.47e-02 | 1.97e-01 | 0.1096 |
| 699 | BUB1 | P49T-E | Human | Esophagus | ESCC | 7.48e-03 | 4.33e-01 | 0.1768 |
| 699 | BUB1 | P52T-E | Human | Esophagus | ESCC | 4.44e-08 | 1.93e-01 | 0.1555 |
| 699 | BUB1 | P74T-E | Human | Esophagus | ESCC | 2.66e-02 | 2.47e-01 | 0.1479 |
| 699 | BUB1 | P79T-E | Human | Esophagus | ESCC | 1.78e-03 | 1.30e-01 | 0.1154 |
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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 | ||
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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:014001414 | Esophagus | ESCC | mitotic nuclear division | 218/8552 | 287/18723 | 6.17e-26 | 1.78e-23 | 218 |
| GO:000007011 | Esophagus | ESCC | mitotic sister chromatid segregation | 138/8552 | 168/18723 | 1.37e-22 | 2.63e-20 | 138 |
| GO:00008194 | Esophagus | ESCC | sister chromatid segregation | 157/8552 | 202/18723 | 8.41e-21 | 1.33e-18 | 157 |
| GO:003304416 | Esophagus | ESCC | regulation of chromosome organization | 145/8552 | 187/18723 | 3.80e-19 | 4.31e-17 | 145 |
| GO:000705911 | Esophagus | ESCC | chromosome segregation | 238/8552 | 346/18723 | 1.72e-18 | 1.82e-16 | 238 |
| GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
| GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
| GO:00482853 | Esophagus | ESCC | organelle fission | 301/8552 | 488/18723 | 4.64e-13 | 2.12e-11 | 301 |
| GO:00988133 | Esophagus | ESCC | nuclear chromosome segregation | 187/8552 | 281/18723 | 1.00e-12 | 4.36e-11 | 187 |
| GO:00002802 | Esophagus | ESCC | nuclear division | 270/8552 | 439/18723 | 1.17e-11 | 4.24e-10 | 270 |
| GO:190198713 | Esophagus | ESCC | regulation of cell cycle phase transition | 242/8552 | 390/18723 | 3.86e-11 | 1.26e-09 | 242 |
| GO:190199013 | Esophagus | ESCC | regulation of mitotic cell cycle phase transition | 191/8552 | 299/18723 | 1.35e-10 | 3.94e-09 | 191 |
| GO:00457865 | Esophagus | ESCC | negative regulation of cell cycle | 236/8552 | 385/18723 | 3.62e-10 | 9.93e-09 | 236 |
| GO:00000754 | Esophagus | ESCC | cell cycle checkpoint | 117/8552 | 169/18723 | 4.47e-10 | 1.17e-08 | 117 |
| GO:0010639110 | Esophagus | ESCC | negative regulation of organelle organization | 215/8552 | 348/18723 | 8.20e-10 | 2.01e-08 | 215 |
| GO:00070934 | Esophagus | ESCC | mitotic cell cycle checkpoint | 90/8552 | 129/18723 | 2.49e-08 | 4.69e-07 | 90 |
| GO:00519833 | Esophagus | ESCC | regulation of chromosome segregation | 67/8552 | 91/18723 | 5.42e-08 | 9.66e-07 | 67 |
| GO:00070883 | Esophagus | ESCC | regulation of mitotic nuclear division | 78/8552 | 110/18723 | 6.96e-08 | 1.21e-06 | 78 |
| GO:00070912 | Esophagus | ESCC | metaphase/anaphase transition of mitotic cell cycle | 49/8552 | 62/18723 | 7.65e-08 | 1.33e-06 | 49 |
| GO:00513062 | Esophagus | ESCC | mitotic sister chromatid separation | 52/8552 | 67/18723 | 9.14e-08 | 1.52e-06 | 52 |
| Page: 1 2 3 4 5 6 7 8 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa0411023 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
| hsa041146 | Esophagus | ESCC | Oocyte meiosis | 77/4205 | 131/8465 | 2.19e-02 | 4.80e-02 | 2.46e-02 | 77 |
| hsa0411033 | Esophagus | ESCC | Cell cycle | 126/4205 | 157/8465 | 1.34e-15 | 5.60e-14 | 2.87e-14 | 126 |
| hsa0411411 | Esophagus | ESCC | Oocyte meiosis | 77/4205 | 131/8465 | 2.19e-02 | 4.80e-02 | 2.46e-02 | 77 |
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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 |
| BUB1 | SNV | Missense_Mutation | rs537793951 | c.365N>A | p.Leu122His | p.L122H | O43683 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
| BUB1 | SNV | Missense_Mutation | rs370231061 | c.2131N>T | p.Pro711Ser | p.P711S | O43683 | protein_coding | tolerated(0.41) | benign(0.394) | TCGA-D5-6928-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| BUB1 | SNV | Missense_Mutation | rs143906507 | c.148N>A | p.Glu50Lys | p.E50K | O43683 | protein_coding | deleterious(0) | possibly_damaging(0.645) | TCGA-D5-6930-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
| BUB1 | SNV | Missense_Mutation | rs752373314 | c.93N>G | p.Ile31Met | p.I31M | O43683 | protein_coding | tolerated(0.78) | benign(0.049) | TCGA-AG-A025-01 | Colorectum | rectum adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
| BUB1 | SNV | Missense_Mutation | novel | c.2000N>T | p.Ser667Leu | p.S667L | O43683 | protein_coding | tolerated(0.34) | benign(0.001) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| BUB1 | SNV | Missense_Mutation | novel | c.224N>G | p.Phe75Cys | p.F75C | O43683 | protein_coding | deleterious(0) | possibly_damaging(0.618) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| BUB1 | insertion | Frame_Shift_Ins | novel | c.2784_2785insG | p.Phe929ValfsTer6 | p.F929Vfs*6 | O43683 | protein_coding | TCGA-AA-3697-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | ||
| BUB1 | insertion | Frame_Shift_Ins | novel | c.2455dupG | p.Val819GlyfsTer61 | p.V819Gfs*61 | O43683 | protein_coding | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | ||
| BUB1 | SNV | Missense_Mutation | novel | c.2174N>C | p.Met725Thr | p.M725T | O43683 | protein_coding | tolerated(0.96) | benign(0) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| BUB1 | SNV | Missense_Mutation | novel | c.1393A>G | p.Lys465Glu | p.K465E | O43683 | protein_coding | deleterious(0) | probably_damaging(0.955) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | 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 |
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | inhibitor | 249565789 | ||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | inhibitor | 249565790 | ||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | SCHEMBL17766424 | |||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | inhibitor | 249565792 | ||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | inhibitor | 315661212 | ||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | inhibitor | 249565791 | ||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | SCHEMBL16365841 | |||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | SCHEMBL16322760 | |||
| 699 | BUB1 | KINASE, ENZYME, SERINE THREONINE KINASE, DRUGGABLE GENOME | inhibitor | 315661211 |
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