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Gene: BUB1 |
Gene summary for BUB1 |
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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 |
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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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∗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 |
GO:00315774 | Thyroid | ATC | spindle checkpoint | 27/6293 | 39/18723 | 5.83e-06 | 6.16e-05 | 27 |
GO:00519854 | Thyroid | ATC | negative regulation of chromosome segregation | 30/6293 | 45/18723 | 5.89e-06 | 6.18e-05 | 30 |
GO:19058194 | Thyroid | ATC | negative regulation of chromosome separation | 30/6293 | 45/18723 | 5.89e-06 | 6.18e-05 | 30 |
GO:000007513 | Thyroid | ATC | cell cycle checkpoint | 84/6293 | 169/18723 | 1.05e-05 | 1.04e-04 | 84 |
GO:001094813 | Thyroid | ATC | negative regulation of cell cycle process | 134/6293 | 294/18723 | 1.19e-05 | 1.15e-04 | 134 |
GO:190198813 | Thyroid | ATC | negative regulation of cell cycle phase transition | 116/6293 | 249/18723 | 1.33e-05 | 1.27e-04 | 116 |
GO:000706213 | Thyroid | ATC | sister chromatid cohesion | 35/6293 | 62/18723 | 1.81e-04 | 1.23e-03 | 35 |
GO:0070601 | Thyroid | ATC | centromeric sister chromatid cohesion | 9/6293 | 11/18723 | 1.46e-03 | 7.47e-03 | 9 |
GO:000706312 | Thyroid | ATC | regulation of sister chromatid cohesion | 14/6293 | 21/18723 | 1.99e-03 | 9.54e-03 | 14 |
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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 |
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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 |
BUB1 | SNV | Missense_Mutation | c.2854N>C | p.Asp952His | p.D952H | O43683 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD | |
BUB1 | SNV | Missense_Mutation | c.1234N>G | p.Thr412Ala | p.T412A | O43683 | protein_coding | tolerated(0.22) | benign(0) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD | |
BUB1 | SNV | Missense_Mutation | c.1426N>G | p.Gln476Glu | p.Q476E | O43683 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-E2-A15H-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | herceptin | SD | |
BUB1 | SNV | Missense_Mutation | rs867863036 | c.2029N>T | p.Arg677Cys | p.R677C | O43683 | protein_coding | tolerated(0.16) | benign(0) | TCGA-C5-A7CL-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | cisplatin | PD |
BUB1 | SNV | Missense_Mutation | novel | c.1513N>G | p.Gln505Glu | p.Q505E | O43683 | protein_coding | tolerated(0.32) | benign(0.13) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BUB1 | SNV | Missense_Mutation | novel | c.114N>G | p.Phe38Leu | p.F38L | O43683 | protein_coding | tolerated(0.93) | benign(0.237) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
BUB1 | SNV | Missense_Mutation | c.1416N>A | p.Met472Ile | p.M472I | O43683 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
BUB1 | insertion | Frame_Shift_Ins | novel | c.3096_3097insT | p.His1033SerfsTer32 | p.H1033Sfs*32 | O43683 | protein_coding | TCGA-VS-A9UJ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD | ||
BUB1 | SNV | Missense_Mutation | novel | c.1129N>A | p.Ala377Thr | p.A377T | O43683 | protein_coding | tolerated(0.16) | benign(0) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
BUB1 | SNV | Missense_Mutation | rs548365437 | c.1010N>T | p.Ala337Val | p.A337V | O43683 | protein_coding | tolerated(0.15) | benign(0.005) | TCGA-A6-2686-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | 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 |
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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