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Gene: BAX |
Gene summary for BAX |
Gene summary. |
Gene information | Species | Human | Gene symbol | BAX | Gene ID | 581 |
Gene name | BCL2 associated X, apoptosis regulator | |
Gene Alias | BCL2L4 | |
Cytomap | 19q13.33 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q07812 |
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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 |
581 | BAX | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.67e-05 | 3.39e-01 | 0.0155 |
581 | BAX | HTA11_2487_2000001011 | Human | Colorectum | SER | 4.70e-08 | 4.92e-01 | -0.1808 |
581 | BAX | HTA11_2951_2000001011 | Human | Colorectum | AD | 2.02e-04 | 3.85e-01 | 0.0216 |
581 | BAX | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.54e-15 | 6.87e-01 | -0.0811 |
581 | BAX | HTA11_347_2000001011 | Human | Colorectum | AD | 1.59e-09 | 4.21e-01 | -0.1954 |
581 | BAX | HTA11_411_2000001011 | Human | Colorectum | SER | 3.76e-03 | 6.17e-01 | -0.2602 |
581 | BAX | HTA11_83_2000001011 | Human | Colorectum | SER | 6.86e-11 | 7.39e-01 | -0.1526 |
581 | BAX | HTA11_696_2000001011 | Human | Colorectum | AD | 9.94e-30 | 7.49e-01 | -0.1464 |
581 | BAX | HTA11_866_2000001011 | Human | Colorectum | AD | 9.70e-11 | 4.48e-01 | -0.1001 |
581 | BAX | HTA11_1391_2000001011 | Human | Colorectum | AD | 1.34e-31 | 1.31e+00 | -0.059 |
581 | BAX | HTA11_2992_2000001011 | Human | Colorectum | SER | 2.27e-11 | 7.50e-01 | -0.1706 |
581 | BAX | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.51e-02 | 3.67e-01 | -0.2061 |
581 | BAX | HTA11_546_2000001011 | Human | Colorectum | AD | 1.75e-04 | 3.89e-01 | -0.0842 |
581 | BAX | HTA11_866_3004761011 | Human | Colorectum | AD | 2.18e-22 | 7.38e-01 | 0.096 |
581 | BAX | HTA11_4255_2000001011 | Human | Colorectum | SER | 1.53e-05 | 6.68e-01 | 0.0446 |
581 | BAX | HTA11_9408_2000001011 | Human | Colorectum | AD | 1.08e-02 | 5.11e-01 | 0.0451 |
581 | BAX | HTA11_8622_2000001021 | Human | Colorectum | SER | 4.16e-03 | 6.17e-01 | 0.0528 |
581 | BAX | HTA11_7663_2000001011 | Human | Colorectum | SER | 1.90e-02 | 6.33e-01 | 0.0131 |
581 | BAX | HTA11_10711_2000001011 | Human | Colorectum | AD | 1.39e-05 | 5.37e-01 | 0.0338 |
581 | BAX | HTA11_7696_3000711011 | Human | Colorectum | AD | 2.01e-19 | 5.91e-01 | 0.0674 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0009896 | Colorectum | AD | positive regulation of catabolic process | 180/3918 | 492/18723 | 4.33e-16 | 1.94e-13 | 180 |
GO:0031331 | Colorectum | AD | positive regulation of cellular catabolic process | 156/3918 | 427/18723 | 4.68e-14 | 1.05e-11 | 156 |
GO:0006839 | Colorectum | AD | mitochondrial transport | 102/3918 | 254/18723 | 1.87e-12 | 3.08e-10 | 102 |
GO:0072594 | Colorectum | AD | establishment of protein localization to organelle | 148/3918 | 422/18723 | 7.95e-12 | 1.04e-09 | 148 |
GO:0043254 | Colorectum | AD | regulation of protein-containing complex assembly | 148/3918 | 428/18723 | 2.64e-11 | 3.18e-09 | 148 |
GO:0090150 | Colorectum | AD | establishment of protein localization to membrane | 100/3918 | 260/18723 | 6.01e-11 | 6.33e-09 | 100 |
GO:0048732 | Colorectum | AD | gland development | 149/3918 | 436/18723 | 6.07e-11 | 6.33e-09 | 149 |
GO:0097193 | Colorectum | AD | intrinsic apoptotic signaling pathway | 108/3918 | 288/18723 | 6.25e-11 | 6.41e-09 | 108 |
GO:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:0031334 | Colorectum | AD | positive regulation of protein-containing complex assembly | 91/3918 | 237/18723 | 4.78e-10 | 3.99e-08 | 91 |
GO:0051098 | Colorectum | AD | regulation of binding | 126/3918 | 363/18723 | 6.01e-10 | 4.88e-08 | 126 |
GO:0022411 | Colorectum | AD | cellular component disassembly | 147/3918 | 443/18723 | 8.53e-10 | 6.76e-08 | 147 |
GO:0044270 | Colorectum | AD | cellular nitrogen compound catabolic process | 147/3918 | 451/18723 | 3.35e-09 | 2.23e-07 | 147 |
GO:0046700 | Colorectum | AD | heterocycle catabolic process | 145/3918 | 445/18723 | 4.37e-09 | 2.84e-07 | 145 |
GO:2001242 | Colorectum | AD | regulation of intrinsic apoptotic signaling pathway | 67/3918 | 164/18723 | 4.94e-09 | 3.16e-07 | 67 |
GO:0034655 | Colorectum | AD | nucleobase-containing compound catabolic process | 133/3918 | 407/18723 | 1.56e-08 | 9.12e-07 | 133 |
GO:2001233 | Colorectum | AD | regulation of apoptotic signaling pathway | 119/3918 | 356/18723 | 2.14e-08 | 1.21e-06 | 119 |
GO:0019439 | Colorectum | AD | aromatic compound catabolic process | 146/3918 | 467/18723 | 7.48e-08 | 3.84e-06 | 146 |
GO:1901361 | Colorectum | AD | organic cyclic compound catabolic process | 153/3918 | 495/18723 | 8.23e-08 | 4.18e-06 | 153 |
GO:0034976 | Colorectum | AD | response to endoplasmic reticulum stress | 90/3918 | 256/18723 | 8.48e-08 | 4.28e-06 | 90 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0513022 | Liver | Cirrhotic | Pathogenic Escherichia coli infection | 88/2530 | 197/8465 | 6.48e-06 | 6.24e-05 | 3.84e-05 | 88 |
hsa0513122 | Liver | Cirrhotic | Shigellosis | 105/2530 | 247/8465 | 1.31e-05 | 1.21e-04 | 7.48e-05 | 105 |
hsa052167 | Liver | Cirrhotic | Thyroid cancer | 23/2530 | 37/8465 | 4.63e-05 | 3.28e-04 | 2.02e-04 | 23 |
hsa042106 | Liver | Cirrhotic | Apoptosis | 58/2530 | 136/8465 | 9.84e-04 | 5.55e-03 | 3.42e-03 | 58 |
hsa05165 | Liver | Cirrhotic | Human papillomavirus infection | 124/2530 | 331/8465 | 1.55e-03 | 7.83e-03 | 4.83e-03 | 124 |
hsa052107 | Liver | Cirrhotic | Colorectal cancer | 39/2530 | 86/8465 | 1.67e-03 | 8.01e-03 | 4.94e-03 | 39 |
hsa0516614 | Liver | Cirrhotic | Human T-cell leukemia virus 1 infection | 87/2530 | 222/8465 | 1.69e-03 | 8.01e-03 | 4.94e-03 | 87 |
hsa0516914 | Liver | Cirrhotic | Epstein-Barr virus infection | 80/2530 | 202/8465 | 1.80e-03 | 8.33e-03 | 5.13e-03 | 80 |
hsa015244 | Liver | Cirrhotic | Platinum drug resistance | 34/2530 | 73/8465 | 1.86e-03 | 8.37e-03 | 5.16e-03 | 34 |
hsa052138 | Liver | Cirrhotic | Endometrial cancer | 28/2530 | 58/8465 | 2.37e-03 | 1.00e-02 | 6.16e-03 | 28 |
hsa0516312 | Liver | Cirrhotic | Human cytomegalovirus infection | 87/2530 | 225/8465 | 2.67e-03 | 1.10e-02 | 6.76e-03 | 87 |
hsa051605 | Liver | Cirrhotic | Hepatitis C | 63/2530 | 157/8465 | 3.67e-03 | 1.49e-02 | 9.20e-03 | 63 |
hsa052126 | Liver | Cirrhotic | Pancreatic cancer | 34/2530 | 76/8465 | 4.20e-03 | 1.63e-02 | 1.00e-02 | 34 |
hsa015216 | Liver | Cirrhotic | EGFR tyrosine kinase inhibitor resistance | 35/2530 | 79/8465 | 4.50e-03 | 1.70e-02 | 1.05e-02 | 35 |
hsa052208 | Liver | Cirrhotic | Chronic myeloid leukemia | 33/2530 | 76/8465 | 8.23e-03 | 2.83e-02 | 1.74e-02 | 33 |
hsa0516410 | Liver | Cirrhotic | Influenza A | 66/2530 | 171/8465 | 8.56e-03 | 2.91e-02 | 1.79e-02 | 66 |
hsa0516714 | Liver | Cirrhotic | Kaposi sarcoma-associated herpesvirus infection | 73/2530 | 194/8465 | 1.17e-02 | 3.81e-02 | 2.35e-02 | 73 |
hsa0541722 | Liver | Cirrhotic | Lipid and atherosclerosis | 80/2530 | 215/8465 | 1.18e-02 | 3.81e-02 | 2.35e-02 | 80 |
hsa042118 | Liver | Cirrhotic | Longevity regulating pathway | 37/2530 | 89/8465 | 1.22e-02 | 3.89e-02 | 2.40e-02 | 37 |
hsa05203 | Liver | Cirrhotic | Viral carcinogenesis | 76/2530 | 204/8465 | 1.34e-02 | 4.20e-02 | 2.59e-02 | 76 |
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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. |
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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 |
BAX | SNV | Missense_Mutation | c.391N>A | p.Glu131Lys | p.E131K | Q07812 | protein_coding | tolerated(0.15) | possibly_damaging(0.708) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
BAX | SNV | Missense_Mutation | c.399C>G | p.Ile133Met | p.I133M | Q07812 | protein_coding | deleterious(0) | possibly_damaging(0.881) | TCGA-AN-A0FW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
BAX | SNV | Missense_Mutation | rs202190487 | c.266N>A | p.Arg89Gln | p.R89Q | Q07812 | protein_coding | tolerated(0.54) | benign(0.132) | TCGA-UU-A93S-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
BAX | deletion | Frame_Shift_Del | c.260delN | p.Arg89GlufsTer44 | p.R89Efs*44 | Q07812 | protein_coding | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |||
BAX | deletion | Frame_Shift_Del | novel | c.274delN | p.Phe93SerfsTer40 | p.F93Sfs*40 | Q07812 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD | ||
BAX | SNV | Missense_Mutation | novel | c.556N>G | p.Pro186Ala | p.P186A | Q07812 | protein_coding | tolerated_low_confidence(0.2) | benign(0.077) | TCGA-VS-A9UD-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
BAX | SNV | Missense_Mutation | c.399N>G | p.Ile133Met | p.I133M | Q07812 | protein_coding | deleterious(0) | possibly_damaging(0.881) | TCGA-A6-5657-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Ancillary | leucovorin | SD | |
BAX | SNV | Missense_Mutation | c.417N>T | p.Trp139Cys | p.W139C | Q07812 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AA-3679-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folinic | SD | |
BAX | deletion | Frame_Shift_Del | c.265delC | p.Arg89GlufsTer44 | p.R89Efs*44 | Q07812 | protein_coding | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |||
BAX | SNV | Missense_Mutation | rs398122513 | c.199N>A | p.Gly67Arg | p.G67R | Q07812 | protein_coding | deleterious(0.01) | benign(0.403) | TCGA-A5-A2K3-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | 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 |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | PREDNISOLONE | PREDNISOLONE | 12730678 | |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | METHOTREXATE | METHOTREXATE | 11237386 | |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | NITROGEN MUSTARD | 9459175,11839668 | ||
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | DOXORUBICIN | DOXORUBICIN | 12040435 | |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | CA4P | 12171907 | ||
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | PHENYLEPHRINE | PHENYLEPHRINE | 10220693 | |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | DHEA | PRASTERONE | 9177459 | |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | PHENOBARBITAL | PHENOBARBITAL | 9230198 | |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | BICALUTAMIDE | BICALUTAMIDE | 11845989 | |
581 | BAX | TUMOR SUPPRESSOR, DRUGGABLE GENOME | DHT | ANDROSTANOLONE | 15517879 |
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