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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:005140218 | Oral cavity | LP | neuron apoptotic process | 91/4623 | 246/18723 | 1.07e-05 | 1.94e-04 | 91 |
GO:009019913 | Oral cavity | LP | regulation of release of cytochrome c from mitochondria | 26/4623 | 48/18723 | 1.13e-05 | 2.04e-04 | 26 |
GO:005105415 | Oral cavity | LP | positive regulation of DNA metabolic process | 77/4623 | 201/18723 | 1.20e-05 | 2.15e-04 | 77 |
GO:003209115 | Oral cavity | LP | negative regulation of protein binding | 42/4623 | 94/18723 | 1.80e-05 | 3.09e-04 | 42 |
GO:001082214 | Oral cavity | LP | positive regulation of mitochondrion organization | 35/4623 | 74/18723 | 1.99e-05 | 3.34e-04 | 35 |
GO:0051100110 | Oral cavity | LP | negative regulation of binding | 64/4623 | 162/18723 | 2.07e-05 | 3.44e-04 | 64 |
GO:0042326110 | Oral cavity | LP | negative regulation of phosphorylation | 131/4623 | 385/18723 | 2.10e-05 | 3.46e-04 | 131 |
GO:004690216 | Oral cavity | LP | regulation of mitochondrial membrane permeability | 31/4623 | 63/18723 | 2.20e-05 | 3.58e-04 | 31 |
GO:000691914 | Oral cavity | LP | activation of cysteine-type endopeptidase activity involved in apoptotic process | 36/4623 | 78/18723 | 2.97e-05 | 4.62e-04 | 36 |
GO:003464412 | Oral cavity | LP | cellular response to UV | 40/4623 | 90/18723 | 3.28e-05 | 5.02e-04 | 40 |
GO:005120415 | Oral cavity | LP | protein insertion into mitochondrial membrane | 16/4623 | 25/18723 | 3.61e-05 | 5.36e-04 | 16 |
GO:190589812 | Oral cavity | LP | positive regulation of response to endoplasmic reticulum stress | 20/4623 | 35/18723 | 4.16e-05 | 6.05e-04 | 20 |
GO:000862517 | Oral cavity | LP | extrinsic apoptotic signaling pathway via death domain receptors | 37/4623 | 82/18723 | 4.28e-05 | 6.15e-04 | 37 |
GO:0001933110 | Oral cavity | LP | negative regulation of protein phosphorylation | 117/4623 | 342/18723 | 4.34e-05 | 6.22e-04 | 117 |
GO:009020011 | Oral cavity | LP | positive regulation of release of cytochrome c from mitochondria | 17/4623 | 28/18723 | 5.47e-05 | 7.57e-04 | 17 |
GO:004828412 | Oral cavity | LP | organelle fusion | 56/4623 | 141/18723 | 5.55e-05 | 7.62e-04 | 56 |
GO:009055916 | Oral cavity | LP | regulation of membrane permeability | 35/4623 | 78/18723 | 7.85e-05 | 1.02e-03 | 35 |
GO:00903051 | Oral cavity | LP | nucleic acid phosphodiester bond hydrolysis | 92/4623 | 261/18723 | 8.07e-05 | 1.04e-03 | 92 |
GO:005123519 | Oral cavity | LP | maintenance of location | 111/4623 | 327/18723 | 9.62e-05 | 1.20e-03 | 111 |
GO:001033214 | Oral cavity | LP | response to gamma radiation | 27/4623 | 56/18723 | 1.14e-04 | 1.36e-03 | 27 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05012 | Colorectum | AD | Parkinson disease | 147/2092 | 266/8465 | 2.53e-27 | 8.48e-25 | 5.41e-25 | 147 |
hsa05016 | Colorectum | AD | Huntington disease | 147/2092 | 306/8465 | 1.93e-19 | 9.26e-18 | 5.91e-18 | 147 |
hsa04932 | Colorectum | AD | Non-alcoholic fatty liver disease | 90/2092 | 155/8465 | 4.83e-19 | 1.80e-17 | 1.15e-17 | 90 |
hsa05020 | Colorectum | AD | Prion disease | 133/2092 | 273/8465 | 2.47e-18 | 8.29e-17 | 5.29e-17 | 133 |
hsa05014 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa05131 | Colorectum | AD | Shigellosis | 109/2092 | 247/8465 | 1.09e-11 | 2.44e-10 | 1.55e-10 | 109 |
hsa04141 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa05132 | Colorectum | AD | Salmonella infection | 102/2092 | 249/8465 | 7.65e-09 | 1.28e-07 | 8.17e-08 | 102 |
hsa05130 | Colorectum | AD | Pathogenic Escherichia coli infection | 79/2092 | 197/8465 | 1.05e-06 | 1.36e-05 | 8.65e-06 | 79 |
hsa04722 | Colorectum | AD | Neurotrophin signaling pathway | 50/2092 | 119/8465 | 2.28e-05 | 2.24e-04 | 1.43e-04 | 50 |
hsa05213 | Colorectum | AD | Endometrial cancer | 29/2092 | 58/8465 | 2.69e-05 | 2.57e-04 | 1.64e-04 | 29 |
hsa05210 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
hsa05417 | Colorectum | AD | Lipid and atherosclerosis | 73/2092 | 215/8465 | 1.31e-03 | 8.27e-03 | 5.27e-03 | 73 |
hsa05170 | Colorectum | AD | Human immunodeficiency virus 1 infection | 72/2092 | 212/8465 | 1.40e-03 | 8.46e-03 | 5.39e-03 | 72 |
hsa05220 | Colorectum | AD | Chronic myeloid leukemia | 31/2092 | 76/8465 | 1.41e-03 | 8.46e-03 | 5.39e-03 | 31 |
hsa05225 | Colorectum | AD | Hepatocellular carcinoma | 59/2092 | 168/8465 | 1.50e-03 | 8.69e-03 | 5.54e-03 | 59 |
hsa05163 | Colorectum | AD | Human cytomegalovirus infection | 75/2092 | 225/8465 | 2.00e-03 | 1.10e-02 | 7.01e-03 | 75 |
hsa04071 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
hsa05166 | Colorectum | AD | Human T-cell leukemia virus 1 infection | 72/2092 | 222/8465 | 5.24e-03 | 2.44e-02 | 1.55e-02 | 72 |
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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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