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Gene: BCL2 |
Gene summary for BCL2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | BCL2 | Gene ID | 596 |
Gene name | BCL2 apoptosis regulator | |
Gene Alias | Bcl-2 | |
Cytomap | 18q21.33 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A024R2B3 |
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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 |
596 | BCL2 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.24e-07 | -5.25e-01 | 0.0155 |
596 | BCL2 | HTA11_2487_2000001011 | Human | Colorectum | SER | 3.41e-09 | -7.41e-01 | -0.1808 |
596 | BCL2 | HTA11_2951_2000001011 | Human | Colorectum | AD | 1.48e-02 | -6.56e-01 | 0.0216 |
596 | BCL2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.86e-04 | -6.46e-01 | -0.0811 |
596 | BCL2 | HTA11_78_2000001011 | Human | Colorectum | AD | 3.32e-02 | -4.93e-01 | -0.1088 |
596 | BCL2 | HTA11_411_2000001011 | Human | Colorectum | SER | 6.06e-03 | -8.87e-01 | -0.2602 |
596 | BCL2 | HTA11_2112_2000001011 | Human | Colorectum | SER | 8.98e-03 | -8.81e-01 | -0.2196 |
596 | BCL2 | HTA11_3361_2000001011 | Human | Colorectum | AD | 1.34e-07 | -7.25e-01 | -0.1207 |
596 | BCL2 | HTA11_696_2000001011 | Human | Colorectum | AD | 2.75e-08 | -5.41e-01 | -0.1464 |
596 | BCL2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.53e-04 | -4.55e-01 | -0.059 |
596 | BCL2 | HTA11_2992_2000001011 | Human | Colorectum | SER | 8.75e-04 | -7.74e-01 | -0.1706 |
596 | BCL2 | HTA11_5212_2000001011 | Human | Colorectum | AD | 1.99e-06 | -9.38e-01 | -0.2061 |
596 | BCL2 | HTA11_866_3004761011 | Human | Colorectum | AD | 6.02e-05 | -5.37e-01 | 0.096 |
596 | BCL2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 7.29e-04 | -5.45e-01 | 0.0338 |
596 | BCL2 | HTA11_7696_3000711011 | Human | Colorectum | AD | 5.22e-11 | -5.46e-01 | 0.0674 |
596 | BCL2 | HTA11_6818_2000001021 | Human | Colorectum | AD | 5.07e-06 | -6.80e-01 | 0.0588 |
596 | BCL2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 3.45e-28 | -7.48e-01 | 0.294 |
596 | BCL2 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 1.07e-02 | -5.71e-01 | 0.281 |
596 | BCL2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.36e-54 | -1.13e+00 | 0.3859 |
596 | BCL2 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 1.30e-05 | -6.55e-01 | 0.2585 |
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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:20012366 | Stomach | GC | regulation of extrinsic apoptotic signaling pathway | 24/1159 | 151/18723 | 1.87e-05 | 5.77e-04 | 24 |
GO:00517016 | Stomach | GC | biological process involved in interaction with host | 29/1159 | 203/18723 | 2.19e-05 | 6.53e-04 | 29 |
GO:19016546 | Stomach | GC | response to ketone | 28/1159 | 194/18723 | 2.49e-05 | 7.19e-04 | 28 |
GO:20012436 | Stomach | GC | negative regulation of intrinsic apoptotic signaling pathway | 18/1159 | 98/18723 | 2.85e-05 | 7.90e-04 | 18 |
GO:19035736 | Stomach | GC | negative regulation of response to endoplasmic reticulum stress | 11/1159 | 44/18723 | 5.63e-05 | 1.31e-03 | 11 |
GO:00108215 | Stomach | GC | regulation of mitochondrion organization | 22/1159 | 144/18723 | 7.57e-05 | 1.64e-03 | 22 |
GO:00108235 | Stomach | GC | negative regulation of mitochondrion organization | 11/1159 | 49/18723 | 1.61e-04 | 2.85e-03 | 11 |
GO:00070064 | Stomach | GC | mitochondrial membrane organization | 18/1159 | 116/18723 | 2.71e-04 | 4.44e-03 | 18 |
GO:20012376 | Stomach | GC | negative regulation of extrinsic apoptotic signaling pathway | 16/1159 | 97/18723 | 2.87e-04 | 4.66e-03 | 16 |
GO:0009314 | Stomach | GC | response to radiation | 47/1159 | 456/18723 | 4.21e-04 | 6.33e-03 | 47 |
GO:00469023 | Stomach | GC | regulation of mitochondrial membrane permeability | 12/1159 | 63/18723 | 4.22e-04 | 6.33e-03 | 12 |
GO:0008625 | Stomach | GC | extrinsic apoptotic signaling pathway via death domain receptors | 14/1159 | 82/18723 | 4.71e-04 | 6.84e-03 | 14 |
GO:00106396 | Stomach | GC | negative regulation of organelle organization | 38/1159 | 348/18723 | 4.87e-04 | 7.04e-03 | 38 |
GO:1902041 | Stomach | GC | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 10/1159 | 49/18723 | 7.12e-04 | 9.40e-03 | 10 |
GO:00905593 | Stomach | GC | regulation of membrane permeability | 13/1159 | 78/18723 | 9.38e-04 | 1.14e-02 | 13 |
GO:19022366 | Stomach | GC | negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway | 6/1159 | 20/18723 | 1.01e-03 | 1.20e-02 | 6 |
GO:00086305 | Stomach | GC | intrinsic apoptotic signaling pathway in response to DNA damage | 15/1159 | 99/18723 | 1.10e-03 | 1.28e-02 | 15 |
GO:00705845 | Stomach | GC | mitochondrion morphogenesis | 6/1159 | 21/18723 | 1.35e-03 | 1.49e-02 | 6 |
GO:19058976 | Stomach | GC | regulation of response to endoplasmic reticulum stress | 13/1159 | 82/18723 | 1.51e-03 | 1.63e-02 | 13 |
GO:00518814 | Stomach | GC | regulation of mitochondrial membrane potential | 12/1159 | 74/18723 | 1.85e-03 | 1.92e-02 | 12 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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 |
hsa04066 | Colorectum | AD | HIF-1 signaling pathway | 48/2092 | 109/8465 | 7.25e-06 | 7.84e-05 | 5.00e-05 | 48 |
hsa04722 | Colorectum | AD | Neurotrophin signaling pathway | 50/2092 | 119/8465 | 2.28e-05 | 2.24e-04 | 1.43e-04 | 50 |
hsa05418 | Colorectum | AD | Fluid shear stress and atherosclerosis | 54/2092 | 139/8465 | 1.41e-04 | 1.16e-03 | 7.37e-04 | 54 |
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 |
hsa04510 | Colorectum | AD | Focal adhesion | 67/2092 | 203/8465 | 4.40e-03 | 2.17e-02 | 1.38e-02 | 67 |
hsa04140 | Colorectum | AD | Autophagy - animal | 49/2092 | 141/8465 | 4.58e-03 | 2.20e-02 | 1.40e-02 | 49 |
hsa04071 | Colorectum | AD | Sphingolipid signaling pathway | 43/2092 | 121/8465 | 4.83e-03 | 2.28e-02 | 1.45e-02 | 43 |
hsa04928 | Colorectum | AD | Parathyroid hormone synthesis, secretion and action | 38/2092 | 106/8465 | 6.60e-03 | 2.77e-02 | 1.76e-02 | 38 |
hsa01521 | Colorectum | AD | EGFR tyrosine kinase inhibitor resistance | 29/2092 | 79/8465 | 1.15e-02 | 4.24e-02 | 2.71e-02 | 29 |
hsa050141 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa051311 | Colorectum | AD | Shigellosis | 109/2092 | 247/8465 | 1.09e-11 | 2.44e-10 | 1.55e-10 | 109 |
hsa041411 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
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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 |
BCL2 | SNV | Missense_Mutation | novel | c.533N>A | p.Thr178Asn | p.T178N | P10415 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
BCL2 | SNV | Missense_Mutation | novel | c.5C>T | p.Ala2Val | p.A2V | P10415 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.986) | TCGA-AA-3949-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
BCL2 | SNV | Missense_Mutation | c.82N>C | p.Tyr28His | p.Y28H | P10415 | protein_coding | tolerated(0.12) | probably_damaging(0.995) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
BCL2 | SNV | Missense_Mutation | c.91G>A | p.Asp31Asn | p.D31N | P10415 | protein_coding | tolerated(0.16) | possibly_damaging(0.491) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD | |
BCL2 | SNV | Missense_Mutation | novel | c.622N>T | p.Pro208Ser | p.P208S | P10415 | protein_coding | tolerated(0.75) | benign(0.1) | TCGA-EY-A1GK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BCL2 | SNV | Missense_Mutation | novel | c.101A>G | p.Asp34Gly | p.D34G | P10415 | protein_coding | tolerated(0.09) | benign(0.001) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
BCL2 | SNV | Missense_Mutation | c.50A>T | p.Lys17Met | p.K17M | P10415 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-44-7670-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD | |
BCL2 | SNV | Missense_Mutation | c.345N>A | p.Met115Ile | p.M115I | P10415 | protein_coding | tolerated(0.05) | benign(0.442) | TCGA-55-6969-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
BCL2 | SNV | Missense_Mutation | c.10G>C | p.Ala4Pro | p.A4P | P10415 | protein_coding | tolerated(0.47) | benign(0.013) | TCGA-67-3774-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BCL2 | SNV | Missense_Mutation | c.642N>T | p.Trp214Cys | p.W214C | P10415 | protein_coding | deleterious(0) | probably_damaging(0.921) | TCGA-91-A4BC-01 | Lung | lung adenocarcinoma | Male | <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 |
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | HYDROQUINONE | HYDROQUINONE | 10220568 | |
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | PENTOXIFYLLINE | PENTOXIFYLLINE | 11836847 | |
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | ENDOTHELIN RECEPTOR ANTAGONIST | 16741044 | ||
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | FAS LIGAND | 10432288 | ||
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | Indole-based analog 3 | |||
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | SELENIUM | 12168721,15485790 | ||
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | ERYTHROMYCIN | ERYTHROMYCIN | 17007374 | |
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | DES | DIETHYLSTILBESTROL | 15545218 | |
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | TAZAROTENE | TAZAROTENE | 16109552 | |
596 | BCL2 | CLINICALLY ACTIONABLE, DRUGGABLE GENOME, DRUG RESISTANCE | DOLASTATIN 10 | 9615758 |
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