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Gene: BAK1 |
Gene summary for BAK1 |
Gene summary. |
Gene information | Species | Human | Gene symbol | BAK1 | Gene ID | 578 |
Gene name | BCL2 antagonist/killer 1 | |
Gene Alias | BAK | |
Cytomap | 6p21.31 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | A0A0S2Z391 |
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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 |
578 | BAK1 | HTA11_2487_2000001011 | Human | Colorectum | SER | 7.75e-10 | 3.64e-01 | -0.1808 |
578 | BAK1 | HTA11_347_2000001011 | Human | Colorectum | AD | 3.98e-08 | 2.24e-01 | -0.1954 |
578 | BAK1 | HTA11_2112_2000001011 | Human | Colorectum | SER | 3.40e-09 | 7.94e-01 | -0.2196 |
578 | BAK1 | HTA11_696_2000001011 | Human | Colorectum | AD | 1.13e-07 | 2.74e-01 | -0.1464 |
578 | BAK1 | HTA11_866_2000001011 | Human | Colorectum | AD | 3.56e-02 | 1.59e-01 | -0.1001 |
578 | BAK1 | HTA11_1391_2000001011 | Human | Colorectum | AD | 8.51e-16 | 4.63e-01 | -0.059 |
578 | BAK1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 1.82e-03 | 3.95e-01 | -0.1462 |
578 | BAK1 | HTA11_10623_2000001011 | Human | Colorectum | AD | 4.12e-02 | 2.54e-01 | -0.0177 |
578 | BAK1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 6.02e-06 | 2.34e-01 | 0.294 |
578 | BAK1 | LZE4T | Human | Esophagus | ESCC | 1.12e-02 | 5.17e-02 | 0.0811 |
578 | BAK1 | LZE7T | Human | Esophagus | ESCC | 1.02e-07 | 1.83e-01 | 0.0667 |
578 | BAK1 | LZE8T | Human | Esophagus | ESCC | 1.74e-05 | 1.14e-01 | 0.067 |
578 | BAK1 | LZE20T | Human | Esophagus | ESCC | 2.73e-02 | 8.91e-02 | 0.0662 |
578 | BAK1 | LZE22T | Human | Esophagus | ESCC | 1.81e-03 | 1.85e-01 | 0.068 |
578 | BAK1 | LZE24T | Human | Esophagus | ESCC | 6.74e-04 | 2.22e-01 | 0.0596 |
578 | BAK1 | P2T-E | Human | Esophagus | ESCC | 4.21e-15 | 2.42e-01 | 0.1177 |
578 | BAK1 | P4T-E | Human | Esophagus | ESCC | 4.80e-09 | 1.59e-01 | 0.1323 |
578 | BAK1 | P5T-E | Human | Esophagus | ESCC | 1.57e-19 | 2.36e-01 | 0.1327 |
578 | BAK1 | P8T-E | Human | Esophagus | ESCC | 1.41e-09 | 3.89e-02 | 0.0889 |
578 | BAK1 | P10T-E | Human | Esophagus | ESCC | 4.31e-12 | 1.09e-01 | 0.116 |
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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:0032469110 | Esophagus | ESCC | endoplasmic reticulum calcium ion homeostasis | 21/8552 | 25/18723 | 9.12e-05 | 6.54e-04 | 21 |
GO:000963620 | Esophagus | ESCC | response to toxic substance | 150/8552 | 262/18723 | 1.00e-04 | 7.12e-04 | 150 |
GO:00712606 | Esophagus | ESCC | cellular response to mechanical stimulus | 54/8552 | 81/18723 | 1.09e-04 | 7.64e-04 | 54 |
GO:190010110 | Esophagus | ESCC | regulation of endoplasmic reticulum unfolded protein response | 24/8552 | 30/18723 | 1.27e-04 | 8.67e-04 | 24 |
GO:00311009 | Esophagus | ESCC | animal organ regeneration | 50/8552 | 76/18723 | 3.17e-04 | 1.88e-03 | 50 |
GO:000961216 | Esophagus | ESCC | response to mechanical stimulus | 124/8552 | 216/18723 | 3.30e-04 | 1.94e-03 | 124 |
GO:00902004 | Esophagus | ESCC | positive regulation of release of cytochrome c from mitochondria | 22/8552 | 28/18723 | 3.95e-04 | 2.26e-03 | 22 |
GO:00714821 | Esophagus | ESCC | cellular response to light stimulus | 75/8552 | 123/18723 | 4.45e-04 | 2.50e-03 | 75 |
GO:19001035 | Esophagus | ESCC | positive regulation of endoplasmic reticulum unfolded protein response | 12/8552 | 13/18723 | 6.18e-04 | 3.32e-03 | 12 |
GO:00364986 | Esophagus | ESCC | IRE1-mediated unfolded protein response | 16/8552 | 19/18723 | 6.45e-04 | 3.43e-03 | 16 |
GO:00718871 | Esophagus | ESCC | leukocyte apoptotic process | 65/8552 | 106/18723 | 8.39e-04 | 4.32e-03 | 65 |
GO:00017832 | Esophagus | ESCC | B cell apoptotic process | 19/8552 | 24/18723 | 8.53e-04 | 4.38e-03 | 19 |
GO:19031317 | Esophagus | ESCC | mononuclear cell differentiation | 226/8552 | 426/18723 | 1.20e-03 | 5.88e-03 | 226 |
GO:00702271 | Esophagus | ESCC | lymphocyte apoptotic process | 46/8552 | 72/18723 | 1.39e-03 | 6.62e-03 | 46 |
GO:00487367 | Esophagus | ESCC | appendage development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
GO:00601737 | Esophagus | ESCC | limb development | 98/8552 | 172/18723 | 1.83e-03 | 8.37e-03 | 98 |
GO:19038943 | Esophagus | ESCC | regulation of IRE1-mediated unfolded protein response | 12/8552 | 14/18723 | 2.51e-03 | 1.08e-02 | 12 |
GO:00080532 | Esophagus | ESCC | mitochondrial fusion | 20/8552 | 27/18723 | 2.61e-03 | 1.11e-02 | 20 |
GO:0097305111 | Esophagus | ESCC | response to alcohol | 138/8552 | 253/18723 | 2.70e-03 | 1.14e-02 | 138 |
GO:00702421 | Esophagus | ESCC | thymocyte apoptotic process | 13/8552 | 16/18723 | 4.05e-03 | 1.62e-02 | 13 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
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 |
hsa05213 | Colorectum | AD | Endometrial cancer | 29/2092 | 58/8465 | 2.69e-05 | 2.57e-04 | 1.64e-04 | 29 |
hsa05216 | Colorectum | AD | Thyroid cancer | 21/2092 | 37/8465 | 3.05e-05 | 2.76e-04 | 1.76e-04 | 21 |
hsa05210 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
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 |
hsa05160 | Colorectum | AD | Hepatitis C | 54/2092 | 157/8465 | 3.87e-03 | 1.96e-02 | 1.25e-02 | 54 |
hsa05212 | Colorectum | AD | Pancreatic cancer | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa050221 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa041411 | Colorectum | AD | Protein processing in endoplasmic reticulum | 80/2092 | 174/8465 | 5.96e-10 | 1.25e-08 | 7.96e-09 | 80 |
hsa051321 | Colorectum | AD | Salmonella infection | 102/2092 | 249/8465 | 7.65e-09 | 1.28e-07 | 8.17e-08 | 102 |
hsa051301 | Colorectum | AD | Pathogenic Escherichia coli infection | 79/2092 | 197/8465 | 1.05e-06 | 1.36e-05 | 8.65e-06 | 79 |
hsa052131 | Colorectum | AD | Endometrial cancer | 29/2092 | 58/8465 | 2.69e-05 | 2.57e-04 | 1.64e-04 | 29 |
hsa052161 | Colorectum | AD | Thyroid cancer | 21/2092 | 37/8465 | 3.05e-05 | 2.76e-04 | 1.76e-04 | 21 |
hsa052101 | Colorectum | AD | Colorectal cancer | 35/2092 | 86/8465 | 7.54e-04 | 5.49e-03 | 3.50e-03 | 35 |
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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 |
BAK1 | SNV | Missense_Mutation | c.617N>A | p.Arg206Gln | p.R206Q | Q16611 | protein_coding | tolerated(0.17) | benign(0.435) | TCGA-A8-A09G-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
BAK1 | SNV | Missense_Mutation | novel | c.87G>T | p.Gln29His | p.Q29H | Q16611 | protein_coding | deleterious(0.02) | benign(0.031) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BAK1 | SNV | Missense_Mutation | novel | c.268G>A | p.Asp90Asn | p.D90N | Q16611 | protein_coding | tolerated(0.08) | benign(0.079) | TCGA-LQ-A4E4-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | PD |
BAK1 | SNV | Missense_Mutation | novel | c.125N>A | p.Arg42His | p.R42H | Q16611 | protein_coding | deleterious(0.03) | probably_damaging(0.961) | TCGA-EK-A3GM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
BAK1 | SNV | Missense_Mutation | c.623N>A | p.Phe208Tyr | p.F208Y | Q16611 | protein_coding | tolerated(0.05) | benign(0.003) | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
BAK1 | SNV | Missense_Mutation | novel | c.415N>A | p.Ala139Thr | p.A139T | Q16611 | protein_coding | deleterious(0.05) | probably_damaging(0.992) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
BAK1 | SNV | Missense_Mutation | c.624N>A | p.Phe208Leu | p.F208L | Q16611 | protein_coding | tolerated(0.08) | benign(0.054) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR | |
BAK1 | SNV | Missense_Mutation | novel | c.260G>A | p.Arg87Gln | p.R87Q | Q16611 | protein_coding | tolerated(0.47) | benign(0.001) | TCGA-AJ-A3EL-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BAK1 | SNV | Missense_Mutation | c.182N>C | p.Val61Ala | p.V61A | Q16611 | protein_coding | tolerated(0.78) | benign(0) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
BAK1 | SNV | Missense_Mutation | rs778171445 | c.263N>A | p.Arg88His | p.R88H | Q16611 | protein_coding | deleterious(0) | probably_damaging(0.956) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | 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 |
578 | BAK1 | TUMOR SUPPRESSOR, DRUGGABLE GENOME | KERACYANIN | KERACYANIN | 17360708 |
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