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Gene: BACH1 |
Gene summary for BACH1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | BACH1 | Gene ID | 571 |
| Gene name | BTB domain and CNC homolog 1 | |
| Gene Alias | BACH-1 | |
| Cytomap | 21q21.3 | |
| Gene Type | protein-coding | GO ID | GO:0000082 | UniProtAcc | O14867 |
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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 |
| 571 | BACH1 | LZE4T | Human | Esophagus | ESCC | 1.88e-13 | 2.91e-01 | 0.0811 |
| 571 | BACH1 | LZE7T | Human | Esophagus | ESCC | 1.50e-04 | 3.73e-01 | 0.0667 |
| 571 | BACH1 | LZE8T | Human | Esophagus | ESCC | 3.48e-06 | 4.21e-02 | 0.067 |
| 571 | BACH1 | LZE20T | Human | Esophagus | ESCC | 8.14e-12 | 1.80e-01 | 0.0662 |
| 571 | BACH1 | LZE22T | Human | Esophagus | ESCC | 7.59e-05 | 2.49e-01 | 0.068 |
| 571 | BACH1 | LZE24T | Human | Esophagus | ESCC | 9.67e-08 | 8.11e-02 | 0.0596 |
| 571 | BACH1 | LZE6T | Human | Esophagus | ESCC | 2.42e-06 | 1.34e-01 | 0.0845 |
| 571 | BACH1 | P1T-E | Human | Esophagus | ESCC | 1.54e-11 | 2.88e-01 | 0.0875 |
| 571 | BACH1 | P2T-E | Human | Esophagus | ESCC | 2.29e-11 | 1.66e-01 | 0.1177 |
| 571 | BACH1 | P4T-E | Human | Esophagus | ESCC | 1.05e-16 | 3.06e-01 | 0.1323 |
| 571 | BACH1 | P5T-E | Human | Esophagus | ESCC | 8.96e-16 | 1.49e-01 | 0.1327 |
| 571 | BACH1 | P8T-E | Human | Esophagus | ESCC | 5.09e-13 | 8.00e-02 | 0.0889 |
| 571 | BACH1 | P9T-E | Human | Esophagus | ESCC | 1.54e-16 | 1.23e-01 | 0.1131 |
| 571 | BACH1 | P10T-E | Human | Esophagus | ESCC | 2.61e-16 | 2.29e-01 | 0.116 |
| 571 | BACH1 | P11T-E | Human | Esophagus | ESCC | 1.06e-11 | 5.56e-01 | 0.1426 |
| 571 | BACH1 | P12T-E | Human | Esophagus | ESCC | 1.42e-11 | 2.03e-01 | 0.1122 |
| 571 | BACH1 | P15T-E | Human | Esophagus | ESCC | 2.26e-18 | 1.85e-01 | 0.1149 |
| 571 | BACH1 | P16T-E | Human | Esophagus | ESCC | 1.01e-17 | 1.25e-01 | 0.1153 |
| 571 | BACH1 | P17T-E | Human | Esophagus | ESCC | 5.24e-03 | 3.81e-01 | 0.1278 |
| 571 | BACH1 | P20T-E | Human | Esophagus | ESCC | 1.34e-09 | 1.11e-01 | 0.1124 |
| Page: 1 2 3 4 5 6 7 |
| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias | ||
| Liver |  | HCC: Hepatocellular carcinoma |
| NAFLD: Non-alcoholic fatty liver disease | ||
| Lung |  | AAH: Atypical adenomatous hyperplasia |
| AIS: Adenocarcinoma in situ | ||
| IAC: Invasive lung adenocarcinoma | ||
| MIA: Minimally invasive adenocarcinoma | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| Prostate |  | BPH: Benign Prostatic Hyperplasia |
| Skin |  | AK: Actinic keratosis |
| cSCC: Cutaneous squamous cell carcinoma | ||
| SCCIS:squamous cell carcinoma in situ | ||
| Thyroid |  | ATC: Anaplastic thyroid cancer |
| HT: Hashimoto's thyroiditis | ||
| PTC: Papillary thyroid cancer |
| ∗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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:004477216 | Esophagus | ESCC | mitotic cell cycle phase transition | 281/8552 | 424/18723 | 4.63e-18 | 4.45e-16 | 281 |
| GO:0070482111 | Esophagus | ESCC | response to oxygen levels | 218/8552 | 347/18723 | 6.91e-11 | 2.17e-09 | 218 |
| GO:0043618111 | Esophagus | ESCC | regulation of transcription from RNA polymerase II promoter in response to stress | 42/8552 | 47/18723 | 3.91e-10 | 1.05e-08 | 42 |
| GO:0043620111 | Esophagus | ESCC | regulation of DNA-templated transcription in response to stress | 46/8552 | 53/18723 | 5.17e-10 | 1.33e-08 | 46 |
| GO:0036293111 | Esophagus | ESCC | response to decreased oxygen levels | 201/8552 | 322/18723 | 8.37e-10 | 2.04e-08 | 201 |
| GO:0001666111 | Esophagus | ESCC | response to hypoxia | 192/8552 | 307/18723 | 1.59e-09 | 3.69e-08 | 192 |
| GO:00448394 | Esophagus | ESCC | cell cycle G2/M phase transition | 103/8552 | 148/18723 | 3.09e-09 | 6.67e-08 | 103 |
| GO:00000864 | Esophagus | ESCC | G2/M transition of mitotic cell cycle | 96/8552 | 137/18723 | 6.00e-09 | 1.23e-07 | 96 |
| GO:0071453110 | Esophagus | ESCC | cellular response to oxygen levels | 114/8552 | 177/18723 | 3.63e-07 | 5.06e-06 | 114 |
| GO:000008214 | Esophagus | ESCC | G1/S transition of mitotic cell cycle | 134/8552 | 214/18723 | 4.04e-07 | 5.55e-06 | 134 |
| GO:0036294110 | Esophagus | ESCC | cellular response to decreased oxygen levels | 105/8552 | 161/18723 | 4.20e-07 | 5.73e-06 | 105 |
| GO:004484314 | Esophagus | ESCC | cell cycle G1/S phase transition | 148/8552 | 241/18723 | 5.68e-07 | 7.48e-06 | 148 |
| GO:007145616 | Esophagus | ESCC | cellular response to hypoxia | 97/8552 | 151/18723 | 3.12e-06 | 3.51e-05 | 97 |
| GO:00614184 | Esophagus | ESCC | regulation of transcription from RNA polymerase II promoter in response to hypoxia | 13/8552 | 13/18723 | 3.75e-05 | 3.04e-04 | 13 |
| GO:0044772 | Liver | NAFLD | mitotic cell cycle phase transition | 67/1882 | 424/18723 | 1.25e-04 | 2.39e-03 | 67 |
| GO:0044843 | Liver | NAFLD | cell cycle G1/S phase transition | 43/1882 | 241/18723 | 1.40e-04 | 2.63e-03 | 43 |
| GO:0000082 | Liver | NAFLD | G1/S transition of mitotic cell cycle | 39/1882 | 214/18723 | 1.78e-04 | 3.14e-03 | 39 |
| GO:00436207 | Liver | NAFLD | regulation of DNA-templated transcription in response to stress | 14/1882 | 53/18723 | 5.66e-04 | 7.59e-03 | 14 |
| GO:00436187 | Liver | NAFLD | regulation of transcription from RNA polymerase II promoter in response to stress | 11/1882 | 47/18723 | 5.92e-03 | 4.47e-02 | 11 |
| GO:00447722 | Liver | HCC | mitotic cell cycle phase transition | 240/7958 | 424/18723 | 2.47e-09 | 6.84e-08 | 240 |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| Page: 1 |
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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 |
| Page: 1 |
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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 |
| BACH1 | SMC | Cervix | Healthy | CYTOR,ARID5B,AC016831.1, etc. | 8.36e-01 |  |
| BACH1 | MSC | Pancreas | ADJ | RELN,GRIK1,MIR4435-2HG, etc. | 6.41e-03 |  |
| BACH1 | MSC | Pancreas | PDAC | RELN,GRIK1,MIR4435-2HG, etc. | 1.06e-01 |  |
| BACH1 | INMON | Prostate | ADJ | AQP9,THBS1,TNIP3, etc. | 1.69e-01 |  |
| BACH1 | INMON | Prostate | BPH | AQP9,THBS1,TNIP3, etc. | 2.27e-01 |  |
| BACH1 | INMON | Prostate | Healthy | AQP9,THBS1,TNIP3, etc. | 2.03e-01 |  |
| BACH1 | INMON | Prostate | Tumor | AQP9,THBS1,TNIP3, etc. | 1.58e-01 |  |
| BACH1 | BAS | Skin | AK | SH3RF2,DIP2B,ROBO1, etc. | 2.19e-01 |  |
| ∗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. |
| Page: 1 |
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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 |
| BACH1 | SNV | Missense_Mutation | c.1220N>A | p.Ser407Asn | p.S407N | O14867 | protein_coding | tolerated(0.46) | benign(0.003) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| BACH1 | SNV | Missense_Mutation | c.1262C>T | p.Ala421Val | p.A421V | O14867 | protein_coding | tolerated(0.33) | benign(0.007) | TCGA-AR-A1AQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
| BACH1 | insertion | In_Frame_Ins | novel | c.1395_1396insGTATCA | p.Ser465_Thr466insValSer | p.S465_T466insVS | O14867 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
| BACH1 | insertion | Nonsense_Mutation | novel | c.1397_1398insAGGTGACAGTTAAAGGATTTGAACCTTTAAT | p.Leu467GlyfsTer4 | p.L467Gfs*4 | O14867 | protein_coding | TCGA-A2-A0D1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD | ||
| BACH1 | insertion | Nonsense_Mutation | novel | c.605_606insATCACTTTTAAAAATCTGAATCTTTAAAACTTTTACTGTTAGGAA | p.Ser202delinsArgSerLeuLeuLysIleTerIlePheLysThrPheThrValArgAsn | p.S202delinsRSLLKI*IFKTFTVRN | O14867 | protein_coding | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| BACH1 | insertion | Nonsense_Mutation | novel | c.517_518insAGAGAGATATG | p.Phe173Ter | p.F173* | O14867 | protein_coding | TCGA-AR-A0U0-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| BACH1 | SNV | Missense_Mutation | c.1946N>T | p.Ser649Leu | p.S649L | O14867 | protein_coding | tolerated(0.1) | benign(0.212) | TCGA-DG-A2KH-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD | |
| BACH1 | SNV | Missense_Mutation | c.965C>G | p.Ser322Cys | p.S322C | O14867 | protein_coding | deleterious(0.01) | possibly_damaging(0.533) | TCGA-EK-A2H0-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| BACH1 | SNV | Missense_Mutation | c.1756N>A | p.Glu586Lys | p.E586K | O14867 | protein_coding | deleterious(0) | probably_damaging(0.916) | TCGA-EK-A2PI-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
| BACH1 | SNV | Missense_Mutation | rs748491382 | c.1298C>G | p.Ser433Cys | p.S433C | O14867 | protein_coding | deleterious(0) | possibly_damaging(0.751) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 |
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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 |
| 571 | BACH1 | DNA REPAIR, TRANSCRIPTION FACTOR | isoniazid | ISONIAZID | 22341855,29036176 |
| Page: 1 |
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