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Gene: BACH2 |
Gene summary for BACH2 |
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Gene information | Species | Human | Gene symbol | BACH2 | Gene ID | 60468 |
Gene name | BTB domain and CNC homolog 2 | |
Gene Alias | BTBD25 | |
Cytomap | 6q15 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q9BYV9 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
60468 | BACH2 | RNA-P17T-P17T-4 | Human | Lung | IAC | 1.48e-03 | 5.89e-01 | 0.343 |
60468 | BACH2 | RNA-P17T-P17T-6 | Human | Lung | IAC | 1.13e-06 | 7.81e-01 | 0.3385 |
60468 | BACH2 | RNA-P17T-P17T-8 | Human | Lung | IAC | 1.55e-04 | 7.06e-01 | 0.3329 |
60468 | BACH2 | GSM5252131_BPH340PrSF_Via | Human | Prostate | BPH | 7.08e-05 | 2.52e-01 | -0.2126 |
60468 | BACH2 | GSM5252132_BPH389PrGF | Human | Prostate | BPH | 7.36e-03 | 3.54e-01 | -0.2247 |
60468 | BACH2 | 047563_1562-all-cells | Human | Prostate | BPH | 3.22e-63 | 1.17e+00 | 0.0791 |
60468 | BACH2 | 048752_1579-all-cells | Human | Prostate | BPH | 4.57e-95 | 1.50e+00 | 0.1008 |
60468 | BACH2 | 052095_1628-all-cells | Human | Prostate | BPH | 7.34e-45 | 1.04e+00 | 0.1032 |
60468 | BACH2 | 052097_1595-all-cells | Human | Prostate | BPH | 3.95e-92 | 1.53e+00 | 0.0972 |
60468 | BACH2 | 052099_1652-all-cells | Human | Prostate | BPH | 6.96e-72 | 1.49e+00 | 0.1038 |
60468 | BACH2 | P1_S1_AK | Human | Skin | AK | 6.91e-47 | 9.02e-01 | -0.3399 |
60468 | BACH2 | P2_S3_AK | Human | Skin | AK | 7.02e-34 | 7.18e-01 | -0.3287 |
60468 | BACH2 | P2_S4_SCCIS | Human | Skin | SCCIS | 1.32e-41 | 7.58e-01 | -0.3043 |
60468 | BACH2 | P3_S6_AK | Human | Skin | AK | 3.38e-13 | 4.68e-01 | -0.3256 |
60468 | BACH2 | P4_S8_cSCC | Human | Skin | cSCC | 6.04e-05 | 2.08e-01 | -0.3095 |
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∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00069138 | Lung | IAC | nucleocytoplasmic transport | 63/2061 | 301/18723 | 3.50e-07 | 2.54e-05 | 63 |
GO:00511698 | Lung | IAC | nuclear transport | 63/2061 | 301/18723 | 3.50e-07 | 2.54e-05 | 63 |
GO:000691315 | Prostate | BPH | nucleocytoplasmic transport | 92/3107 | 301/18723 | 1.09e-09 | 4.84e-08 | 92 |
GO:005116915 | Prostate | BPH | nuclear transport | 92/3107 | 301/18723 | 1.09e-09 | 4.84e-08 | 92 |
GO:00511708 | Prostate | BPH | import into nucleus | 48/3107 | 159/18723 | 1.42e-05 | 1.85e-04 | 48 |
GO:000691320 | Skin | AK | nucleocytoplasmic transport | 69/1910 | 301/18723 | 7.63e-11 | 1.29e-08 | 69 |
GO:005116920 | Skin | AK | nuclear transport | 69/1910 | 301/18723 | 7.63e-11 | 1.29e-08 | 69 |
GO:005117015 | Skin | AK | import into nucleus | 33/1910 | 159/18723 | 5.59e-05 | 8.47e-04 | 33 |
GO:0006913111 | Skin | SCCIS | nucleocytoplasmic transport | 28/919 | 301/18723 | 9.23e-04 | 1.18e-02 | 28 |
GO:0051169111 | Skin | SCCIS | nuclear transport | 28/919 | 301/18723 | 9.23e-04 | 1.18e-02 | 28 |
GO:000691324 | Skin | cSCC | nucleocytoplasmic transport | 162/4864 | 301/18723 | 4.20e-25 | 1.10e-22 | 162 |
GO:005116924 | Skin | cSCC | nuclear transport | 162/4864 | 301/18723 | 4.20e-25 | 1.10e-22 | 162 |
GO:005117016 | Skin | cSCC | import into nucleus | 77/4864 | 159/18723 | 9.17e-10 | 3.58e-08 | 77 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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∗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 |
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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 |
BACH2 | SNV | Missense_Mutation | rs760300804 | c.2320G>A | p.Ala774Thr | p.A774T | Q9BYV9 | protein_coding | tolerated(0.61) | benign(0) | TCGA-D8-A27P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BACH2 | SNV | Missense_Mutation | c.1573N>A | p.Ser525Thr | p.S525T | Q9BYV9 | protein_coding | deleterious(0.01) | probably_damaging(0.985) | TCGA-E2-A1IG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
BACH2 | SNV | Missense_Mutation | c.244N>T | p.Val82Phe | p.V82F | Q9BYV9 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-E2-A1LG-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
BACH2 | SNV | Missense_Mutation | c.958N>T | p.Pro320Ser | p.P320S | Q9BYV9 | protein_coding | tolerated_low_confidence(0.2) | benign(0.003) | TCGA-E9-A243-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD | |
BACH2 | insertion | In_Frame_Ins | novel | c.52_53insCTCCATTACCAC | p.Val18delinsAlaProLeuProLeu | p.V18delinsAPLPL | Q9BYV9 | protein_coding | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
BACH2 | insertion | Frame_Shift_Ins | novel | c.51_52insTTCGTATCCTTGTTACATACTCAAAATAAAAT | p.Val18PhefsTer33 | p.V18Ffs*33 | Q9BYV9 | protein_coding | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
BACH2 | insertion | Nonsense_Mutation | novel | c.35_36insGGAGGCTGAGGAGGGAGGATTGCTTGAGCCCAGGAGATCGAGGCTG | p.Tyr12Ter | p.Y12* | Q9BYV9 | protein_coding | TCGA-A8-A0A2-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
BACH2 | insertion | Frame_Shift_Ins | novel | c.1201_1202insTTCATCACCCTCATCCTTGCCCTTCA | p.Glu401ValfsTer40 | p.E401Vfs*40 | Q9BYV9 | protein_coding | TCGA-BH-A0B8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | ||
BACH2 | insertion | Frame_Shift_Ins | novel | c.366_367insATGAGCCTGACGCCAAGGACAGAGCGGGGGATGTCGAGAT | p.Asp123MetfsTer14 | p.D123Mfs*14 | Q9BYV9 | protein_coding | TCGA-BH-A0DP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | ||
BACH2 | deletion | Frame_Shift_Del | novel | c.2397delN | p.Asp800ThrfsTer19 | p.D800Tfs*19 | Q9BYV9 | protein_coding | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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