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Gene: CA1 |
Gene summary for CA1 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CA1 | Gene ID | 759 |
| Gene name | carbonic anhydrase 1 | |
| Gene Alias | CA-I | |
| Cytomap | 8q21.2 | |
| Gene Type | protein-coding | GO ID | GO:0006730 | UniProtAcc | P00915 |
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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 |
| 759 | CA1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 4.47e-04 | -2.33e-01 | 0.0155 |
| 759 | CA1 | HTA11_347_2000001011 | Human | Colorectum | AD | 5.04e-27 | 2.26e+00 | -0.1954 |
| 759 | CA1 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.31e-02 | 2.07e+00 | -0.2602 |
| 759 | CA1 | HTA11_696_2000001011 | Human | Colorectum | AD | 8.28e-14 | 1.10e+00 | -0.1464 |
| 759 | CA1 | HTA11_866_2000001011 | Human | Colorectum | AD | 3.61e-02 | 6.63e-01 | -0.1001 |
| 759 | CA1 | HTA11_2992_2000001011 | Human | Colorectum | SER | 1.28e-09 | 3.25e+00 | -0.1706 |
| 759 | CA1 | HTA11_5212_2000001011 | Human | Colorectum | AD | 2.56e-25 | 3.91e+00 | -0.2061 |
| 759 | CA1 | HTA11_5216_2000001011 | Human | Colorectum | SER | 1.01e-06 | 2.38e+00 | -0.1462 |
| 759 | CA1 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.76e-04 | -2.43e-01 | 0.096 |
| 759 | CA1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 9.06e-05 | -2.30e-01 | 0.0674 |
| 759 | CA1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 6.27e-03 | -2.40e-01 | 0.294 |
| 759 | CA1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 1.49e-05 | -2.46e-01 | 0.3859 |
| 759 | CA1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 5.76e-05 | -2.45e-01 | 0.3005 |
| 759 | CA1 | A001-C-207 | Human | Colorectum | FAP | 6.53e-06 | -2.50e-01 | 0.1278 |
| 759 | CA1 | A002-C-201 | Human | Colorectum | FAP | 4.40e-09 | -2.50e-01 | 0.0324 |
| 759 | CA1 | A002-C-203 | Human | Colorectum | FAP | 9.63e-08 | -2.47e-01 | 0.2786 |
| 759 | CA1 | A001-C-119 | Human | Colorectum | FAP | 1.41e-04 | -2.50e-01 | -0.1557 |
| 759 | CA1 | A001-C-108 | Human | Colorectum | FAP | 2.16e-03 | -2.07e-01 | -0.0272 |
| 759 | CA1 | A002-C-205 | Human | Colorectum | FAP | 1.28e-05 | -2.21e-01 | -0.1236 |
| 759 | CA1 | A014-C-108 | Human | Colorectum | FAP | 2.37e-02 | -2.31e-01 | -0.124 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Colorectum (GSE201348) |  | FAP: Familial adenomatous polyposis |
| CRC: Colorectal cancer | ||
| Colorectum (HTA11) |  | AD: Adenomas |
| SER: Sessile serrated lesions | ||
| MSI-H: Microsatellite-high colorectal cancer | ||
| MSS: Microsatellite stable colorectal cancer | ||
| GC |  | CAG: Chronic atrophic gastritis |
| CAG with IM: Chronic atrophic gastritis with intestinal metaplasia | ||
| CSG: Chronic superficial gastritis | ||
| GC: Gastric cancer | ||
| SIM: Severe intestinal metaplasia | ||
| WIM: Wild intestinal metaplasia |
| ∗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:00510566 | Cervix | CC | regulation of small GTPase mediated signal transduction | 75/2311 | 302/18723 | 1.54e-09 | 1.74e-07 | 75 |
| GO:004325410 | Cervix | CC | regulation of protein-containing complex assembly | 96/2311 | 428/18723 | 2.91e-09 | 3.05e-07 | 96 |
| GO:00512359 | Cervix | CC | maintenance of location | 78/2311 | 327/18723 | 5.18e-09 | 4.92e-07 | 78 |
| GO:00072656 | Cervix | CC | Ras protein signal transduction | 79/2311 | 337/18723 | 9.49e-09 | 7.77e-07 | 79 |
| GO:00022379 | Cervix | CC | response to molecule of bacterial origin | 78/2311 | 363/18723 | 5.55e-07 | 2.06e-05 | 78 |
| GO:00324969 | Cervix | CC | response to lipopolysaccharide | 74/2311 | 343/18723 | 9.15e-07 | 3.25e-05 | 74 |
| GO:003133410 | Cervix | CC | positive regulation of protein-containing complex assembly | 55/2311 | 237/18723 | 2.25e-06 | 6.73e-05 | 55 |
| GO:003166710 | Cervix | CC | response to nutrient levels | 92/2311 | 474/18723 | 5.80e-06 | 1.42e-04 | 92 |
| GO:00072666 | Cervix | CC | Rho protein signal transduction | 35/2311 | 137/18723 | 1.77e-05 | 3.33e-04 | 35 |
| GO:00465785 | Cervix | CC | regulation of Ras protein signal transduction | 44/2311 | 189/18723 | 2.05e-05 | 3.73e-04 | 44 |
| GO:00301008 | Cervix | CC | regulation of endocytosis | 47/2311 | 211/18723 | 3.65e-05 | 5.82e-04 | 47 |
| GO:00458077 | Cervix | CC | positive regulation of endocytosis | 27/2311 | 100/18723 | 5.55e-05 | 8.10e-04 | 27 |
| GO:00161977 | Cervix | CC | endosomal transport | 48/2311 | 230/18723 | 1.65e-04 | 1.97e-03 | 48 |
| GO:00350235 | Cervix | CC | regulation of Rho protein signal transduction | 22/2311 | 86/18723 | 5.93e-04 | 5.60e-03 | 22 |
| GO:00714042 | Cervix | CC | cellular response to low-density lipoprotein particle stimulus | 9/2311 | 22/18723 | 7.19e-04 | 6.49e-03 | 9 |
| GO:00712228 | Cervix | CC | cellular response to lipopolysaccharide | 41/2311 | 209/18723 | 1.69e-03 | 1.29e-02 | 41 |
| GO:00094109 | Cervix | CC | response to xenobiotic stimulus | 78/2311 | 462/18723 | 2.39e-03 | 1.70e-02 | 78 |
| GO:00712168 | Cervix | CC | cellular response to biotic stimulus | 46/2311 | 246/18723 | 2.53e-03 | 1.76e-02 | 46 |
| GO:00160506 | Cervix | CC | vesicle organization | 54/2311 | 300/18723 | 2.71e-03 | 1.85e-02 | 54 |
| GO:00712198 | Cervix | CC | cellular response to molecule of bacterial origin | 42/2311 | 221/18723 | 2.79e-03 | 1.87e-02 | 42 |
| Page: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 60 61 62 63 64 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
| ∗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 |
| CA1 | SNV | Missense_Mutation | c.539T>G | p.Phe180Cys | p.F180C | P00915 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BH-A1FJ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
| CA1 | SNV | Missense_Mutation | novel | c.83N>G | p.Asn28Ser | p.N28S | P00915 | protein_coding | deleterious(0.02) | benign(0.007) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| CA1 | SNV | Missense_Mutation | novel | c.13G>A | p.Asp5Asn | p.D5N | P00915 | protein_coding | tolerated(0.97) | benign(0) | TCGA-EA-A97N-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
| CA1 | SNV | Missense_Mutation | rs141945543 | c.715G>A | p.Ala239Thr | p.A239T | P00915 | protein_coding | tolerated(0.3) | benign(0.333) | TCGA-AZ-4615-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | PD |
| CA1 | SNV | Missense_Mutation | c.208N>C | p.Asn70His | p.N70H | P00915 | protein_coding | deleterious(0.02) | possibly_damaging(0.733) | TCGA-CA-6718-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | PD | |
| CA1 | insertion | Frame_Shift_Ins | novel | c.192_193insG | p.His65AlafsTer8 | p.H65Afs*8 | P00915 | protein_coding | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | ||
| CA1 | SNV | Missense_Mutation | c.40C>A | p.Pro14Thr | p.P14T | P00915 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
| CA1 | SNV | Missense_Mutation | c.358N>A | p.His120Asn | p.H120N | P00915 | protein_coding | deleterious(0.01) | probably_damaging(1) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD | |
| CA1 | SNV | Missense_Mutation | rs121909578 | c.740N>A | p.Arg247His | p.R247H | P00915 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
| CA1 | SNV | Missense_Mutation | novel | c.344N>G | p.Tyr115Cys | p.Y115C | P00915 | protein_coding | deleterious(0) | probably_damaging(0.972) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | 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 |
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | DICHLORPHENAMIDE | DICHLORPHENAMIDE | ||
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL1200814 | ACETAZOLAMIDE SODIUM | |
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | ZONISAMIDE | ZONISAMIDE | ||
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL166863 | POLMACOXIB | |
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | inhibitor | 178103435 | METHOCARBAMOL | |
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | inhibitor | 178102191 | ||
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | inhibitor | 381118859 | ||
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | Ethoxzolamide | ETHOXZOLAMIDE | ||
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | inhibitor | 178103398 | ACETAZOLAMIDE | |
| 759 | CA1 | DRUGGABLE GENOME, ENZYME | activator | 178100344 | HISTIDINE |
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