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Gene: CA12 |
Gene summary for CA12 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CA12 | Gene ID | 771 |
| Gene name | carbonic anhydrase 12 | |
| Gene Alias | CA-XII | |
| Cytomap | 15q22.2 | |
| Gene Type | protein-coding | GO ID | GO:0006730 | UniProtAcc | O43570 |
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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 |
| 771 | CA12 | GSM4909281 | Human | Breast | IDC | 2.28e-14 | -3.20e-01 | 0.21 |
| 771 | CA12 | GSM4909282 | Human | Breast | IDC | 4.89e-14 | -3.20e-01 | -0.0288 |
| 771 | CA12 | GSM4909285 | Human | Breast | IDC | 4.74e-15 | -3.25e-01 | 0.21 |
| 771 | CA12 | GSM4909286 | Human | Breast | IDC | 7.93e-18 | -3.29e-01 | 0.1081 |
| 771 | CA12 | GSM4909287 | Human | Breast | IDC | 2.58e-09 | -3.02e-01 | 0.2057 |
| 771 | CA12 | GSM4909288 | Human | Breast | IDC | 7.22e-03 | -3.29e-01 | 0.0988 |
| 771 | CA12 | GSM4909290 | Human | Breast | IDC | 6.09e-06 | -3.06e-01 | 0.2096 |
| 771 | CA12 | GSM4909291 | Human | Breast | IDC | 4.86e-02 | 3.08e-01 | 0.1753 |
| 771 | CA12 | GSM4909294 | Human | Breast | IDC | 1.09e-06 | -2.90e-01 | 0.2022 |
| 771 | CA12 | GSM4909295 | Human | Breast | IDC | 4.02e-04 | -3.18e-01 | 0.0898 |
| 771 | CA12 | GSM4909296 | Human | Breast | IDC | 1.50e-06 | -1.31e-01 | 0.1524 |
| 771 | CA12 | GSM4909297 | Human | Breast | IDC | 2.10e-09 | 2.14e-02 | 0.1517 |
| 771 | CA12 | GSM4909301 | Human | Breast | IDC | 2.03e-16 | 5.09e-01 | 0.1577 |
| 771 | CA12 | GSM4909302 | Human | Breast | IDC | 1.40e-37 | 8.57e-01 | 0.1545 |
| 771 | CA12 | GSM4909304 | Human | Breast | IDC | 5.33e-15 | 5.03e-01 | 0.1636 |
| 771 | CA12 | GSM4909306 | Human | Breast | IDC | 2.43e-03 | 2.47e-01 | 0.1564 |
| 771 | CA12 | GSM4909307 | Human | Breast | IDC | 1.28e-18 | 5.37e-01 | 0.1569 |
| 771 | CA12 | GSM4909308 | Human | Breast | IDC | 2.00e-37 | 7.46e-01 | 0.158 |
| 771 | CA12 | GSM4909311 | Human | Breast | IDC | 5.42e-20 | -1.50e-01 | 0.1534 |
| 771 | CA12 | GSM4909312 | Human | Breast | IDC | 7.52e-06 | -8.35e-02 | 0.1552 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Breast |  | IDC: Invasive ductal carcinoma |
| DCIS: Ductal carcinoma in situ | ||
| Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers | ||
| Cervix |  | CC: Cervix cancer |
| HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions | ||
| N_HPV: HPV-infected normal cervix | ||
| 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 | ||
| Endometrium |  | AEH: Atypical endometrial hyperplasia |
| EEC: Endometrioid Cancer | ||
| 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 | ||
| Oral Cavity |  | EOLP: Erosive Oral lichen planus |
| LP: leukoplakia | ||
| NEOLP: Non-erosive oral lichen planus | ||
| OSCC: Oral squamous cell carcinoma | ||
| 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:0006730 | Colorectum | AD | one-carbon metabolic process | 18/3918 | 40/18723 | 5.36e-04 | 5.74e-03 | 18 |
| GO:00067301 | Colorectum | SER | one-carbon metabolic process | 15/2897 | 40/18723 | 5.71e-04 | 7.86e-03 | 15 |
| GO:00067302 | Colorectum | MSS | one-carbon metabolic process | 15/3467 | 40/18723 | 3.72e-03 | 2.73e-02 | 15 |
| GO:0048875 | Lung | IAC | chemical homeostasis within a tissue | 11/2061 | 14/18723 | 7.44e-09 | 1.05e-06 | 11 |
| GO:0043129 | Lung | IAC | surfactant homeostasis | 10/2061 | 12/18723 | 1.37e-08 | 1.77e-06 | 10 |
| GO:00020648 | Lung | IAC | epithelial cell development | 52/2061 | 220/18723 | 6.75e-08 | 6.91e-06 | 52 |
| GO:00726598 | Lung | IAC | protein localization to plasma membrane | 60/2061 | 284/18723 | 4.74e-07 | 3.10e-05 | 60 |
| GO:19907787 | Lung | IAC | protein localization to cell periphery | 66/2061 | 333/18723 | 1.44e-06 | 7.22e-05 | 66 |
| GO:00308562 | Lung | IAC | regulation of epithelial cell differentiation | 34/2061 | 154/18723 | 5.40e-05 | 1.21e-03 | 34 |
| GO:00224078 | Lung | IAC | regulation of cell-cell adhesion | 76/2061 | 448/18723 | 8.16e-05 | 1.68e-03 | 76 |
| GO:0045616 | Lung | IAC | regulation of keratinocyte differentiation | 13/2061 | 37/18723 | 9.33e-05 | 1.87e-03 | 13 |
| GO:00323867 | Lung | IAC | regulation of intracellular transport | 60/2061 | 337/18723 | 1.16e-04 | 2.22e-03 | 60 |
| GO:00435882 | Lung | IAC | skin development | 49/2061 | 263/18723 | 1.56e-04 | 2.82e-03 | 49 |
| GO:0045604 | Lung | IAC | regulation of epidermal cell differentiation | 16/2061 | 58/18723 | 3.85e-04 | 5.87e-03 | 16 |
| GO:00097438 | Lung | IAC | response to carbohydrate | 46/2061 | 253/18723 | 4.28e-04 | 6.37e-03 | 46 |
| GO:0045682 | Lung | IAC | regulation of epidermis development | 17/2061 | 65/18723 | 5.07e-04 | 7.33e-03 | 17 |
| GO:00099135 | Lung | IAC | epidermal cell differentiation | 37/2061 | 202/18723 | 1.29e-03 | 1.45e-02 | 37 |
| GO:00323887 | Lung | IAC | positive regulation of intracellular transport | 37/2061 | 202/18723 | 1.29e-03 | 1.45e-02 | 37 |
| GO:00018947 | Lung | IAC | tissue homeostasis | 46/2061 | 268/18723 | 1.50e-03 | 1.60e-02 | 46 |
| GO:0030216 | Lung | IAC | keratinocyte differentiation | 27/2061 | 139/18723 | 2.34e-03 | 2.28e-02 | 27 |
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| 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 |
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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 |
| CA12 | SNV | Missense_Mutation | c.65C>T | p.Ser22Phe | p.S22F | O43570 | protein_coding | tolerated(0.07) | possibly_damaging(0.707) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
| CA12 | deletion | Frame_Shift_Del | novel | c.34_49delCTCCTGCTGGTGATCT | p.Leu12Ter | p.L12* | O43570 | protein_coding | TCGA-LL-A5YP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | ||
| CA12 | SNV | Missense_Mutation | c.358N>A | p.Leu120Met | p.L120M | O43570 | protein_coding | tolerated(0.16) | possibly_damaging(0.775) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CA12 | SNV | Missense_Mutation | novel | c.421N>A | p.Ala141Thr | p.A141T | O43570 | protein_coding | deleterious(0.01) | probably_damaging(0.99) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CA12 | SNV | Missense_Mutation | c.542N>T | p.Pro181Leu | p.P181L | O43570 | protein_coding | deleterious(0) | possibly_damaging(0.834) | TCGA-AD-A5EJ-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CA12 | SNV | Missense_Mutation | novel | c.977N>C | p.Leu326Pro | p.L326P | O43570 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-AZ-6603-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| CA12 | SNV | Missense_Mutation | c.485A>G | p.Asn162Ser | p.N162S | O43570 | protein_coding | deleterious(0.01) | benign(0.007) | TCGA-F4-6570-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CA12 | SNV | Missense_Mutation | rs769313979 | c.658N>T | p.Arg220Cys | p.R220C | O43570 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| CA12 | SNV | Missense_Mutation | novel | c.431N>C | p.Leu144Pro | p.L144P | O43570 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
| CA12 | SNV | Missense_Mutation | novel | c.239A>C | p.Asn80Thr | p.N80T | O43570 | protein_coding | deleterious(0) | benign(0.243) | 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 |
| 771 | CA12 | DRUGGABLE GENOME | Salicyclic acid | |||
| 771 | CA12 | DRUGGABLE GENOME | celecoxib | CELECOXIB | 22336956 | |
| 771 | CA12 | DRUGGABLE GENOME | inhibitor | CHEMBL1200814 | ACETAZOLAMIDE SODIUM | |
| 771 | CA12 | DRUGGABLE GENOME | COUMATE | |||
| 771 | CA12 | DRUGGABLE GENOME | Curcumin | CURCUMIN | ||
| 771 | CA12 | DRUGGABLE GENOME | FERULIC ACID | |||
| 771 | CA12 | DRUGGABLE GENOME | PARABEN | PARABEN | ||
| 771 | CA12 | DRUGGABLE GENOME | ACETAZOLAMIDE | ACETAZOLAMIDE | ||
| 771 | CA12 | DRUGGABLE GENOME | zonisamide | ZONISAMIDE | 21278619 | |
| 771 | CA12 | DRUGGABLE GENOME | ACETAZOLAMIDE | ACETAZOLAMIDE |
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