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Gene: CA4 |
Gene summary for CA4 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | CA4 | Gene ID | 762 |
| Gene name | carbonic anhydrase 4 | |
| Gene Alias | CAIV | |
| Cytomap | 17q23.1 | |
| Gene Type | protein-coding | GO ID | GO:0006730 | UniProtAcc | P22748 |
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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 |
| 762 | CA4 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.65e-04 | -1.99e-01 | 0.0155 |
| 762 | CA4 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.27e-03 | 1.09e+00 | -0.1954 |
| 762 | CA4 | HTA11_411_2000001011 | Human | Colorectum | SER | 1.94e-06 | 1.89e+00 | -0.2602 |
| 762 | CA4 | HTA11_2112_2000001011 | Human | Colorectum | SER | 1.87e-04 | 2.20e+00 | -0.2196 |
| 762 | CA4 | HTA11_3361_2000001011 | Human | Colorectum | AD | 9.73e-05 | 1.12e+00 | -0.1207 |
| 762 | CA4 | HTA11_696_2000001011 | Human | Colorectum | AD | 3.06e-03 | 6.08e-01 | -0.1464 |
| 762 | CA4 | HTA11_5212_2000001011 | Human | Colorectum | AD | 8.11e-05 | 1.72e+00 | -0.2061 |
| 762 | CA4 | HTA11_866_3004761011 | Human | Colorectum | AD | 1.16e-03 | -1.99e-01 | 0.096 |
| 762 | CA4 | HTA11_7696_3000711011 | Human | Colorectum | AD | 1.71e-02 | -1.90e-01 | 0.0674 |
| 762 | CA4 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 3.85e-03 | -1.95e-01 | 0.3859 |
| 762 | CA4 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 4.07e-04 | -1.99e-01 | 0.3005 |
| 762 | CA4 | A002-C-010 | Human | Colorectum | FAP | 3.11e-03 | -1.95e-01 | 0.242 |
| 762 | CA4 | A002-C-201 | Human | Colorectum | FAP | 3.18e-03 | -1.86e-01 | 0.0324 |
| 762 | CA4 | A001-C-119 | Human | Colorectum | FAP | 3.29e-02 | -1.99e-01 | -0.1557 |
| 762 | CA4 | A002-C-205 | Human | Colorectum | FAP | 3.25e-05 | -1.99e-01 | -0.1236 |
| 762 | CA4 | A015-C-006 | Human | Colorectum | FAP | 1.01e-02 | -1.99e-01 | -0.0994 |
| 762 | CA4 | A015-C-202 | Human | Colorectum | FAP | 3.32e-02 | -1.86e-01 | -0.0849 |
| 762 | CA4 | A002-C-016 | Human | Colorectum | FAP | 9.04e-05 | -1.95e-01 | 0.0521 |
| 762 | CA4 | A002-C-116 | Human | Colorectum | FAP | 4.07e-04 | -1.99e-01 | -0.0452 |
| 762 | CA4 | F072B | Human | Colorectum | FAP | 4.07e-04 | -1.99e-01 | 0.257 |
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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 |
| ∗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:00485459 | Breast | Precancer | response to steroid hormone | 53/1080 | 339/18723 | 3.07e-11 | 3.66e-09 | 53 |
| GO:00160329 | Breast | Precancer | viral process | 58/1080 | 415/18723 | 3.42e-10 | 3.16e-08 | 58 |
| GO:00444039 | Breast | Precancer | biological process involved in symbiotic interaction | 42/1080 | 290/18723 | 3.40e-08 | 2.11e-06 | 42 |
| GO:00713838 | Breast | Precancer | cellular response to steroid hormone stimulus | 28/1080 | 204/18723 | 1.78e-05 | 4.26e-04 | 28 |
| GO:00342849 | Breast | Precancer | response to monosaccharide | 29/1080 | 225/18723 | 4.19e-05 | 9.00e-04 | 29 |
| GO:00097439 | Breast | Precancer | response to carbohydrate | 31/1080 | 253/18723 | 6.15e-05 | 1.25e-03 | 31 |
| GO:00425938 | Breast | Precancer | glucose homeostasis | 31/1080 | 258/18723 | 8.89e-05 | 1.69e-03 | 31 |
| GO:00335008 | Breast | Precancer | carbohydrate homeostasis | 31/1080 | 259/18723 | 9.56e-05 | 1.79e-03 | 31 |
| GO:00305217 | Breast | Precancer | androgen receptor signaling pathway | 10/1080 | 44/18723 | 1.61e-04 | 2.69e-03 | 10 |
| GO:00097469 | Breast | Precancer | response to hexose | 27/1080 | 219/18723 | 1.61e-04 | 2.69e-03 | 27 |
| GO:00224119 | Breast | Precancer | cellular component disassembly | 44/1080 | 443/18723 | 3.17e-04 | 4.51e-03 | 44 |
| GO:00097498 | Breast | Precancer | response to glucose | 25/1080 | 212/18723 | 5.46e-04 | 7.00e-03 | 25 |
| GO:00160497 | Breast | Precancer | cell growth | 46/1080 | 482/18723 | 5.63e-04 | 7.16e-03 | 46 |
| GO:00329865 | Breast | Precancer | protein-DNA complex disassembly | 6/1080 | 20/18723 | 6.99e-04 | 8.43e-03 | 6 |
| GO:00016787 | Breast | Precancer | cellular glucose homeostasis | 21/1080 | 172/18723 | 9.38e-04 | 1.06e-02 | 21 |
| GO:00305187 | Breast | Precancer | intracellular steroid hormone receptor signaling pathway | 16/1080 | 116/18723 | 1.01e-03 | 1.13e-02 | 16 |
| GO:00713337 | Breast | Precancer | cellular response to glucose stimulus | 19/1080 | 151/18723 | 1.12e-03 | 1.23e-02 | 19 |
| GO:00713228 | Breast | Precancer | cellular response to carbohydrate stimulus | 20/1080 | 163/18723 | 1.15e-03 | 1.26e-02 | 20 |
| GO:00713317 | Breast | Precancer | cellular response to hexose stimulus | 19/1080 | 153/18723 | 1.31e-03 | 1.39e-02 | 19 |
| GO:00713267 | Breast | Precancer | cellular response to monosaccharide stimulus | 19/1080 | 154/18723 | 1.42e-03 | 1.48e-02 | 19 |
| 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 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa04964 | Colorectum | AD | Proximal tubule bicarbonate reclamation | 11/2092 | 23/8465 | 1.35e-02 | 4.86e-02 | 3.10e-02 | 11 |
| hsa049641 | Colorectum | AD | Proximal tubule bicarbonate reclamation | 11/2092 | 23/8465 | 1.35e-02 | 4.86e-02 | 3.10e-02 | 11 |
| hsa049642 | Colorectum | SER | Proximal tubule bicarbonate reclamation | 10/1580 | 23/8465 | 5.33e-03 | 3.28e-02 | 2.38e-02 | 10 |
| hsa049643 | Colorectum | SER | Proximal tubule bicarbonate reclamation | 10/1580 | 23/8465 | 5.33e-03 | 3.28e-02 | 2.38e-02 | 10 |
| hsa049644 | Colorectum | CRC | Proximal tubule bicarbonate reclamation | 8/1091 | 23/8465 | 6.09e-03 | 3.04e-02 | 2.06e-02 | 8 |
| hsa049645 | Colorectum | CRC | Proximal tubule bicarbonate reclamation | 8/1091 | 23/8465 | 6.09e-03 | 3.04e-02 | 2.06e-02 | 8 |
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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. |
| 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 |
| CA4 | SNV | Missense_Mutation | rs121434552 | c.206N>A | p.Arg69His | p.R69H | P22748 | protein_coding | deleterious(0.05) | benign(0) | TCGA-AQ-A04H-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
| CA4 | SNV | Missense_Mutation | c.238A>T | p.Thr80Ser | p.T80S | P22748 | protein_coding | tolerated(0.85) | benign(0.001) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| CA4 | SNV | Missense_Mutation | rs766918079 | c.680N>T | p.Pro227Leu | p.P227L | P22748 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A576-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
| CA4 | SNV | Missense_Mutation | c.197N>C | p.Lys66Thr | p.K66T | P22748 | protein_coding | tolerated(0.06) | benign(0.081) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR | |
| CA4 | SNV | Missense_Mutation | novel | c.139C>G | p.Gln47Glu | p.Q47E | P22748 | protein_coding | tolerated(0.06) | possibly_damaging(0.483) | TCGA-VS-A8QM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
| CA4 | SNV | Missense_Mutation | rs769858478 | c.656N>A | p.Arg219His | p.R219H | P22748 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-ZJ-AB0H-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
| CA4 | SNV | Missense_Mutation | c.346C>A | p.Leu116Met | p.L116M | P22748 | protein_coding | deleterious(0.01) | probably_damaging(0.993) | TCGA-AA-3663-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
| CA4 | SNV | Missense_Mutation | rs373844529 | c.358G>A | p.Asp120Asn | p.D120N | P22748 | protein_coding | tolerated(0.61) | benign(0) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| CA4 | SNV | Missense_Mutation | rs200180434 | c.205N>T | p.Arg69Cys | p.R69C | P22748 | protein_coding | deleterious(0) | possibly_damaging(0.724) | TCGA-AD-6895-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
| CA4 | SNV | Missense_Mutation | novel | c.88N>A | p.Glu30Lys | p.E30K | P22748 | protein_coding | tolerated(1) | benign(0) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
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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 |
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | Salicyclic acid | |||
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | inhibitor | 385612193 | ||
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | inhibitor | CHEMBL19 | METHAZOLAMIDE | |
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | inhibitor | 385612194 | ||
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | inhibitor | CHEMBL18 | ETHOXZOLAMIDE | |
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | CHLOROTHIAZIDE | CHLOROTHIAZIDE | ||
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | Brinzolamide | BRINZOLAMIDE | ||
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | inhibitor | CHEMBL220492 | TOPIRAMATE | |
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | TRICHLORMETHIAZIDE | TRICHLORMETHIAZIDE | ||
| 762 | CA4 | DRUGGABLE GENOME, ENZYME, TRANSPORTER, CELL SURFACE | FERULIC ACID |
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