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Gene: CA2 |
Gene summary for CA2 |
Gene summary. |
Gene information | Species | Human | Gene symbol | CA2 | Gene ID | 760 |
Gene name | carbonic anhydrase 2 | |
Gene Alias | CA-II | |
Cytomap | 8q21.2 | |
Gene Type | protein-coding | GO ID | GO:0001655 | UniProtAcc | P00918 |
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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 |
760 | CA2 | GSM4909282 | Human | Breast | IDC | 2.46e-02 | -2.95e-01 | -0.0288 |
760 | CA2 | GSM4909286 | Human | Breast | IDC | 7.93e-11 | -3.78e-01 | 0.1081 |
760 | CA2 | GSM4909287 | Human | Breast | IDC | 2.09e-07 | -3.42e-01 | 0.2057 |
760 | CA2 | GSM4909291 | Human | Breast | IDC | 1.17e-04 | -3.56e-01 | 0.1753 |
760 | CA2 | GSM4909293 | Human | Breast | IDC | 1.49e-04 | -3.48e-01 | 0.1581 |
760 | CA2 | GSM4909294 | Human | Breast | IDC | 1.31e-05 | -3.34e-01 | 0.2022 |
760 | CA2 | GSM4909297 | Human | Breast | IDC | 2.47e-13 | 5.58e-01 | 0.1517 |
760 | CA2 | GSM4909298 | Human | Breast | IDC | 3.45e-04 | -3.21e-01 | 0.1551 |
760 | CA2 | GSM4909301 | Human | Breast | IDC | 6.32e-11 | -3.73e-01 | 0.1577 |
760 | CA2 | GSM4909302 | Human | Breast | IDC | 9.71e-13 | -3.67e-01 | 0.1545 |
760 | CA2 | GSM4909306 | Human | Breast | IDC | 1.59e-05 | -3.21e-01 | 0.1564 |
760 | CA2 | GSM4909307 | Human | Breast | IDC | 8.07e-09 | -3.56e-01 | 0.1569 |
760 | CA2 | GSM4909308 | Human | Breast | IDC | 4.53e-13 | -3.79e-01 | 0.158 |
760 | CA2 | GSM4909309 | Human | Breast | IDC | 1.15e-03 | -3.01e-01 | 0.0483 |
760 | CA2 | GSM4909311 | Human | Breast | IDC | 2.87e-07 | -3.20e-01 | 0.1534 |
760 | CA2 | GSM4909312 | Human | Breast | IDC | 5.27e-09 | -3.66e-01 | 0.1552 |
760 | CA2 | GSM4909313 | Human | Breast | IDC | 5.15e-04 | -3.12e-01 | 0.0391 |
760 | CA2 | GSM4909315 | Human | Breast | IDC | 6.74e-13 | -3.79e-01 | 0.21 |
760 | CA2 | GSM4909316 | Human | Breast | IDC | 2.04e-03 | -3.79e-01 | 0.21 |
760 | CA2 | GSM4909319 | Human | Breast | IDC | 5.52e-12 | -3.76e-01 | 0.1563 |
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Transcriptomic changes along malignancy continuum. |
∗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). |
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Enriched GO biological processes. |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004593119 | Thyroid | PTC | positive regulation of mitotic cell cycle | 65/5968 | 121/18723 | 5.08e-07 | 8.26e-06 | 65 |
GO:0009314111 | Thyroid | PTC | response to radiation | 195/5968 | 456/18723 | 5.10e-07 | 8.27e-06 | 195 |
GO:00094117 | Thyroid | PTC | response to UV | 76/5968 | 149/18723 | 8.97e-07 | 1.36e-05 | 76 |
GO:00701989 | Thyroid | PTC | protein localization to chromosome, telomeric region | 22/5968 | 29/18723 | 1.44e-06 | 2.04e-05 | 22 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:000756917 | Thyroid | PTC | cell aging | 68/5968 | 132/18723 | 2.09e-06 | 2.84e-05 | 68 |
GO:0008630112 | Thyroid | PTC | intrinsic apoptotic signaling pathway in response to DNA damage | 54/5968 | 99/18723 | 2.46e-06 | 3.22e-05 | 54 |
GO:0006898110 | Thyroid | PTC | receptor-mediated endocytosis | 112/5968 | 244/18723 | 2.87e-06 | 3.74e-05 | 112 |
GO:001931810 | Thyroid | PTC | hexose metabolic process | 108/5968 | 237/18723 | 6.42e-06 | 7.65e-05 | 108 |
GO:0052547113 | Thyroid | PTC | regulation of peptidase activity | 191/5968 | 461/18723 | 7.82e-06 | 9.02e-05 | 191 |
GO:000599614 | Thyroid | PTC | monosaccharide metabolic process | 115/5968 | 257/18723 | 9.36e-06 | 1.05e-04 | 115 |
GO:000091019 | Thyroid | PTC | cytokinesis | 82/5968 | 173/18723 | 1.37e-05 | 1.47e-04 | 82 |
GO:004277010 | Thyroid | PTC | signal transduction in response to DNA damage | 81/5968 | 172/18723 | 2.07e-05 | 2.08e-04 | 81 |
GO:00062606 | Thyroid | PTC | DNA replication | 114/5968 | 260/18723 | 3.09e-05 | 2.95e-04 | 114 |
GO:0044409113 | Thyroid | PTC | entry into host | 72/5968 | 151/18723 | 3.48e-05 | 3.29e-04 | 72 |
GO:004825918 | Thyroid | PTC | regulation of receptor-mediated endocytosis | 55/5968 | 110/18723 | 5.64e-05 | 4.99e-04 | 55 |
GO:004311219 | Thyroid | PTC | receptor metabolic process | 77/5968 | 166/18723 | 6.21e-05 | 5.47e-04 | 77 |
GO:00323877 | Thyroid | PTC | negative regulation of intracellular transport | 33/5968 | 58/18723 | 7.13e-05 | 6.19e-04 | 33 |
GO:00322009 | Thyroid | PTC | telomere organization | 74/5968 | 159/18723 | 7.46e-05 | 6.43e-04 | 74 |
GO:00103329 | Thyroid | PTC | response to gamma radiation | 32/5968 | 56/18723 | 8.16e-05 | 6.94e-04 | 32 |
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Enriched KEGG pathways. |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0497114 | Breast | Precancer | Gastric acid secretion | 13/684 | 76/8465 | 7.35e-03 | 4.07e-02 | 3.12e-02 | 13 |
hsa0497115 | Breast | Precancer | Gastric acid secretion | 13/684 | 76/8465 | 7.35e-03 | 4.07e-02 | 3.12e-02 | 13 |
hsa0497122 | Breast | IDC | Gastric acid secretion | 16/867 | 76/8465 | 3.80e-03 | 2.33e-02 | 1.74e-02 | 16 |
hsa0497132 | Breast | IDC | Gastric acid secretion | 16/867 | 76/8465 | 3.80e-03 | 2.33e-02 | 1.74e-02 | 16 |
hsa0497142 | Breast | DCIS | Gastric acid secretion | 16/846 | 76/8465 | 2.97e-03 | 1.81e-02 | 1.33e-02 | 16 |
hsa0497152 | Breast | DCIS | Gastric acid secretion | 16/846 | 76/8465 | 2.97e-03 | 1.81e-02 | 1.33e-02 | 16 |
hsa04971 | Colorectum | AD | Gastric acid secretion | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa04972 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa04964 | Colorectum | AD | Proximal tubule bicarbonate reclamation | 11/2092 | 23/8465 | 1.35e-02 | 4.86e-02 | 3.10e-02 | 11 |
hsa049711 | Colorectum | AD | Gastric acid secretion | 29/2092 | 76/8465 | 6.25e-03 | 2.68e-02 | 1.71e-02 | 29 |
hsa049721 | Colorectum | AD | Pancreatic secretion | 36/2092 | 102/8465 | 1.06e-02 | 3.98e-02 | 2.54e-02 | 36 |
hsa049641 | Colorectum | AD | Proximal tubule bicarbonate reclamation | 11/2092 | 23/8465 | 1.35e-02 | 4.86e-02 | 3.10e-02 | 11 |
hsa049712 | Colorectum | SER | Gastric acid secretion | 27/1580 | 76/8465 | 3.65e-04 | 3.27e-03 | 2.38e-03 | 27 |
hsa049642 | Colorectum | SER | Proximal tubule bicarbonate reclamation | 10/1580 | 23/8465 | 5.33e-03 | 3.28e-02 | 2.38e-02 | 10 |
hsa049722 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa049713 | Colorectum | SER | Gastric acid secretion | 27/1580 | 76/8465 | 3.65e-04 | 3.27e-03 | 2.38e-03 | 27 |
hsa049643 | Colorectum | SER | Proximal tubule bicarbonate reclamation | 10/1580 | 23/8465 | 5.33e-03 | 3.28e-02 | 2.38e-02 | 10 |
hsa049723 | Colorectum | SER | Pancreatic secretion | 30/1580 | 102/8465 | 5.41e-03 | 3.28e-02 | 2.38e-02 | 30 |
hsa049714 | Colorectum | MSS | Gastric acid secretion | 27/1875 | 76/8465 | 5.20e-03 | 2.18e-02 | 1.34e-02 | 27 |
hsa049724 | Colorectum | MSS | Pancreatic secretion | 33/1875 | 102/8465 | 1.09e-02 | 3.75e-02 | 2.30e-02 | 33 |
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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 |
CA2 | SNV | Missense_Mutation | novel | c.744N>T | p.Gln248His | p.Q248H | P00918 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-AQ-A54O-01 | Breast | breast invasive carcinoma | Male | <65 | I/II | Chemotherapy | adriamycin | CR |
CA2 | SNV | Missense_Mutation | c.544N>C | p.Gly182Arg | p.G182R | P00918 | protein_coding | tolerated(0.06) | benign(0.044) | TCGA-E2-A1AZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
CA2 | SNV | Missense_Mutation | c.214G>A | p.Asp72Asn | p.D72N | P00918 | protein_coding | deleterious(0) | benign(0.023) | TCGA-FU-A23K-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
CA2 | SNV | Missense_Mutation | novel | c.398N>T | p.Ala133Val | p.A133V | P00918 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CA2 | SNV | Missense_Mutation | c.740N>T | p.Ala247Val | p.A247V | P00918 | protein_coding | tolerated(0.37) | benign(0) | TCGA-F4-6703-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
CA2 | SNV | Missense_Mutation | c.288C>A | p.His96Gln | p.H96Q | P00918 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-F4-6807-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | xeloda | CR | |
CA2 | SNV | Missense_Mutation | rs777088645 | c.676N>T | p.Arg226Cys | p.R226C | P00918 | protein_coding | deleterious(0) | probably_damaging(0.919) | TCGA-G4-6302-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CA2 | SNV | Missense_Mutation | rs555992309 | c.658N>A | p.Glu220Lys | p.E220K | P00918 | protein_coding | tolerated(0.23) | benign(0.018) | TCGA-EI-6882-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
CA2 | deletion | Frame_Shift_Del | c.434delN | p.Leu147Ter | p.L147* | P00918 | protein_coding | TCGA-AA-3672-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |||
CA2 | insertion | Frame_Shift_Ins | rs763603775 | c.440dupT | p.Leu147PhefsTer7 | p.L147Ffs*7 | P00918 | protein_coding | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | 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 |
760 | CA2 | DRUGGABLE GENOME, ENZYME | PARABEN | PARABEN | ||
760 | CA2 | DRUGGABLE GENOME, ENZYME | ACETAZOLAMIDE | ACETAZOLAMIDE | ||
760 | CA2 | DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL17 | DICHLORPHENAMIDE | |
760 | CA2 | DRUGGABLE GENOME, ENZYME | inhibitor | CHEMBL220491 | BRINZOLAMIDE | |
760 | CA2 | DRUGGABLE GENOME, ENZYME | BRINZOLAMIDE | BRINZOLAMIDE | ||
760 | CA2 | DRUGGABLE GENOME, ENZYME | Ethoxzolamide | ETHOXZOLAMIDE | ||
760 | CA2 | DRUGGABLE GENOME, ENZYME | Benzthiazide | BENZTHIAZIDE | ||
760 | CA2 | DRUGGABLE GENOME, ENZYME | COBALT | 107027 | ||
760 | CA2 | DRUGGABLE GENOME, ENZYME | TRICHLORMETHIAZIDE | TRICHLORMETHIAZIDE | ||
760 | CA2 | DRUGGABLE GENOME, ENZYME | Chlorothiazide | CHLOROTHIAZIDE |
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