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Gene: MCOLN2 |
Gene summary for MCOLN2 |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | MCOLN2 | Gene ID | 255231 |
| Gene name | mucolipin TRP cation channel 2 | |
| Gene Alias | TRP-ML2 | |
| Cytomap | 1p22.3 | |
| Gene Type | protein-coding | GO ID | GO:0001816 | UniProtAcc | Q8IZK6 |
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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 |
| 255231 | MCOLN2 | A001-C-108 | Human | Colorectum | FAP | 4.16e-12 | -4.55e-01 | -0.0272 |
| 255231 | MCOLN2 | A002-C-205 | Human | Colorectum | FAP | 9.73e-12 | -3.87e-01 | -0.1236 |
| 255231 | MCOLN2 | A001-C-104 | Human | Colorectum | FAP | 1.65e-02 | -3.33e-01 | 0.0184 |
| 255231 | MCOLN2 | A015-C-005 | Human | Colorectum | FAP | 2.46e-03 | -3.59e-01 | -0.0336 |
| 255231 | MCOLN2 | A015-C-006 | Human | Colorectum | FAP | 6.13e-06 | -3.57e-01 | -0.0994 |
| 255231 | MCOLN2 | A015-C-106 | Human | Colorectum | FAP | 1.36e-03 | -2.61e-01 | -0.0511 |
| 255231 | MCOLN2 | A002-C-114 | Human | Colorectum | FAP | 1.40e-08 | -2.82e-01 | -0.1561 |
| 255231 | MCOLN2 | A015-C-104 | Human | Colorectum | FAP | 8.56e-13 | -2.09e-01 | -0.1899 |
| 255231 | MCOLN2 | A001-C-014 | Human | Colorectum | FAP | 7.63e-08 | -3.20e-01 | 0.0135 |
| 255231 | MCOLN2 | A002-C-016 | Human | Colorectum | FAP | 1.26e-12 | -3.35e-01 | 0.0521 |
| 255231 | MCOLN2 | A015-C-002 | Human | Colorectum | FAP | 6.76e-06 | -3.66e-01 | -0.0763 |
| 255231 | MCOLN2 | A001-C-007 | Human | Colorectum | CRC | 3.89e-04 | -4.55e-01 | 0.1899 |
| 255231 | MCOLN2 | A002-C-116 | Human | Colorectum | FAP | 5.35e-17 | -3.61e-01 | -0.0452 |
| 255231 | MCOLN2 | A014-C-008 | Human | Colorectum | FAP | 3.99e-08 | -4.61e-01 | -0.191 |
| 255231 | MCOLN2 | A018-E-020 | Human | Colorectum | FAP | 1.49e-08 | -3.47e-01 | -0.2034 |
| 255231 | MCOLN2 | F034 | Human | Colorectum | FAP | 1.14e-13 | -4.46e-01 | -0.0665 |
| 255231 | MCOLN2 | F072B | Human | Colorectum | FAP | 1.83e-21 | -5.43e-01 | 0.257 |
| 255231 | MCOLN2 | CRC-1-8810 | Human | Colorectum | CRC | 8.54e-05 | -3.31e-01 | 0.6257 |
| 255231 | MCOLN2 | CRC-3-11773 | Human | Colorectum | CRC | 1.15e-20 | -5.48e-01 | 0.2564 |
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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:0072567 | Colorectum | AD | chemokine (C-X-C motif) ligand 2 production | 11/3918 | 20/18723 | 8.39e-04 | 8.21e-03 | 11 |
| GO:2000341 | Colorectum | AD | regulation of chemokine (C-X-C motif) ligand 2 production | 11/3918 | 20/18723 | 8.39e-04 | 8.21e-03 | 11 |
| GO:0051651 | Colorectum | AD | maintenance of location in cell | 61/3918 | 214/18723 | 5.02e-03 | 3.37e-02 | 61 |
| GO:00725672 | Colorectum | MSS | chemokine (C-X-C motif) ligand 2 production | 10/3467 | 20/18723 | 1.40e-03 | 1.32e-02 | 10 |
| GO:20003412 | Colorectum | MSS | regulation of chemokine (C-X-C motif) ligand 2 production | 10/3467 | 20/18723 | 1.40e-03 | 1.32e-02 | 10 |
| GO:00516512 | Colorectum | MSS | maintenance of location in cell | 57/3467 | 214/18723 | 2.07e-03 | 1.76e-02 | 57 |
| GO:2000343 | Colorectum | MSS | positive regulation of chemokine (C-X-C motif) ligand 2 production | 6/3467 | 11/18723 | 7.89e-03 | 4.84e-02 | 6 |
| GO:00516513 | Colorectum | FAP | maintenance of location in cell | 46/2622 | 214/18723 | 1.76e-03 | 1.53e-02 | 46 |
| GO:00725673 | Colorectum | FAP | chemokine (C-X-C motif) ligand 2 production | 8/2622 | 20/18723 | 3.83e-03 | 2.70e-02 | 8 |
| GO:20003413 | Colorectum | FAP | regulation of chemokine (C-X-C motif) ligand 2 production | 8/2622 | 20/18723 | 3.83e-03 | 2.70e-02 | 8 |
| GO:00516514 | Colorectum | CRC | maintenance of location in cell | 36/2078 | 214/18723 | 7.25e-03 | 4.98e-02 | 36 |
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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 |
| MCOLN2 | SNV | Missense_Mutation | c.1429N>C | p.Ile477Leu | p.I477L | Q8IZK6 | protein_coding | tolerated(0.54) | benign(0.001) | TCGA-A2-A1FV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD | |
| MCOLN2 | SNV | Missense_Mutation | c.1481N>A | p.Phe494Tyr | p.F494Y | Q8IZK6 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MCOLN2 | SNV | Missense_Mutation | c.1230G>A | p.Met410Ile | p.M410I | Q8IZK6 | protein_coding | deleterious(0.01) | possibly_damaging(0.908) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MCOLN2 | SNV | Missense_Mutation | c.1330N>A | p.Asp444Asn | p.D444N | Q8IZK6 | protein_coding | tolerated(0.4) | benign(0.007) | TCGA-C8-A12O-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
| MCOLN2 | SNV | Missense_Mutation | novel | c.1522G>T | p.Asp508Tyr | p.D508Y | Q8IZK6 | protein_coding | deleterious(0) | probably_damaging(0.983) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| MCOLN2 | SNV | Missense_Mutation | c.343G>C | p.Asp115His | p.D115H | Q8IZK6 | protein_coding | deleterious(0.04) | possibly_damaging(0.754) | TCGA-EK-A2RK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
| MCOLN2 | SNV | Missense_Mutation | rs201171839 | c.178N>T | p.Arg60Cys | p.R60C | Q8IZK6 | protein_coding | deleterious(0.03) | benign(0.425) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MCOLN2 | SNV | Missense_Mutation | novel | c.382N>C | p.Tyr128His | p.Y128H | Q8IZK6 | protein_coding | deleterious(0.04) | probably_damaging(0.933) | TCGA-AA-3950-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| MCOLN2 | SNV | Missense_Mutation | rs764382111 | c.1657N>T | p.Arg553Trp | p.R553W | Q8IZK6 | protein_coding | tolerated(0.16) | benign(0.232) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
| MCOLN2 | SNV | Missense_Mutation | c.406N>G | p.Asn136Asp | p.N136D | Q8IZK6 | protein_coding | tolerated(1) | benign(0) | TCGA-AD-6889-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
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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 |
| 255231 | MCOLN2 | ION CHANNEL, DRUGGABLE GENOME | activator | 178100233 | ||
| 255231 | MCOLN2 | ION CHANNEL, DRUGGABLE GENOME | activator | 178103002 | ||
| 255231 | MCOLN2 | ION CHANNEL, DRUGGABLE GENOME | activator | 381744982 |
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