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Gene: MTM1 |
Gene summary for MTM1 |
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Gene information | Species | Human | Gene symbol | MTM1 | Gene ID | 4534 |
Gene name | myotubularin 1 | |
Gene Alias | CNM | |
Cytomap | Xq28 | |
Gene Type | protein-coding | GO ID | GO:0000045 | UniProtAcc | A0A024RC06 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4534 | MTM1 | HTA11_3410_2000001011 | Human | Colorectum | AD | 1.90e-10 | -5.11e-01 | 0.0155 |
4534 | MTM1 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.85e-12 | 6.65e-01 | -0.1954 |
4534 | MTM1 | HTA11_866_3004761011 | Human | Colorectum | AD | 7.96e-05 | -4.59e-01 | 0.096 |
4534 | MTM1 | HTA11_7696_3000711011 | Human | Colorectum | AD | 6.02e-08 | -4.50e-01 | 0.0674 |
4534 | MTM1 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 4.71e-12 | -4.87e-01 | 0.294 |
4534 | MTM1 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.48e-02 | -3.82e-01 | 0.3859 |
4534 | MTM1 | HTA11_99999973899_84307 | Human | Colorectum | MSS | 5.98e-04 | -6.12e-01 | 0.2585 |
4534 | MTM1 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 4.05e-09 | -4.52e-01 | 0.3005 |
4534 | MTM1 | F007 | Human | Colorectum | FAP | 5.83e-04 | -4.29e-01 | 0.1176 |
4534 | MTM1 | A001-C-207 | Human | Colorectum | FAP | 2.43e-07 | -4.33e-01 | 0.1278 |
4534 | MTM1 | A015-C-203 | Human | Colorectum | FAP | 3.26e-28 | -5.84e-01 | -0.1294 |
4534 | MTM1 | A015-C-204 | Human | Colorectum | FAP | 1.15e-13 | -5.93e-01 | -0.0228 |
4534 | MTM1 | A014-C-040 | Human | Colorectum | FAP | 1.86e-02 | -3.08e-01 | -0.1184 |
4534 | MTM1 | A002-C-201 | Human | Colorectum | FAP | 1.30e-16 | -4.96e-01 | 0.0324 |
4534 | MTM1 | A002-C-203 | Human | Colorectum | FAP | 2.89e-04 | -3.37e-01 | 0.2786 |
4534 | MTM1 | A001-C-119 | Human | Colorectum | FAP | 4.63e-11 | -5.95e-01 | -0.1557 |
4534 | MTM1 | A001-C-108 | Human | Colorectum | FAP | 1.96e-19 | -5.11e-01 | -0.0272 |
4534 | MTM1 | A002-C-205 | Human | Colorectum | FAP | 1.32e-23 | -5.93e-01 | -0.1236 |
4534 | MTM1 | A001-C-104 | Human | Colorectum | FAP | 1.13e-05 | -4.02e-01 | 0.0184 |
4534 | MTM1 | A015-C-005 | Human | Colorectum | FAP | 4.32e-12 | -5.30e-01 | -0.0336 |
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∗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 |
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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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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00106393 | Colorectum | FAP | negative regulation of organelle organization | 80/2622 | 348/18723 | 3.62e-06 | 1.27e-04 | 80 |
GO:00302583 | Colorectum | FAP | lipid modification | 52/2622 | 212/18723 | 2.84e-05 | 6.49e-04 | 52 |
GO:00162413 | Colorectum | FAP | regulation of macroautophagy | 38/2622 | 141/18723 | 3.78e-05 | 8.13e-04 | 38 |
GO:00602494 | Colorectum | FAP | anatomical structure homeostasis | 69/2622 | 314/18723 | 7.51e-05 | 1.37e-03 | 69 |
GO:00070343 | Colorectum | FAP | vacuolar transport | 40/2622 | 157/18723 | 9.41e-05 | 1.61e-03 | 40 |
GO:00070412 | Colorectum | FAP | lysosomal transport | 30/2622 | 114/18723 | 3.71e-04 | 4.63e-03 | 30 |
GO:00105072 | Colorectum | FAP | negative regulation of autophagy | 24/2622 | 85/18723 | 4.59e-04 | 5.39e-03 | 24 |
GO:0008654 | Colorectum | FAP | phospholipid biosynthetic process | 54/2622 | 253/18723 | 8.88e-04 | 9.08e-03 | 54 |
GO:00705843 | Colorectum | FAP | mitochondrion morphogenesis | 9/2622 | 21/18723 | 1.22e-03 | 1.14e-02 | 9 |
GO:00066502 | Colorectum | FAP | glycerophospholipid metabolic process | 62/2622 | 306/18723 | 1.54e-03 | 1.38e-02 | 62 |
GO:00066442 | Colorectum | FAP | phospholipid metabolic process | 74/2622 | 383/18723 | 2.24e-03 | 1.83e-02 | 74 |
GO:0046474 | Colorectum | FAP | glycerophospholipid biosynthetic process | 44/2622 | 211/18723 | 3.98e-03 | 2.76e-02 | 44 |
GO:00450172 | Colorectum | FAP | glycerolipid biosynthetic process | 50/2622 | 252/18723 | 6.32e-03 | 3.95e-02 | 50 |
GO:0035335 | Colorectum | FAP | peptidyl-tyrosine dephosphorylation | 23/2622 | 97/18723 | 6.95e-03 | 4.26e-02 | 23 |
GO:00098955 | Colorectum | CRC | negative regulation of catabolic process | 75/2078 | 320/18723 | 2.02e-10 | 9.31e-08 | 75 |
GO:00313305 | Colorectum | CRC | negative regulation of cellular catabolic process | 61/2078 | 262/18723 | 1.27e-08 | 2.54e-06 | 61 |
GO:00163114 | Colorectum | CRC | dephosphorylation | 79/2078 | 417/18723 | 1.27e-06 | 7.21e-05 | 79 |
GO:00064705 | Colorectum | CRC | protein dephosphorylation | 57/2078 | 281/18723 | 4.49e-06 | 1.87e-04 | 57 |
GO:00105064 | Colorectum | CRC | regulation of autophagy | 62/2078 | 317/18723 | 6.04e-06 | 2.35e-04 | 62 |
GO:00106394 | Colorectum | CRC | negative regulation of organelle organization | 63/2078 | 348/18723 | 6.09e-05 | 1.35e-03 | 63 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa04070 | Colorectum | CRC | Phosphatidylinositol signaling system | 25/1091 | 97/8465 | 4.27e-04 | 4.60e-03 | 3.12e-03 | 25 |
hsa00562 | Colorectum | CRC | Inositol phosphate metabolism | 18/1091 | 73/8465 | 4.38e-03 | 2.52e-02 | 1.71e-02 | 18 |
hsa040701 | Colorectum | CRC | Phosphatidylinositol signaling system | 25/1091 | 97/8465 | 4.27e-04 | 4.60e-03 | 3.12e-03 | 25 |
hsa005621 | Colorectum | CRC | Inositol phosphate metabolism | 18/1091 | 73/8465 | 4.38e-03 | 2.52e-02 | 1.71e-02 | 18 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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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 |
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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 |
MTM1 | SNV | Missense_Mutation | c.1344N>C | p.Met448Ile | p.M448I | Q13496 | protein_coding | tolerated(0.37) | benign(0.003) | TCGA-A1-A0SH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | tc | SD | |
MTM1 | SNV | Missense_Mutation | c.365N>A | p.Ala122Asp | p.A122D | Q13496 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A7-A26G-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD | |
MTM1 | SNV | Missense_Mutation | c.1097N>T | p.Ser366Leu | p.S366L | Q13496 | protein_coding | deleterious(0.02) | benign(0.04) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
MTM1 | SNV | Missense_Mutation | rs781995404 | c.539A>G | p.Asn180Ser | p.N180S | Q13496 | protein_coding | tolerated(0.06) | benign(0.021) | TCGA-A8-A0AD-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
MTM1 | SNV | Missense_Mutation | novel | c.859N>A | p.Ala287Thr | p.A287T | Q13496 | protein_coding | tolerated(0.26) | benign(0.154) | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MTM1 | SNV | Missense_Mutation | c.698N>T | p.Pro233Leu | p.P233L | Q13496 | protein_coding | deleterious(0.02) | possibly_damaging(0.73) | TCGA-B6-A0IH-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
MTM1 | SNV | Missense_Mutation | c.302N>T | p.Ser101Ile | p.S101I | Q13496 | protein_coding | deleterious(0) | possibly_damaging(0.772) | TCGA-D8-A1XF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin+cyclophosphamide | SD | |
MTM1 | SNV | Missense_Mutation | c.1164G>C | p.Leu388Phe | p.L388F | Q13496 | protein_coding | deleterious(0.04) | probably_damaging(0.998) | TCGA-EW-A1PA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | |
MTM1 | SNV | Missense_Mutation | novel | c.1384T>C | p.Phe462Leu | p.F462L | Q13496 | protein_coding | tolerated(0.32) | benign(0.015) | TCGA-OL-A66J-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTM1 | insertion | Nonsense_Mutation | c.418_419insCCATGGTCCAGCACAGCACTCCTTTATCTGAAATGAAAGTTTA | p.Tyr140SerfsTer15 | p.Y140Sfs*15 | Q13496 | protein_coding | TCGA-A8-A0A4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
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