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Gene: MAML2 |
Gene summary for MAML2 |
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Gene information | Species | Human | Gene symbol | MAML2 | Gene ID | 84441 |
Gene name | mastermind like transcriptional coactivator 2 | |
Gene Alias | MAM-3 | |
Cytomap | 11q21 | |
Gene Type | protein-coding | GO ID | GO:0006139 | UniProtAcc | Q8IZL2 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
84441 | MAML2 | CCI_1 | Human | Cervix | CC | 2.67e-06 | 7.96e-01 | 0.528 |
84441 | MAML2 | CCI_3 | Human | Cervix | CC | 7.87e-05 | 7.51e-01 | 0.516 |
84441 | MAML2 | HTA11_2951_2000001011 | Human | Colorectum | AD | 7.71e-03 | -6.43e-01 | 0.0216 |
84441 | MAML2 | HTA11_1938_2000001011 | Human | Colorectum | AD | 4.60e-07 | 5.88e-01 | -0.0811 |
84441 | MAML2 | HTA11_78_2000001011 | Human | Colorectum | AD | 1.70e-09 | 5.53e-01 | -0.1088 |
84441 | MAML2 | HTA11_347_2000001011 | Human | Colorectum | AD | 1.87e-35 | 1.28e+00 | -0.1954 |
84441 | MAML2 | HTA11_411_2000001011 | Human | Colorectum | SER | 2.83e-08 | 7.29e-01 | -0.2602 |
84441 | MAML2 | HTA11_83_2000001011 | Human | Colorectum | SER | 2.67e-10 | 6.92e-01 | -0.1526 |
84441 | MAML2 | HTA11_1391_2000001011 | Human | Colorectum | AD | 2.42e-07 | 7.17e-01 | -0.059 |
84441 | MAML2 | HTA11_9408_2000001011 | Human | Colorectum | AD | 1.32e-02 | -4.74e-01 | 0.0451 |
84441 | MAML2 | HTA11_7663_2000001011 | Human | Colorectum | SER | 2.34e-12 | 9.06e-01 | 0.0131 |
84441 | MAML2 | HTA11_10623_2000001011 | Human | Colorectum | AD | 9.01e-04 | 5.91e-01 | -0.0177 |
84441 | MAML2 | HTA11_10711_2000001011 | Human | Colorectum | AD | 3.10e-02 | 3.37e-01 | 0.0338 |
84441 | MAML2 | HTA11_6818_2000001021 | Human | Colorectum | AD | 7.81e-12 | 8.48e-01 | 0.0588 |
84441 | MAML2 | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.12e-05 | 5.68e-01 | 0.294 |
84441 | MAML2 | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 1.21e-02 | 6.50e-01 | 0.3487 |
84441 | MAML2 | HTA11_99999965104_69814 | Human | Colorectum | MSS | 3.09e-04 | 5.95e-01 | 0.281 |
84441 | MAML2 | HTA11_99999971662_82457 | Human | Colorectum | MSS | 2.11e-04 | 6.31e-01 | 0.3859 |
84441 | MAML2 | HTA11_99999974143_84620 | Human | Colorectum | MSS | 8.25e-28 | -7.81e-01 | 0.3005 |
84441 | MAML2 | A015-C-203 | Human | Colorectum | FAP | 2.67e-35 | -7.02e-01 | -0.1294 |
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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:00072194 | Cervix | CC | Notch signaling pathway | 39/2311 | 172/18723 | 1.08e-04 | 1.38e-03 | 39 |
GO:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
GO:00072191 | Colorectum | FAP | Notch signaling pathway | 38/2622 | 172/18723 | 2.56e-03 | 2.01e-02 | 38 |
GO:00072192 | Colorectum | CRC | Notch signaling pathway | 36/2078 | 172/18723 | 1.26e-04 | 2.42e-03 | 36 |
GO:00072197 | Esophagus | ESCC | Notch signaling pathway | 106/8552 | 172/18723 | 1.74e-05 | 1.55e-04 | 106 |
GO:00072193 | Lung | AIS | Notch signaling pathway | 29/1849 | 172/18723 | 2.93e-03 | 2.92e-02 | 29 |
GO:00072196 | Oral cavity | OSCC | Notch signaling pathway | 92/7305 | 172/18723 | 7.84e-05 | 6.08e-04 | 92 |
GO:000721921 | Oral cavity | NEOLP | Notch signaling pathway | 32/2005 | 172/18723 | 1.31e-03 | 9.48e-03 | 32 |
GO:00072195 | Prostate | BPH | Notch signaling pathway | 41/3107 | 172/18723 | 8.95e-03 | 3.83e-02 | 41 |
GO:000721912 | Prostate | Tumor | Notch signaling pathway | 44/3246 | 172/18723 | 4.02e-03 | 2.04e-02 | 44 |
GO:00072198 | Skin | AK | Notch signaling pathway | 34/1910 | 172/18723 | 1.20e-04 | 1.50e-03 | 34 |
GO:000721914 | Skin | SCCIS | Notch signaling pathway | 17/919 | 172/18723 | 4.79e-03 | 3.95e-02 | 17 |
GO:000721922 | Skin | cSCC | Notch signaling pathway | 60/4864 | 172/18723 | 5.82e-03 | 2.87e-02 | 60 |
GO:00072199 | Thyroid | PTC | Notch signaling pathway | 70/5968 | 172/18723 | 8.82e-03 | 3.67e-02 | 70 |
GO:000721915 | Thyroid | ATC | Notch signaling pathway | 79/6293 | 172/18723 | 5.08e-04 | 2.96e-03 | 79 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa04658 | Cervix | CC | Th1 and Th2 cell differentiation | 24/1267 | 92/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 24 |
hsa04330 | Cervix | CC | Notch signaling pathway | 17/1267 | 62/8465 | 7.99e-03 | 2.56e-02 | 1.51e-02 | 17 |
hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa046581 | Cervix | CC | Th1 and Th2 cell differentiation | 24/1267 | 92/8465 | 3.71e-03 | 1.34e-02 | 7.91e-03 | 24 |
hsa043301 | Cervix | CC | Notch signaling pathway | 17/1267 | 62/8465 | 7.99e-03 | 2.56e-02 | 1.51e-02 | 17 |
hsa0516510 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa043306 | Esophagus | ESCC | Notch signaling pathway | 42/4205 | 62/8465 | 2.97e-03 | 7.97e-03 | 4.08e-03 | 42 |
hsa046585 | Esophagus | ESCC | Th1 and Th2 cell differentiation | 58/4205 | 92/8465 | 6.49e-03 | 1.60e-02 | 8.19e-03 | 58 |
hsa0516515 | Esophagus | ESCC | Human papillomavirus infection | 215/4205 | 331/8465 | 7.86e-09 | 7.12e-08 | 3.65e-08 | 215 |
hsa0433013 | Esophagus | ESCC | Notch signaling pathway | 42/4205 | 62/8465 | 2.97e-03 | 7.97e-03 | 4.08e-03 | 42 |
hsa0465812 | Esophagus | ESCC | Th1 and Th2 cell differentiation | 58/4205 | 92/8465 | 6.49e-03 | 1.60e-02 | 8.19e-03 | 58 |
hsa051656 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
hsa0516511 | Lung | IAC | Human papillomavirus infection | 71/1053 | 331/8465 | 1.88e-06 | 7.63e-05 | 5.06e-05 | 71 |
hsa0516521 | Lung | AIS | Human papillomavirus infection | 64/961 | 331/8465 | 1.03e-05 | 3.04e-04 | 1.95e-04 | 64 |
hsa0516531 | Lung | AIS | Human papillomavirus infection | 64/961 | 331/8465 | 1.03e-05 | 3.04e-04 | 1.95e-04 | 64 |
hsa051654 | Lung | MIAC | Human papillomavirus infection | 32/507 | 331/8465 | 4.78e-03 | 3.49e-02 | 2.52e-02 | 32 |
hsa051655 | Lung | MIAC | Human papillomavirus infection | 32/507 | 331/8465 | 4.78e-03 | 3.49e-02 | 2.52e-02 | 32 |
hsa051659 | Oral cavity | OSCC | Human papillomavirus infection | 200/3704 | 331/8465 | 3.83e-10 | 4.93e-09 | 2.51e-09 | 200 |
hsa043305 | Oral cavity | OSCC | Notch signaling pathway | 44/3704 | 62/8465 | 1.26e-05 | 5.55e-05 | 2.83e-05 | 44 |
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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 |
MAML2 | SNV | Missense_Mutation | c.533G>T | p.Arg178Ile | p.R178I | Q8IZL2 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD | |
MAML2 | SNV | Missense_Mutation | novel | c.3422N>G | p.Asp1141Gly | p.D1141G | Q8IZL2 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-A01I-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MAML2 | SNV | Missense_Mutation | c.437N>A | p.Gly146Asp | p.G146D | Q8IZL2 | protein_coding | tolerated(0.42) | benign(0.086) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD | |
MAML2 | SNV | Missense_Mutation | c.2898N>T | p.Trp966Cys | p.W966C | Q8IZL2 | protein_coding | deleterious(0) | probably_damaging(0.945) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MAML2 | SNV | Missense_Mutation | novel | c.2118N>C | p.Gln706His | p.Q706H | Q8IZL2 | protein_coding | tolerated(0.15) | possibly_damaging(0.459) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
MAML2 | SNV | Missense_Mutation | c.1219N>A | p.Val407Ile | p.V407I | Q8IZL2 | protein_coding | tolerated(0.15) | benign(0.003) | TCGA-CK-6746-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MAML2 | SNV | Missense_Mutation | c.55G>T | p.Gly19Trp | p.G19W | Q8IZL2 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-G4-6314-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Ancillary | leucovorin | SD | |
MAML2 | SNV | Missense_Mutation | c.2783N>T | p.Gly928Val | p.G928V | Q8IZL2 | protein_coding | deleterious(0) | benign(0.023) | TCGA-CI-6621-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Unknown | Unknown | SD | |
MAML2 | SNV | Missense_Mutation | rs375950360 | c.619C>T | p.Arg207Cys | p.R207C | Q8IZL2 | protein_coding | deleterious(0.04) | benign(0.009) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
MAML2 | deletion | Frame_Shift_Del | novel | c.1824delN | p.Gln608HisfsTer73 | p.Q608Hfs*73 | Q8IZL2 | protein_coding | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
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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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