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Gene: MAML1 |
Gene summary for MAML1 |
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Gene information | Species | Human | Gene symbol | MAML1 | Gene ID | 9794 |
Gene name | mastermind like transcriptional coactivator 1 | |
Gene Alias | Mam-1 | |
Cytomap | 5q35.3 | |
Gene Type | protein-coding | GO ID | GO:0003161 | UniProtAcc | Q92585 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
9794 | MAML1 | P28T-E | Human | Esophagus | ESCC | 9.10e-27 | 3.43e-01 | 0.1149 |
9794 | MAML1 | P30T-E | Human | Esophagus | ESCC | 1.78e-07 | 3.33e-01 | 0.137 |
9794 | MAML1 | P31T-E | Human | Esophagus | ESCC | 4.74e-09 | 8.38e-02 | 0.1251 |
9794 | MAML1 | P32T-E | Human | Esophagus | ESCC | 1.31e-06 | 2.84e-02 | 0.1666 |
9794 | MAML1 | P36T-E | Human | Esophagus | ESCC | 8.42e-11 | 2.40e-01 | 0.1187 |
9794 | MAML1 | P37T-E | Human | Esophagus | ESCC | 6.56e-09 | 4.77e-02 | 0.1371 |
9794 | MAML1 | P38T-E | Human | Esophagus | ESCC | 3.92e-03 | 8.96e-02 | 0.127 |
9794 | MAML1 | P39T-E | Human | Esophagus | ESCC | 1.80e-08 | 7.04e-02 | 0.0894 |
9794 | MAML1 | P40T-E | Human | Esophagus | ESCC | 3.25e-03 | 2.00e-01 | 0.109 |
9794 | MAML1 | P42T-E | Human | Esophagus | ESCC | 3.84e-03 | 5.55e-02 | 0.1175 |
9794 | MAML1 | P44T-E | Human | Esophagus | ESCC | 6.64e-03 | 3.19e-02 | 0.1096 |
9794 | MAML1 | P47T-E | Human | Esophagus | ESCC | 1.11e-06 | 6.56e-02 | 0.1067 |
9794 | MAML1 | P48T-E | Human | Esophagus | ESCC | 2.28e-14 | 2.40e-01 | 0.0959 |
9794 | MAML1 | P49T-E | Human | Esophagus | ESCC | 4.71e-02 | 5.78e-01 | 0.1768 |
9794 | MAML1 | P52T-E | Human | Esophagus | ESCC | 7.58e-14 | 2.08e-01 | 0.1555 |
9794 | MAML1 | P54T-E | Human | Esophagus | ESCC | 1.64e-10 | 2.65e-01 | 0.0975 |
9794 | MAML1 | P56T-E | Human | Esophagus | ESCC | 3.55e-03 | 6.34e-01 | 0.1613 |
9794 | MAML1 | P57T-E | Human | Esophagus | ESCC | 1.34e-10 | 9.31e-02 | 0.0926 |
9794 | MAML1 | P61T-E | Human | Esophagus | ESCC | 1.06e-07 | 1.19e-01 | 0.099 |
9794 | MAML1 | P62T-E | Human | Esophagus | ESCC | 1.71e-08 | 2.37e-01 | 0.1302 |
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Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![]() | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias | ||
LGIN: Low-grade intraepithelial neoplasias |
∗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:00072197 | Esophagus | ESCC | Notch signaling pathway | 106/8552 | 172/18723 | 1.74e-05 | 1.55e-04 | 106 |
GO:00454454 | Esophagus | ESCC | myoblast differentiation | 52/8552 | 84/18723 | 1.98e-03 | 8.90e-03 | 52 |
GO:006053716 | Esophagus | ESCC | muscle tissue development | 211/8552 | 403/18723 | 3.84e-03 | 1.56e-02 | 211 |
GO:00350512 | Esophagus | ESCC | cardiocyte differentiation | 86/8552 | 156/18723 | 1.09e-02 | 3.68e-02 | 86 |
GO:001470615 | Esophagus | ESCC | striated muscle tissue development | 197/8552 | 384/18723 | 1.46e-02 | 4.74e-02 | 197 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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 |
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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 |
MAML1 | SNV | Missense_Mutation | c.1754C>T | p.Pro585Leu | p.P585L | Q92585 | protein_coding | deleterious(0) | probably_damaging(0.925) | TCGA-A8-A06R-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
MAML1 | SNV | Missense_Mutation | c.2344C>A | p.Pro782Thr | p.P782T | Q92585 | protein_coding | tolerated(0.31) | benign(0.003) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MAML1 | SNV | Missense_Mutation | c.2150A>T | p.Asn717Ile | p.N717I | Q92585 | protein_coding | deleterious(0.01) | benign(0.08) | TCGA-E2-A1II-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
MAML1 | deletion | Frame_Shift_Del | novel | c.2466delN | p.Lys822AsnfsTer36 | p.K822Nfs*36 | Q92585 | protein_coding | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD | ||
MAML1 | SNV | Missense_Mutation | c.793G>C | p.Glu265Gln | p.E265Q | Q92585 | protein_coding | tolerated(0.07) | probably_damaging(0.987) | TCGA-C5-A8XK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD | |
MAML1 | SNV | Missense_Mutation | c.1498N>G | p.Gln500Glu | p.Q500E | Q92585 | protein_coding | deleterious(0.03) | benign(0.142) | TCGA-EK-A2RK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD | |
MAML1 | SNV | Missense_Mutation | rs767452281 | c.1222N>T | p.Arg408Cys | p.R408C | Q92585 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-EK-A2RM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MAML1 | SNV | Missense_Mutation | c.2974N>G | p.Leu992Val | p.L992V | Q92585 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-FU-A770-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD | |
MAML1 | SNV | Missense_Mutation | novel | c.1028N>T | p.Gly343Val | p.G343V | Q92585 | protein_coding | tolerated(0.33) | benign(0.006) | TCGA-VS-A94X-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
MAML1 | SNV | Missense_Mutation | rs763800343 | c.1402N>T | p.Pro468Ser | p.P468S | Q92585 | protein_coding | tolerated(0.13) | benign(0.012) | TCGA-A6-6780-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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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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