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Gene: MUT |
Gene summary for MUT |
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Gene information | Species | Human | Gene symbol | MUT | Gene ID | 4594 |
Gene name | methylmalonyl-CoA mutase | |
Gene Alias | MCM | |
Cytomap | 6p12.3 | |
Gene Type | protein-coding | GO ID | GO:0000096 | UniProtAcc | A0A024RD82 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4594 | MUT | P1T-E | Human | Esophagus | ESCC | 1.40e-03 | 2.24e-01 | 0.0875 |
4594 | MUT | P2T-E | Human | Esophagus | ESCC | 1.07e-21 | 1.80e-01 | 0.1177 |
4594 | MUT | P4T-E | Human | Esophagus | ESCC | 1.77e-19 | 3.88e-01 | 0.1323 |
4594 | MUT | P5T-E | Human | Esophagus | ESCC | 5.09e-06 | 5.51e-02 | 0.1327 |
4594 | MUT | P8T-E | Human | Esophagus | ESCC | 1.01e-15 | 2.59e-01 | 0.0889 |
4594 | MUT | P9T-E | Human | Esophagus | ESCC | 1.31e-06 | 8.41e-02 | 0.1131 |
4594 | MUT | P10T-E | Human | Esophagus | ESCC | 1.92e-15 | 3.02e-01 | 0.116 |
4594 | MUT | P11T-E | Human | Esophagus | ESCC | 2.80e-11 | 3.56e-01 | 0.1426 |
4594 | MUT | P12T-E | Human | Esophagus | ESCC | 1.76e-23 | 5.53e-01 | 0.1122 |
4594 | MUT | P15T-E | Human | Esophagus | ESCC | 1.19e-06 | 1.54e-01 | 0.1149 |
4594 | MUT | P16T-E | Human | Esophagus | ESCC | 1.30e-39 | 7.97e-01 | 0.1153 |
4594 | MUT | P17T-E | Human | Esophagus | ESCC | 4.96e-06 | 3.15e-01 | 0.1278 |
4594 | MUT | P19T-E | Human | Esophagus | ESCC | 4.39e-08 | 4.19e-01 | 0.1662 |
4594 | MUT | P20T-E | Human | Esophagus | ESCC | 1.22e-11 | 1.73e-01 | 0.1124 |
4594 | MUT | P21T-E | Human | Esophagus | ESCC | 1.82e-14 | 2.72e-01 | 0.1617 |
4594 | MUT | P22T-E | Human | Esophagus | ESCC | 6.59e-20 | 2.49e-01 | 0.1236 |
4594 | MUT | P23T-E | Human | Esophagus | ESCC | 1.63e-19 | 4.20e-01 | 0.108 |
4594 | MUT | P24T-E | Human | Esophagus | ESCC | 2.09e-12 | 2.31e-01 | 0.1287 |
4594 | MUT | P26T-E | Human | Esophagus | ESCC | 7.38e-14 | 3.93e-01 | 0.1276 |
4594 | MUT | P27T-E | Human | Esophagus | ESCC | 5.96e-16 | 3.16e-01 | 0.1055 |
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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:0006285 | Esophagus | HGIN | base-excision repair, AP site formation | 6/2587 | 12/18723 | 3.03e-03 | 2.88e-02 | 6 |
GO:00062843 | Esophagus | ESCC | base-excision repair | 33/8552 | 43/18723 | 3.25e-05 | 2.69e-04 | 33 |
GO:0006304 | Esophagus | ESCC | DNA modification | 68/8552 | 120/18723 | 9.95e-03 | 3.42e-02 | 68 |
GO:00062842 | Oral cavity | OSCC | base-excision repair | 28/7305 | 43/18723 | 4.71e-04 | 2.79e-03 | 28 |
GO:00062841 | Oral cavity | LP | base-excision repair | 19/4623 | 43/18723 | 4.04e-03 | 2.61e-02 | 19 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
MUT | SNV | Missense_Mutation | rs373381232 | c.1270N>T | p.Pro424Ser | p.P424S | P22033 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-A2-A0SW-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | arimidex | PD |
MUT | SNV | Missense_Mutation | novel | c.523G>T | p.Asp175Tyr | p.D175Y | P22033 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.982) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MUT | SNV | Missense_Mutation | rs367850243 | c.2023N>A | p.Ala675Thr | p.A675T | P22033 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(1) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
MUT | SNV | Missense_Mutation | c.1389N>G | p.Ile463Met | p.I463M | P22033 | protein_coding | tolerated_low_confidence(0.76) | benign(0.113) | TCGA-E2-A153-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD | |
MUT | SNV | Missense_Mutation | c.1058C>A | p.Thr353Lys | p.T353K | P22033 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-E2-A1IE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD | |
MUT | SNV | Missense_Mutation | c.2185N>T | p.Pro729Ser | p.P729S | P22033 | protein_coding | tolerated_low_confidence(0.26) | benign(0.295) | TCGA-EW-A1J5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD | |
MUT | SNV | Missense_Mutation | c.301A>G | p.Thr101Ala | p.T101A | P22033 | protein_coding | tolerated_low_confidence(0.83) | benign(0.01) | TCGA-EW-A1PB-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD | |
MUT | SNV | Missense_Mutation | rs576536579 | c.1219A>T | p.Asn407Tyr | p.N407Y | P22033 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MUT | SNV | Missense_Mutation | rs141829043 | c.1763N>A | p.Arg588His | p.R588H | P22033 | protein_coding | deleterious_low_confidence(0.05) | probably_damaging(0.977) | TCGA-A6-5661-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MUT | SNV | Missense_Mutation | rs121918251 | c.278G>A | p.Arg93His | p.R93H | P22033 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-A6-6653-01 | 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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