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Gene: MTHFS |
Gene summary for MTHFS |
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Gene information | Species | Human | Gene symbol | MTHFS | Gene ID | 10588 |
Gene name | methenyltetrahydrofolate synthetase | |
Gene Alias | HsT19268 | |
Cytomap | 15q25.1 | |
Gene Type | protein-coding | GO ID | GO:0006082 | UniProtAcc | P49914 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
10588 | MTHFS | HTA11_2487_2000001011 | Human | Colorectum | SER | 1.83e-02 | 1.90e-01 | -0.1808 |
10588 | MTHFS | HTA11_1938_2000001011 | Human | Colorectum | AD | 1.11e-07 | 3.16e-01 | -0.0811 |
10588 | MTHFS | HTA11_78_2000001011 | Human | Colorectum | AD | 4.21e-08 | 2.94e-01 | -0.1088 |
10588 | MTHFS | HTA11_347_2000001011 | Human | Colorectum | AD | 8.80e-18 | 4.43e-01 | -0.1954 |
10588 | MTHFS | HTA11_411_2000001011 | Human | Colorectum | SER | 3.29e-02 | 3.07e-01 | -0.2602 |
10588 | MTHFS | HTA11_696_2000001011 | Human | Colorectum | AD | 1.68e-06 | 2.15e-01 | -0.1464 |
10588 | MTHFS | HTA11_866_2000001011 | Human | Colorectum | AD | 8.10e-03 | 1.40e-01 | -0.1001 |
10588 | MTHFS | HTA11_1391_2000001011 | Human | Colorectum | AD | 3.34e-10 | 3.74e-01 | -0.059 |
10588 | MTHFS | HTA11_866_3004761011 | Human | Colorectum | AD | 7.75e-04 | 1.70e-01 | 0.096 |
10588 | MTHFS | HTA11_7663_2000001011 | Human | Colorectum | SER | 5.18e-05 | 4.06e-01 | 0.0131 |
10588 | MTHFS | HTA11_6801_2000001011 | Human | Colorectum | SER | 3.80e-02 | 3.34e-01 | 0.0171 |
10588 | MTHFS | HTA11_6818_2000001021 | Human | Colorectum | AD | 8.19e-07 | 3.83e-01 | 0.0588 |
10588 | MTHFS | HTA11_99999970781_79442 | Human | Colorectum | MSS | 2.12e-14 | 3.77e-01 | 0.294 |
10588 | MTHFS | HTA11_99999965062_69753 | Human | Colorectum | MSI-H | 2.27e-06 | 8.23e-01 | 0.3487 |
10588 | MTHFS | HTA11_99999965104_69814 | Human | Colorectum | MSS | 2.06e-04 | 2.64e-01 | 0.281 |
10588 | MTHFS | HTA11_99999971662_82457 | Human | Colorectum | MSS | 9.41e-03 | 1.87e-01 | 0.3859 |
10588 | MTHFS | LZE2D | Human | Esophagus | HGIN | 4.36e-02 | 4.18e-01 | 0.0642 |
10588 | MTHFS | LZE2T | Human | Esophagus | ESCC | 4.83e-05 | 6.27e-01 | 0.082 |
10588 | MTHFS | LZE4T | Human | Esophagus | ESCC | 1.81e-28 | 7.56e-01 | 0.0811 |
10588 | MTHFS | LZE5T | Human | Esophagus | ESCC | 4.55e-05 | 3.47e-01 | 0.0514 |
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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:004428221 | Liver | HCC | small molecule catabolic process | 225/7958 | 376/18723 | 6.50e-12 | 2.80e-10 | 225 |
GO:001605421 | Liver | HCC | organic acid catabolic process | 152/7958 | 240/18723 | 5.11e-11 | 1.92e-09 | 152 |
GO:00463952 | Liver | HCC | carboxylic acid catabolic process | 149/7958 | 236/18723 | 1.11e-10 | 3.87e-09 | 149 |
GO:19016052 | Liver | HCC | alpha-amino acid metabolic process | 124/7958 | 195/18723 | 2.07e-09 | 5.79e-08 | 124 |
GO:000657521 | Liver | HCC | cellular modified amino acid metabolic process | 119/7958 | 188/18723 | 6.47e-09 | 1.67e-07 | 119 |
GO:00436482 | Liver | HCC | dicarboxylic acid metabolic process | 68/7958 | 96/18723 | 1.73e-08 | 4.14e-07 | 68 |
GO:00065202 | Liver | HCC | cellular amino acid metabolic process | 167/7958 | 284/18723 | 1.91e-08 | 4.56e-07 | 167 |
GO:00425581 | Liver | HCC | pteridine-containing compound metabolic process | 28/7958 | 33/18723 | 6.57e-07 | 1.03e-05 | 28 |
GO:00067601 | Liver | HCC | folic acid-containing compound metabolic process | 22/7958 | 26/18723 | 1.23e-05 | 1.39e-04 | 22 |
GO:004239821 | Liver | HCC | cellular modified amino acid biosynthetic process | 34/7958 | 46/18723 | 1.53e-05 | 1.67e-04 | 34 |
GO:00359991 | Liver | HCC | tetrahydrofolate interconversion | 10/7958 | 10/18723 | 1.92e-04 | 1.49e-03 | 10 |
GO:0006767 | Liver | HCC | water-soluble vitamin metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:0046655 | Liver | HCC | folic acid metabolic process | 12/7958 | 14/18723 | 1.17e-03 | 6.54e-03 | 12 |
GO:0009064 | Liver | HCC | glutamine family amino acid metabolic process | 47/7958 | 78/18723 | 1.17e-03 | 6.54e-03 | 47 |
GO:00466531 | Liver | HCC | tetrahydrofolate metabolic process | 15/7958 | 19/18723 | 1.36e-03 | 7.28e-03 | 15 |
GO:00425592 | Liver | HCC | pteridine-containing compound biosynthetic process | 12/7958 | 15/18723 | 3.56e-03 | 1.59e-02 | 12 |
GO:0006536 | Liver | HCC | glutamate metabolic process | 21/7958 | 33/18723 | 1.16e-02 | 4.28e-02 | 21 |
GO:0006766 | Liver | HCC | vitamin metabolic process | 57/7958 | 106/18723 | 1.25e-02 | 4.53e-02 | 57 |
GO:004670015 | Oral cavity | OSCC | heterocycle catabolic process | 254/7305 | 445/18723 | 5.07e-15 | 3.31e-13 | 254 |
GO:004427016 | Oral cavity | OSCC | cellular nitrogen compound catabolic process | 256/7305 | 451/18723 | 9.67e-15 | 5.88e-13 | 256 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa00670 | Colorectum | MSI-H | One carbon pool by folate | 7/797 | 20/8465 | 1.65e-03 | 1.73e-02 | 1.45e-02 | 7 |
hsa006701 | Colorectum | MSI-H | One carbon pool by folate | 7/797 | 20/8465 | 1.65e-03 | 1.73e-02 | 1.45e-02 | 7 |
hsa006702 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
hsa0067011 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
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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 |
MTHFS | SNV | Missense_Mutation | c.270N>C | p.Met90Ile | p.M90I | P49914 | protein_coding | deleterious(0) | possibly_damaging(0.88) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
MTHFS | SNV | Missense_Mutation | rs372686234 | c.475N>T | p.Arg159Cys | p.R159C | P49914 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTHFS | SNV | Missense_Mutation | c.251N>T | p.Arg84Leu | p.R84L | P49914 | protein_coding | tolerated(0.18) | benign(0.018) | TCGA-CI-6623-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD | |
MTHFS | SNV | Missense_Mutation | rs144767188 | c.221N>A | p.Arg74Gln | p.R74Q | P49914 | protein_coding | tolerated(1) | benign(0) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MTHFS | SNV | Missense_Mutation | novel | c.446N>A | p.Gly149Asp | p.G149D | P49914 | protein_coding | deleterious(0.04) | probably_damaging(1) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MTHFS | SNV | Missense_Mutation | novel | c.379G>T | p.Gly127Trp | p.G127W | P49914 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
MTHFS | SNV | Missense_Mutation | novel | c.348G>T | p.Glu116Asp | p.E116D | P49914 | protein_coding | tolerated(1) | benign(0.001) | TCGA-MN-A4N4-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
MTHFS | SNV | Missense_Mutation | novel | c.146C>T | p.Ser49Phe | p.S49F | P49914 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-CN-5359-01 | Oral cavity | head & neck squamous cell carcinoma | Male | <65 | I/II | Chemotherapy | cisplatin | PD |
MTHFS | SNV | Missense_Mutation | novel | c.193G>C | p.Glu65Gln | p.E65Q | P49914 | protein_coding | tolerated(0.27) | benign(0.055) | TCGA-CV-7414-01 | Oral cavity | head & neck squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MTHFS | SNV | Missense_Mutation | c.455N>G | p.Tyr152Cys | p.Y152C | P49914 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-BR-8368-01 | Stomach | stomach adenocarcinoma | Female | >=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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