Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Esophagus/MTHFR_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Liver/MTHFR_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Prostate | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Prostate/MTHFR_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.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.](images/deg_images/Thyroid/MTHFR_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:003629312 | Liver | HCC | response to decreased oxygen levels | 179/7958 | 322/18723 | 1.29e-06 | 1.87e-05 | 179 |
GO:00165712 | Liver | HCC | histone methylation | 88/7958 | 141/18723 | 1.41e-06 | 2.02e-05 | 88 |
GO:007048212 | Liver | HCC | response to oxygen levels | 191/7958 | 347/18723 | 1.42e-06 | 2.03e-05 | 191 |
GO:00090672 | Liver | HCC | aspartate family amino acid biosynthetic process | 19/7958 | 21/18723 | 6.44e-06 | 7.84e-05 | 19 |
GO:00067601 | Liver | HCC | folic acid-containing compound metabolic process | 22/7958 | 26/18723 | 1.23e-05 | 1.39e-04 | 22 |
GO:00090861 | Liver | HCC | methionine biosynthetic process | 12/7958 | 12/18723 | 3.46e-05 | 3.45e-04 | 12 |
GO:00310601 | Liver | HCC | regulation of histone methylation | 46/7958 | 69/18723 | 4.30e-05 | 4.20e-04 | 46 |
GO:000110111 | Liver | HCC | response to acid chemical | 79/7958 | 135/18723 | 1.24e-04 | 1.03e-03 | 79 |
GO:00090662 | Liver | HCC | aspartate family amino acid metabolic process | 34/7958 | 49/18723 | 1.28e-04 | 1.06e-03 | 34 |
GO:00000971 | Liver | HCC | sulfur amino acid biosynthetic process | 15/7958 | 17/18723 | 1.31e-04 | 1.07e-03 | 15 |
GO:00018415 | Liver | HCC | neural tube formation | 62/7958 | 102/18723 | 1.47e-04 | 1.18e-03 | 62 |
GO:00359991 | Liver | HCC | tetrahydrofolate interconversion | 10/7958 | 10/18723 | 1.92e-04 | 1.49e-03 | 10 |
GO:00065551 | Liver | HCC | methionine metabolic process | 14/7958 | 16/18723 | 2.73e-04 | 1.98e-03 | 14 |
GO:004320011 | Liver | HCC | response to amino acid | 68/7958 | 116/18723 | 3.31e-04 | 2.33e-03 | 68 |
GO:0046500 | Liver | HCC | S-adenosylmethionine metabolic process | 13/7958 | 15/18723 | 5.67e-04 | 3.61e-03 | 13 |
GO:00018433 | Liver | HCC | neural tube closure | 53/7958 | 88/18723 | 5.95e-04 | 3.75e-03 | 53 |
GO:00140204 | Liver | HCC | primary neural tube formation | 56/7958 | 94/18723 | 6.19e-04 | 3.86e-03 | 56 |
GO:00705551 | Liver | HCC | response to interleukin-1 | 80/7958 | 143/18723 | 7.95e-04 | 4.77e-03 | 80 |
GO:00606063 | Liver | HCC | tube closure | 53/7958 | 89/18723 | 8.67e-04 | 5.14e-03 | 53 |
GO:00466531 | Liver | HCC | tetrahydrofolate metabolic process | 15/7958 | 19/18723 | 1.36e-03 | 7.28e-03 | 15 |
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 |
MTHFR | SNV | Missense_Mutation | | c.632G>A | p.Gly211Glu | p.G211E | P42898 | protein_coding | tolerated(0.18) | benign(0.01) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MTHFR | SNV | Missense_Mutation | rs757268352 | c.1390N>A | p.Glu464Lys | p.E464K | P42898 | protein_coding | tolerated(0.21) | benign(0.013) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MTHFR | SNV | Missense_Mutation | | c.1681G>C | p.Glu561Gln | p.E561Q | P42898 | protein_coding | tolerated(0.08) | possibly_damaging(0.623) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTHFR | SNV | Missense_Mutation | | c.1585A>G | p.Ile529Val | p.I529V | P42898 | protein_coding | tolerated(1) | benign(0.003) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTHFR | SNV | Missense_Mutation | | c.1499N>T | p.Pro500Leu | p.P500L | P42898 | protein_coding | tolerated(0.07) | possibly_damaging(0.741) | TCGA-C5-A1M9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
MTHFR | SNV | Missense_Mutation | rs772932189 | c.596N>A | p.Gly199Glu | p.G199E | P42898 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
MTHFR | SNV | Missense_Mutation | rs121434297 | c.1091N>C | p.Leu364Pro | p.L364P | P42898 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C5-A3HL-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
MTHFR | SNV | Missense_Mutation | | c.456N>A | p.Met152Ile | p.M152I | P42898 | protein_coding | tolerated(0.19) | benign(0.001) | TCGA-EK-A2R7-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MTHFR | SNV | Missense_Mutation | | c.139A>G | p.Arg47Gly | p.R47G | P42898 | protein_coding | tolerated_low_confidence(0.07) | benign(0) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MTHFR | SNV | Missense_Mutation | novel | c.867N>G | p.Ile289Met | p.I289M | P42898 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-ZJ-AB0I-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | pravastatin | PRAVASTATIN | 18622257 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | sulfasalazine | SULFASALAZINE | 12083967 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | ETHANOL | ALCOHOL | 15894672 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | olanzapine | OLANZAPINE | 24725652 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | ALBUMIN | ALBUMIN HUMAN | 11531629 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | leucovorin | LEUCOVORIN | 18245544,17700593,29845393,27864592,20819423,29134491,25331073,20385995,27557140,24980946,23407049 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | l-methylfolate | | 27035272,27520898,31058543 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | cisplatin | CISPLATIN | 21605004,29662106,27995989,20634689,19159907,19307503 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | Vitamin B-complex, Incl. Combinations | | 27035272,27520898,31058543 |
4524 | MTHFR | ENZYME, CLINICALLY ACTIONABLE | | pemetrexed | PEMETREXED | 29662106,24732178,20634689,19307503 |