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/MTHFD1_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/MTHFD1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![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/OralCavity/MTHFD1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![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/Skin/MTHFD1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/MTHFD1_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:0072521110 | Oral cavity | LP | purine-containing compound metabolic process | 130/4623 | 416/18723 | 1.30e-03 | 1.05e-02 | 130 |
GO:004239812 | Oral cavity | LP | cellular modified amino acid biosynthetic process | 21/4623 | 46/18723 | 1.56e-03 | 1.20e-02 | 21 |
GO:000184113 | Oral cavity | LP | neural tube formation | 39/4623 | 102/18723 | 1.64e-03 | 1.25e-02 | 39 |
GO:190129315 | Oral cavity | LP | nucleoside phosphate biosynthetic process | 84/4623 | 256/18723 | 1.98e-03 | 1.47e-02 | 84 |
GO:190160711 | Oral cavity | LP | alpha-amino acid biosynthetic process | 28/4623 | 68/18723 | 2.01e-03 | 1.49e-02 | 28 |
GO:001402013 | Oral cavity | LP | primary neural tube formation | 36/4623 | 94/18723 | 2.34e-03 | 1.68e-02 | 36 |
GO:000916515 | Oral cavity | LP | nucleotide biosynthetic process | 83/4623 | 254/18723 | 2.38e-03 | 1.71e-02 | 83 |
GO:000657512 | Oral cavity | LP | cellular modified amino acid metabolic process | 64/4623 | 188/18723 | 2.43e-03 | 1.73e-02 | 64 |
GO:000865211 | Oral cavity | LP | cellular amino acid biosynthetic process | 30/4623 | 76/18723 | 3.07e-03 | 2.09e-02 | 30 |
GO:0006163110 | Oral cavity | LP | purine nucleotide metabolic process | 122/4623 | 396/18723 | 3.10e-03 | 2.11e-02 | 122 |
GO:000679012 | Oral cavity | LP | sulfur compound metabolic process | 106/4623 | 339/18723 | 3.36e-03 | 2.25e-02 | 106 |
GO:004255912 | Oral cavity | LP | pteridine-containing compound biosynthetic process | 9/4623 | 15/18723 | 3.82e-03 | 2.48e-02 | 9 |
GO:007252210 | Oral cavity | LP | purine-containing compound biosynthetic process | 66/4623 | 200/18723 | 4.84e-03 | 3.05e-02 | 66 |
GO:000184313 | Oral cavity | LP | neural tube closure | 33/4623 | 88/18723 | 5.09e-03 | 3.16e-02 | 33 |
GO:00090673 | Oral cavity | LP | aspartate family amino acid biosynthetic process | 11/4623 | 21/18723 | 5.78e-03 | 3.44e-02 | 11 |
GO:006060613 | Oral cavity | LP | tube closure | 33/4623 | 89/18723 | 6.20e-03 | 3.67e-02 | 33 |
GO:000616410 | Oral cavity | LP | purine nucleotide biosynthetic process | 62/4623 | 191/18723 | 9.12e-03 | 4.86e-02 | 62 |
GO:00485686 | Oral cavity | NEOLP | embryonic organ development | 71/2005 | 427/18723 | 1.12e-04 | 1.34e-03 | 71 |
GO:00487051 | Oral cavity | NEOLP | skeletal system morphogenesis | 36/2005 | 220/18723 | 6.47e-03 | 3.33e-02 | 36 |
GO:0048701 | Oral cavity | NEOLP | embryonic cranial skeleton morphogenesis | 11/2005 | 46/18723 | 7.99e-03 | 3.95e-02 | 11 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa01240 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa012401 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa012402 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa006702 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
hsa012403 | Liver | HCC | Biosynthesis of cofactors | 103/4020 | 153/8465 | 4.67e-07 | 5.05e-06 | 2.81e-06 | 103 |
hsa0067011 | Liver | HCC | One carbon pool by folate | 17/4020 | 20/8465 | 6.04e-04 | 2.50e-03 | 1.39e-03 | 17 |
hsa012404 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0124011 | Oral cavity | OSCC | Biosynthesis of cofactors | 88/3704 | 153/8465 | 3.84e-04 | 1.20e-03 | 6.12e-04 | 88 |
hsa0124021 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
hsa0124031 | Oral cavity | LP | Biosynthesis of cofactors | 57/2418 | 153/8465 | 1.17e-02 | 3.91e-02 | 2.52e-02 | 57 |
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 |
MTHFD1 | SNV | Missense_Mutation | | c.1691N>G | p.Ser564Cys | p.S564C | P11586 | protein_coding | deleterious(0.01) | probably_damaging(0.919) | TCGA-A2-A04P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
MTHFD1 | SNV | Missense_Mutation | | c.808N>G | p.Pro270Ala | p.P270A | P11586 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-A2-A04T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
MTHFD1 | SNV | Missense_Mutation | novel | c.1850N>T | p.Asp617Val | p.D617V | P11586 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MTHFD1 | SNV | Missense_Mutation | | c.1466N>A | p.Phe489Tyr | p.F489Y | P11586 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-A8-A07L-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | | CR |
MTHFD1 | SNV | Missense_Mutation | | c.782C>T | p.Ala261Val | p.A261V | P11586 | protein_coding | tolerated(0.14) | benign(0.139) | TCGA-BH-A0HA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MTHFD1 | SNV | Missense_Mutation | novel | c.560N>T | p.Trp187Leu | p.W187L | P11586 | protein_coding | tolerated(0.72) | possibly_damaging(0.547) | TCGA-C8-A26Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
MTHFD1 | SNV | Missense_Mutation | | c.236N>G | p.Ser79Cys | p.S79C | P11586 | protein_coding | tolerated(0.07) | benign(0.336) | TCGA-C8-A274-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
MTHFD1 | SNV | Missense_Mutation | novel | c.1238N>T | p.Ser413Phe | p.S413F | P11586 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-OL-A5RW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
MTHFD1 | SNV | Missense_Mutation | novel | c.2645N>T | p.Thr882Ile | p.T882I | P11586 | protein_coding | deleterious(0.01) | benign(0.436) | TCGA-S3-AA10-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | CR |
MTHFD1 | insertion | Nonsense_Mutation | novel | c.1852_1853insTGCTCTAAAATAGTCTAGAATGGATTTCTCACAT | p.Ala618ValfsTer3 | p.A618Vfs*3 | P11586 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |