Tissue | Expression Dynamics | Abbreviation |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:000616320 | Oral cavity | OSCC | purine nucleotide metabolic process | 188/7305 | 396/18723 | 3.31e-04 | 2.04e-03 | 188 |
GO:00018388 | Oral cavity | OSCC | embryonic epithelial tube formation | 66/7305 | 121/18723 | 3.70e-04 | 2.26e-03 | 66 |
GO:003514810 | Oral cavity | OSCC | tube formation | 78/7305 | 148/18723 | 4.82e-04 | 2.85e-03 | 78 |
GO:00163315 | Oral cavity | OSCC | morphogenesis of embryonic epithelium | 77/7305 | 147/18723 | 6.63e-04 | 3.72e-03 | 77 |
GO:19012938 | Oral cavity | OSCC | nucleoside phosphate biosynthetic process | 125/7305 | 256/18723 | 8.32e-04 | 4.41e-03 | 125 |
GO:00091658 | Oral cavity | OSCC | nucleotide biosynthetic process | 124/7305 | 254/18723 | 8.79e-04 | 4.63e-03 | 124 |
GO:00721758 | Oral cavity | OSCC | epithelial tube formation | 69/7305 | 132/18723 | 1.32e-03 | 6.56e-03 | 69 |
GO:00219158 | Oral cavity | OSCC | neural tube development | 77/7305 | 152/18723 | 2.26e-03 | 1.00e-02 | 77 |
GO:00086524 | Oral cavity | OSCC | cellular amino acid biosynthetic process | 42/7305 | 76/18723 | 2.93e-03 | 1.27e-02 | 42 |
GO:00065756 | Oral cavity | OSCC | cellular modified amino acid metabolic process | 91/7305 | 188/18723 | 5.33e-03 | 2.07e-02 | 91 |
GO:00436484 | Oral cavity | OSCC | dicarboxylic acid metabolic process | 50/7305 | 96/18723 | 6.24e-03 | 2.35e-02 | 50 |
GO:00605629 | Oral cavity | OSCC | epithelial tube morphogenesis | 149/7305 | 325/18723 | 6.73e-03 | 2.50e-02 | 149 |
GO:19016074 | Oral cavity | OSCC | alpha-amino acid biosynthetic process | 37/7305 | 68/18723 | 7.09e-03 | 2.63e-02 | 37 |
GO:00425583 | Oral cavity | OSCC | pteridine-containing compound metabolic process | 20/7305 | 33/18723 | 9.78e-03 | 3.45e-02 | 20 |
GO:00093961 | Oral cavity | OSCC | folic acid-containing compound biosynthetic process | 8/7305 | 10/18723 | 1.03e-02 | 3.53e-02 | 8 |
GO:00359992 | Oral cavity | OSCC | tetrahydrofolate interconversion | 8/7305 | 10/18723 | 1.03e-02 | 3.53e-02 | 8 |
GO:0048703 | Oral cavity | OSCC | embryonic viscerocranium morphogenesis | 8/7305 | 10/18723 | 1.03e-02 | 3.53e-02 | 8 |
GO:1904888 | Oral cavity | OSCC | cranial skeletal system development | 36/7305 | 68/18723 | 1.36e-02 | 4.50e-02 | 36 |
GO:000675319 | Oral cavity | LP | nucleoside phosphate metabolic process | 161/4623 | 497/18723 | 5.31e-05 | 7.39e-04 | 161 |
GO:0009117110 | Oral cavity | LP | nucleotide metabolic process | 158/4623 | 489/18723 | 7.17e-05 | 9.49e-04 | 158 |
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 |