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/MTHFD2_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/MTHFD2_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/MTHFD2_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/MTHFD2_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/MTHFD2_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:00000961 | Liver | Cirrhotic | sulfur amino acid metabolic process | 19/4634 | 34/18723 | 1.01e-04 | 1.05e-03 | 19 |
GO:00091654 | Liver | Cirrhotic | nucleotide biosynthetic process | 89/4634 | 254/18723 | 1.45e-04 | 1.40e-03 | 89 |
GO:19012934 | Liver | Cirrhotic | nucleoside phosphate biosynthetic process | 89/4634 | 256/18723 | 1.97e-04 | 1.82e-03 | 89 |
GO:00725225 | Liver | Cirrhotic | purine-containing compound biosynthetic process | 69/4634 | 200/18723 | 1.22e-03 | 8.24e-03 | 69 |
GO:00061645 | Liver | Cirrhotic | purine nucleotide biosynthetic process | 65/4634 | 191/18723 | 2.42e-03 | 1.46e-02 | 65 |
GO:00090661 | Liver | Cirrhotic | aspartate family amino acid metabolic process | 21/4634 | 49/18723 | 4.13e-03 | 2.21e-02 | 21 |
GO:00090671 | Liver | Cirrhotic | aspartate family amino acid biosynthetic process | 11/4634 | 21/18723 | 5.89e-03 | 2.95e-02 | 11 |
GO:00067303 | Liver | Cirrhotic | one-carbon metabolic process | 17/4634 | 40/18723 | 1.04e-02 | 4.61e-02 | 17 |
GO:000911722 | Liver | HCC | nucleotide metabolic process | 300/7958 | 489/18723 | 1.61e-17 | 1.71e-15 | 300 |
GO:000675322 | Liver | HCC | nucleoside phosphate metabolic process | 304/7958 | 497/18723 | 1.78e-17 | 1.85e-15 | 304 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
GO:000679021 | Liver | HCC | sulfur compound metabolic process | 212/7958 | 339/18723 | 5.60e-14 | 3.39e-12 | 212 |
GO:004639421 | Liver | HCC | carboxylic acid biosynthetic process | 198/7958 | 314/18723 | 1.19e-13 | 6.78e-12 | 198 |
GO:007252122 | Liver | HCC | purine-containing compound metabolic process | 250/7958 | 416/18723 | 2.26e-13 | 1.24e-11 | 250 |
GO:000616322 | Liver | HCC | purine nucleotide metabolic process | 236/7958 | 396/18723 | 3.59e-12 | 1.62e-10 | 236 |
GO:00086522 | Liver | HCC | cellular amino acid biosynthetic process | 58/7958 | 76/18723 | 1.98e-09 | 5.63e-08 | 58 |
GO:19016052 | Liver | HCC | alpha-amino acid metabolic process | 124/7958 | 195/18723 | 2.07e-09 | 5.79e-08 | 124 |
GO:19016072 | Liver | HCC | alpha-amino acid biosynthetic process | 53/7958 | 68/18723 | 2.62e-09 | 7.16e-08 | 53 |
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 |
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 |
MTHFD2 | SNV | Missense_Mutation | | c.582N>C | p.Lys194Asn | p.K194N | P13995 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
MTHFD2 | SNV | Missense_Mutation | | c.254N>A | p.Val85Asp | p.V85D | P13995 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
MTHFD2 | insertion | Frame_Shift_Ins | novel | c.534_535insTCTCTCCCTCCCCATCCCCCTCCTCCTCCCTCTCCTTTCCT | p.Gly179SerfsTer19 | p.G179Sfs*19 | P13995 | protein_coding | | | TCGA-A8-A09T-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
MTHFD2 | SNV | Missense_Mutation | rs771539434 | c.76N>T | p.Arg26Cys | p.R26C | P13995 | protein_coding | tolerated(0.18) | benign(0.006) | TCGA-4J-AA1J-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MTHFD2 | SNV | Missense_Mutation | | c.644C>T | p.Thr215Ile | p.T215I | P13995 | protein_coding | deleterious(0.01) | possibly_damaging(0.783) | TCGA-EK-A3GK-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MTHFD2 | SNV | Missense_Mutation | | c.70N>G | p.Arg24Gly | p.R24G | P13995 | protein_coding | tolerated(0.23) | benign(0.026) | TCGA-JW-A5VL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
MTHFD2 | SNV | Missense_Mutation | | c.283N>A | p.Val95Met | p.V95M | P13995 | protein_coding | deleterious(0.02) | possibly_damaging(0.619) | TCGA-AA-3492-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MTHFD2 | SNV | Missense_Mutation | | c.947N>T | p.Thr316Ile | p.T316I | P13995 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AZ-6601-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
MTHFD2 | SNV | Missense_Mutation | novel | c.1018N>A | p.Leu340Met | p.L340M | P13995 | protein_coding | deleterious_low_confidence(0.05) | benign(0.201) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MTHFD2 | SNV | Missense_Mutation | novel | c.859N>T | p.Pro287Ser | p.P287S | P13995 | protein_coding | tolerated(0.42) | benign(0.006) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |