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/SHMT1_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/SHMT1_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/SHMT1_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/SHMT1_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/SHMT1_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: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:003424921 | Liver | HCC | negative regulation of cellular amide metabolic process | 144/7958 | 273/18723 | 3.80e-04 | 2.61e-03 | 144 |
GO:19016062 | Liver | HCC | alpha-amino acid catabolic process | 53/7958 | 87/18723 | 4.01e-04 | 2.71e-03 | 53 |
GO:0042440 | Liver | HCC | pigment metabolic process | 51/7958 | 84/18723 | 5.74e-04 | 3.65e-03 | 51 |
GO:001714821 | Liver | HCC | negative regulation of translation | 129/7958 | 245/18723 | 8.14e-04 | 4.87e-03 | 129 |
GO:0046655 | Liver | HCC | folic acid metabolic process | 12/7958 | 14/18723 | 1.17e-03 | 6.54e-03 | 12 |
GO:00466531 | Liver | HCC | tetrahydrofolate metabolic process | 15/7958 | 19/18723 | 1.36e-03 | 7.28e-03 | 15 |
GO:00091131 | Liver | HCC | purine nucleobase biosynthetic process | 9/7958 | 10/18723 | 2.79e-03 | 1.31e-02 | 9 |
GO:0051262 | Liver | HCC | protein tetramerization | 50/7958 | 87/18723 | 3.42e-03 | 1.55e-02 | 50 |
GO:0046148 | Liver | HCC | pigment biosynthetic process | 37/7958 | 62/18723 | 4.73e-03 | 2.02e-02 | 37 |
GO:00061441 | Liver | HCC | purine nucleobase metabolic process | 14/7958 | 19/18723 | 5.94e-03 | 2.44e-02 | 14 |
GO:0006766 | Liver | HCC | vitamin metabolic process | 57/7958 | 106/18723 | 1.25e-02 | 4.53e-02 | 57 |
GO:0051289 | Liver | HCC | protein homotetramerization | 33/7958 | 57/18723 | 1.37e-02 | 4.86e-02 | 33 |
GO:000641720 | Oral cavity | OSCC | regulation of translation | 274/7305 | 468/18723 | 4.39e-18 | 4.63e-16 | 274 |
GO:19908237 | Oral cavity | OSCC | response to leukemia inhibitory factor | 58/7305 | 95/18723 | 1.10e-05 | 1.14e-04 | 58 |
GO:19908307 | Oral cavity | OSCC | cellular response to leukemia inhibitory factor | 57/7305 | 94/18723 | 1.75e-05 | 1.71e-04 | 57 |
GO:00091132 | Oral cavity | OSCC | purine nucleobase biosynthetic process | 10/7305 | 10/18723 | 8.14e-05 | 6.26e-04 | 10 |
GO:0051259 | Oral cavity | OSCC | protein complex oligomerization | 121/7305 | 238/18723 | 1.29e-04 | 9.21e-04 | 121 |
GO:007252120 | Oral cavity | OSCC | purine-containing compound metabolic process | 199/7305 | 416/18723 | 1.34e-04 | 9.53e-04 | 199 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0120016 | Esophagus | HGIN | Carbon metabolism | 31/1383 | 115/8465 | 2.51e-03 | 2.10e-02 | 1.67e-02 | 31 |
hsa012306 | Esophagus | HGIN | Biosynthesis of amino acids | 21/1383 | 75/8465 | 7.38e-03 | 4.63e-02 | 3.68e-02 | 21 |
hsa0120017 | Esophagus | HGIN | Carbon metabolism | 31/1383 | 115/8465 | 2.51e-03 | 2.10e-02 | 1.67e-02 | 31 |
hsa0123013 | Esophagus | HGIN | Biosynthesis of amino acids | 21/1383 | 75/8465 | 7.38e-03 | 4.63e-02 | 3.68e-02 | 21 |
hsa0120023 | Esophagus | ESCC | Carbon metabolism | 79/4205 | 115/8465 | 2.50e-05 | 1.21e-04 | 6.22e-05 | 79 |
hsa012405 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0123023 | Esophagus | ESCC | Biosynthesis of amino acids | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa015232 | Esophagus | ESCC | Antifolate resistance | 22/4205 | 30/8465 | 7.23e-03 | 1.76e-02 | 8.99e-03 | 22 |
hsa006306 | Esophagus | ESCC | Glyoxylate and dicarboxylate metabolism | 21/4205 | 30/8465 | 1.95e-02 | 4.35e-02 | 2.23e-02 | 21 |
hsa0120033 | Esophagus | ESCC | Carbon metabolism | 79/4205 | 115/8465 | 2.50e-05 | 1.21e-04 | 6.22e-05 | 79 |
hsa0124012 | Esophagus | ESCC | Biosynthesis of cofactors | 97/4205 | 153/8465 | 3.88e-04 | 1.35e-03 | 6.94e-04 | 97 |
hsa0123033 | Esophagus | ESCC | Biosynthesis of amino acids | 49/4205 | 75/8465 | 4.35e-03 | 1.12e-02 | 5.74e-03 | 49 |
hsa0152311 | Esophagus | ESCC | Antifolate resistance | 22/4205 | 30/8465 | 7.23e-03 | 1.76e-02 | 8.99e-03 | 22 |
hsa0063013 | Esophagus | ESCC | Glyoxylate and dicarboxylate metabolism | 21/4205 | 30/8465 | 1.95e-02 | 4.35e-02 | 2.23e-02 | 21 |
hsa0120010 | Liver | NAFLD | Carbon metabolism | 26/1043 | 115/8465 | 1.39e-03 | 1.71e-02 | 1.38e-02 | 26 |
hsa0120011 | Liver | NAFLD | Carbon metabolism | 26/1043 | 115/8465 | 1.39e-03 | 1.71e-02 | 1.38e-02 | 26 |
hsa0120021 | Liver | Cirrhotic | Carbon metabolism | 64/2530 | 115/8465 | 6.37e-09 | 1.18e-07 | 7.26e-08 | 64 |
hsa006304 | Liver | Cirrhotic | Glyoxylate and dicarboxylate metabolism | 20/2530 | 30/8465 | 3.36e-05 | 2.54e-04 | 1.57e-04 | 20 |
hsa01240 | Liver | Cirrhotic | Biosynthesis of cofactors | 66/2530 | 153/8465 | 3.11e-04 | 1.99e-03 | 1.23e-03 | 66 |
hsa00260 | Liver | Cirrhotic | Glycine, serine and threonine metabolism | 22/2530 | 40/8465 | 7.85e-04 | 4.51e-03 | 2.78e-03 | 22 |
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 |
SHMT1 | SNV | Missense_Mutation | novel | c.800T>A | p.Ile267Asn | p.I267N | P34896 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
SHMT1 | SNV | Missense_Mutation | novel | c.998N>A | p.Ala333Asp | p.A333D | P34896 | protein_coding | tolerated(0.17) | possibly_damaging(0.624) | TCGA-AO-A12A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |
SHMT1 | SNV | Missense_Mutation | novel | c.426N>A | p.Asp142Glu | p.D142E | P34896 | protein_coding | deleterious(0) | probably_damaging(0.964) | TCGA-EW-A2FR-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | epirubicin | SD |
SHMT1 | insertion | Nonsense_Mutation | novel | c.217_218insG | p.Tyr73Ter | p.Y73* | P34896 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
SHMT1 | insertion | In_Frame_Ins | novel | c.216_217insAGGTCAGTGTCATCTGAGGGATGCTGCAGAAGG | p.Lys72_Tyr73insArgSerValSerSerGluGlyCysCysArgArg | p.K72_Y73insRSVSSEGCCRR | P34896 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
SHMT1 | insertion | Nonsense_Mutation | novel | c.501_502insATTATAAAATAAGGTTTGTGTTTGACTATCTTGCCCAGTGGAG | p.Glu168IlefsTer4 | p.E168Ifs*4 | P34896 | protein_coding | | | TCGA-BH-A0HX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adrimycin | SD |
SHMT1 | SNV | Missense_Mutation | rs778033192 | c.1186N>G | p.Leu396Val | p.L396V | P34896 | protein_coding | deleterious(0.02) | benign(0.289) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
SHMT1 | SNV | Missense_Mutation | novel | c.1449N>G | p.Phe483Leu | p.F483L | P34896 | protein_coding | tolerated_low_confidence(0.76) | benign(0) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SHMT1 | SNV | Missense_Mutation | | c.695N>C | p.Ile232Thr | p.I232T | P34896 | protein_coding | deleterious(0.02) | possibly_damaging(0.884) | TCGA-AA-A01P-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
SHMT1 | SNV | Missense_Mutation | | c.137N>C | p.Val46Ala | p.V46A | P34896 | protein_coding | tolerated(0.29) | benign(0.014) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |