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/SEPHS1_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/SEPHS1_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/SEPHS1_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/SEPHS1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00086525 | Esophagus | ESCC | cellular amino acid biosynthetic process | 51/8552 | 76/18723 | 1.30e-04 | 8.88e-04 | 51 |
GO:00463948 | Esophagus | ESCC | carboxylic acid biosynthetic process | 175/8552 | 314/18723 | 1.98e-04 | 1.26e-03 | 175 |
GO:00160538 | Esophagus | ESCC | organic acid biosynthetic process | 175/8552 | 316/18723 | 3.04e-04 | 1.82e-03 | 175 |
GO:19016075 | Esophagus | ESCC | alpha-amino acid biosynthetic process | 45/8552 | 68/18723 | 5.13e-04 | 2.84e-03 | 45 |
GO:001605321 | Liver | HCC | organic acid biosynthetic process | 200/7958 | 316/18723 | 5.24e-14 | 3.22e-12 | 200 |
GO:004639421 | Liver | HCC | carboxylic acid biosynthetic process | 198/7958 | 314/18723 | 1.19e-13 | 6.78e-12 | 198 |
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:00065202 | Liver | HCC | cellular amino acid metabolic process | 167/7958 | 284/18723 | 1.91e-08 | 4.56e-07 | 167 |
GO:00090692 | Liver | HCC | serine family amino acid metabolic process | 29/7958 | 40/18723 | 1.17e-04 | 9.87e-04 | 29 |
GO:00160537 | Oral cavity | OSCC | organic acid biosynthetic process | 155/7305 | 316/18723 | 1.64e-04 | 1.13e-03 | 155 |
GO:00463947 | Oral cavity | OSCC | carboxylic acid biosynthetic process | 154/7305 | 314/18723 | 1.73e-04 | 1.19e-03 | 154 |
GO:00086524 | Oral cavity | OSCC | cellular amino acid biosynthetic process | 42/7305 | 76/18723 | 2.93e-03 | 1.27e-02 | 42 |
GO:19016074 | Oral cavity | OSCC | alpha-amino acid biosynthetic process | 37/7305 | 68/18723 | 7.09e-03 | 2.63e-02 | 37 |
GO:190160711 | Oral cavity | LP | alpha-amino acid biosynthetic process | 28/4623 | 68/18723 | 2.01e-03 | 1.49e-02 | 28 |
GO:000865211 | Oral cavity | LP | cellular amino acid biosynthetic process | 30/4623 | 76/18723 | 3.07e-03 | 2.09e-02 | 30 |
GO:19016076 | Skin | cSCC | alpha-amino acid biosynthetic process | 30/4864 | 68/18723 | 8.91e-04 | 6.10e-03 | 30 |
GO:00086526 | Skin | cSCC | cellular amino acid biosynthetic process | 30/4864 | 76/18723 | 6.79e-03 | 3.29e-02 | 30 |
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 |
SEPHS1 | SNV | Missense_Mutation | | c.230A>G | p.His77Arg | p.H77R | P49903 | protein_coding | deleterious(0.02) | benign(0.054) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SEPHS1 | SNV | Missense_Mutation | novel | c.1175N>T | p.Ser392Phe | p.S392F | P49903 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.485) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
SEPHS1 | SNV | Missense_Mutation | novel | c.794N>C | p.Asp265Ala | p.D265A | P49903 | protein_coding | deleterious(0) | possibly_damaging(0.784) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SEPHS1 | SNV | Missense_Mutation | novel | c.1139N>T | p.Ala380Val | p.A380V | P49903 | protein_coding | deleterious_low_confidence(0.03) | benign(0.077) | TCGA-EY-A549-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SEPHS1 | SNV | Missense_Mutation | novel | c.824C>T | p.Ala275Val | p.A275V | P49903 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-SL-A6JA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SEPHS1 | SNV | Missense_Mutation | | c.290N>G | p.Tyr97Cys | p.Y97C | P49903 | protein_coding | deleterious(0.01) | possibly_damaging(0.604) | TCGA-49-AARQ-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SEPHS1 | SNV | Missense_Mutation | novel | c.400N>A | p.Asp134Asn | p.D134N | P49903 | protein_coding | deleterious(0.02) | benign(0.025) | TCGA-55-8089-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SEPHS1 | SNV | Missense_Mutation | | c.131N>G | p.Ser44Cys | p.S44C | P49903 | protein_coding | deleterious(0.04) | possibly_damaging(0.561) | TCGA-55-A48Y-01 | Lung | lung adenocarcinoma | Male | >=65 | I/II | Chemotherapy | carboplatin | CR |
SEPHS1 | SNV | Missense_Mutation | | c.473N>A | p.Ser158Tyr | p.S158Y | P49903 | protein_coding | deleterious(0.04) | benign(0.063) | TCGA-33-4532-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
SEPHS1 | SNV | Missense_Mutation | novel | c.410N>A | p.Arg137Lys | p.R137K | P49903 | protein_coding | deleterious(0.02) | possibly_damaging(0.812) | TCGA-77-7335-01 | Lung | lung squamous cell carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |