Tissue | Expression Dynamics | Abbreviation |
Colorectum (GSE201348) | ![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/Colorectum/Becker/HMCES_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/HMCES_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/HMCES_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/HMCES_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/HMCES_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/HMCES_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:0002204 | Esophagus | ESCC | somatic recombination of immunoglobulin genes involved in immune response | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
GO:0002208 | Esophagus | ESCC | somatic diversification of immunoglobulins involved in immune response | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
GO:0045190 | Esophagus | ESCC | isotype switching | 31/8552 | 49/18723 | 9.89e-03 | 3.40e-02 | 31 |
GO:00510546 | Liver | Cirrhotic | positive regulation of DNA metabolic process | 73/4634 | 201/18723 | 1.60e-04 | 1.52e-03 | 73 |
GO:005105211 | Liver | Cirrhotic | regulation of DNA metabolic process | 114/4634 | 359/18723 | 1.48e-03 | 9.85e-03 | 114 |
GO:005105221 | Liver | HCC | regulation of DNA metabolic process | 198/7958 | 359/18723 | 7.62e-07 | 1.17e-05 | 198 |
GO:005105411 | Liver | HCC | positive regulation of DNA metabolic process | 113/7958 | 201/18723 | 5.76e-05 | 5.33e-04 | 113 |
GO:00063021 | Liver | HCC | double-strand break repair | 131/7958 | 251/18723 | 1.17e-03 | 6.54e-03 | 131 |
GO:0002200 | Liver | HCC | somatic diversification of immune receptors | 44/7958 | 77/18723 | 6.70e-03 | 2.72e-02 | 44 |
GO:0016445 | Liver | HCC | somatic diversification of immunoglobulins | 38/7958 | 67/18723 | 1.32e-02 | 4.73e-02 | 38 |
GO:005105210 | Oral cavity | OSCC | regulation of DNA metabolic process | 207/7305 | 359/18723 | 4.45e-13 | 2.17e-11 | 207 |
GO:005105414 | Oral cavity | OSCC | positive regulation of DNA metabolic process | 126/7305 | 201/18723 | 8.12e-12 | 3.01e-10 | 126 |
GO:00063023 | Oral cavity | OSCC | double-strand break repair | 132/7305 | 251/18723 | 7.93e-06 | 8.52e-05 | 132 |
GO:0006310 | Oral cavity | OSCC | DNA recombination | 147/7305 | 305/18723 | 6.33e-04 | 3.56e-03 | 147 |
GO:00027022 | Oral cavity | OSCC | positive regulation of production of molecular mediator of immune response | 58/7305 | 117/18723 | 1.28e-02 | 4.27e-02 | 58 |
GO:00023814 | Oral cavity | OSCC | immunoglobulin production involved in immunoglobulin-mediated immune response | 37/7305 | 70/18723 | 1.28e-02 | 4.28e-02 | 37 |
GO:0016447 | Oral cavity | OSCC | somatic recombination of immunoglobulin gene segments | 31/7305 | 57/18723 | 1.32e-02 | 4.38e-02 | 31 |
GO:00022002 | Oral cavity | OSCC | somatic diversification of immune receptors | 40/7305 | 77/18723 | 1.42e-02 | 4.69e-02 | 40 |
GO:0002562 | Oral cavity | OSCC | somatic diversification of immune receptors via germline recombination within a single locus | 35/7305 | 66/18723 | 1.43e-02 | 4.69e-02 | 35 |
GO:0016444 | Oral cavity | OSCC | somatic cell DNA recombination | 35/7305 | 66/18723 | 1.43e-02 | 4.69e-02 | 35 |
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 |
HMCES | SNV | Missense_Mutation | | c.91G>C | p.Glu31Gln | p.E31Q | Q96FZ2 | protein_coding | tolerated(0.17) | benign(0.026) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | | c.298G>A | p.Asp100Asn | p.D100N | Q96FZ2 | protein_coding | deleterious(0) | probably_damaging(0.961) | TCGA-D8-A1J9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | | c.199N>C | p.Glu67Gln | p.E67Q | Q96FZ2 | protein_coding | deleterious(0.01) | possibly_damaging(0.875) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
HMCES | deletion | Frame_Shift_Del | novel | c.158delN | p.Leu54CysfsTer49 | p.L54Cfs*49 | Q96FZ2 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
HMCES | SNV | Missense_Mutation | rs369963919 | c.1048N>T | p.Arg350Cys | p.R350C | Q96FZ2 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.53) | TCGA-A6-3809-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | rs367763626 | c.779N>A | p.Arg260Gln | p.R260Q | Q96FZ2 | protein_coding | deleterious(0.01) | possibly_damaging(0.847) | TCGA-EI-6917-01 | Colorectum | rectum adenocarcinoma | Male | <65 | III/IV | Chemotherapy | 5fluorouracil+oxaciplatina+l-folinian | SD |
HMCES | insertion | Frame_Shift_Ins | novel | c.700_701insG | p.Thr234SerfsTer32 | p.T234Sfs*32 | Q96FZ2 | protein_coding | | | TCGA-AY-4070-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | 5-fu | PD |
HMCES | SNV | Missense_Mutation | novel | c.934N>T | p.Pro312Ser | p.P312S | Q96FZ2 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HMCES | SNV | Missense_Mutation | novel | c.944C>A | p.Ser315Tyr | p.S315Y | Q96FZ2 | protein_coding | deleterious(0) | possibly_damaging(0.862) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
HMCES | SNV | Missense_Mutation | | c.574N>A | p.Leu192Met | p.L192M | Q96FZ2 | protein_coding | deleterious(0.03) | probably_damaging(1) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |