Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/MCC_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | ![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/Endometrium/MCC_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/MCC_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/MCC_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | ![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/Prostate/MCC_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/MCC_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/MCC_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:007252128 | Thyroid | ATC | purine-containing compound metabolic process | 189/6293 | 416/18723 | 2.83e-07 | 4.29e-06 | 189 |
GO:0006753111 | Thyroid | ATC | nucleoside phosphate metabolic process | 219/6293 | 497/18723 | 5.92e-07 | 8.29e-06 | 219 |
GO:0009117112 | Thyroid | ATC | nucleotide metabolic process | 215/6293 | 489/18723 | 9.09e-07 | 1.20e-05 | 215 |
GO:001063231 | Thyroid | ATC | regulation of epithelial cell migration | 137/6293 | 292/18723 | 1.44e-06 | 1.77e-05 | 137 |
GO:000702921 | Thyroid | ATC | endoplasmic reticulum organization | 51/6293 | 87/18723 | 1.47e-06 | 1.81e-05 | 51 |
GO:000616328 | Thyroid | ATC | purine nucleotide metabolic process | 177/6293 | 396/18723 | 2.39e-06 | 2.82e-05 | 177 |
GO:000703216 | Thyroid | ATC | endosome organization | 48/6293 | 82/18723 | 3.13e-06 | 3.56e-05 | 48 |
GO:003017815 | Thyroid | ATC | negative regulation of Wnt signaling pathway | 85/6293 | 170/18723 | 6.94e-06 | 7.16e-05 | 85 |
GO:009009014 | Thyroid | ATC | negative regulation of canonical Wnt signaling pathway | 66/6293 | 137/18723 | 2.82e-04 | 1.80e-03 | 66 |
GO:004001316 | Thyroid | ATC | negative regulation of locomotion | 160/6293 | 391/18723 | 1.36e-03 | 7.07e-03 | 160 |
GO:003033616 | Thyroid | ATC | negative regulation of cell migration | 142/6293 | 344/18723 | 1.64e-03 | 8.22e-03 | 142 |
GO:005127117 | Thyroid | ATC | negative regulation of cellular component movement | 150/6293 | 367/18723 | 1.99e-03 | 9.54e-03 | 150 |
GO:200014617 | Thyroid | ATC | negative regulation of cell motility | 147/6293 | 359/18723 | 2.01e-03 | 9.60e-03 | 147 |
GO:0050673111 | Thyroid | ATC | epithelial cell proliferation | 174/6293 | 437/18723 | 3.49e-03 | 1.55e-02 | 174 |
GO:0050678110 | Thyroid | ATC | regulation of epithelial cell proliferation | 151/6293 | 381/18723 | 7.47e-03 | 2.92e-02 | 151 |
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 |
MCC | SNV | Missense_Mutation | novel | c.2910N>C | p.Lys970Asn | p.K970N | P23508 | protein_coding | deleterious(0.05) | probably_damaging(0.99) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
MCC | SNV | Missense_Mutation | | c.284N>C | p.Arg95Thr | p.R95T | P23508 | protein_coding | deleterious_low_confidence(0.01) | benign(0.172) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MCC | SNV | Missense_Mutation | | c.1539N>G | p.Ile513Met | p.I513M | P23508 | protein_coding | deleterious(0.01) | probably_damaging(0.987) | TCGA-C8-A132-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCC | SNV | Missense_Mutation | | c.3046N>A | p.Glu1016Lys | p.E1016K | P23508 | protein_coding | deleterious(0.01) | probably_damaging(0.979) | TCGA-D8-A145-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
MCC | SNV | Missense_Mutation | novel | c.1436N>A | p.Ala479Asp | p.A479D | P23508 | protein_coding | tolerated(0.33) | probably_damaging(0.994) | TCGA-D8-A27M-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | methotrexate+5 | SD |
MCC | insertion | Frame_Shift_Ins | novel | c.2771_2772insTGGAGTGCCCCAACTCAACCCTTGGGGTGACTGG | p.Lys924AsnfsTer30 | p.K924Nfs*30 | P23508 | protein_coding | | | TCGA-A8-A0A1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
MCC | insertion | Nonsense_Mutation | novel | c.1679_1680insTTAAA | p.Cys561Ter | p.C561* | P23508 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
MCC | insertion | Nonsense_Mutation | novel | c.1677_1678insATAATCGTGTGGTTTTTGTCTTTGGTTCTATTTATATGATG | p.Asp560IlefsTer13 | p.D560Ifs*13 | P23508 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
MCC | SNV | Missense_Mutation | | c.2899G>C | p.Glu967Gln | p.E967Q | P23508 | protein_coding | deleterious(0.01) | probably_damaging(0.986) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
MCC | SNV | Missense_Mutation | rs369310896 | c.1723N>A | p.Gly575Arg | p.G575R | P23508 | protein_coding | tolerated(0.24) | probably_damaging(0.998) | TCGA-Q1-A73P-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |