Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/MCCC2_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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/MCCC2_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/MCCC2_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/MCCC2_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/MCCC2_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/MCCC2_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/MCCC2_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:000915014 | Breast | IDC | purine ribonucleotide metabolic process | 55/1434 | 368/18723 | 1.30e-06 | 5.72e-05 | 55 |
GO:001969314 | Breast | IDC | ribose phosphate metabolic process | 58/1434 | 396/18723 | 1.31e-06 | 5.73e-05 | 58 |
GO:000675313 | Breast | IDC | nucleoside phosphate metabolic process | 68/1434 | 497/18723 | 2.01e-06 | 8.23e-05 | 68 |
GO:000911713 | Breast | IDC | nucleotide metabolic process | 67/1434 | 489/18723 | 2.28e-06 | 9.05e-05 | 67 |
GO:000925914 | Breast | IDC | ribonucleotide metabolic process | 56/1434 | 385/18723 | 2.47e-06 | 9.63e-05 | 56 |
GO:000616314 | Breast | IDC | purine nucleotide metabolic process | 56/1434 | 396/18723 | 5.90e-06 | 1.90e-04 | 56 |
GO:007252114 | Breast | IDC | purine-containing compound metabolic process | 57/1434 | 416/18723 | 1.28e-05 | 3.31e-04 | 57 |
GO:001969324 | Breast | DCIS | ribose phosphate metabolic process | 58/1390 | 396/18723 | 4.80e-07 | 2.11e-05 | 58 |
GO:000915024 | Breast | DCIS | purine ribonucleotide metabolic process | 55/1390 | 368/18723 | 4.92e-07 | 2.14e-05 | 55 |
GO:000925924 | Breast | DCIS | ribonucleotide metabolic process | 56/1390 | 385/18723 | 9.44e-07 | 3.79e-05 | 56 |
GO:000616324 | Breast | DCIS | purine nucleotide metabolic process | 56/1390 | 396/18723 | 2.31e-06 | 8.29e-05 | 56 |
GO:000911723 | Breast | DCIS | nucleotide metabolic process | 65/1390 | 489/18723 | 3.19e-06 | 1.03e-04 | 65 |
GO:007252124 | Breast | DCIS | purine-containing compound metabolic process | 57/1390 | 416/18723 | 5.07e-06 | 1.48e-04 | 57 |
GO:000675323 | Breast | DCIS | nucleoside phosphate metabolic process | 65/1390 | 497/18723 | 5.51e-06 | 1.59e-04 | 65 |
GO:000911720 | Esophagus | HGIN | nucleotide metabolic process | 92/2587 | 489/18723 | 1.11e-03 | 1.36e-02 | 92 |
GO:000675320 | Esophagus | HGIN | nucleoside phosphate metabolic process | 93/2587 | 497/18723 | 1.25e-03 | 1.49e-02 | 93 |
GO:000915026 | Esophagus | HGIN | purine ribonucleotide metabolic process | 71/2587 | 368/18723 | 2.00e-03 | 2.11e-02 | 71 |
GO:000616325 | Esophagus | HGIN | purine nucleotide metabolic process | 75/2587 | 396/18723 | 2.53e-03 | 2.51e-02 | 75 |
GO:001969320 | Esophagus | HGIN | ribose phosphate metabolic process | 75/2587 | 396/18723 | 2.53e-03 | 2.51e-02 | 75 |
GO:007252125 | Esophagus | HGIN | purine-containing compound metabolic process | 78/2587 | 416/18723 | 2.78e-03 | 2.73e-02 | 78 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa002809 | Esophagus | ESCC | Valine, leucine and isoleucine degradation | 34/4205 | 48/8465 | 2.34e-03 | 6.54e-03 | 3.35e-03 | 34 |
hsa0028014 | Esophagus | ESCC | Valine, leucine and isoleucine degradation | 34/4205 | 48/8465 | 2.34e-03 | 6.54e-03 | 3.35e-03 | 34 |
hsa0028041 | Liver | HCC | Valine, leucine and isoleucine degradation | 41/4020 | 48/8465 | 4.84e-08 | 7.05e-07 | 3.92e-07 | 41 |
hsa0028051 | Liver | HCC | Valine, leucine and isoleucine degradation | 41/4020 | 48/8465 | 4.84e-08 | 7.05e-07 | 3.92e-07 | 41 |
hsa002808 | Oral cavity | OSCC | Valine, leucine and isoleucine degradation | 30/3704 | 48/8465 | 6.75e-03 | 1.57e-02 | 7.99e-03 | 30 |
hsa0028013 | Oral cavity | OSCC | Valine, leucine and isoleucine degradation | 30/3704 | 48/8465 | 6.75e-03 | 1.57e-02 | 7.99e-03 | 30 |
hsa0028022 | Oral cavity | LP | Valine, leucine and isoleucine degradation | 22/2418 | 48/8465 | 7.98e-03 | 3.02e-02 | 1.95e-02 | 22 |
hsa0028032 | Oral cavity | LP | Valine, leucine and isoleucine degradation | 22/2418 | 48/8465 | 7.98e-03 | 3.02e-02 | 1.95e-02 | 22 |
hsa002807 | Prostate | Tumor | Valine, leucine and isoleucine degradation | 20/1791 | 48/8465 | 1.03e-03 | 4.59e-03 | 2.84e-03 | 20 |
hsa0028012 | Prostate | Tumor | Valine, leucine and isoleucine degradation | 20/1791 | 48/8465 | 1.03e-03 | 4.59e-03 | 2.84e-03 | 20 |
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 |
MCCC2 | SNV | Missense_Mutation | novel | c.1525A>G | p.Ile509Val | p.I509V | Q9HCC0 | protein_coding | tolerated_low_confidence(0.09) | benign(0.027) | TCGA-AX-A3FS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | | c.1655N>T | p.Pro552Leu | p.P552L | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.755) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | | c.610N>G | p.Lys204Glu | p.K204E | Q9HCC0 | protein_coding | tolerated_low_confidence(0.45) | benign(0.005) | TCGA-B5-A11H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Hormone Therapy | megace | SD |
MCCC2 | SNV | Missense_Mutation | novel | c.788C>A | p.Ala263Asp | p.A263D | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | novel | c.1016T>C | p.Val339Ala | p.V339A | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.988) | TCGA-B5-A3FA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | rs547662164 | c.577N>T | p.Arg193Cys | p.R193C | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | benign(0.292) | TCGA-BG-A18B-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | | c.1219T>G | p.Phe407Val | p.F407V | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | novel | c.1169N>C | p.Leu390Ser | p.L390S | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.964) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | novel | c.1336N>A | p.Gly446Arg | p.G446R | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.997) | TCGA-EY-A1GC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MCCC2 | SNV | Missense_Mutation | novel | c.1405N>T | p.Arg469Cys | p.R469C | Q9HCC0 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.991) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |