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/MDFI_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/MDFI_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/MDFI_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/MDFI_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/MDFI_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/MDFI_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:00433922 | Breast | IDC | negative regulation of DNA binding | 12/1434 | 52/18723 | 4.51e-04 | 6.07e-03 | 12 |
GO:005110014 | Breast | IDC | negative regulation of binding | 25/1434 | 162/18723 | 5.98e-04 | 7.54e-03 | 25 |
GO:000170113 | Breast | IDC | in utero embryonic development | 42/1434 | 367/18723 | 5.85e-03 | 4.24e-02 | 42 |
GO:005109823 | Breast | DCIS | regulation of binding | 55/1390 | 363/18723 | 3.14e-07 | 1.48e-05 | 55 |
GO:005110123 | Breast | DCIS | regulation of DNA binding | 26/1390 | 118/18723 | 4.09e-07 | 1.87e-05 | 26 |
GO:004518521 | Breast | DCIS | maintenance of protein location | 21/1390 | 94/18723 | 4.12e-06 | 1.24e-04 | 21 |
GO:004860821 | Breast | DCIS | reproductive structure development | 57/1390 | 424/18723 | 9.06e-06 | 2.45e-04 | 57 |
GO:005123523 | Breast | DCIS | maintenance of location | 47/1390 | 327/18723 | 9.55e-06 | 2.56e-04 | 47 |
GO:006145822 | Breast | DCIS | reproductive system development | 57/1390 | 427/18723 | 1.12e-05 | 2.92e-04 | 57 |
GO:000189022 | Breast | DCIS | placenta development | 25/1390 | 144/18723 | 5.57e-05 | 1.13e-03 | 25 |
GO:000189221 | Breast | DCIS | embryonic placenta development | 16/1390 | 82/18723 | 3.02e-04 | 4.38e-03 | 16 |
GO:004339211 | Breast | DCIS | negative regulation of DNA binding | 12/1390 | 52/18723 | 3.40e-04 | 4.87e-03 | 12 |
GO:005110022 | Breast | DCIS | negative regulation of binding | 25/1390 | 162/18723 | 3.77e-04 | 5.27e-03 | 25 |
GO:000170122 | Breast | DCIS | in utero embryonic development | 41/1390 | 367/18723 | 5.74e-03 | 4.13e-02 | 41 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:001605517 | Esophagus | ESCC | Wnt signaling pathway | 268/8552 | 444/18723 | 2.32e-10 | 6.58e-09 | 268 |
GO:019873817 | Esophagus | ESCC | cell-cell signaling by wnt | 269/8552 | 446/18723 | 2.41e-10 | 6.79e-09 | 269 |
GO:0045185111 | Esophagus | ESCC | maintenance of protein location | 71/8552 | 94/18723 | 3.41e-09 | 7.24e-08 | 71 |
GO:0051235110 | Esophagus | ESCC | maintenance of location | 200/8552 | 327/18723 | 1.01e-08 | 2.02e-07 | 200 |
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 |
MDFI | SNV | Missense_Mutation | | c.522C>G | p.Cys174Trp | p.C174W | Q99750 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AO-A0J6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
MDFI | insertion | Nonsense_Mutation | novel | c.637_638insTGGGATTACAGGCATGAGCCACTGGGCCCGGCCGACTTCTCTTA | p.Asp213ValfsTer6 | p.D213Vfs*6 | Q99750 | protein_coding | | | TCGA-A2-A0CU-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
MDFI | SNV | Missense_Mutation | | c.500N>A | p.Cys167Tyr | p.C167Y | Q99750 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-CK-4951-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
MDFI | SNV | Missense_Mutation | | c.500N>A | p.Cys167Tyr | p.C167Y | Q99750 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AG-3909-01 | Colorectum | rectum adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | folinic | CR |
MDFI | SNV | Missense_Mutation | rs770572756 | c.343N>T | p.Arg115Trp | p.R115W | Q99750 | protein_coding | deleterious(0.03) | possibly_damaging(0.528) | TCGA-AJ-A3BG-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
MDFI | SNV | Missense_Mutation | novel | c.446N>G | p.Lys149Arg | p.K149R | Q99750 | protein_coding | tolerated(0.17) | benign(0.01) | TCGA-AX-A3G9-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
MDFI | SNV | Missense_Mutation | rs768704952 | c.382N>T | p.Arg128Trp | p.R128W | Q99750 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-B5-A11H-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Hormone Therapy | megace | SD |
MDFI | SNV | Missense_Mutation | rs753464609 | c.170N>T | p.Ala57Val | p.A57V | Q99750 | protein_coding | tolerated(0.88) | benign(0.003) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MDFI | SNV | Missense_Mutation | rs767995449 | c.409N>A | p.Ala137Thr | p.A137T | Q99750 | protein_coding | tolerated(0.68) | benign(0.009) | TCGA-D1-A167-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MDFI | SNV | Missense_Mutation | novel | c.371N>T | p.Pro124Leu | p.P124L | Q99750 | protein_coding | deleterious(0) | benign(0.036) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |