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/MFSD6_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/MFSD6_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/MFSD6_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:004800220 | Esophagus | ESCC | antigen processing and presentation of peptide antigen | 44/8552 | 62/18723 | 4.81e-05 | 3.78e-04 | 44 |
GO:000247820 | Esophagus | ESCC | antigen processing and presentation of exogenous peptide antigen | 29/8552 | 38/18723 | 1.18e-04 | 8.13e-04 | 29 |
GO:001988225 | Esophagus | ESCC | antigen processing and presentation | 67/8552 | 106/18723 | 2.03e-04 | 1.28e-03 | 67 |
GO:000247418 | Esophagus | ESCC | antigen processing and presentation of peptide antigen via MHC class I | 22/8552 | 28/18723 | 3.95e-04 | 2.26e-03 | 22 |
GO:001988420 | Esophagus | ESCC | antigen processing and presentation of exogenous antigen | 33/8552 | 47/18723 | 5.77e-04 | 3.14e-03 | 33 |
GO:001988220 | Oral cavity | OSCC | antigen processing and presentation | 65/7305 | 106/18723 | 2.69e-06 | 3.32e-05 | 65 |
GO:004800219 | Oral cavity | OSCC | antigen processing and presentation of peptide antigen | 40/7305 | 62/18723 | 4.20e-05 | 3.63e-04 | 40 |
GO:000247416 | Oral cavity | OSCC | antigen processing and presentation of peptide antigen via MHC class I | 21/7305 | 28/18723 | 1.19e-04 | 8.54e-04 | 21 |
GO:000247819 | Oral cavity | OSCC | antigen processing and presentation of exogenous peptide antigen | 26/7305 | 38/18723 | 2.29e-04 | 1.49e-03 | 26 |
GO:001988419 | Oral cavity | OSCC | antigen processing and presentation of exogenous antigen | 30/7305 | 47/18723 | 4.96e-04 | 2.92e-03 | 30 |
GO:0019882110 | Oral cavity | LP | antigen processing and presentation | 48/4623 | 106/18723 | 2.96e-06 | 6.44e-05 | 48 |
GO:0048002110 | Oral cavity | LP | antigen processing and presentation of peptide antigen | 30/4623 | 62/18723 | 4.46e-05 | 6.35e-04 | 30 |
GO:0002478110 | Oral cavity | LP | antigen processing and presentation of exogenous peptide antigen | 20/4623 | 38/18723 | 1.95e-04 | 2.15e-03 | 20 |
GO:000247417 | Oral cavity | LP | antigen processing and presentation of peptide antigen via MHC class I | 16/4623 | 28/18723 | 2.46e-04 | 2.60e-03 | 16 |
GO:0019884110 | Oral cavity | LP | antigen processing and presentation of exogenous antigen | 22/4623 | 47/18723 | 8.02e-04 | 7.05e-03 | 22 |
GO:0019882112 | Thyroid | PTC | antigen processing and presentation | 57/5968 | 106/18723 | 2.40e-06 | 3.17e-05 | 57 |
GO:0002478112 | Thyroid | PTC | antigen processing and presentation of exogenous peptide antigen | 25/5968 | 38/18723 | 1.80e-05 | 1.86e-04 | 25 |
GO:0048002112 | Thyroid | PTC | antigen processing and presentation of peptide antigen | 36/5968 | 62/18723 | 1.84e-05 | 1.89e-04 | 36 |
GO:0019884112 | Thyroid | PTC | antigen processing and presentation of exogenous antigen | 29/5968 | 47/18723 | 2.44e-05 | 2.40e-04 | 29 |
GO:0002474110 | Thyroid | PTC | antigen processing and presentation of peptide antigen via MHC class I | 19/5968 | 28/18723 | 9.95e-05 | 8.15e-04 | 19 |
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 |
MFSD6 | SNV | Missense_Mutation | novel | c.174G>T | p.Glu58Asp | p.E58D | Q6ZSS7 | protein_coding | tolerated(0.11) | probably_damaging(0.994) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFSD6 | SNV | Missense_Mutation | novel | c.1598N>T | p.Ala533Val | p.A533V | Q6ZSS7 | protein_coding | deleterious(0.05) | probably_damaging(0.986) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MFSD6 | SNV | Missense_Mutation | novel | c.2184G>T | p.Glu728Asp | p.E728D | Q6ZSS7 | protein_coding | tolerated_low_confidence(0.11) | benign(0.006) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
MFSD6 | SNV | Missense_Mutation | rs776138868 | c.1175G>A | p.Arg392His | p.R392H | Q6ZSS7 | protein_coding | tolerated(0.22) | benign(0.003) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
MFSD6 | SNV | Missense_Mutation | rs759454243 | c.1954G>A | p.Asp652Asn | p.D652N | Q6ZSS7 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.697) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
MFSD6 | deletion | Frame_Shift_Del | | c.1497delT | p.Phe499LeufsTer8 | p.F499Lfs*8 | Q6ZSS7 | protein_coding | | | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFSD6 | insertion | Frame_Shift_Ins | novel | c.2070_2071insTTCTTGCTTTA | p.Ser691PhefsTer4 | p.S691Ffs*4 | Q6ZSS7 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
MFSD6 | insertion | Nonsense_Mutation | novel | c.2072_2073insGTATTAAAATC | p.Ser691ArgfsTer3 | p.S691Rfs*3 | Q6ZSS7 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
MFSD6 | SNV | Missense_Mutation | | c.1894N>G | p.Lys632Glu | p.K632E | Q6ZSS7 | protein_coding | tolerated(0.78) | benign(0.06) | TCGA-CC-A7IK-01 | Liver | liver hepatocellular carcinoma | Male | <65 | III/IV | Unknown | Unknown | PD |
MFSD6 | SNV | Missense_Mutation | novel | c.1619A>C | p.Glu540Ala | p.E540A | Q6ZSS7 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-DD-AACJ-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |