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/FASTKD2_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/FASTKD2_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/FASTKD2_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/FASTKD2_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/FASTKD2_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:00009591 | Oral cavity | OSCC | mitochondrial RNA metabolic process | 29/7305 | 49/18723 | 3.33e-03 | 1.42e-02 | 29 |
GO:0000963 | Oral cavity | OSCC | mitochondrial RNA processing | 14/7305 | 20/18723 | 4.95e-03 | 1.94e-02 | 14 |
GO:00701311 | Oral cavity | OSCC | positive regulation of mitochondrial translation | 11/7305 | 15/18723 | 7.49e-03 | 2.75e-02 | 11 |
GO:002261329 | Skin | cSCC | ribonucleoprotein complex biogenesis | 302/4864 | 463/18723 | 5.13e-72 | 3.22e-68 | 302 |
GO:004225428 | Skin | cSCC | ribosome biogenesis | 206/4864 | 299/18723 | 3.33e-55 | 1.04e-51 | 206 |
GO:007182629 | Skin | cSCC | ribonucleoprotein complex subunit organization | 140/4864 | 227/18723 | 5.54e-30 | 3.16e-27 | 140 |
GO:002261829 | Skin | cSCC | ribonucleoprotein complex assembly | 136/4864 | 220/18723 | 2.60e-29 | 1.25e-26 | 136 |
GO:190331126 | Skin | cSCC | regulation of mRNA metabolic process | 162/4864 | 288/18723 | 5.90e-28 | 2.46e-25 | 162 |
GO:000641729 | Skin | cSCC | regulation of translation | 226/4864 | 468/18723 | 8.78e-26 | 2.62e-23 | 226 |
GO:004227328 | Skin | cSCC | ribosomal large subunit biogenesis | 57/4864 | 72/18723 | 4.90e-21 | 8.53e-19 | 57 |
GO:0045727112 | Skin | cSCC | positive regulation of translation | 79/4864 | 136/18723 | 2.09e-15 | 1.75e-13 | 79 |
GO:0006401111 | Skin | cSCC | RNA catabolic process | 133/4864 | 278/18723 | 2.71e-15 | 2.23e-13 | 133 |
GO:003425026 | Skin | cSCC | positive regulation of cellular amide metabolic process | 89/4864 | 162/18723 | 3.95e-15 | 3.06e-13 | 89 |
GO:0006402111 | Skin | cSCC | mRNA catabolic process | 115/4864 | 232/18723 | 9.01e-15 | 6.57e-13 | 115 |
GO:004225529 | Skin | cSCC | ribosome assembly | 44/4864 | 61/18723 | 5.84e-14 | 3.81e-12 | 44 |
GO:0034655111 | Skin | cSCC | nucleobase-containing compound catabolic process | 172/4864 | 407/18723 | 4.11e-13 | 2.43e-11 | 172 |
GO:0046700110 | Skin | cSCC | heterocycle catabolic process | 178/4864 | 445/18723 | 4.45e-11 | 2.13e-09 | 178 |
GO:00325436 | Skin | cSCC | mitochondrial translation | 47/4864 | 76/18723 | 4.70e-11 | 2.22e-09 | 47 |
GO:0044270110 | Skin | cSCC | cellular nitrogen compound catabolic process | 179/4864 | 451/18723 | 8.34e-11 | 3.79e-09 | 179 |
GO:0019439110 | Skin | cSCC | aromatic compound catabolic process | 183/4864 | 467/18723 | 1.76e-10 | 7.68e-09 | 183 |
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 |
FASTKD2 | SNV | Missense_Mutation | | c.2123N>C | p.Ser708Thr | p.S708T | Q9NYY8 | protein_coding | deleterious_low_confidence(0.01) | benign(0.165) | TCGA-A8-A075-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | epirubicin | CR |
FASTKD2 | SNV | Missense_Mutation | | c.1171N>C | p.Asp391His | p.D391H | Q9NYY8 | protein_coding | deleterious(0.02) | probably_damaging(0.923) | TCGA-A8-A07W-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | exemestane | SD |
FASTKD2 | SNV | Missense_Mutation | | c.1391C>T | p.Ser464Phe | p.S464F | Q9NYY8 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-A8-A093-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
FASTKD2 | SNV | Missense_Mutation | | c.589N>A | p.Asp197Asn | p.D197N | Q9NYY8 | protein_coding | tolerated(0.06) | benign(0.011) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
FASTKD2 | SNV | Missense_Mutation | | c.1279N>A | p.Glu427Lys | p.E427K | Q9NYY8 | protein_coding | deleterious(0.03) | probably_damaging(0.999) | TCGA-E9-A1NF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | PD |
FASTKD2 | SNV | Missense_Mutation | novel | c.123N>A | p.Met41Ile | p.M41I | Q9NYY8 | protein_coding | tolerated(0.15) | benign(0.009) | TCGA-EW-A3E8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
FASTKD2 | insertion | Nonsense_Mutation | novel | c.1544_1545insCATTTATTAGTGGTGTCACTCTGGGCAAGCGACTGCCCCTGA | p.Pro515_Phe516insIleTyrTerTrpCysHisSerGlyGlnAlaThrAlaProAsp | p.P515_F516insIY*WCHSGQATAPD | Q9NYY8 | protein_coding | | | TCGA-A8-A07G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | CR |
FASTKD2 | insertion | Frame_Shift_Ins | novel | c.196_197insGTGACCTGGCTTCTTTGAAACTGGAC | p.Asn66SerfsTer39 | p.N66Sfs*39 | Q9NYY8 | protein_coding | | | TCGA-AO-A0J3-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | SD |
FASTKD2 | SNV | Missense_Mutation | rs774329789 | c.1016G>A | p.Arg339Lys | p.R339K | Q9NYY8 | protein_coding | tolerated(0.39) | benign(0.003) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
FASTKD2 | SNV | Missense_Mutation | | c.483N>T | p.Glu161Asp | p.E161D | Q9NYY8 | protein_coding | tolerated(0.07) | benign(0.024) | TCGA-A6-5665-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |