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/SKIL_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/SKIL_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/SKIL_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/SKIL_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/SKIL_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/SKIL_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Lung | ![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/Lung/SKIL_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/SKIL_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/SKIL_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/SKIL_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/SKIL_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:190204120 | Thyroid | PTC | regulation of extrinsic apoptotic signaling pathway via death domain receptors | 29/5968 | 49/18723 | 7.32e-05 | 6.31e-04 | 29 |
GO:00519608 | Thyroid | PTC | regulation of nervous system development | 177/5968 | 443/18723 | 1.72e-04 | 1.32e-03 | 177 |
GO:190222918 | Thyroid | PTC | regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 22/5968 | 36/18723 | 2.85e-04 | 2.02e-03 | 22 |
GO:00900925 | Thyroid | PTC | regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 108/5968 | 256/18723 | 3.07e-04 | 2.14e-03 | 108 |
GO:000182513 | Thyroid | PTC | blastocyst formation | 22/5968 | 38/18723 | 8.19e-04 | 5.07e-03 | 22 |
GO:19020439 | Thyroid | PTC | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 10/5968 | 13/18723 | 1.11e-03 | 6.51e-03 | 10 |
GO:00018246 | Thyroid | PTC | blastocyst development | 49/5968 | 106/18723 | 1.37e-03 | 7.72e-03 | 49 |
GO:00305124 | Thyroid | PTC | negative regulation of transforming growth factor beta receptor signaling pathway | 39/5968 | 81/18723 | 1.61e-03 | 8.93e-03 | 39 |
GO:009028712 | Thyroid | PTC | regulation of cellular response to growth factor stimulus | 120/5968 | 304/18723 | 2.87e-03 | 1.42e-02 | 120 |
GO:00901013 | Thyroid | PTC | negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 56/5968 | 131/18723 | 5.63e-03 | 2.55e-02 | 56 |
GO:200123335 | Thyroid | ATC | regulation of apoptotic signaling pathway | 206/6293 | 356/18723 | 2.81e-21 | 5.92e-19 | 206 |
GO:009719335 | Thyroid | ATC | intrinsic apoptotic signaling pathway | 171/6293 | 288/18723 | 1.86e-19 | 2.67e-17 | 171 |
GO:200124233 | Thyroid | ATC | regulation of intrinsic apoptotic signaling pathway | 103/6293 | 164/18723 | 1.67e-14 | 9.77e-13 | 103 |
GO:003134623 | Thyroid | ATC | positive regulation of cell projection organization | 186/6293 | 353/18723 | 7.99e-14 | 4.23e-12 | 186 |
GO:007155925 | Thyroid | ATC | response to transforming growth factor beta | 142/6293 | 256/18723 | 4.30e-13 | 1.94e-11 | 142 |
GO:0097191210 | Thyroid | ATC | extrinsic apoptotic signaling pathway | 125/6293 | 219/18723 | 7.19e-13 | 3.16e-11 | 125 |
GO:007156026 | Thyroid | ATC | cellular response to transforming growth factor beta stimulus | 137/6293 | 250/18723 | 3.69e-12 | 1.49e-10 | 137 |
GO:000717924 | Thyroid | ATC | transforming growth factor beta receptor signaling pathway | 112/6293 | 198/18723 | 2.42e-11 | 8.44e-10 | 112 |
GO:200102026 | Thyroid | ATC | regulation of response to DNA damage stimulus | 121/6293 | 219/18723 | 3.22e-11 | 1.08e-09 | 121 |
GO:000170126 | Thyroid | ATC | in utero embryonic development | 183/6293 | 367/18723 | 6.62e-11 | 2.11e-09 | 183 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa043504 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa0435011 | Endometrium | AEH | TGF-beta signaling pathway | 26/1197 | 108/8465 | 3.82e-03 | 2.18e-02 | 1.59e-02 | 26 |
hsa043502 | Endometrium | EEC | TGF-beta signaling pathway | 26/1237 | 108/8465 | 5.95e-03 | 3.12e-02 | 2.33e-02 | 26 |
hsa043503 | Endometrium | EEC | TGF-beta signaling pathway | 26/1237 | 108/8465 | 5.95e-03 | 3.12e-02 | 2.33e-02 | 26 |
hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
hsa043506 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0435013 | Oral cavity | OSCC | TGF-beta signaling pathway | 60/3704 | 108/8465 | 8.66e-03 | 1.97e-02 | 1.00e-02 | 60 |
hsa0435022 | Oral cavity | EOLP | TGF-beta signaling pathway | 29/1218 | 108/8465 | 4.81e-04 | 1.92e-03 | 1.13e-03 | 29 |
hsa0435032 | Oral cavity | EOLP | TGF-beta signaling pathway | 29/1218 | 108/8465 | 4.81e-04 | 1.92e-03 | 1.13e-03 | 29 |
hsa0435041 | Oral cavity | NEOLP | TGF-beta signaling pathway | 28/1112 | 108/8465 | 2.46e-04 | 1.62e-03 | 1.02e-03 | 28 |
hsa0435051 | Oral cavity | NEOLP | TGF-beta signaling pathway | 28/1112 | 108/8465 | 2.46e-04 | 1.62e-03 | 1.02e-03 | 28 |
hsa043505 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435012 | Prostate | BPH | TGF-beta signaling pathway | 35/1718 | 108/8465 | 1.98e-03 | 7.92e-03 | 4.90e-03 | 35 |
hsa0435021 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
hsa0435031 | Prostate | Tumor | TGF-beta signaling pathway | 39/1791 | 108/8465 | 2.33e-04 | 1.35e-03 | 8.39e-04 | 39 |
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 |
SKIL | SNV | Missense_Mutation | novel | c.656N>T | p.Gly219Val | p.G219V | P12757 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A7-A4SD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
SKIL | SNV | Missense_Mutation | | c.805C>G | p.Leu269Val | p.L269V | P12757 | protein_coding | deleterious(0.01) | probably_damaging(0.999) | TCGA-AR-A24Z-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
SKIL | SNV | Missense_Mutation | rs752596617 | c.641N>G | p.Asn214Ser | p.N214S | P12757 | protein_coding | tolerated(0.37) | probably_damaging(0.993) | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
SKIL | SNV | Missense_Mutation | | c.567A>T | p.Glu189Asp | p.E189D | P12757 | protein_coding | tolerated(0.16) | benign(0.006) | TCGA-BH-A1FU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
SKIL | insertion | In_Frame_Ins | novel | c.676_677insTCGCCTACTGTATTTCTGCCTCTTCCATCACCT | p.Ala226delinsValAlaTyrCysIleSerAlaSerSerIleThrSer | p.A226delinsVAYCISASSITS | P12757 | protein_coding | | | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SKIL | insertion | Nonsense_Mutation | novel | c.1165_1166insACTGTAGGGATAGGGTATAGTCTAGCCGA | p.Val389AspfsTer7 | p.V389Dfs*7 | P12757 | protein_coding | | | TCGA-A8-A095-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SKIL | deletion | Frame_Shift_Del | novel | c.910delN | p.Val304Ter | p.V304* | P12757 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
SKIL | SNV | Missense_Mutation | novel | c.916C>T | p.His306Tyr | p.H306Y | P12757 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SKIL | SNV | Missense_Mutation | novel | c.1911G>T | p.Arg637Ser | p.R637S | P12757 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SKIL | SNV | Missense_Mutation | | c.472C>G | p.Gln158Glu | p.Q158E | P12757 | protein_coding | tolerated(0.15) | benign(0.231) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |