Tissue | Expression Dynamics | Abbreviation |
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/TTLL12_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/TTLL12_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal 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/TTLL12_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/TTLL12_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/TTLL12_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/TTLL12_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0034340 | Colorectum | AD | response to type I interferon | 22/3918 | 58/18723 | 2.23e-03 | 1.75e-02 | 22 |
GO:0060337 | Colorectum | AD | type I interferon signaling pathway | 19/3918 | 50/18723 | 4.23e-03 | 2.91e-02 | 19 |
GO:0007346 | Colorectum | AD | regulation of mitotic cell cycle | 119/3918 | 457/18723 | 4.60e-03 | 3.14e-02 | 119 |
GO:0071357 | Colorectum | AD | cellular response to type I interferon | 19/3918 | 52/18723 | 6.92e-03 | 4.26e-02 | 19 |
GO:00343401 | Colorectum | SER | response to type I interferon | 17/2897 | 58/18723 | 5.50e-03 | 4.07e-02 | 17 |
GO:00343402 | Colorectum | MSS | response to type I interferon | 20/3467 | 58/18723 | 2.82e-03 | 2.20e-02 | 20 |
GO:00073461 | Colorectum | MSS | regulation of mitotic cell cycle | 108/3467 | 457/18723 | 3.30e-03 | 2.50e-02 | 108 |
GO:000734615 | Esophagus | ESCC | regulation of mitotic cell cycle | 293/8552 | 457/18723 | 8.00e-16 | 5.64e-14 | 293 |
GO:003434013 | Esophagus | ESCC | response to type I interferon | 48/8552 | 58/18723 | 6.18e-09 | 1.26e-07 | 48 |
GO:00603375 | Esophagus | ESCC | type I interferon signaling pathway | 41/8552 | 50/18723 | 1.35e-07 | 2.17e-06 | 41 |
GO:00713575 | Esophagus | ESCC | cellular response to type I interferon | 42/8552 | 52/18723 | 2.15e-07 | 3.30e-06 | 42 |
GO:00028318 | Esophagus | ESCC | regulation of response to biotic stimulus | 191/8552 | 327/18723 | 2.12e-06 | 2.45e-05 | 191 |
GO:00607595 | Esophagus | ESCC | regulation of response to cytokine stimulus | 103/8552 | 162/18723 | 3.14e-06 | 3.53e-05 | 103 |
GO:000283212 | Esophagus | ESCC | negative regulation of response to biotic stimulus | 72/8552 | 108/18723 | 8.36e-06 | 8.11e-05 | 72 |
GO:00019595 | Esophagus | ESCC | regulation of cytokine-mediated signaling pathway | 95/8552 | 150/18723 | 9.48e-06 | 9.04e-05 | 95 |
GO:00603385 | Esophagus | ESCC | regulation of type I interferon-mediated signaling pathway | 29/8552 | 36/18723 | 1.91e-05 | 1.67e-04 | 29 |
GO:00450885 | Esophagus | ESCC | regulation of innate immune response | 125/8552 | 218/18723 | 3.34e-04 | 1.96e-03 | 125 |
GO:00507775 | Esophagus | ESCC | negative regulation of immune response | 112/8552 | 194/18723 | 4.67e-04 | 2.62e-03 | 112 |
GO:000268316 | Esophagus | ESCC | negative regulation of immune system process | 231/8552 | 434/18723 | 8.48e-04 | 4.36e-03 | 231 |
GO:00458245 | Esophagus | ESCC | negative regulation of innate immune response | 45/8552 | 71/18723 | 1.98e-03 | 8.90e-03 | 45 |
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 |
TTLL12 | SNV | Missense_Mutation | rs756769700 | c.632N>T | p.Thr211Met | p.T211M | Q14166 | protein_coding | tolerated(0.38) | benign(0.003) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
TTLL12 | SNV | Missense_Mutation | rs779062023 | c.271C>T | p.Pro91Ser | p.P91S | Q14166 | protein_coding | tolerated(0.2) | benign(0.052) | TCGA-E6-A2P8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
TTLL12 | SNV | Missense_Mutation | novel | c.847N>A | p.Leu283Met | p.L283M | Q14166 | protein_coding | tolerated(0.07) | benign(0.04) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
TTLL12 | SNV | Missense_Mutation | rs138301138 | c.463N>A | p.Gly155Ser | p.G155S | Q14166 | protein_coding | tolerated(0.11) | benign(0.067) | TCGA-EO-A3KX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TTLL12 | SNV | Missense_Mutation | rs774813503 | c.598N>T | p.Arg200Trp | p.R200W | Q14166 | protein_coding | deleterious(0.01) | probably_damaging(0.98) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TTLL12 | SNV | Missense_Mutation | novel | c.485N>A | p.Ala162Asp | p.A162D | Q14166 | protein_coding | tolerated(0.61) | benign(0.003) | TCGA-EY-A215-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TTLL12 | SNV | Missense_Mutation | | c.1009N>T | p.Asn337Tyr | p.N337Y | Q14166 | protein_coding | tolerated(1) | benign(0) | TCGA-UB-A7MB-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Targeted Molecular therapy | sorafenib | PD |
TTLL12 | SNV | Missense_Mutation | | c.1831G>A | p.Asp611Asn | p.D611N | Q14166 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-44-5645-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TTLL12 | SNV | Missense_Mutation | novel | c.566N>A | p.Pro189Gln | p.P189Q | Q14166 | protein_coding | deleterious(0) | probably_damaging(0.92) | TCGA-55-6979-01 | Lung | lung adenocarcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
TTLL12 | SNV | Missense_Mutation | | c.565N>T | p.Pro189Ser | p.P189S | Q14166 | protein_coding | deleterious(0.01) | benign(0.081) | TCGA-18-3407-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |