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/CEP290_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/CEP290_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/CEP290_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/CEP290_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/CEP290_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:003238618 | Esophagus | ESCC | regulation of intracellular transport | 243/8552 | 337/18723 | 3.20e-23 | 7.25e-21 | 243 |
GO:0033157110 | Esophagus | ESCC | regulation of intracellular protein transport | 169/8552 | 229/18723 | 3.31e-18 | 3.23e-16 | 169 |
GO:0032388110 | Esophagus | ESCC | positive regulation of intracellular transport | 152/8552 | 202/18723 | 7.89e-18 | 7.36e-16 | 152 |
GO:1904951111 | Esophagus | ESCC | positive regulation of establishment of protein localization | 216/8552 | 319/18723 | 1.01e-15 | 6.86e-14 | 216 |
GO:009031617 | Esophagus | ESCC | positive regulation of intracellular protein transport | 122/8552 | 160/18723 | 2.45e-15 | 1.49e-13 | 122 |
GO:0051222111 | Esophagus | ESCC | positive regulation of protein transport | 204/8552 | 303/18723 | 1.56e-14 | 8.38e-13 | 204 |
GO:00224069 | Esophagus | ESCC | membrane docking | 62/8552 | 86/18723 | 5.93e-07 | 7.79e-06 | 62 |
GO:003514815 | Esophagus | ESCC | tube formation | 96/8552 | 148/18723 | 1.86e-06 | 2.16e-05 | 96 |
GO:00721759 | Esophagus | ESCC | epithelial tube formation | 86/8552 | 132/18723 | 4.81e-06 | 5.10e-05 | 86 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:01400567 | Esophagus | ESCC | organelle localization by membrane tethering | 53/8552 | 77/18723 | 3.33e-05 | 2.74e-04 | 53 |
GO:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:19055153 | Esophagus | ESCC | non-motile cilium assembly | 39/8552 | 61/18723 | 3.08e-03 | 1.28e-02 | 39 |
GO:00016559 | Esophagus | ESCC | urogenital system development | 177/8552 | 338/18723 | 7.51e-03 | 2.69e-02 | 177 |
GO:003238621 | Liver | HCC | regulation of intracellular transport | 231/7958 | 337/18723 | 1.99e-22 | 3.40e-20 | 231 |
GO:003315721 | Liver | HCC | regulation of intracellular protein transport | 165/7958 | 229/18723 | 8.37e-20 | 1.15e-17 | 165 |
GO:003238821 | Liver | HCC | positive regulation of intracellular transport | 148/7958 | 202/18723 | 5.15e-19 | 6.66e-17 | 148 |
GO:009031621 | Liver | HCC | positive regulation of intracellular protein transport | 121/7958 | 160/18723 | 1.27e-17 | 1.39e-15 | 121 |
GO:190495122 | Liver | HCC | positive regulation of establishment of protein localization | 207/7958 | 319/18723 | 3.95e-16 | 3.29e-14 | 207 |
GO:005122222 | Liver | HCC | positive regulation of protein transport | 194/7958 | 303/18723 | 2.41e-14 | 1.56e-12 | 194 |
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 |
CEP290 | insertion | Frame_Shift_Ins | novel | c.6751_6752insGGAGAAAATCAAGTAC | p.Ala2251GlyfsTer14 | p.A2251Gfs*14 | O15078 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
CEP290 | insertion | Frame_Shift_Ins | novel | c.6749_6750insCGGGG | p.Ala2251GlyfsTer31 | p.A2251Gfs*31 | O15078 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
CEP290 | insertion | Frame_Shift_Ins | novel | c.5733_5734insAT | p.Trp1912IlefsTer12 | p.W1912Ifs*12 | O15078 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
CEP290 | insertion | Nonsense_Mutation | novel | c.5732_5733insTTTATACTAGTTGGTTAGATA | p.Arg1911delinsSerLeuTyrTerLeuValArgTer | p.R1911delinsSLY*LVR* | O15078 | protein_coding | | | TCGA-B5-A11I-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | paclitaxel | PD |
CEP290 | deletion | Frame_Shift_Del | rs781310385 | c.7153delN | p.Ile2385Ter | p.I2385* | O15078 | protein_coding | | | TCGA-BG-A0VZ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |
CEP290 | deletion | Frame_Shift_Del | rs747983279 | c.1666delA | p.Ile556PhefsTer17 | p.I556Ffs*17 | O15078 | protein_coding | | | TCGA-BG-A2L7-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | CR |
CEP290 | insertion | Frame_Shift_Ins | rs281865189 | c.7341_7342insA | p.Leu2448ThrfsTer8 | p.L2448Tfs*8 | O15078 | protein_coding | | | TCGA-BS-A0U8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
CEP290 | insertion | Nonsense_Mutation | novel | c.5753_5754insTATCTTCATGAATCTTACTATCTAGTTTATACTAGTTGGTTAGATAGATTGGGAAGAAGGTAAAAAGTG | p.Lys1917_Trp1918insCysIlePheMetAsnLeuThrIleTerPheIleLeuValGlyTerIleAspTrpGluGluGlyLysLys | p.K1917_W1918insCIFMNLTI*FILVG*IDWEEGKK | O15078 | protein_coding | | | TCGA-D1-A0ZR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
CEP290 | insertion | Frame_Shift_Ins | rs62640570 | c.3175dupA | p.Ile1059AsnfsTer11 | p.I1059Nfs*11 | O15078 | protein_coding | | | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
CEP290 | insertion | Frame_Shift_Ins | novel | c.5115dupA | p.Ser1706IlefsTer2 | p.S1706Ifs*2 | O15078 | protein_coding | | | TCGA-DF-A2KY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |