Tissue | Expression Dynamics | Abbreviation |
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/CGNL1_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/CGNL1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/CGNL1_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:0051492111 | Thyroid | PTC | regulation of stress fiber assembly | 50/5968 | 91/18723 | 4.33e-06 | 5.35e-05 | 50 |
GO:003003827 | Thyroid | PTC | contractile actin filament bundle assembly | 56/5968 | 106/18723 | 6.01e-06 | 7.21e-05 | 56 |
GO:004314927 | Thyroid | PTC | stress fiber assembly | 56/5968 | 106/18723 | 6.01e-06 | 7.21e-05 | 56 |
GO:005105617 | Thyroid | PTC | regulation of small GTPase mediated signal transduction | 132/5968 | 302/18723 | 9.26e-06 | 1.04e-04 | 132 |
GO:0110020111 | Thyroid | PTC | regulation of actomyosin structure organization | 53/5968 | 100/18723 | 9.35e-06 | 1.05e-04 | 53 |
GO:0031032110 | Thyroid | PTC | actomyosin structure organization | 91/5968 | 196/18723 | 1.35e-05 | 1.45e-04 | 91 |
GO:1902904111 | Thyroid | PTC | negative regulation of supramolecular fiber organization | 78/5968 | 167/18723 | 4.16e-05 | 3.80e-04 | 78 |
GO:00510586 | Thyroid | PTC | negative regulation of small GTPase mediated signal transduction | 31/5968 | 56/18723 | 2.32e-04 | 1.68e-03 | 31 |
GO:005149419 | Thyroid | PTC | negative regulation of cytoskeleton organization | 73/5968 | 163/18723 | 3.59e-04 | 2.44e-03 | 73 |
GO:0150105110 | Thyroid | PTC | protein localization to cell-cell junction | 14/5968 | 21/18723 | 1.11e-03 | 6.51e-03 | 14 |
GO:19024145 | Thyroid | PTC | protein localization to cell junction | 43/5968 | 94/18723 | 3.32e-03 | 1.62e-02 | 43 |
GO:00514978 | Thyroid | PTC | negative regulation of stress fiber assembly | 17/5968 | 32/18723 | 1.02e-02 | 4.11e-02 | 17 |
GO:1902903210 | Thyroid | ATC | regulation of supramolecular fiber organization | 210/6293 | 383/18723 | 6.20e-18 | 7.54e-16 | 210 |
GO:0032970210 | Thyroid | ATC | regulation of actin filament-based process | 208/6293 | 397/18723 | 5.82e-15 | 3.80e-13 | 208 |
GO:0007015210 | Thyroid | ATC | actin filament organization | 227/6293 | 442/18723 | 5.96e-15 | 3.85e-13 | 227 |
GO:0032956210 | Thyroid | ATC | regulation of actin cytoskeleton organization | 190/6293 | 358/18723 | 1.73e-14 | 1.01e-12 | 190 |
GO:0110053210 | Thyroid | ATC | regulation of actin filament organization | 150/6293 | 278/18723 | 1.82e-12 | 7.58e-11 | 150 |
GO:001063926 | Thyroid | ATC | negative regulation of organelle organization | 179/6293 | 348/18723 | 3.74e-12 | 1.50e-10 | 179 |
GO:0051017210 | Thyroid | ATC | actin filament bundle assembly | 85/6293 | 157/18723 | 8.99e-08 | 1.54e-06 | 85 |
GO:0061572210 | Thyroid | ATC | actin filament bundle organization | 86/6293 | 161/18723 | 1.68e-07 | 2.69e-06 | 86 |
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 |
CGNL1 | SNV | Missense_Mutation | | c.746N>T | p.Ala249Val | p.A249V | Q0VF96 | protein_coding | tolerated(0.19) | benign(0.015) | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CGNL1 | SNV | Missense_Mutation | novel | c.2311N>T | p.Val771Phe | p.V771F | Q0VF96 | protein_coding | deleterious(0) | possibly_damaging(0.897) | TCGA-A2-A0CS-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
CGNL1 | SNV | Missense_Mutation | | c.1538N>T | p.Thr513Ile | p.T513I | Q0VF96 | protein_coding | tolerated(0.2) | benign(0.003) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CGNL1 | SNV | Missense_Mutation | novel | c.739G>C | p.Glu247Gln | p.E247Q | Q0VF96 | protein_coding | tolerated(0.33) | benign(0.003) | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
CGNL1 | SNV | Missense_Mutation | | c.511G>C | p.Glu171Gln | p.E171Q | Q0VF96 | protein_coding | tolerated(0.48) | benign(0.007) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CGNL1 | SNV | Missense_Mutation | novel | c.1130G>T | p.Arg377Ile | p.R377I | Q0VF96 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
CGNL1 | SNV | Missense_Mutation | | c.72N>A | p.Asp24Glu | p.D24E | Q0VF96 | protein_coding | tolerated_low_confidence(0.32) | benign(0) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
CGNL1 | insertion | Nonsense_Mutation | novel | c.1208_1209insGCTCGGTCCCGGAGGTCCTCCTCGTCATCCACAACTC | p.Tyr403Ter | p.Y403* | Q0VF96 | protein_coding | | | TCGA-A7-A0CJ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
CGNL1 | deletion | Frame_Shift_Del | novel | c.738delA | p.Glu247ArgfsTer11 | p.E247Rfs*11 | Q0VF96 | protein_coding | | | TCGA-A8-A08F-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | CR |
CGNL1 | insertion | Nonsense_Mutation | novel | c.694_695insAAATAATATTTTC | p.Ser232Ter | p.S232* | Q0VF96 | protein_coding | | | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |