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:00070157 | Liver | NAFLD | actin filament organization | 78/1882 | 442/18723 | 5.44e-07 | 3.21e-05 | 78 |
GO:00310326 | Liver | NAFLD | actomyosin structure organization | 41/1882 | 196/18723 | 4.26e-06 | 1.66e-04 | 41 |
GO:00510564 | Liver | NAFLD | regulation of small GTPase mediated signal transduction | 56/1882 | 302/18723 | 4.62e-06 | 1.75e-04 | 56 |
GO:19029037 | Liver | NAFLD | regulation of supramolecular fiber organization | 66/1882 | 383/18723 | 8.97e-06 | 2.96e-04 | 66 |
GO:00329707 | Liver | NAFLD | regulation of actin filament-based process | 66/1882 | 397/18723 | 2.92e-05 | 7.72e-04 | 66 |
GO:00329567 | Liver | NAFLD | regulation of actin cytoskeleton organization | 60/1882 | 358/18723 | 5.20e-05 | 1.20e-03 | 60 |
GO:01100537 | Liver | NAFLD | regulation of actin filament organization | 49/1882 | 278/18723 | 6.88e-05 | 1.46e-03 | 49 |
GO:00510583 | Liver | NAFLD | negative regulation of small GTPase mediated signal transduction | 16/1882 | 56/18723 | 8.53e-05 | 1.72e-03 | 16 |
GO:00300387 | Liver | NAFLD | contractile actin filament bundle assembly | 24/1882 | 106/18723 | 1.10e-04 | 2.13e-03 | 24 |
GO:00431497 | Liver | NAFLD | stress fiber assembly | 24/1882 | 106/18723 | 1.10e-04 | 2.13e-03 | 24 |
GO:01100207 | Liver | NAFLD | regulation of actomyosin structure organization | 22/1882 | 100/18723 | 3.22e-04 | 4.98e-03 | 22 |
GO:00514927 | Liver | NAFLD | regulation of stress fiber assembly | 20/1882 | 91/18723 | 5.98e-04 | 7.95e-03 | 20 |
GO:00615727 | Liver | NAFLD | actin filament bundle organization | 29/1882 | 161/18723 | 1.37e-03 | 1.54e-02 | 29 |
GO:00322317 | Liver | NAFLD | regulation of actin filament bundle assembly | 21/1882 | 105/18723 | 1.60e-03 | 1.71e-02 | 21 |
GO:00510177 | Liver | NAFLD | actin filament bundle assembly | 28/1882 | 157/18723 | 1.91e-03 | 1.93e-02 | 28 |
GO:000701512 | Liver | Cirrhotic | actin filament organization | 171/4634 | 442/18723 | 3.93e-11 | 2.30e-09 | 171 |
GO:190290312 | Liver | Cirrhotic | regulation of supramolecular fiber organization | 148/4634 | 383/18723 | 8.85e-10 | 4.08e-08 | 148 |
GO:003297012 | Liver | Cirrhotic | regulation of actin filament-based process | 152/4634 | 397/18723 | 1.12e-09 | 5.00e-08 | 152 |
GO:003295612 | Liver | Cirrhotic | regulation of actin cytoskeleton organization | 136/4634 | 358/18723 | 1.47e-08 | 5.49e-07 | 136 |
GO:005101712 | Liver | Cirrhotic | actin filament bundle assembly | 69/4634 | 157/18723 | 1.06e-07 | 3.05e-06 | 69 |
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 |