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/NVL_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/NVL_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/NVL_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/NVL_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00510522 | Colorectum | MSS | regulation of DNA metabolic process | 108/3467 | 359/18723 | 5.86e-08 | 3.10e-06 | 108 |
GO:00510542 | Colorectum | MSS | positive regulation of DNA metabolic process | 69/3467 | 201/18723 | 6.33e-08 | 3.26e-06 | 69 |
GO:00510992 | Colorectum | MSS | positive regulation of binding | 59/3467 | 173/18723 | 7.11e-07 | 2.53e-05 | 59 |
GO:00433932 | Colorectum | MSS | regulation of protein binding | 62/3467 | 196/18723 | 6.44e-06 | 1.69e-04 | 62 |
GO:00519722 | Colorectum | MSS | regulation of telomerase activity | 21/3467 | 47/18723 | 3.36e-05 | 6.56e-04 | 21 |
GO:00422732 | Colorectum | MSS | ribosomal large subunit biogenesis | 28/3467 | 72/18723 | 4.16e-05 | 7.83e-04 | 28 |
GO:20002782 | Colorectum | MSS | regulation of DNA biosynthetic process | 37/3467 | 106/18723 | 4.48e-05 | 8.28e-04 | 37 |
GO:20005732 | Colorectum | MSS | positive regulation of DNA biosynthetic process | 26/3467 | 66/18723 | 5.97e-05 | 1.04e-03 | 26 |
GO:00519731 | Colorectum | MSS | positive regulation of telomerase activity | 16/3467 | 34/18723 | 1.36e-04 | 2.04e-03 | 16 |
GO:00422542 | Colorectum | MSS | ribosome biogenesis | 79/3467 | 299/18723 | 4.32e-04 | 5.23e-03 | 79 |
GO:00320921 | Colorectum | MSS | positive regulation of protein binding | 29/3467 | 85/18723 | 4.44e-04 | 5.32e-03 | 29 |
GO:00718972 | Colorectum | MSS | DNA biosynthetic process | 50/3467 | 180/18723 | 1.45e-03 | 1.35e-02 | 50 |
GO:0006364 | Colorectum | MSS | rRNA processing | 58/3467 | 225/18723 | 4.17e-03 | 3.03e-02 | 58 |
GO:0016072 | Colorectum | MSS | rRNA metabolic process | 60/3467 | 236/18723 | 5.01e-03 | 3.46e-02 | 60 |
GO:00510524 | Colorectum | FAP | regulation of DNA metabolic process | 84/2622 | 359/18723 | 9.80e-07 | 4.38e-05 | 84 |
GO:00519724 | Colorectum | FAP | regulation of telomerase activity | 20/2622 | 47/18723 | 1.69e-06 | 7.06e-05 | 20 |
GO:00510544 | Colorectum | FAP | positive regulation of DNA metabolic process | 53/2622 | 201/18723 | 2.55e-06 | 9.82e-05 | 53 |
GO:20002784 | Colorectum | FAP | regulation of DNA biosynthetic process | 33/2622 | 106/18723 | 4.62e-06 | 1.54e-04 | 33 |
GO:00510984 | Colorectum | FAP | regulation of binding | 81/2622 | 363/18723 | 1.04e-05 | 2.97e-04 | 81 |
GO:00519733 | Colorectum | FAP | positive regulation of telomerase activity | 15/2622 | 34/18723 | 1.99e-05 | 4.90e-04 | 15 |
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 |
NVL | SNV | Missense_Mutation | rs755757900 | c.1366G>A | p.Ala456Thr | p.A456T | O15381 | protein_coding | tolerated(0.44) | benign(0) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
NVL | SNV | Missense_Mutation | rs751450518 | c.1543N>G | p.Arg515Gly | p.R515G | O15381 | protein_coding | tolerated(0.41) | benign(0) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
NVL | SNV | Missense_Mutation | | c.2527G>A | p.Asp843Asn | p.D843N | O15381 | protein_coding | deleterious(0.02) | possibly_damaging(0.717) | TCGA-A8-A09K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NVL | SNV | Missense_Mutation | novel | c.968N>C | p.Asp323Ala | p.D323A | O15381 | protein_coding | tolerated(0.22) | benign(0.014) | TCGA-AQ-A1H3-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
NVL | SNV | Missense_Mutation | novel | c.968A>C | p.Asp323Ala | p.D323A | O15381 | protein_coding | tolerated(0.22) | benign(0.014) | TCGA-BH-A1F5-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NVL | SNV | Missense_Mutation | rs376797399 | c.2078G>A | p.Arg693Gln | p.R693Q | O15381 | protein_coding | tolerated(0.59) | benign(0.108) | TCGA-C8-A3M7-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
NVL | SNV | Missense_Mutation | | c.2401T>G | p.Ser801Ala | p.S801A | O15381 | protein_coding | tolerated(0.35) | benign(0.076) | TCGA-D8-A1JK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NVL | SNV | Missense_Mutation | novel | c.968N>C | p.Asp323Ala | p.D323A | O15381 | protein_coding | tolerated(0.22) | benign(0.014) | TCGA-D8-A1JP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
NVL | SNV | Missense_Mutation | novel | c.1885A>G | p.Thr629Ala | p.T629A | O15381 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-JL-A3YW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NVL | SNV | Missense_Mutation | rs761421541 | c.2351G>A | p.Arg784His | p.R784H | O15381 | protein_coding | deleterious(0.04) | benign(0.013) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |