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:0051098 | Colorectum | AD | regulation of binding | 126/3918 | 363/18723 | 6.01e-10 | 4.88e-08 | 126 |
GO:0022613 | Colorectum | AD | ribonucleoprotein complex biogenesis | 151/3918 | 463/18723 | 1.96e-09 | 1.39e-07 | 151 |
GO:0051099 | Colorectum | AD | positive regulation of binding | 66/3918 | 173/18723 | 1.47e-07 | 6.64e-06 | 66 |
GO:1900180 | Colorectum | AD | regulation of protein localization to nucleus | 55/3918 | 136/18723 | 1.70e-07 | 7.34e-06 | 55 |
GO:0051052 | Colorectum | AD | regulation of DNA metabolic process | 116/3918 | 359/18723 | 2.47e-07 | 1.00e-05 | 116 |
GO:0051054 | Colorectum | AD | positive regulation of DNA metabolic process | 73/3918 | 201/18723 | 3.27e-07 | 1.29e-05 | 73 |
GO:0034504 | Colorectum | AD | protein localization to nucleus | 94/3918 | 290/18723 | 2.83e-06 | 8.09e-05 | 94 |
GO:0043393 | Colorectum | AD | regulation of protein binding | 68/3918 | 196/18723 | 5.17e-06 | 1.34e-04 | 68 |
GO:2000278 | Colorectum | AD | regulation of DNA biosynthetic process | 41/3918 | 106/18723 | 2.17e-05 | 4.33e-04 | 41 |
GO:2000573 | Colorectum | AD | positive regulation of DNA biosynthetic process | 28/3918 | 66/18723 | 6.35e-05 | 1.05e-03 | 28 |
GO:0051972 | Colorectum | AD | regulation of telomerase activity | 22/3918 | 47/18723 | 6.45e-05 | 1.07e-03 | 22 |
GO:0032092 | Colorectum | AD | positive regulation of protein binding | 33/3918 | 85/18723 | 1.22e-04 | 1.78e-03 | 33 |
GO:0051973 | Colorectum | AD | positive regulation of telomerase activity | 17/3918 | 34/18723 | 1.59e-04 | 2.20e-03 | 17 |
GO:0042273 | Colorectum | AD | ribosomal large subunit biogenesis | 28/3918 | 72/18723 | 3.74e-04 | 4.31e-03 | 28 |
GO:0071897 | Colorectum | AD | DNA biosynthetic process | 55/3918 | 180/18723 | 1.46e-03 | 1.24e-02 | 55 |
GO:0042254 | Colorectum | AD | ribosome biogenesis | 84/3918 | 299/18723 | 1.82e-03 | 1.50e-02 | 84 |
GO:00226132 | Colorectum | MSS | ribonucleoprotein complex biogenesis | 144/3467 | 463/18723 | 2.76e-11 | 3.67e-09 | 144 |
GO:00510982 | Colorectum | MSS | regulation of binding | 113/3467 | 363/18723 | 3.55e-09 | 2.41e-07 | 113 |
GO:19001802 | Colorectum | MSS | regulation of protein localization to nucleus | 54/3467 | 136/18723 | 6.20e-09 | 3.95e-07 | 54 |
GO:00345042 | Colorectum | MSS | protein localization to nucleus | 92/3467 | 290/18723 | 3.66e-08 | 1.98e-06 | 92 |
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 |