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/NLRP1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/NLRP1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/NLRP1_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:2000116113 | Thyroid | PTC | regulation of cysteine-type endopeptidase activity | 108/5968 | 235/18723 | 3.99e-06 | 4.99e-05 | 108 |
GO:0052547113 | Thyroid | PTC | regulation of peptidase activity | 191/5968 | 461/18723 | 7.82e-06 | 9.02e-05 | 191 |
GO:0052548113 | Thyroid | PTC | regulation of endopeptidase activity | 174/5968 | 432/18723 | 1.20e-04 | 9.55e-04 | 174 |
GO:0010950113 | Thyroid | PTC | positive regulation of endopeptidase activity | 80/5968 | 179/18723 | 2.09e-04 | 1.55e-03 | 80 |
GO:0043280112 | Thyroid | PTC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 58/5968 | 129/18723 | 1.22e-03 | 6.97e-03 | 58 |
GO:00516077 | Thyroid | PTC | defense response to virus | 108/5968 | 265/18723 | 1.34e-03 | 7.55e-03 | 108 |
GO:01405467 | Thyroid | PTC | defense response to symbiont | 108/5968 | 265/18723 | 1.34e-03 | 7.55e-03 | 108 |
GO:2001056111 | Thyroid | PTC | positive regulation of cysteine-type endopeptidase activity | 64/5968 | 148/18723 | 2.33e-03 | 1.23e-02 | 64 |
GO:00069198 | Thyroid | PTC | activation of cysteine-type endopeptidase activity involved in apoptotic process | 37/5968 | 78/18723 | 2.91e-03 | 1.44e-02 | 37 |
GO:00324954 | Thyroid | PTC | response to muramyl dipeptide | 12/5968 | 20/18723 | 8.78e-03 | 3.66e-02 | 12 |
GO:004586234 | Thyroid | ATC | positive regulation of proteolysis | 202/6293 | 372/18723 | 1.07e-16 | 9.42e-15 | 202 |
GO:0070997210 | Thyroid | ATC | neuron death | 176/6293 | 361/18723 | 1.43e-09 | 3.57e-08 | 176 |
GO:0009615111 | Thyroid | ATC | response to virus | 173/6293 | 367/18723 | 4.23e-08 | 7.71e-07 | 173 |
GO:005140227 | Thyroid | ATC | neuron apoptotic process | 120/6293 | 246/18723 | 5.41e-07 | 7.75e-06 | 120 |
GO:004328133 | Thyroid | ATC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 102/6293 | 209/18723 | 3.61e-06 | 4.03e-05 | 102 |
GO:005254734 | Thyroid | ATC | regulation of peptidase activity | 200/6293 | 461/18723 | 6.25e-06 | 6.52e-05 | 200 |
GO:200011633 | Thyroid | ATC | regulation of cysteine-type endopeptidase activity | 111/6293 | 235/18723 | 9.41e-06 | 9.41e-05 | 111 |
GO:001095233 | Thyroid | ATC | positive regulation of peptidase activity | 94/6293 | 197/18723 | 2.67e-05 | 2.28e-04 | 94 |
GO:005254834 | Thyroid | ATC | regulation of endopeptidase activity | 181/6293 | 432/18723 | 1.70e-04 | 1.16e-03 | 181 |
GO:005160712 | Thyroid | ATC | defense response to virus | 115/6293 | 265/18723 | 5.31e-04 | 3.09e-03 | 115 |
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 |
NLRP1 | SNV | Missense_Mutation | | c.2901N>A | p.Met967Ile | p.M967I | Q9C000 | protein_coding | deleterious(0.02) | benign(0.001) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
NLRP1 | SNV | Missense_Mutation | | c.3118N>G | p.Ile1040Val | p.I1040V | Q9C000 | protein_coding | tolerated(0.46) | benign(0) | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
NLRP1 | SNV | Missense_Mutation | | c.1637C>T | p.Thr546Ile | p.T546I | Q9C000 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-BH-A0BV-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
NLRP1 | SNV | Missense_Mutation | novel | c.2506N>A | p.Arg836Ser | p.R836S | Q9C000 | protein_coding | tolerated(0.76) | benign(0.031) | TCGA-BH-A18Q-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NLRP1 | SNV | Missense_Mutation | | c.4275N>C | p.Gln1425His | p.Q1425H | Q9C000 | protein_coding | deleterious(0) | possibly_damaging(0.83) | TCGA-C8-A1HM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | CR |
NLRP1 | SNV | Missense_Mutation | | c.3200N>T | p.Asp1067Val | p.D1067V | Q9C000 | protein_coding | deleterious(0) | possibly_damaging(0.858) | TCGA-D8-A1J8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | nolvadex | SD |
NLRP1 | SNV | Missense_Mutation | | c.839N>T | p.Gln280Leu | p.Q280L | Q9C000 | protein_coding | deleterious(0) | possibly_damaging(0.632) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NLRP1 | SNV | Missense_Mutation | novel | c.712N>C | p.Val238Leu | p.V238L | Q9C000 | protein_coding | tolerated_low_confidence(0.61) | benign(0) | TCGA-E9-A1NC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | CR |
NLRP1 | SNV | Missense_Mutation | rs200333162 | c.526N>A | p.Ala176Thr | p.A176T | Q9C000 | protein_coding | tolerated(0.23) | benign(0.011) | TCGA-OL-A5RU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | CR |
NLRP1 | SNV | Missense_Mutation | rs373530609 | c.2215N>A | p.Glu739Lys | p.E739K | Q9C000 | protein_coding | deleterious(0.04) | benign(0.014) | TCGA-PE-A5DE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |