Tissue | Expression Dynamics | Abbreviation |
Breast | ![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/Breast/PYCARD_pca_on_diff_genes.png) | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | ![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/Cervix/PYCARD_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
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/PYCARD_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/PYCARD_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/PYCARD_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | ![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/GC/PYCARD_pca_on_diff_genes.png) | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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/PYCARD_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![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/Skin/PYCARD_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
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/PYCARD_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:0019882110 | Oral cavity | LP | antigen processing and presentation | 48/4623 | 106/18723 | 2.96e-06 | 6.44e-05 | 48 |
GO:2001236110 | Oral cavity | LP | regulation of extrinsic apoptotic signaling pathway | 63/4623 | 151/18723 | 2.98e-06 | 6.47e-05 | 63 |
GO:004277119 | Oral cavity | LP | intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator | 25/4623 | 43/18723 | 3.00e-06 | 6.47e-05 | 25 |
GO:0032271110 | Oral cavity | LP | regulation of protein polymerization | 89/4623 | 233/18723 | 3.00e-06 | 6.47e-05 | 89 |
GO:1902905110 | Oral cavity | LP | positive regulation of supramolecular fiber organization | 81/4623 | 209/18723 | 4.30e-06 | 8.80e-05 | 81 |
GO:005160711 | Oral cavity | LP | defense response to virus | 97/4623 | 265/18723 | 9.31e-06 | 1.74e-04 | 97 |
GO:014054611 | Oral cavity | LP | defense response to symbiont | 97/4623 | 265/18723 | 9.31e-06 | 1.74e-04 | 97 |
GO:009019913 | Oral cavity | LP | regulation of release of cytochrome c from mitochondria | 26/4623 | 48/18723 | 1.13e-05 | 2.04e-04 | 26 |
GO:1902903110 | Oral cavity | LP | regulation of supramolecular fiber organization | 131/4623 | 383/18723 | 1.58e-05 | 2.78e-04 | 131 |
GO:005109213 | Oral cavity | LP | positive regulation of NF-kappaB transcription factor activity | 61/4623 | 152/18723 | 1.82e-05 | 3.11e-04 | 61 |
GO:001082214 | Oral cavity | LP | positive regulation of mitochondrion organization | 35/4623 | 74/18723 | 1.99e-05 | 3.34e-04 | 35 |
GO:005109015 | Oral cavity | LP | regulation of DNA-binding transcription factor activity | 147/4623 | 440/18723 | 2.00e-05 | 3.35e-04 | 147 |
GO:0042326110 | Oral cavity | LP | negative regulation of phosphorylation | 131/4623 | 385/18723 | 2.10e-05 | 3.46e-04 | 131 |
GO:001648513 | Oral cavity | LP | protein processing | 83/4623 | 225/18723 | 2.87e-05 | 4.52e-04 | 83 |
GO:000691914 | Oral cavity | LP | activation of cysteine-type endopeptidase activity involved in apoptotic process | 36/4623 | 78/18723 | 2.97e-05 | 4.62e-04 | 36 |
GO:003367318 | Oral cavity | LP | negative regulation of kinase activity | 86/4623 | 237/18723 | 4.19e-05 | 6.07e-04 | 86 |
GO:0032970110 | Oral cavity | LP | regulation of actin filament-based process | 133/4623 | 397/18723 | 4.21e-05 | 6.09e-04 | 133 |
GO:0001933110 | Oral cavity | LP | negative regulation of protein phosphorylation | 117/4623 | 342/18723 | 4.34e-05 | 6.22e-04 | 117 |
GO:0048002110 | Oral cavity | LP | antigen processing and presentation of peptide antigen | 30/4623 | 62/18723 | 4.46e-05 | 6.35e-04 | 30 |
GO:000646919 | Oral cavity | LP | negative regulation of protein kinase activity | 78/4623 | 212/18723 | 5.45e-05 | 7.55e-04 | 78 |
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 |
PYCARD | insertion | Nonsense_Mutation | novel | c.461_462insTTAGGAATCACCAAA | p.Thr154_Asn155insTer | p.T154_N155ins* | Q9ULZ3 | protein_coding | | | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
PYCARD | insertion | Frame_Shift_Ins | novel | c.525_526insCACCATGCCCAGCTGACTG | p.Leu176HisfsTer60 | p.L176Hfs*60 | Q9ULZ3 | protein_coding | | | TCGA-B6-A0RE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PYCARD | deletion | Frame_Shift_Del | novel | c.88delG | p.Val30CysfsTer86 | p.V30Cfs*86 | Q9ULZ3 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
PYCARD | SNV | Missense_Mutation | | c.237G>T | p.Gln79His | p.Q79H | Q9ULZ3 | protein_coding | deleterious(0.02) | benign(0.003) | TCGA-AZ-6598-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PYCARD | SNV | Missense_Mutation | novel | c.484C>T | p.Leu162Phe | p.L162F | Q9ULZ3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
PYCARD | SNV | Missense_Mutation | | c.340N>G | p.Phe114Val | p.F114V | Q9ULZ3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DY-A1DG-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
PYCARD | SNV | Missense_Mutation | novel | c.406N>A | p.Leu136Met | p.L136M | Q9ULZ3 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PYCARD | SNV | Missense_Mutation | novel | c.448N>T | p.Arg150Trp | p.R150W | Q9ULZ3 | protein_coding | deleterious(0.03) | probably_damaging(0.93) | TCGA-B5-A5OC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Chemotherapy | cisplatin | SD |
PYCARD | SNV | Missense_Mutation | novel | c.496N>G | p.Thr166Ala | p.T166A | Q9ULZ3 | protein_coding | tolerated(0.97) | benign(0) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
PYCARD | SNV | Missense_Mutation | novel | c.146N>T | p.Ala49Val | p.A49V | Q9ULZ3 | protein_coding | tolerated(0.16) | benign(0.105) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |