Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | 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 | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | | 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:005109115 | Thyroid | PTC | positive regulation of DNA-binding transcription factor activity | 107/5968 | 260/18723 | 9.44e-04 | 5.70e-03 | 107 |
GO:0070302110 | Thyroid | PTC | regulation of stress-activated protein kinase signaling cascade | 83/5968 | 195/18723 | 1.04e-03 | 6.21e-03 | 83 |
GO:00324796 | Thyroid | PTC | regulation of type I interferon production | 45/5968 | 95/18723 | 1.13e-03 | 6.63e-03 | 45 |
GO:00326066 | Thyroid | PTC | type I interferon production | 45/5968 | 95/18723 | 1.13e-03 | 6.63e-03 | 45 |
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:00607597 | Thyroid | PTC | regulation of response to cytokine stimulus | 70/5968 | 162/18723 | 1.54e-03 | 8.58e-03 | 70 |
GO:00902006 | Thyroid | PTC | positive regulation of release of cytochrome c from mitochondria | 17/5968 | 28/18723 | 1.55e-03 | 8.63e-03 | 17 |
GO:0032872110 | Thyroid | PTC | regulation of stress-activated MAPK cascade | 81/5968 | 192/18723 | 1.62e-03 | 8.95e-03 | 81 |
GO:00069074 | Thyroid | PTC | pinocytosis | 14/5968 | 22/18723 | 2.16e-03 | 1.15e-02 | 14 |
GO:2001056111 | Thyroid | PTC | positive regulation of cysteine-type endopeptidase activity | 64/5968 | 148/18723 | 2.33e-03 | 1.23e-02 | 64 |
GO:009019910 | Thyroid | PTC | regulation of release of cytochrome c from mitochondria | 25/5968 | 48/18723 | 2.86e-03 | 1.42e-02 | 25 |
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:00450887 | Thyroid | PTC | regulation of innate immune response | 89/5968 | 218/18723 | 3.16e-03 | 1.55e-02 | 89 |
GO:0002495110 | Thyroid | PTC | antigen processing and presentation of peptide antigen via MHC class II | 19/5968 | 34/18723 | 3.21e-03 | 1.57e-02 | 19 |
GO:00019596 | Thyroid | PTC | regulation of cytokine-mediated signaling pathway | 64/5968 | 150/18723 | 3.43e-03 | 1.66e-02 | 64 |
GO:003320916 | Thyroid | PTC | tumor necrosis factor-mediated signaling pathway | 44/5968 | 99/18723 | 5.77e-03 | 2.60e-02 | 44 |
GO:00705558 | Thyroid | PTC | response to interleukin-1 | 60/5968 | 143/18723 | 6.93e-03 | 2.98e-02 | 60 |
GO:000268718 | Thyroid | PTC | positive regulation of leukocyte migration | 57/5968 | 135/18723 | 7.15e-03 | 3.07e-02 | 57 |
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 |