Tissue | Expression Dynamics | Abbreviation |
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 |
Liver | | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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:006075911 | Oral cavity | LP | regulation of response to cytokine stimulus | 61/4623 | 162/18723 | 1.61e-04 | 1.81e-03 | 61 |
GO:000283112 | Oral cavity | LP | regulation of response to biotic stimulus | 109/4623 | 327/18723 | 2.45e-04 | 2.60e-03 | 109 |
GO:006033312 | Oral cavity | LP | interferon-gamma-mediated signaling pathway | 15/4623 | 27/18723 | 5.80e-04 | 5.35e-03 | 15 |
GO:190129315 | Oral cavity | LP | nucleoside phosphate biosynthetic process | 84/4623 | 256/18723 | 1.98e-03 | 1.47e-02 | 84 |
GO:000196111 | Oral cavity | LP | positive regulation of cytokine-mediated signaling pathway | 22/4623 | 50/18723 | 2.18e-03 | 1.58e-02 | 22 |
GO:000916515 | Oral cavity | LP | nucleotide biosynthetic process | 83/4623 | 254/18723 | 2.38e-03 | 1.71e-02 | 83 |
GO:006076011 | Oral cavity | LP | positive regulation of response to cytokine stimulus | 24/4623 | 57/18723 | 2.88e-03 | 2.00e-02 | 24 |
GO:00506911 | Oral cavity | LP | regulation of defense response to virus by host | 18/4623 | 41/18723 | 5.51e-03 | 3.33e-02 | 18 |
GO:00506881 | Oral cavity | LP | regulation of defense response to virus | 27/4623 | 69/18723 | 5.55e-03 | 3.35e-02 | 27 |
GO:000630211 | Oral cavity | LP | double-strand break repair | 80/4623 | 251/18723 | 5.81e-03 | 3.46e-02 | 80 |
GO:000283121 | Oral cavity | EOLP | regulation of response to biotic stimulus | 80/2218 | 327/18723 | 1.31e-10 | 1.43e-08 | 80 |
GO:00607592 | Oral cavity | EOLP | regulation of response to cytokine stimulus | 49/2218 | 162/18723 | 2.70e-10 | 2.45e-08 | 49 |
GO:001603226 | Oral cavity | EOLP | viral process | 94/2218 | 415/18723 | 2.93e-10 | 2.58e-08 | 94 |
GO:003450422 | Oral cavity | EOLP | protein localization to nucleus | 72/2218 | 290/18723 | 5.47e-10 | 4.31e-08 | 72 |
GO:00019592 | Oral cavity | EOLP | regulation of cytokine-mediated signaling pathway | 46/2218 | 150/18723 | 5.71e-10 | 4.44e-08 | 46 |
GO:000961521 | Oral cavity | EOLP | response to virus | 81/2218 | 367/18723 | 1.71e-08 | 7.66e-07 | 81 |
GO:004508821 | Oral cavity | EOLP | regulation of innate immune response | 55/2218 | 218/18723 | 3.22e-08 | 1.26e-06 | 55 |
GO:005109824 | Oral cavity | EOLP | regulation of binding | 79/2218 | 363/18723 | 4.86e-08 | 1.81e-06 | 79 |
GO:190382925 | Oral cavity | EOLP | positive regulation of cellular protein localization | 63/2218 | 276/18723 | 1.84e-07 | 5.87e-06 | 63 |
GO:001922112 | Oral cavity | EOLP | cytokine-mediated signaling pathway | 94/2218 | 472/18723 | 2.36e-07 | 7.37e-06 | 94 |
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 |
PARP9 | SNV | Missense_Mutation | novel | c.914N>A | p.Thr305Asn | p.T305N | Q8IXQ6 | protein_coding | deleterious(0.04) | possibly_damaging(0.598) | TCGA-AC-A5EH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PARP9 | SNV | Missense_Mutation | novel | c.1010N>A | p.Ser337Tyr | p.S337Y | Q8IXQ6 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PARP9 | SNV | Missense_Mutation | | c.2293G>A | p.Glu765Lys | p.E765K | Q8IXQ6 | protein_coding | deleterious(0) | possibly_damaging(0.53) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PARP9 | SNV | Missense_Mutation | | c.152N>T | p.Ser51Leu | p.S51L | Q8IXQ6 | protein_coding | deleterious(0.01) | benign(0.049) | TCGA-BH-A0H7-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
PARP9 | SNV | Missense_Mutation | novel | c.615N>A | p.Asp205Glu | p.D205E | Q8IXQ6 | protein_coding | tolerated(0.53) | benign(0.022) | TCGA-BH-A8FY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PARP9 | SNV | Missense_Mutation | | c.170N>C | p.Gly57Ala | p.G57A | Q8IXQ6 | protein_coding | tolerated(0.72) | benign(0.024) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PARP9 | SNV | Missense_Mutation | | c.1370A>C | p.His457Pro | p.H457P | Q8IXQ6 | protein_coding | deleterious(0.01) | benign(0.015) | TCGA-E9-A1RF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
PARP9 | SNV | Missense_Mutation | novel | c.1903G>C | p.Asp635His | p.D635H | Q8IXQ6 | protein_coding | tolerated(0.15) | possibly_damaging(0.751) | TCGA-EW-A3E8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | anastrozole | SD |
PARP9 | SNV | Missense_Mutation | | c.1678N>T | p.Asp560Tyr | p.D560Y | Q8IXQ6 | protein_coding | deleterious(0.03) | possibly_damaging(0.459) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
PARP9 | insertion | Frame_Shift_Ins | novel | c.1041_1042insCAAAAAACAAACAAAACAACAA | p.Val348GlnfsTer19 | p.V348Qfs*19 | Q8IXQ6 | protein_coding | | | TCGA-AO-A03T-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD |