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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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 |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Oral Cavity | | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Prostate | | BPH: Benign Prostatic Hyperplasia |
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:00305184 | Colorectum | CRC | intracellular steroid hormone receptor signaling pathway | 32/2078 | 116/18723 | 7.37e-07 | 4.79e-05 | 32 |
GO:00485455 | Colorectum | CRC | response to steroid hormone | 67/2078 | 339/18723 | 1.77e-06 | 8.92e-05 | 67 |
GO:00003815 | Colorectum | CRC | regulation of alternative mRNA splicing, via spliceosome | 20/2078 | 60/18723 | 3.80e-06 | 1.61e-04 | 20 |
GO:00190795 | Colorectum | CRC | viral genome replication | 33/2078 | 131/18723 | 4.48e-06 | 1.87e-04 | 33 |
GO:00009563 | Colorectum | CRC | nuclear-transcribed mRNA catabolic process | 29/2078 | 112/18723 | 9.39e-06 | 3.25e-04 | 29 |
GO:00971935 | Colorectum | CRC | intrinsic apoptotic signaling pathway | 57/2078 | 288/18723 | 9.77e-06 | 3.31e-04 | 57 |
GO:00305214 | Colorectum | CRC | androgen receptor signaling pathway | 16/2078 | 44/18723 | 9.94e-06 | 3.31e-04 | 16 |
GO:00616144 | Colorectum | CRC | pri-miRNA transcription by RNA polymerase II | 18/2078 | 55/18723 | 1.53e-05 | 4.70e-04 | 18 |
GO:00071783 | Colorectum | CRC | transmembrane receptor protein serine/threonine kinase signaling pathway | 66/2078 | 355/18723 | 1.74e-05 | 5.28e-04 | 66 |
GO:00346555 | Colorectum | CRC | nucleobase-containing compound catabolic process | 73/2078 | 407/18723 | 2.28e-05 | 6.57e-04 | 73 |
GO:20010205 | Colorectum | CRC | regulation of response to DNA damage stimulus | 45/2078 | 219/18723 | 3.13e-05 | 8.09e-04 | 45 |
GO:00442705 | Colorectum | CRC | cellular nitrogen compound catabolic process | 78/2078 | 451/18723 | 4.48e-05 | 1.07e-03 | 78 |
GO:00467005 | Colorectum | CRC | heterocycle catabolic process | 77/2078 | 445/18723 | 4.92e-05 | 1.14e-03 | 77 |
GO:00723315 | Colorectum | CRC | signal transduction by p53 class mediator | 35/2078 | 163/18723 | 9.10e-05 | 1.85e-03 | 35 |
GO:20010223 | Colorectum | CRC | positive regulation of response to DNA damage stimulus | 25/2078 | 105/18723 | 1.64e-04 | 2.94e-03 | 25 |
GO:19017985 | Colorectum | CRC | positive regulation of signal transduction by p53 class mediator | 10/2078 | 25/18723 | 1.88e-04 | 3.27e-03 | 10 |
GO:00194395 | Colorectum | CRC | aromatic compound catabolic process | 77/2078 | 467/18723 | 2.42e-04 | 4.00e-03 | 77 |
GO:00450694 | Colorectum | CRC | regulation of viral genome replication | 21/2078 | 85/18723 | 3.11e-04 | 4.86e-03 | 21 |
GO:19013615 | Colorectum | CRC | organic cyclic compound catabolic process | 80/2078 | 495/18723 | 3.52e-04 | 5.34e-03 | 80 |
GO:00351963 | Colorectum | CRC | production of miRNAs involved in gene silencing by miRNA | 15/2078 | 52/18723 | 3.74e-04 | 5.57e-03 | 15 |
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 |
DDX5 | SNV | Missense_Mutation | novel | c.778N>A | p.Pro260Thr | p.P260T | P17844 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AR-A2LL-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
DDX5 | SNV | Missense_Mutation | novel | c.197N>G | p.Ala66Gly | p.A66G | P17844 | protein_coding | tolerated(0.08) | benign(0.027) | TCGA-AR-A5QQ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
DDX5 | SNV | Missense_Mutation | novel | c.991N>T | p.Arg331Cys | p.R331C | P17844 | protein_coding | deleterious(0.01) | benign(0.046) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
DDX5 | SNV | Missense_Mutation | | c.1379N>G | p.Leu460Arg | p.L460R | P17844 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-BH-A1FC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
DDX5 | SNV | Missense_Mutation | | c.214G>A | p.Glu72Lys | p.E72K | P17844 | protein_coding | deleterious(0) | possibly_damaging(0.662) | TCGA-E9-A1R4-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD |
DDX5 | insertion | Frame_Shift_Ins | novel | c.766dupA | p.Met256AsnfsTer4 | p.M256Nfs*4 | P17844 | protein_coding | | | TCGA-A8-A09Q-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | anastrozole | SD |
DDX5 | insertion | Nonsense_Mutation | novel | c.1032_1033insTTGAATGTGAAAACTTAAGCTGAAAAATTGT | p.Ile345LeufsTer6 | p.I345Lfs*6 | P17844 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DDX5 | deletion | Frame_Shift_Del | rs782756724 | c.1620delC | p.Tyr540Ter | p.Y540* | P17844 | protein_coding | | | TCGA-BH-A0BM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
DDX5 | deletion | Frame_Shift_Del | novel | c.1030delA | p.Thr344ProfsTer18 | p.T344Pfs*18 | P17844 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
DDX5 | SNV | Missense_Mutation | rs781795658 | c.992N>A | p.Arg331His | p.R331H | P17844 | protein_coding | deleterious(0.05) | benign(0.133) | TCGA-C5-A3HE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |