Tissue | Expression Dynamics | Abbreviation |
Cervix | | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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 |
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:000722914 | Endometrium | EEC | integrin-mediated signaling pathway | 32/2168 | 107/18723 | 2.58e-07 | 1.10e-05 | 32 |
GO:000165512 | Endometrium | EEC | urogenital system development | 69/2168 | 338/18723 | 1.70e-06 | 5.18e-05 | 69 |
GO:007200112 | Endometrium | EEC | renal system development | 63/2168 | 302/18723 | 2.24e-06 | 6.59e-05 | 63 |
GO:004866013 | Endometrium | EEC | regulation of smooth muscle cell proliferation | 43/2168 | 180/18723 | 2.54e-06 | 7.35e-05 | 43 |
GO:004865913 | Endometrium | EEC | smooth muscle cell proliferation | 43/2168 | 184/18723 | 4.65e-06 | 1.16e-04 | 43 |
GO:000182212 | Endometrium | EEC | kidney development | 59/2168 | 293/18723 | 1.44e-05 | 2.87e-04 | 59 |
GO:00330021 | Endometrium | EEC | muscle cell proliferation | 50/2168 | 248/18723 | 6.08e-05 | 9.21e-04 | 50 |
GO:004578713 | Endometrium | EEC | positive regulation of cell cycle | 59/2168 | 313/18723 | 1.04e-04 | 1.44e-03 | 59 |
GO:00426981 | Endometrium | EEC | ovulation cycle | 19/2168 | 68/18723 | 1.84e-04 | 2.26e-03 | 19 |
GO:00465451 | Endometrium | EEC | development of primary female sexual characteristics | 24/2168 | 100/18723 | 3.66e-04 | 3.95e-03 | 24 |
GO:00085851 | Endometrium | EEC | female gonad development | 23/2168 | 95/18723 | 4.20e-04 | 4.40e-03 | 23 |
GO:00466601 | Endometrium | EEC | female sex differentiation | 26/2168 | 114/18723 | 4.99e-04 | 5.05e-03 | 26 |
GO:004477213 | Endometrium | EEC | mitotic cell cycle phase transition | 71/2168 | 424/18723 | 8.68e-04 | 7.97e-03 | 71 |
GO:009006812 | Endometrium | EEC | positive regulation of cell cycle process | 44/2168 | 236/18723 | 9.39e-04 | 8.42e-03 | 44 |
GO:00030071 | Endometrium | EEC | heart morphogenesis | 45/2168 | 246/18723 | 1.24e-03 | 1.03e-02 | 45 |
GO:004866111 | Endometrium | EEC | positive regulation of smooth muscle cell proliferation | 23/2168 | 104/18723 | 1.59e-03 | 1.27e-02 | 23 |
GO:00075481 | Endometrium | EEC | sex differentiation | 48/2168 | 276/18723 | 2.58e-03 | 1.87e-02 | 48 |
GO:004593113 | Endometrium | EEC | positive regulation of mitotic cell cycle | 25/2168 | 121/18723 | 2.76e-03 | 1.97e-02 | 25 |
GO:0022602 | Endometrium | EEC | ovulation cycle process | 12/2168 | 45/18723 | 4.18e-03 | 2.73e-02 | 12 |
GO:004513711 | Endometrium | EEC | development of primary sexual characteristics | 40/2168 | 227/18723 | 4.43e-03 | 2.86e-02 | 40 |
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 |
ADAMTS1 | SNV | Missense_Mutation | novel | c.1879N>A | p.Glu627Lys | p.E627K | Q9UHI8 | protein_coding | deleterious(0.01) | possibly_damaging(0.621) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
ADAMTS1 | SNV | Missense_Mutation | novel | c.2556N>G | p.Ile852Met | p.I852M | Q9UHI8 | protein_coding | deleterious(0.01) | probably_damaging(0.943) | TCGA-A2-A4S1-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADAMTS1 | SNV | Missense_Mutation | | c.2215N>A | p.His739Asn | p.H739N | Q9UHI8 | protein_coding | tolerated(1) | benign(0.005) | TCGA-A8-A09X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ADAMTS1 | SNV | Missense_Mutation | | c.1718N>C | p.Arg573Thr | p.R573T | Q9UHI8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A0TX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ADAMTS1 | SNV | Missense_Mutation | | c.1766N>G | p.Pro589Arg | p.P589R | Q9UHI8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ADAMTS1 | SNV | Missense_Mutation | novel | c.2134N>C | p.Asp712His | p.D712H | Q9UHI8 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-LD-A74U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | taxotere | SD |
ADAMTS1 | SNV | Missense_Mutation | novel | c.2492C>T | p.Ala831Val | p.A831V | Q9UHI8 | protein_coding | tolerated(0.6) | benign(0.021) | TCGA-LL-A6FP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
ADAMTS1 | insertion | In_Frame_Ins | novel | c.1509_1510insTTTTCAAACAATTTTTGTTATACT | p.Ala503_Ser504insPheSerAsnAsnPheCysTyrThr | p.A503_S504insFSNNFCYT | Q9UHI8 | protein_coding | | | TCGA-A8-A06P-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unspecific | | SD |
ADAMTS1 | insertion | Nonsense_Mutation | novel | c.2665_2666insATGTAGGCAATGGTGATAGTTGAGGTTGT | p.Ala889AspfsTer8 | p.A889Dfs*8 | Q9UHI8 | protein_coding | | | TCGA-A8-A0A2-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
ADAMTS1 | insertion | Frame_Shift_Ins | novel | c.1717_1718insCCTGG | p.Arg573ThrfsTer13 | p.R573Tfs*13 | Q9UHI8 | protein_coding | | | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |