Tissue | Expression Dynamics | Abbreviation |
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:0006605111 | Esophagus | ESCC | protein targeting | 229/8552 | 314/18723 | 4.93e-23 | 1.01e-20 | 229 |
GO:00715599 | Esophagus | ESCC | response to transforming growth factor beta | 157/8552 | 256/18723 | 2.95e-07 | 4.23e-06 | 157 |
GO:00715609 | Esophagus | ESCC | cellular response to transforming growth factor beta stimulus | 151/8552 | 250/18723 | 1.78e-06 | 2.10e-05 | 151 |
GO:00071799 | Esophagus | ESCC | transforming growth factor beta receptor signaling pathway | 121/8552 | 198/18723 | 8.26e-06 | 8.03e-05 | 121 |
GO:000717810 | Esophagus | ESCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 195/8552 | 355/18723 | 2.58e-04 | 1.58e-03 | 195 |
GO:000930617 | Esophagus | ESCC | protein secretion | 190/8552 | 359/18723 | 3.22e-03 | 1.34e-02 | 190 |
GO:003559217 | Esophagus | ESCC | establishment of protein localization to extracellular region | 190/8552 | 360/18723 | 3.77e-03 | 1.53e-02 | 190 |
GO:007169210 | Esophagus | ESCC | protein localization to extracellular region | 193/8552 | 368/18723 | 5.01e-03 | 1.92e-02 | 193 |
GO:000660520 | Oral cavity | OSCC | protein targeting | 204/7305 | 314/18723 | 6.78e-21 | 1.13e-18 | 204 |
GO:00715598 | Oral cavity | OSCC | response to transforming growth factor beta | 140/7305 | 256/18723 | 2.34e-07 | 3.70e-06 | 140 |
GO:00715608 | Oral cavity | OSCC | cellular response to transforming growth factor beta stimulus | 137/7305 | 250/18723 | 2.68e-07 | 4.15e-06 | 137 |
GO:00071798 | Oral cavity | OSCC | transforming growth factor beta receptor signaling pathway | 109/7305 | 198/18723 | 3.21e-06 | 3.86e-05 | 109 |
GO:000930610 | Oral cavity | OSCC | protein secretion | 169/7305 | 359/18723 | 1.04e-03 | 5.34e-03 | 169 |
GO:003559210 | Oral cavity | OSCC | establishment of protein localization to extracellular region | 169/7305 | 360/18723 | 1.21e-03 | 6.08e-03 | 169 |
GO:00716929 | Oral cavity | OSCC | protein localization to extracellular region | 172/7305 | 368/18723 | 1.40e-03 | 6.79e-03 | 172 |
GO:00071789 | Oral cavity | OSCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 165/7305 | 355/18723 | 2.31e-03 | 1.02e-02 | 165 |
GO:000660518 | Prostate | BPH | protein targeting | 102/3107 | 314/18723 | 2.51e-12 | 2.05e-10 | 102 |
GO:00715597 | Prostate | BPH | response to transforming growth factor beta | 76/3107 | 256/18723 | 1.14e-07 | 2.73e-06 | 76 |
GO:00715607 | Prostate | BPH | cellular response to transforming growth factor beta stimulus | 72/3107 | 250/18723 | 8.71e-07 | 1.61e-05 | 72 |
GO:00071797 | Prostate | BPH | transforming growth factor beta receptor signaling pathway | 57/3107 | 198/18723 | 1.17e-05 | 1.58e-04 | 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 |
LTBP2 | SNV | Missense_Mutation | rs778443565 | c.4160G>A | p.Arg1387His | p.R1387H | Q14767 | protein_coding | tolerated(0.06) | benign(0.009) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
LTBP2 | SNV | Missense_Mutation | rs144907368 | c.2714N>A | p.Arg905His | p.R905H | Q14767 | protein_coding | tolerated(0.15) | possibly_damaging(0.839) | TCGA-A2-A3KD-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | taxotere | SD |
LTBP2 | SNV | Missense_Mutation | novel | c.4382A>G | p.Glu1461Gly | p.E1461G | Q14767 | protein_coding | deleterious(0) | possibly_damaging(0.727) | TCGA-A8-A09A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
LTBP2 | SNV | Missense_Mutation | | c.2606N>C | p.Arg869Thr | p.R869T | Q14767 | protein_coding | tolerated(1) | benign(0.003) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
LTBP2 | SNV | Missense_Mutation | | c.1265N>T | p.Ser422Phe | p.S422F | Q14767 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
LTBP2 | SNV | Missense_Mutation | rs137854858 | c.1484N>A | p.Arg495Gln | p.R495Q | Q14767 | protein_coding | tolerated(0.37) | possibly_damaging(0.849) | TCGA-BH-A0BR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
LTBP2 | SNV | Missense_Mutation | | c.2105N>A | p.Gly702Asp | p.G702D | Q14767 | protein_coding | deleterious(0) | possibly_damaging(0.885) | TCGA-D8-A1XG-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
LTBP2 | SNV | Missense_Mutation | | c.3664N>C | p.Cys1222Arg | p.C1222R | Q14767 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D8-A1XK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine+cyclophosphamide | SD |
LTBP2 | SNV | Missense_Mutation | novel | c.3204N>A | p.Asn1068Lys | p.N1068K | Q14767 | protein_coding | deleterious(0) | possibly_damaging(0.735) | TCGA-PL-A8LZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
LTBP2 | insertion | In_Frame_Ins | novel | c.751_752insGCCTGTGCTCTGGATTTCTCTACAGCC | p.Ala251delinsGlyLeuCysSerGlyPheLeuTyrSerPro | p.A251delinsGLCSGFLYSP | Q14767 | protein_coding | | | TCGA-B6-A0I8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |