Tissue | Expression Dynamics | Abbreviation |
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 |
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:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
GO:0002181111 | Esophagus | ESCC | cytoplasmic translation | 135/8552 | 148/18723 | 4.17e-32 | 2.65e-29 | 135 |
GO:0000375111 | Esophagus | ESCC | RNA splicing, via transesterification reactions | 248/8552 | 324/18723 | 3.05e-30 | 1.49e-27 | 248 |
GO:0000377111 | Esophagus | ESCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0000398111 | Esophagus | ESCC | mRNA splicing, via spliceosome | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0016032111 | Esophagus | ESCC | viral process | 301/8552 | 415/18723 | 3.34e-29 | 1.32e-26 | 301 |
GO:0006403110 | Esophagus | ESCC | RNA localization | 166/8552 | 201/18723 | 1.95e-27 | 6.18e-25 | 166 |
GO:001657015 | Esophagus | ESCC | histone modification | 323/8552 | 463/18723 | 2.61e-26 | 7.88e-24 | 323 |
GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
GO:0009896111 | Esophagus | ESCC | positive regulation of catabolic process | 332/8552 | 492/18723 | 4.36e-23 | 9.22e-21 | 332 |
GO:0031331111 | Esophagus | ESCC | positive regulation of cellular catabolic process | 292/8552 | 427/18723 | 8.67e-22 | 1.53e-19 | 292 |
GO:1903311110 | Esophagus | ESCC | regulation of mRNA metabolic process | 210/8552 | 288/18723 | 3.25e-21 | 5.56e-19 | 210 |
GO:0006401110 | Esophagus | ESCC | RNA catabolic process | 204/8552 | 278/18723 | 3.39e-21 | 5.66e-19 | 204 |
GO:0019058111 | Esophagus | ESCC | viral life cycle | 226/8552 | 317/18723 | 1.17e-20 | 1.76e-18 | 226 |
GO:005123617 | Esophagus | ESCC | establishment of RNA localization | 134/8552 | 166/18723 | 1.23e-20 | 1.81e-18 | 134 |
GO:005102815 | Esophagus | ESCC | mRNA transport | 110/8552 | 130/18723 | 2.76e-20 | 3.80e-18 | 110 |
GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
GO:005065717 | Esophagus | ESCC | nucleic acid transport | 131/8552 | 163/18723 | 6.94e-20 | 8.46e-18 | 131 |
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 |
FMR1 | insertion | Frame_Shift_Ins | rs781892436 | c.1054_1055insA | p.His355ThrfsTer15 | p.H355Tfs*15 | Q06787 | protein_coding | | | TCGA-EO-A22S-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FMR1 | insertion | Frame_Shift_Ins | rs781892436 | c.1062dupA | p.His355ThrfsTer15 | p.H355Tfs*15 | Q06787 | protein_coding | | | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
FMR1 | SNV | Missense_Mutation | novel | c.796G>A | p.Gly266Arg | p.G266R | Q06787 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-2Y-A9GV-01 | Liver | liver hepatocellular carcinoma | Female | <65 | I/II | Targeted Molecular therapy | sorafenib | PD |
FMR1 | SNV | Missense_Mutation | novel | c.559A>T | p.Met187Leu | p.M187L | Q06787 | protein_coding | deleterious(0.03) | benign(0.106) | TCGA-DD-AAE3-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
FMR1 | deletion | Frame_Shift_Del | novel | c.858delN | p.Gln287LysfsTer6 | p.Q287Kfs*6 | Q06787 | protein_coding | | | TCGA-RC-A7SB-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
FMR1 | SNV | Missense_Mutation | novel | c.944N>T | p.Arg315Met | p.R315M | Q06787 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-05-4396-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
FMR1 | SNV | Missense_Mutation | novel | c.1031N>T | p.Arg344Met | p.R344M | Q06787 | protein_coding | tolerated_low_confidence(0.06) | possibly_damaging(0.898) | TCGA-05-4396-01 | Lung | lung adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD |
FMR1 | SNV | Missense_Mutation | | c.1811G>T | p.Arg604Leu | p.R604L | Q06787 | protein_coding | deleterious_low_confidence(0.01) | benign(0.235) | TCGA-50-6594-01 | Lung | lung adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
FMR1 | SNV | Missense_Mutation | novel | c.270N>T | p.Glu90Asp | p.E90D | Q06787 | protein_coding | tolerated(0.42) | benign(0.215) | TCGA-53-7626-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unspecific | Cisplatin | PD |
FMR1 | SNV | Missense_Mutation | | c.1667N>T | p.His556Leu | p.H556L | Q06787 | protein_coding | tolerated_low_confidence(0.29) | benign(0.03) | TCGA-53-7813-01 | Lung | lung adenocarcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |