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 |
Endometrium | | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid Cancer |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
GC | | CAG: Chronic atrophic gastritis |
CAG with IM: Chronic atrophic gastritis with intestinal metaplasia |
CSG: Chronic superficial gastritis |
GC: Gastric cancer |
SIM: Severe intestinal metaplasia |
WIM: Wild intestinal metaplasia |
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:0048024113 | Thyroid | PTC | regulation of mRNA splicing, via spliceosome | 71/5968 | 101/18723 | 2.39e-15 | 1.71e-13 | 71 |
GO:0000380111 | Thyroid | PTC | alternative mRNA splicing, via spliceosome | 51/5968 | 77/18723 | 6.09e-10 | 1.92e-08 | 51 |
GO:0048545113 | Thyroid | PTC | response to steroid hormone | 158/5968 | 339/18723 | 8.10e-09 | 2.00e-07 | 158 |
GO:003052228 | Thyroid | PTC | intracellular receptor signaling pathway | 126/5968 | 265/18723 | 6.31e-08 | 1.31e-06 | 126 |
GO:0034101113 | Thyroid | PTC | erythrocyte homeostasis | 69/5968 | 129/18723 | 2.85e-07 | 4.90e-06 | 69 |
GO:001635819 | Thyroid | PTC | dendrite development | 115/5968 | 243/18723 | 3.16e-07 | 5.35e-06 | 115 |
GO:0030518111 | Thyroid | PTC | intracellular steroid hormone receptor signaling pathway | 63/5968 | 116/18723 | 4.53e-07 | 7.41e-06 | 63 |
GO:0048872113 | Thyroid | PTC | homeostasis of number of cells | 125/5968 | 272/18723 | 7.25e-07 | 1.14e-05 | 125 |
GO:0071383112 | Thyroid | PTC | cellular response to steroid hormone stimulus | 98/5968 | 204/18723 | 9.83e-07 | 1.47e-05 | 98 |
GO:0002262113 | Thyroid | PTC | myeloid cell homeostasis | 79/5968 | 157/18723 | 1.11e-06 | 1.64e-05 | 79 |
GO:0000381111 | Thyroid | PTC | regulation of alternative mRNA splicing, via spliceosome | 37/5968 | 60/18723 | 1.93e-06 | 2.64e-05 | 37 |
GO:0030218113 | Thyroid | PTC | erythrocyte differentiation | 63/5968 | 120/18723 | 2.14e-06 | 2.89e-05 | 63 |
GO:004340124 | Thyroid | PTC | steroid hormone mediated signaling pathway | 69/5968 | 136/18723 | 3.57e-06 | 4.58e-05 | 69 |
GO:0030099113 | Thyroid | PTC | myeloid cell differentiation | 160/5968 | 381/18723 | 1.75e-05 | 1.82e-04 | 160 |
GO:00488139 | Thyroid | PTC | dendrite morphogenesis | 69/5968 | 146/18723 | 7.12e-05 | 6.19e-04 | 69 |
GO:0045646111 | Thyroid | PTC | regulation of erythrocyte differentiation | 26/5968 | 47/18723 | 7.38e-04 | 4.59e-03 | 26 |
GO:00305209 | Thyroid | PTC | intracellular estrogen receptor signaling pathway | 28/5968 | 54/18723 | 1.79e-03 | 9.68e-03 | 28 |
GO:000975519 | Thyroid | PTC | hormone-mediated signaling pathway | 80/5968 | 190/18723 | 1.84e-03 | 9.91e-03 | 80 |
GO:000838034 | Thyroid | ATC | RNA splicing | 270/6293 | 434/18723 | 7.50e-35 | 1.19e-31 | 270 |
GO:000037534 | Thyroid | ATC | RNA splicing, via transesterification reactions | 200/6293 | 324/18723 | 1.75e-25 | 7.39e-23 | 200 |
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 |
RBFOX2 | SNV | Missense_Mutation | | c.964A>G | p.Ser322Gly | p.S322G | O43251 | protein_coding | tolerated_low_confidence(0.31) | benign(0.015) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RBFOX2 | SNV | Missense_Mutation | novel | c.383N>C | p.Asn128Thr | p.N128T | O43251 | protein_coding | tolerated(0.93) | benign(0.019) | TCGA-D8-A1XG-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
RBFOX2 | SNV | Missense_Mutation | | c.434N>T | p.Ser145Leu | p.S145L | O43251 | protein_coding | deleterious(0.04) | benign(0.015) | TCGA-D8-A27G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RBFOX2 | SNV | Missense_Mutation | novel | c.383N>C | p.Asn128Thr | p.N128T | O43251 | protein_coding | tolerated(0.93) | benign(0.019) | TCGA-E9-A1RE-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
RBFOX2 | insertion | Frame_Shift_Ins | novel | c.547_548insTTTAT | p.Arg183LeufsTer29 | p.R183Lfs*29 | O43251 | protein_coding | | | TCGA-A8-A079-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RBFOX2 | insertion | Nonsense_Mutation | novel | c.546_547insGCATTACGATGATAGGATTGCAGATTAT | p.Arg183AlafsTer4 | p.R183Afs*4 | O43251 | protein_coding | | | TCGA-A8-A079-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RBFOX2 | SNV | Missense_Mutation | | c.1073G>A | p.Arg358Gln | p.R358Q | O43251 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
RBFOX2 | SNV | Missense_Mutation | novel | c.511N>C | p.Ser171Arg | p.S171R | O43251 | protein_coding | tolerated(0.3) | benign(0.147) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
RBFOX2 | SNV | Missense_Mutation | | c.1018N>A | p.Ala340Thr | p.A340T | O43251 | protein_coding | tolerated(0.06) | benign(0.154) | TCGA-AA-3877-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RBFOX2 | SNV | Missense_Mutation | novel | c.292N>T | p.Ile98Phe | p.I98F | O43251 | protein_coding | tolerated_low_confidence(0.09) | possibly_damaging(0.791) | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |