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:003410120 | Oral cavity | OSCC | erythrocyte homeostasis | 81/7305 | 129/18723 | 3.75e-08 | 7.06e-07 | 81 |
GO:003021820 | Oral cavity | OSCC | erythrocyte differentiation | 74/7305 | 120/18723 | 4.09e-07 | 6.06e-06 | 74 |
GO:000038016 | Oral cavity | OSCC | alternative mRNA splicing, via spliceosome | 51/7305 | 77/18723 | 1.19e-06 | 1.59e-05 | 51 |
GO:007138318 | Oral cavity | OSCC | cellular response to steroid hormone stimulus | 112/7305 | 204/18723 | 2.82e-06 | 3.47e-05 | 112 |
GO:004340116 | Oral cavity | OSCC | steroid hormone mediated signaling pathway | 76/7305 | 136/18723 | 4.76e-05 | 3.99e-04 | 76 |
GO:190370618 | Oral cavity | OSCC | regulation of hemopoiesis | 180/7305 | 367/18723 | 5.16e-05 | 4.30e-04 | 180 |
GO:000038116 | Oral cavity | OSCC | regulation of alternative mRNA splicing, via spliceosome | 38/7305 | 60/18723 | 1.17e-04 | 8.46e-04 | 38 |
GO:004564617 | Oral cavity | OSCC | regulation of erythrocyte differentiation | 31/7305 | 47/18723 | 1.66e-04 | 1.14e-03 | 31 |
GO:003051816 | Oral cavity | OSCC | intracellular steroid hormone receptor signaling pathway | 64/7305 | 116/18723 | 2.96e-04 | 1.86e-03 | 64 |
GO:004563720 | Oral cavity | OSCC | regulation of myeloid cell differentiation | 106/7305 | 210/18723 | 4.58e-04 | 2.76e-03 | 106 |
GO:00305206 | Oral cavity | OSCC | intracellular estrogen receptor signaling pathway | 33/7305 | 54/18723 | 8.25e-04 | 4.38e-03 | 33 |
GO:001635810 | Oral cavity | OSCC | dendrite development | 113/7305 | 243/18723 | 1.00e-02 | 3.49e-02 | 113 |
GO:0008380110 | Oral cavity | LP | RNA splicing | 237/4623 | 434/18723 | 1.82e-41 | 3.79e-38 | 237 |
GO:0000375110 | Oral cavity | LP | RNA splicing, via transesterification reactions | 181/4623 | 324/18723 | 1.36e-33 | 1.70e-30 | 181 |
GO:0000377110 | Oral cavity | LP | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 179/4623 | 320/18723 | 2.48e-33 | 2.22e-30 | 179 |
GO:0000398110 | Oral cavity | LP | mRNA splicing, via spliceosome | 179/4623 | 320/18723 | 2.48e-33 | 2.22e-30 | 179 |
GO:0043484110 | Oral cavity | LP | regulation of RNA splicing | 81/4623 | 148/18723 | 4.34e-15 | 5.79e-13 | 81 |
GO:005068418 | Oral cavity | LP | regulation of mRNA processing | 76/4623 | 137/18723 | 1.14e-14 | 1.35e-12 | 76 |
GO:190331119 | Oral cavity | LP | regulation of mRNA metabolic process | 129/4623 | 288/18723 | 5.70e-14 | 6.10e-12 | 129 |
GO:0048024110 | Oral cavity | LP | regulation of mRNA splicing, via spliceosome | 57/4623 | 101/18723 | 9.06e-12 | 6.84e-10 | 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 |
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 |