Tissue | Expression Dynamics | Abbreviation |
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 |
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 |
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:0008380 | Colorectum | AD | RNA splicing | 169/3918 | 434/18723 | 3.59e-18 | 2.04e-15 | 169 |
GO:0000377 | Colorectum | AD | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 130/3918 | 320/18723 | 5.88e-16 | 2.16e-13 | 130 |
GO:0000398 | Colorectum | AD | mRNA splicing, via spliceosome | 130/3918 | 320/18723 | 5.88e-16 | 2.16e-13 | 130 |
GO:0000375 | Colorectum | AD | RNA splicing, via transesterification reactions | 131/3918 | 324/18723 | 7.11e-16 | 2.22e-13 | 131 |
GO:1903311 | Colorectum | AD | regulation of mRNA metabolic process | 117/3918 | 288/18723 | 1.69e-14 | 4.23e-12 | 117 |
GO:0043484 | Colorectum | AD | regulation of RNA splicing | 70/3918 | 148/18723 | 6.47e-13 | 1.16e-10 | 70 |
GO:0048024 | Colorectum | AD | regulation of mRNA splicing, via spliceosome | 50/3918 | 101/18723 | 1.62e-10 | 1.56e-08 | 50 |
GO:0050684 | Colorectum | AD | regulation of mRNA processing | 61/3918 | 137/18723 | 4.23e-10 | 3.58e-08 | 61 |
GO:0000910 | Colorectum | AD | cytokinesis | 59/3918 | 173/18723 | 3.74e-05 | 6.75e-04 | 59 |
GO:0061640 | Colorectum | AD | cytoskeleton-dependent cytokinesis | 37/3918 | 100/18723 | 1.58e-04 | 2.20e-03 | 37 |
GO:0000281 | Colorectum | AD | mitotic cytokinesis | 25/3918 | 71/18723 | 3.77e-03 | 2.65e-02 | 25 |
GO:00083802 | Colorectum | MSS | RNA splicing | 159/3467 | 434/18723 | 1.75e-19 | 1.22e-16 | 159 |
GO:19033112 | Colorectum | MSS | regulation of mRNA metabolic process | 115/3467 | 288/18723 | 1.23e-17 | 6.41e-15 | 115 |
GO:00003772 | Colorectum | MSS | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 121/3467 | 320/18723 | 2.52e-16 | 8.27e-14 | 121 |
GO:00003982 | Colorectum | MSS | mRNA splicing, via spliceosome | 121/3467 | 320/18723 | 2.52e-16 | 8.27e-14 | 121 |
GO:00003752 | Colorectum | MSS | RNA splicing, via transesterification reactions | 122/3467 | 324/18723 | 2.75e-16 | 8.58e-14 | 122 |
GO:00434842 | Colorectum | MSS | regulation of RNA splicing | 66/3467 | 148/18723 | 2.44e-13 | 5.25e-11 | 66 |
GO:00506842 | Colorectum | MSS | regulation of mRNA processing | 57/3467 | 137/18723 | 2.88e-10 | 2.68e-08 | 57 |
GO:00480242 | Colorectum | MSS | regulation of mRNA splicing, via spliceosome | 46/3467 | 101/18723 | 4.20e-10 | 3.49e-08 | 46 |
GO:00009102 | Colorectum | MSS | cytokinesis | 49/3467 | 173/18723 | 1.02e-03 | 1.02e-02 | 49 |
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 |
SON | SNV | Missense_Mutation | novel | c.220N>C | p.Asp74His | p.D74H | P18583 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.999) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
SON | SNV | Missense_Mutation | | c.7184A>G | p.Asp2395Gly | p.D2395G | P18583 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.972) | TCGA-A7-A0CE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
SON | SNV | Missense_Mutation | | c.2183C>A | p.Ser728Tyr | p.S728Y | P18583 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.993) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
SON | SNV | Missense_Mutation | novel | c.1003N>A | p.Glu335Lys | p.E335K | P18583 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.704) | TCGA-AC-A8OS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SON | SNV | Missense_Mutation | | c.496N>A | p.Ala166Thr | p.A166T | P18583 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.843) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SON | SNV | Missense_Mutation | rs200910529 | c.5510N>A | p.Arg1837His | p.R1837H | P18583 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.948) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SON | SNV | Missense_Mutation | | c.5519C>T | p.Thr1840Ile | p.T1840I | P18583 | protein_coding | deleterious_low_confidence(0) | possibly_damaging(0.86) | TCGA-BH-A0HF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SON | SNV | Missense_Mutation | | c.5680N>C | p.Ser1894Pro | p.S1894P | P18583 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-BH-A18V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SON | SNV | Missense_Mutation | | c.2268N>T | p.Leu756Phe | p.L756F | P18583 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.994) | TCGA-C8-A12U-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SON | SNV | Missense_Mutation | | c.1169N>G | p.Ser390Cys | p.S390C | P18583 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.963) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |