Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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 |
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:00083809 | Breast | Precancer | RNA splicing | 65/1080 | 434/18723 | 1.27e-12 | 2.53e-10 | 65 |
GO:00434849 | Breast | Precancer | regulation of RNA splicing | 34/1080 | 148/18723 | 2.66e-12 | 4.75e-10 | 34 |
GO:00003759 | Breast | Precancer | RNA splicing, via transesterification reactions | 52/1080 | 324/18723 | 1.74e-11 | 2.22e-09 | 52 |
GO:00003779 | Breast | Precancer | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
GO:00003989 | Breast | Precancer | mRNA splicing, via spliceosome | 51/1080 | 320/18723 | 3.55e-11 | 4.04e-09 | 51 |
GO:00480249 | Breast | Precancer | regulation of mRNA splicing, via spliceosome | 22/1080 | 101/18723 | 5.29e-08 | 3.18e-06 | 22 |
GO:19033118 | Breast | Precancer | regulation of mRNA metabolic process | 38/1080 | 288/18723 | 1.63e-06 | 5.97e-05 | 38 |
GO:00506848 | Breast | Precancer | regulation of mRNA processing | 23/1080 | 137/18723 | 3.49e-06 | 1.13e-04 | 23 |
GO:00003808 | Breast | Precancer | alternative mRNA splicing, via spliceosome | 15/1080 | 77/18723 | 2.86e-05 | 6.37e-04 | 15 |
GO:00003818 | Breast | Precancer | regulation of alternative mRNA splicing, via spliceosome | 13/1080 | 60/18723 | 2.98e-05 | 6.58e-04 | 13 |
GO:000838014 | Breast | IDC | RNA splicing | 73/1434 | 434/18723 | 1.27e-10 | 1.57e-08 | 73 |
GO:004348414 | Breast | IDC | regulation of RNA splicing | 36/1434 | 148/18723 | 3.32e-10 | 3.77e-08 | 36 |
GO:000037514 | Breast | IDC | RNA splicing, via transesterification reactions | 58/1434 | 324/18723 | 9.44e-10 | 9.58e-08 | 58 |
GO:000037714 | Breast | IDC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 57/1434 | 320/18723 | 1.60e-09 | 1.49e-07 | 57 |
GO:000039814 | Breast | IDC | mRNA splicing, via spliceosome | 57/1434 | 320/18723 | 1.60e-09 | 1.49e-07 | 57 |
GO:004802414 | Breast | IDC | regulation of mRNA splicing, via spliceosome | 23/1434 | 101/18723 | 1.74e-06 | 7.28e-05 | 23 |
GO:005068413 | Breast | IDC | regulation of mRNA processing | 24/1434 | 137/18723 | 1.09e-04 | 2.04e-03 | 24 |
GO:190331113 | Breast | IDC | regulation of mRNA metabolic process | 40/1434 | 288/18723 | 1.79e-04 | 3.01e-03 | 40 |
GO:000038113 | Breast | IDC | regulation of alternative mRNA splicing, via spliceosome | 13/1434 | 60/18723 | 5.09e-04 | 6.65e-03 | 13 |
GO:000038013 | Breast | IDC | alternative mRNA splicing, via spliceosome | 15/1434 | 77/18723 | 6.51e-04 | 8.04e-03 | 15 |
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 |
WTAP | SNV | Missense_Mutation | | c.307N>T | p.Pro103Ser | p.P103S | Q15007 | protein_coding | deleterious(0.04) | possibly_damaging(0.844) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | novel | c.227N>C | p.Leu76Pro | p.L76P | Q15007 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
WTAP | SNV | Missense_Mutation | | c.355N>G | p.Leu119Val | p.L119V | Q15007 | protein_coding | tolerated(0.16) | benign(0.015) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | novel | c.962N>T | p.Thr321Ile | p.T321I | Q15007 | protein_coding | tolerated_low_confidence(0.12) | possibly_damaging(0.571) | TCGA-DF-A2KN-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | | c.476N>T | p.Ala159Val | p.A159V | Q15007 | protein_coding | deleterious(0.03) | benign(0.019) | TCGA-EO-A22U-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | | c.485G>C | p.Arg162Pro | p.R162P | Q15007 | protein_coding | deleterious(0) | possibly_damaging(0.899) | TCGA-EO-A22Y-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | novel | c.23N>A | p.Pro8His | p.P8H | Q15007 | protein_coding | deleterious(0) | possibly_damaging(0.847) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | | c.485N>C | p.Arg162Pro | p.R162P | Q15007 | protein_coding | deleterious(0) | possibly_damaging(0.899) | TCGA-EY-A548-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | novel | c.623T>C | p.Ile208Thr | p.I208T | Q15007 | protein_coding | deleterious(0) | probably_damaging(0.985) | TCGA-DD-AAEA-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
WTAP | SNV | Missense_Mutation | | c.98N>G | p.Tyr33Cys | p.Y33C | Q15007 | protein_coding | tolerated(0.13) | possibly_damaging(0.724) | TCGA-MI-A75I-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |