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 |
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:00003757 | Liver | NAFLD | RNA splicing, via transesterification reactions | 51/1882 | 324/18723 | 8.28e-04 | 1.02e-02 | 51 |
GO:000838012 | Liver | Cirrhotic | RNA splicing | 229/4634 | 434/18723 | 9.13e-37 | 2.86e-33 | 229 |
GO:000037512 | Liver | Cirrhotic | RNA splicing, via transesterification reactions | 175/4634 | 324/18723 | 5.95e-30 | 7.47e-27 | 175 |
GO:000037712 | Liver | Cirrhotic | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:000039812 | Liver | Cirrhotic | mRNA splicing, via spliceosome | 172/4634 | 320/18723 | 4.02e-29 | 3.60e-26 | 172 |
GO:190331111 | Liver | Cirrhotic | regulation of mRNA metabolic process | 140/4634 | 288/18723 | 1.07e-18 | 1.91e-16 | 140 |
GO:005068411 | Liver | Cirrhotic | regulation of mRNA processing | 81/4634 | 137/18723 | 1.05e-17 | 1.60e-15 | 81 |
GO:004348412 | Liver | Cirrhotic | regulation of RNA splicing | 85/4634 | 148/18723 | 2.03e-17 | 2.83e-15 | 85 |
GO:004802412 | Liver | Cirrhotic | regulation of mRNA splicing, via spliceosome | 62/4634 | 101/18723 | 5.83e-15 | 6.20e-13 | 62 |
GO:000038011 | Liver | Cirrhotic | alternative mRNA splicing, via spliceosome | 43/4634 | 77/18723 | 5.31e-09 | 2.10e-07 | 43 |
GO:000038111 | Liver | Cirrhotic | regulation of alternative mRNA splicing, via spliceosome | 31/4634 | 60/18723 | 6.48e-06 | 1.02e-04 | 31 |
GO:000838022 | Liver | HCC | RNA splicing | 313/7958 | 434/18723 | 1.36e-36 | 1.73e-33 | 313 |
GO:000037522 | Liver | HCC | RNA splicing, via transesterification reactions | 228/7958 | 324/18723 | 1.47e-24 | 4.06e-22 | 228 |
GO:000037722 | Liver | HCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:000039822 | Liver | HCC | mRNA splicing, via spliceosome | 224/7958 | 320/18723 | 1.16e-23 | 2.62e-21 | 224 |
GO:190331121 | Liver | HCC | regulation of mRNA metabolic process | 205/7958 | 288/18723 | 3.38e-23 | 6.90e-21 | 205 |
GO:004348422 | Liver | HCC | regulation of RNA splicing | 113/7958 | 148/18723 | 4.32e-17 | 4.15e-15 | 113 |
GO:005068421 | Liver | HCC | regulation of mRNA processing | 106/7958 | 137/18723 | 7.64e-17 | 7.12e-15 | 106 |
GO:004802422 | Liver | HCC | regulation of mRNA splicing, via spliceosome | 74/7958 | 101/18723 | 3.29e-10 | 1.10e-08 | 74 |
GO:000038021 | Liver | HCC | alternative mRNA splicing, via spliceosome | 52/7958 | 77/18723 | 7.87e-06 | 9.27e-05 | 52 |
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 |
HNRNPL | SNV | Missense_Mutation | | c.1540N>A | p.Glu514Lys | p.E514K | P14866 | protein_coding | deleterious(0.03) | benign(0.033) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
HNRNPL | SNV | Missense_Mutation | novel | c.502N>A | p.Pro168Thr | p.P168T | P14866 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-A7-A3RF-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | PD |
HNRNPL | SNV | Missense_Mutation | | c.1391N>T | p.Ser464Leu | p.S464L | P14866 | protein_coding | tolerated(0.51) | benign(0.059) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
HNRNPL | SNV | Missense_Mutation | novel | c.1560N>G | p.Ile520Met | p.I520M | P14866 | protein_coding | tolerated(0.23) | benign(0.001) | TCGA-AC-A3W5-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | docetaxel | CR |
HNRNPL | insertion | Frame_Shift_Ins | novel | c.850_851insCCTTAGAAACCAGCAGTGGCTCCTTTGAGAGTCTGGTGAGGGT | p.Asp284AlafsTer26 | p.D284Afs*26 | P14866 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
HNRNPL | insertion | Frame_Shift_Ins | novel | c.1284_1285insAG | p.Gly429ArgfsTer5 | p.G429Rfs*5 | P14866 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HNRNPL | insertion | In_Frame_Ins | novel | c.1283_1284insGGGCCCAATTTCACAAGAACCGCATTGGCG | p.Asp428delinsGluGlyProIleSerGlnGluProHisTrpArg | p.D428delinsEGPISQEPHWR | P14866 | protein_coding | | | TCGA-AN-A04C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HNRNPL | SNV | Missense_Mutation | | c.1021N>A | p.Glu341Lys | p.E341K | P14866 | protein_coding | tolerated(0.56) | benign(0.018) | TCGA-C5-A1MI-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
HNRNPL | SNV | Missense_Mutation | | c.719N>T | p.Ser240Leu | p.S240L | P14866 | protein_coding | tolerated(0.09) | benign(0.057) | TCGA-MY-A5BD-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
HNRNPL | SNV | Missense_Mutation | | c.796N>A | p.Glu266Lys | p.E266K | P14866 | protein_coding | deleterious(0.02) | benign(0.017) | TCGA-AA-3715-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |