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 |
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:004348410 | Cervix | CC | regulation of RNA splicing | 42/2311 | 148/18723 | 1.25e-07 | 6.24e-06 | 42 |
GO:19033119 | Cervix | CC | regulation of mRNA metabolic process | 64/2311 | 288/18723 | 1.71e-06 | 5.64e-05 | 64 |
GO:003311910 | Cervix | CC | negative regulation of RNA splicing | 13/2311 | 25/18723 | 1.83e-06 | 5.89e-05 | 13 |
GO:004802410 | Cervix | CC | regulation of mRNA splicing, via spliceosome | 28/2311 | 101/18723 | 2.41e-05 | 4.19e-04 | 28 |
GO:00506849 | Cervix | CC | regulation of mRNA processing | 33/2311 | 137/18723 | 1.06e-04 | 1.35e-03 | 33 |
GO:00434349 | Cervix | CC | response to peptide hormone | 77/2311 | 414/18723 | 1.40e-04 | 1.70e-03 | 77 |
GO:190331210 | Cervix | CC | negative regulation of mRNA metabolic process | 24/2311 | 92/18723 | 2.49e-04 | 2.77e-03 | 24 |
GO:000838010 | Cervix | CC | RNA splicing | 76/2311 | 434/18723 | 9.79e-04 | 8.19e-03 | 76 |
GO:00328688 | Cervix | CC | response to insulin | 50/2311 | 264/18723 | 1.28e-03 | 1.02e-02 | 50 |
GO:00480256 | Cervix | CC | negative regulation of mRNA splicing, via spliceosome | 8/2311 | 20/18723 | 1.69e-03 | 1.29e-02 | 8 |
GO:00506866 | Cervix | CC | negative regulation of mRNA processing | 9/2311 | 29/18723 | 6.49e-03 | 3.61e-02 | 9 |
GO:000037710 | Cervix | CC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 55/2311 | 320/18723 | 6.71e-03 | 3.70e-02 | 55 |
GO:000039810 | Cervix | CC | mRNA splicing, via spliceosome | 55/2311 | 320/18723 | 6.71e-03 | 3.70e-02 | 55 |
GO:000037510 | Cervix | CC | RNA splicing, via transesterification reactions | 55/2311 | 324/18723 | 8.61e-03 | 4.44e-02 | 55 |
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 |
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 |
SRSF4 | SNV | Missense_Mutation | | c.1015N>A | p.Gly339Ser | p.G339S | Q08170 | protein_coding | deleterious_low_confidence(0.03) | benign(0.01) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
SRSF4 | SNV | Missense_Mutation | novel | c.22C>A | p.Arg8Ser | p.R8S | Q08170 | protein_coding | deleterious(0.01) | probably_damaging(0.947) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
SRSF4 | SNV | Missense_Mutation | | c.460N>G | p.Lys154Glu | p.K154E | Q08170 | protein_coding | tolerated(0.13) | possibly_damaging(0.549) | TCGA-AR-A0TT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
SRSF4 | SNV | Missense_Mutation | novel | c.620G>C | p.Arg207Pro | p.R207P | Q08170 | protein_coding | deleterious(0.03) | probably_damaging(0.995) | TCGA-JL-A3YW-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SRSF4 | insertion | In_Frame_Ins | novel | c.1279_1280insTGCTAA | p.Gly427delinsValLeuSer | p.G427delinsVLS | Q08170 | protein_coding | | | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SRSF4 | insertion | Frame_Shift_Ins | novel | c.1238_1239insCCCCGTCTCTACTGAAAATACAAAAATTAGCCAGGCAT | p.Lys413AsnfsTer114 | p.K413Nfs*114 | Q08170 | protein_coding | | | TCGA-AO-A0JB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | SD |
SRSF4 | SNV | Missense_Mutation | novel | c.71N>T | p.Gly24Val | p.G24V | Q08170 | protein_coding | deleterious(0.01) | probably_damaging(0.914) | TCGA-VS-A94Z-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SRSF4 | SNV | Missense_Mutation | rs201863361 | c.1133G>A | p.Arg378Lys | p.R378K | Q08170 | protein_coding | tolerated_low_confidence(0.81) | benign(0) | TCGA-VS-A958-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SRSF4 | SNV | Missense_Mutation | novel | c.961N>G | p.Arg321Gly | p.R321G | Q08170 | protein_coding | deleterious_low_confidence(0) | benign(0.051) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
SRSF4 | SNV | Missense_Mutation | | c.1409N>A | p.Ser470Tyr | p.S470Y | Q08170 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.996) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |