Tissue | Expression Dynamics | Abbreviation |
Breast | | IDC: Invasive ductal carcinoma |
DCIS: Ductal carcinoma in situ |
Precancer(BRCA1-mut): Precancerous lesion from BRCA1 mutation carriers |
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:19908301 | Breast | IDC | cellular response to leukemia inhibitory factor | 15/1434 | 94/18723 | 5.06e-03 | 3.79e-02 | 15 |
GO:199082311 | Breast | IDC | response to leukemia inhibitory factor | 15/1434 | 95/18723 | 5.59e-03 | 4.07e-02 | 15 |
GO:000838024 | Breast | DCIS | RNA splicing | 73/1390 | 434/18723 | 3.05e-11 | 5.08e-09 | 73 |
GO:004348424 | Breast | DCIS | regulation of RNA splicing | 36/1390 | 148/18723 | 1.40e-10 | 1.69e-08 | 36 |
GO:000037524 | Breast | DCIS | RNA splicing, via transesterification reactions | 58/1390 | 324/18723 | 2.89e-10 | 3.34e-08 | 58 |
GO:000037724 | Breast | DCIS | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 57/1390 | 320/18723 | 5.01e-10 | 5.35e-08 | 57 |
GO:000039824 | Breast | DCIS | mRNA splicing, via spliceosome | 57/1390 | 320/18723 | 5.01e-10 | 5.35e-08 | 57 |
GO:004802424 | Breast | DCIS | regulation of mRNA splicing, via spliceosome | 23/1390 | 101/18723 | 1.02e-06 | 4.04e-05 | 23 |
GO:005068423 | Breast | DCIS | regulation of mRNA processing | 24/1390 | 137/18723 | 6.71e-05 | 1.33e-03 | 24 |
GO:190331123 | Breast | DCIS | regulation of mRNA metabolic process | 40/1390 | 288/18723 | 9.26e-05 | 1.71e-03 | 40 |
GO:000640322 | Breast | DCIS | RNA localization | 27/1390 | 201/18723 | 1.97e-03 | 1.84e-02 | 27 |
GO:19908302 | Breast | DCIS | cellular response to leukemia inhibitory factor | 15/1390 | 94/18723 | 3.79e-03 | 3.03e-02 | 15 |
GO:19908232 | Breast | DCIS | response to leukemia inhibitory factor | 15/1390 | 95/18723 | 4.20e-03 | 3.31e-02 | 15 |
GO:00069139 | Cervix | CC | nucleocytoplasmic transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
GO:00511699 | Cervix | CC | nuclear transport | 71/2311 | 301/18723 | 4.04e-08 | 2.54e-06 | 71 |
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:00511689 | Cervix | CC | nuclear export | 38/2311 | 154/18723 | 1.86e-05 | 3.46e-04 | 38 |
GO:004802410 | Cervix | CC | regulation of mRNA splicing, via spliceosome | 28/2311 | 101/18723 | 2.41e-05 | 4.19e-04 | 28 |
GO:00512368 | Cervix | CC | establishment of RNA localization | 39/2311 | 166/18723 | 4.76e-05 | 7.25e-04 | 39 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501416 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa030408 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
hsa0501417 | Breast | Precancer | Amyotrophic lateral sclerosis | 98/684 | 364/8465 | 2.13e-28 | 8.41e-27 | 6.44e-27 | 98 |
hsa0304013 | Breast | Precancer | Spliceosome | 39/684 | 217/8465 | 1.44e-06 | 2.27e-05 | 1.74e-05 | 39 |
hsa0501423 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0304023 | Breast | IDC | Spliceosome | 40/867 | 217/8465 | 1.53e-04 | 1.42e-03 | 1.06e-03 | 40 |
hsa0501433 | Breast | IDC | Amyotrophic lateral sclerosis | 102/867 | 364/8465 | 1.29e-22 | 5.22e-21 | 3.91e-21 | 102 |
hsa0304033 | Breast | IDC | Spliceosome | 40/867 | 217/8465 | 1.53e-04 | 1.42e-03 | 1.06e-03 | 40 |
hsa0501443 | Breast | DCIS | Amyotrophic lateral sclerosis | 101/846 | 364/8465 | 7.14e-23 | 2.88e-21 | 2.12e-21 | 101 |
hsa0304043 | Breast | DCIS | Spliceosome | 40/846 | 217/8465 | 8.97e-05 | 8.52e-04 | 6.28e-04 | 40 |
hsa0501453 | Breast | DCIS | Amyotrophic lateral sclerosis | 101/846 | 364/8465 | 7.14e-23 | 2.88e-21 | 2.12e-21 | 101 |
hsa0304053 | Breast | DCIS | Spliceosome | 40/846 | 217/8465 | 8.97e-05 | 8.52e-04 | 6.28e-04 | 40 |
hsa0501418 | Cervix | CC | Amyotrophic lateral sclerosis | 103/1267 | 364/8465 | 1.79e-11 | 4.47e-10 | 2.64e-10 | 103 |
hsa0501419 | Cervix | CC | Amyotrophic lateral sclerosis | 103/1267 | 364/8465 | 1.79e-11 | 4.47e-10 | 2.64e-10 | 103 |
hsa0501444 | Cervix | N_HPV | Amyotrophic lateral sclerosis | 41/349 | 364/8465 | 3.11e-09 | 1.06e-07 | 8.26e-08 | 41 |
hsa0501454 | Cervix | N_HPV | Amyotrophic lateral sclerosis | 41/349 | 364/8465 | 3.11e-09 | 1.06e-07 | 8.26e-08 | 41 |
hsa05014 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa03040 | Colorectum | AD | Spliceosome | 73/2092 | 217/8465 | 1.73e-03 | 9.68e-03 | 6.18e-03 | 73 |
hsa050141 | Colorectum | AD | Amyotrophic lateral sclerosis | 164/2092 | 364/8465 | 4.28e-18 | 1.27e-16 | 8.09e-17 | 164 |
hsa030401 | Colorectum | AD | Spliceosome | 73/2092 | 217/8465 | 1.73e-03 | 9.68e-03 | 6.18e-03 | 73 |
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 |
SRSF3 | SNV | Missense_Mutation | | c.313C>T | p.Arg105Cys | p.R105C | P84103 | protein_coding | deleterious(0) | possibly_damaging(0.586) | TCGA-GM-A2D9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
SRSF3 | insertion | Frame_Shift_Ins | novel | c.268_269insCT | p.Arg90ProfsTer104 | p.R90Pfs*104 | P84103 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SRSF3 | insertion | Frame_Shift_Ins | novel | c.269_270insGAGTGCAATGGCACAATCT | p.Gly91SerfsTer19 | p.G91Sfs*19 | P84103 | protein_coding | | | TCGA-A8-A07J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR |
SRSF3 | SNV | Missense_Mutation | novel | c.404N>A | p.Arg135Lys | p.R135K | P84103 | protein_coding | deleterious_low_confidence(0.02) | benign(0.267) | TCGA-C5-A8ZZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unspecific | Cisplatin | SD |
SRSF3 | SNV | Missense_Mutation | novel | c.160N>C | p.Glu54Gln | p.E54Q | P84103 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-DS-A1OB-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | carboplatin | PD |
SRSF3 | SNV | Missense_Mutation | | c.257N>T | p.Arg86Ile | p.R86I | P84103 | protein_coding | deleterious(0) | probably_damaging(0.944) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
SRSF3 | SNV | Missense_Mutation | novel | c.68A>T | p.Lys23Met | p.K23M | P84103 | protein_coding | deleterious(0.01) | possibly_damaging(0.824) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
SRSF3 | SNV | Missense_Mutation | novel | c.446N>A | p.Arg149Gln | p.R149Q | P84103 | protein_coding | tolerated_low_confidence(0.29) | possibly_damaging(0.614) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
SRSF3 | SNV | Missense_Mutation | | c.304N>T | p.Asp102Tyr | p.D102Y | P84103 | protein_coding | deleterious(0.02) | possibly_damaging(0.675) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SRSF3 | SNV | Missense_Mutation | | c.76T>G | p.Leu26Val | p.L26V | P84103 | protein_coding | deleterious(0.03) | probably_damaging(0.953) | TCGA-AP-A054-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | PD |