Tissue | Expression Dynamics | Abbreviation |
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 |
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:000838026 | Esophagus | HGIN | RNA splicing | 160/2587 | 434/18723 | 3.74e-34 | 1.12e-30 | 160 |
GO:000037520 | Esophagus | HGIN | RNA splicing, via transesterification reactions | 115/2587 | 324/18723 | 3.16e-23 | 3.80e-20 | 115 |
GO:000037720 | Esophagus | HGIN | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
GO:000039820 | Esophagus | HGIN | mRNA splicing, via spliceosome | 113/2587 | 320/18723 | 1.24e-22 | 9.26e-20 | 113 |
GO:004348427 | Esophagus | HGIN | regulation of RNA splicing | 59/2587 | 148/18723 | 3.61e-15 | 7.22e-13 | 59 |
GO:190331120 | Esophagus | HGIN | regulation of mRNA metabolic process | 91/2587 | 288/18723 | 5.06e-15 | 9.78e-13 | 91 |
GO:005068419 | Esophagus | HGIN | regulation of mRNA processing | 55/2587 | 137/18723 | 2.17e-14 | 3.94e-12 | 55 |
GO:004802426 | Esophagus | HGIN | regulation of mRNA splicing, via spliceosome | 42/2587 | 101/18723 | 6.35e-12 | 7.78e-10 | 42 |
GO:000038018 | Esophagus | HGIN | alternative mRNA splicing, via spliceosome | 32/2587 | 77/18723 | 2.06e-09 | 1.54e-07 | 32 |
GO:000038118 | Esophagus | HGIN | regulation of alternative mRNA splicing, via spliceosome | 22/2587 | 60/18723 | 7.92e-06 | 2.40e-04 | 22 |
GO:000170118 | Esophagus | HGIN | in utero embryonic development | 77/2587 | 367/18723 | 9.56e-05 | 2.05e-03 | 77 |
GO:0008380111 | Esophagus | ESCC | RNA splicing | 336/8552 | 434/18723 | 1.74e-42 | 3.67e-39 | 336 |
GO:0000375111 | Esophagus | ESCC | RNA splicing, via transesterification reactions | 248/8552 | 324/18723 | 3.05e-30 | 1.49e-27 | 248 |
GO:0000377111 | Esophagus | ESCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:0000398111 | Esophagus | ESCC | mRNA splicing, via spliceosome | 244/8552 | 320/18723 | 2.52e-29 | 1.07e-26 | 244 |
GO:1903311110 | Esophagus | ESCC | regulation of mRNA metabolic process | 210/8552 | 288/18723 | 3.25e-21 | 5.56e-19 | 210 |
GO:0043484111 | Esophagus | ESCC | regulation of RNA splicing | 116/8552 | 148/18723 | 3.18e-16 | 2.38e-14 | 116 |
GO:0050684110 | Esophagus | ESCC | regulation of mRNA processing | 109/8552 | 137/18723 | 3.51e-16 | 2.59e-14 | 109 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:0048024111 | Esophagus | ESCC | regulation of mRNA splicing, via spliceosome | 78/8552 | 101/18723 | 8.72e-11 | 2.66e-09 | 78 |
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 |
NSRP1 | SNV | Missense_Mutation | novel | c.1028C>A | p.Ser343Tyr | p.S343Y | Q9H0G5 | protein_coding | tolerated(0.21) | benign(0.174) | TCGA-AX-A06F-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | SD |
NSRP1 | SNV | Missense_Mutation | | c.1377N>G | p.Asn459Lys | p.N459K | Q9H0G5 | protein_coding | tolerated(1) | benign(0) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NSRP1 | SNV | Missense_Mutation | rs201551307 | c.655A>C | p.Asn219His | p.N219H | Q9H0G5 | protein_coding | deleterious(0) | benign(0.084) | TCGA-AX-A1CP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
NSRP1 | SNV | Missense_Mutation | | c.507N>C | p.Glu169Asp | p.E169D | Q9H0G5 | protein_coding | deleterious(0.05) | probably_damaging(0.958) | TCGA-BG-A0LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NSRP1 | SNV | Missense_Mutation | | c.139N>G | p.Arg47Gly | p.R47G | Q9H0G5 | protein_coding | deleterious(0.01) | probably_damaging(0.94) | TCGA-BG-A0VW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NSRP1 | SNV | Missense_Mutation | rs758791206 | c.535G>T | p.Asp179Tyr | p.D179Y | Q9H0G5 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
NSRP1 | SNV | Missense_Mutation | | c.57G>C | p.Leu19Phe | p.L19F | Q9H0G5 | protein_coding | tolerated(0.06) | probably_damaging(0.915) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NSRP1 | SNV | Missense_Mutation | rs144072900 | c.607N>T | p.Arg203Cys | p.R203C | Q9H0G5 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
NSRP1 | SNV | Missense_Mutation | novel | c.42G>T | p.Lys14Asn | p.K14N | Q9H0G5 | protein_coding | deleterious(0.02) | probably_damaging(0.957) | TCGA-EO-A3AV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
NSRP1 | SNV | Missense_Mutation | novel | c.700C>A | p.Leu234Ile | p.L234I | Q9H0G5 | protein_coding | tolerated(0.08) | benign(0.023) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |