Tissue | Expression Dynamics | Abbreviation |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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: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:000838013 | Lung | AIS | RNA splicing | 68/1849 | 434/18723 | 8.50e-05 | 2.11e-03 | 68 |
GO:000037713 | Lung | AIS | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 49/1849 | 320/18723 | 1.30e-03 | 1.63e-02 | 49 |
GO:000039813 | Lung | AIS | mRNA splicing, via spliceosome | 49/1849 | 320/18723 | 1.30e-03 | 1.63e-02 | 49 |
GO:000037513 | Lung | AIS | RNA splicing, via transesterification reactions | 49/1849 | 324/18723 | 1.69e-03 | 1.93e-02 | 49 |
GO:0008380113 | Thyroid | PTC | RNA splicing | 273/5968 | 434/18723 | 4.44e-41 | 1.40e-37 | 273 |
GO:0000375113 | Thyroid | PTC | RNA splicing, via transesterification reactions | 202/5968 | 324/18723 | 6.81e-30 | 3.91e-27 | 202 |
GO:0000377113 | Thyroid | PTC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 199/5968 | 320/18723 | 2.96e-29 | 1.44e-26 | 199 |
GO:0000398113 | Thyroid | PTC | mRNA splicing, via spliceosome | 199/5968 | 320/18723 | 2.96e-29 | 1.44e-26 | 199 |
GO:000838034 | Thyroid | ATC | RNA splicing | 270/6293 | 434/18723 | 7.50e-35 | 1.19e-31 | 270 |
GO:000037534 | Thyroid | ATC | RNA splicing, via transesterification reactions | 200/6293 | 324/18723 | 1.75e-25 | 7.39e-23 | 200 |
GO:000037734 | Thyroid | ATC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 197/6293 | 320/18723 | 6.54e-25 | 2.18e-22 | 197 |
GO:000039834 | Thyroid | ATC | mRNA splicing, via spliceosome | 197/6293 | 320/18723 | 6.54e-25 | 2.18e-22 | 197 |
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 |
RNPC3 | SNV | Missense_Mutation | | c.285N>T | p.Leu95Phe | p.L95F | Q96LT9 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RNPC3 | SNV | Missense_Mutation | | c.151N>C | p.Gly51Arg | p.G51R | Q96LT9 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-AO-A124-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RNPC3 | SNV | Missense_Mutation | novel | c.1406N>G | p.Ala469Gly | p.A469G | Q96LT9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AR-A5QQ-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | carboplatin | PD |
RNPC3 | SNV | Missense_Mutation | novel | c.374T>C | p.Val125Ala | p.V125A | Q96LT9 | protein_coding | tolerated(0.34) | benign(0.014) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
RNPC3 | SNV | Missense_Mutation | rs753288069 | c.1030N>A | p.Glu344Lys | p.E344K | Q96LT9 | protein_coding | tolerated(0.22) | benign(0.045) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
RNPC3 | SNV | Missense_Mutation | novel | c.10C>T | p.Pro4Ser | p.P4S | Q96LT9 | protein_coding | deleterious_low_confidence(0) | benign(0.003) | TCGA-AA-A00N-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
RNPC3 | SNV | Missense_Mutation | novel | c.1478N>A | p.Gly493Glu | p.G493E | Q96LT9 | protein_coding | tolerated(0.42) | benign(0.076) | TCGA-AM-5820-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RNPC3 | SNV | Missense_Mutation | | c.1004N>G | p.Lys335Arg | p.K335R | Q96LT9 | protein_coding | tolerated(0.47) | benign(0) | TCGA-AG-A026-01 | Colorectum | rectum adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
RNPC3 | SNV | Missense_Mutation | novel | c.539N>A | p.Pro180His | p.P180H | Q96LT9 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RNPC3 | SNV | Missense_Mutation | novel | c.1547N>T | p.Lys516Met | p.K516M | Q96LT9 | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.956) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |