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 |
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:00468318 | Thyroid | PTC | regulation of RNA export from nucleus | 11/5968 | 12/18723 | 2.91e-05 | 2.82e-04 | 11 |
GO:00346615 | Thyroid | PTC | ncRNA catabolic process | 27/5968 | 43/18723 | 2.96e-05 | 2.85e-04 | 27 |
GO:00064066 | Thyroid | PTC | mRNA export from nucleus | 34/5968 | 59/18723 | 3.88e-05 | 3.57e-04 | 34 |
GO:00714276 | Thyroid | PTC | mRNA-containing ribonucleoprotein complex export from nucleus | 34/5968 | 59/18723 | 3.88e-05 | 3.57e-04 | 34 |
GO:00322395 | Thyroid | PTC | regulation of nucleobase-containing compound transport | 12/5968 | 15/18723 | 1.75e-04 | 1.33e-03 | 12 |
GO:20007367 | Thyroid | PTC | regulation of stem cell differentiation | 32/5968 | 58/18723 | 2.01e-04 | 1.50e-03 | 32 |
GO:00109486 | Thyroid | PTC | negative regulation of cell cycle process | 122/5968 | 294/18723 | 2.94e-04 | 2.08e-03 | 122 |
GO:00322594 | Thyroid | PTC | methylation | 146/5968 | 364/18723 | 4.99e-04 | 3.26e-03 | 146 |
GO:1902369110 | Thyroid | PTC | negative regulation of RNA catabolic process | 38/5968 | 75/18723 | 5.41e-04 | 3.47e-03 | 38 |
GO:19019885 | Thyroid | PTC | negative regulation of cell cycle phase transition | 104/5968 | 249/18723 | 6.01e-04 | 3.82e-03 | 104 |
GO:00434145 | Thyroid | PTC | macromolecule methylation | 127/5968 | 316/18723 | 1.02e-03 | 6.07e-03 | 127 |
GO:00000756 | Thyroid | PTC | cell cycle checkpoint | 72/5968 | 169/18723 | 2.09e-03 | 1.11e-02 | 72 |
GO:004886318 | Thyroid | PTC | stem cell differentiation | 85/5968 | 206/18723 | 2.71e-03 | 1.36e-02 | 85 |
GO:004348916 | Thyroid | PTC | RNA stabilization | 30/5968 | 65/18723 | 1.11e-02 | 4.42e-02 | 30 |
GO:003238632 | Thyroid | ATC | regulation of intracellular transport | 203/6293 | 337/18723 | 6.16e-24 | 1.85e-21 | 203 |
GO:000691326 | Thyroid | ATC | nucleocytoplasmic transport | 180/6293 | 301/18723 | 6.97e-21 | 1.30e-18 | 180 |
GO:005116926 | Thyroid | ATC | nuclear transport | 180/6293 | 301/18723 | 6.97e-21 | 1.30e-18 | 180 |
GO:000640326 | Thyroid | ATC | RNA localization | 132/6293 | 201/18723 | 1.13e-20 | 1.93e-18 | 132 |
GO:000640127 | Thyroid | ATC | RNA catabolic process | 165/6293 | 278/18723 | 8.45e-19 | 1.14e-16 | 165 |
GO:003447021 | Thyroid | ATC | ncRNA processing | 216/6293 | 395/18723 | 3.14e-18 | 3.98e-16 | 216 |
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 |
NSUN2 | SNV | Missense_Mutation | | c.1876N>A | p.Asp626Asn | p.D626N | Q08J23 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-A2-A0CR-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
NSUN2 | SNV | Missense_Mutation | rs745927756 | c.658N>T | p.Arg220Cys | p.R220C | Q08J23 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
NSUN2 | SNV | Missense_Mutation | novel | c.2117N>G | p.Val706Gly | p.V706G | Q08J23 | protein_coding | deleterious(0.01) | benign(0.141) | TCGA-AO-A1KP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | SD |
NSUN2 | SNV | Missense_Mutation | rs759251595 | c.2008N>T | p.Ala670Ser | p.A670S | Q08J23 | protein_coding | tolerated(0.76) | benign(0.02) | TCGA-E9-A2JS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cyclophosphamide | PD |
NSUN2 | insertion | Nonsense_Mutation | novel | c.1617_1618insTTTCATCTTATTTTTTTACTTACAGGTTATTAACACA | p.Asp540PhefsTer11 | p.D540Ffs*11 | Q08J23 | protein_coding | | | TCGA-AO-A0J5-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate | zoledronic | PD |
NSUN2 | deletion | Frame_Shift_Del | novel | c.403delN | p.Ile135SerfsTer2 | p.I135Sfs*2 | Q08J23 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
NSUN2 | SNV | Missense_Mutation | rs746142475 | c.2167G>A | p.Ala723Thr | p.A723T | Q08J23 | protein_coding | tolerated(0.19) | benign(0.003) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NSUN2 | SNV | Missense_Mutation | novel | c.259G>A | p.Ala87Thr | p.A87T | Q08J23 | protein_coding | deleterious(0.04) | possibly_damaging(0.616) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
NSUN2 | SNV | Missense_Mutation | | c.178N>A | p.Glu60Lys | p.E60K | Q08J23 | protein_coding | deleterious(0.01) | benign(0.091) | TCGA-C5-A1BQ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | CR |
NSUN2 | SNV | Missense_Mutation | novel | c.2001N>G | p.Asn667Lys | p.N667K | Q08J23 | protein_coding | tolerated(0.93) | benign(0) | TCGA-VS-A8EK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |