Tissue | Expression Dynamics | Abbreviation |
Esophagus | | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
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:0071826111 | Esophagus | ESCC | ribonucleoprotein complex subunit organization | 166/8552 | 227/18723 | 2.94e-17 | 2.42e-15 | 166 |
GO:0022618111 | Esophagus | ESCC | ribonucleoprotein complex assembly | 159/8552 | 220/18723 | 8.19e-16 | 5.71e-14 | 159 |
GO:000170119 | Esophagus | ESCC | in utero embryonic development | 243/8552 | 367/18723 | 1.00e-15 | 6.86e-14 | 243 |
GO:000182412 | Esophagus | ESCC | blastocyst development | 73/8552 | 106/18723 | 1.13e-06 | 1.40e-05 | 73 |
GO:00062891 | Esophagus | ESCC | nucleotide-excision repair | 42/8552 | 60/18723 | 1.18e-04 | 8.14e-04 | 42 |
GO:00215436 | Esophagus | ESCC | pallium development | 94/8552 | 169/18723 | 5.79e-03 | 2.14e-02 | 94 |
GO:002261320 | Oral cavity | OSCC | ribonucleoprotein complex biogenesis | 333/7305 | 463/18723 | 8.28e-48 | 5.24e-44 | 333 |
GO:000838020 | Oral cavity | OSCC | RNA splicing | 308/7305 | 434/18723 | 2.43e-42 | 7.70e-39 | 308 |
GO:000037519 | Oral cavity | OSCC | RNA splicing, via transesterification reactions | 225/7305 | 324/18723 | 5.20e-29 | 2.99e-26 | 225 |
GO:000037719 | Oral cavity | OSCC | RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
GO:000039819 | Oral cavity | OSCC | mRNA splicing, via spliceosome | 221/7305 | 320/18723 | 5.50e-28 | 2.18e-25 | 221 |
GO:007182620 | Oral cavity | OSCC | ribonucleoprotein complex subunit organization | 152/7305 | 227/18723 | 1.05e-17 | 1.01e-15 | 152 |
GO:002261820 | Oral cavity | OSCC | ribonucleoprotein complex assembly | 146/7305 | 220/18723 | 1.53e-16 | 1.23e-14 | 146 |
GO:000170116 | Oral cavity | OSCC | in utero embryonic development | 207/7305 | 367/18723 | 7.92e-12 | 2.95e-10 | 207 |
GO:00018243 | Oral cavity | OSCC | blastocyst development | 66/7305 | 106/18723 | 1.04e-06 | 1.40e-05 | 66 |
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 |
XAB2 | SNV | Missense_Mutation | rs763601327 | c.385N>C | p.Thr129Pro | p.T129P | Q9HCS7 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-A7-A26E-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | cytoxan | SD |
XAB2 | SNV | Missense_Mutation | rs763601327 | c.385A>C | p.Thr129Pro | p.T129P | Q9HCS7 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-AR-A1AY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unspecific | Doxorubicin | SD |
XAB2 | SNV | Missense_Mutation | | c.1550N>G | p.Thr517Arg | p.T517R | Q9HCS7 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-BH-A0DZ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | docetaxel | SD |
XAB2 | SNV | Missense_Mutation | rs745761079 | c.412N>T | p.Arg138Trp | p.R138W | Q9HCS7 | protein_coding | deleterious(0) | probably_damaging(0.932) | TCGA-D8-A1JA-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | PD |
XAB2 | SNV | Missense_Mutation | | c.2222T>C | p.Met741Thr | p.M741T | Q9HCS7 | protein_coding | tolerated(0.2) | benign(0.015) | TCGA-E2-A1IH-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | aromasin | SD |
XAB2 | SNV | Missense_Mutation | rs191550276 | c.623N>A | p.Arg208His | p.R208H | Q9HCS7 | protein_coding | tolerated(0.2) | benign(0.001) | TCGA-E2-A1L9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
XAB2 | SNV | Missense_Mutation | rs763601327 | c.385N>C | p.Thr129Pro | p.T129P | Q9HCS7 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-EW-A1OY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
XAB2 | SNV | Missense_Mutation | rs763601327 | c.385N>C | p.Thr129Pro | p.T129P | Q9HCS7 | protein_coding | deleterious(0) | possibly_damaging(0.757) | TCGA-EW-A1PB-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
XAB2 | SNV | Missense_Mutation | rs770164799 | c.2096N>T | p.Thr699Met | p.T699M | Q9HCS7 | protein_coding | deleterious(0.01) | benign(0.018) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
XAB2 | SNV | Missense_Mutation | novel | c.1493N>A | p.Gly498Asp | p.G498D | Q9HCS7 | protein_coding | deleterious(0) | probably_damaging(0.98) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |