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 |
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:0022613111 | Esophagus | ESCC | ribonucleoprotein complex biogenesis | 365/8552 | 463/18723 | 1.74e-49 | 1.11e-45 | 365 |
GO:0042254111 | Esophagus | ESCC | ribosome biogenesis | 252/8552 | 299/18723 | 3.27e-44 | 1.04e-40 | 252 |
GO:003447015 | Esophagus | ESCC | ncRNA processing | 300/8552 | 395/18723 | 3.09e-35 | 3.26e-32 | 300 |
GO:0016072110 | Esophagus | ESCC | rRNA metabolic process | 197/8552 | 236/18723 | 1.31e-33 | 1.18e-30 | 197 |
GO:0006364110 | Esophagus | ESCC | rRNA processing | 189/8552 | 225/18723 | 4.88e-33 | 3.87e-30 | 189 |
GO:003466012 | Esophagus | ESCC | ncRNA metabolic process | 346/8552 | 485/18723 | 4.35e-31 | 2.51e-28 | 346 |
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:0042273111 | Esophagus | ESCC | ribosomal large subunit biogenesis | 65/8552 | 72/18723 | 1.53e-15 | 9.82e-14 | 65 |
GO:0042255111 | Esophagus | ESCC | ribosome assembly | 50/8552 | 61/18723 | 5.66e-09 | 1.17e-07 | 50 |
GO:0000027111 | Esophagus | ESCC | ribosomal large subunit assembly | 22/8552 | 27/18723 | 1.49e-04 | 9.92e-04 | 22 |
GO:002261312 | Liver | Cirrhotic | ribonucleoprotein complex biogenesis | 231/4634 | 463/18723 | 3.28e-32 | 6.86e-29 | 231 |
GO:004225412 | Liver | Cirrhotic | ribosome biogenesis | 154/4634 | 299/18723 | 1.18e-23 | 6.72e-21 | 154 |
GO:000636412 | Liver | Cirrhotic | rRNA processing | 115/4634 | 225/18723 | 1.12e-17 | 1.64e-15 | 115 |
GO:00160724 | Liver | Cirrhotic | rRNA metabolic process | 119/4634 | 236/18723 | 1.19e-17 | 1.70e-15 | 119 |
GO:007182612 | Liver | Cirrhotic | ribonucleoprotein complex subunit organization | 115/4634 | 227/18723 | 2.67e-17 | 3.63e-15 | 115 |
GO:002261812 | Liver | Cirrhotic | ribonucleoprotein complex assembly | 112/4634 | 220/18723 | 4.35e-17 | 5.81e-15 | 112 |
GO:004227312 | Liver | Cirrhotic | ribosomal large subunit biogenesis | 47/4634 | 72/18723 | 4.20e-13 | 3.29e-11 | 47 |
GO:00344701 | Liver | Cirrhotic | ncRNA processing | 158/4634 | 395/18723 | 1.09e-11 | 6.96e-10 | 158 |
GO:004225512 | Liver | Cirrhotic | ribosome assembly | 39/4634 | 61/18723 | 1.07e-10 | 5.72e-09 | 39 |
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 |
BRIX1 | SNV | Missense_Mutation | | c.7N>A | p.Ala3Thr | p.A3T | Q8TDN6 | protein_coding | deleterious_low_confidence(0.01) | possibly_damaging(0.637) | TCGA-A5-A0VP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | | c.910N>A | p.Ala304Thr | p.A304T | Q8TDN6 | protein_coding | tolerated(0.38) | benign(0.087) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | novel | c.939G>T | p.Glu313Asp | p.E313D | Q8TDN6 | protein_coding | deleterious(0.01) | benign(0.411) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | rs374761203 | c.287N>A | p.Arg96His | p.R96H | Q8TDN6 | protein_coding | deleterious(0.03) | benign(0.236) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | rs752419046 | c.211N>C | p.Asn71His | p.N71H | Q8TDN6 | protein_coding | deleterious(0) | benign(0.222) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | novel | c.641G>T | p.Arg214Met | p.R214M | Q8TDN6 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
BRIX1 | SNV | Missense_Mutation | novel | c.932C>T | p.Ala311Val | p.A311V | Q8TDN6 | protein_coding | tolerated(0.12) | benign(0.033) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | | c.547N>A | p.Glu183Lys | p.E183K | Q8TDN6 | protein_coding | deleterious(0.03) | possibly_damaging(0.775) | TCGA-B5-A11N-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | novel | c.484N>C | p.Ser162Pro | p.S162P | Q8TDN6 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
BRIX1 | SNV | Missense_Mutation | rs752419046 | c.211N>C | p.Asn71His | p.N71H | Q8TDN6 | protein_coding | deleterious(0) | benign(0.222) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |