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:0042274111 | Esophagus | ESCC | ribosomal small subunit biogenesis | 67/8552 | 73/18723 | 6.62e-17 | 5.38e-15 | 67 |
GO:00304904 | Esophagus | ESCC | maturation of SSU-rRNA | 45/8552 | 50/18723 | 5.07e-11 | 1.63e-09 | 45 |
GO:00004623 | Esophagus | ESCC | maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 32/8552 | 37/18723 | 2.96e-07 | 4.23e-06 | 32 |
GO:00063602 | Esophagus | ESCC | transcription by RNA polymerase I | 42/8552 | 55/18723 | 3.41e-06 | 3.78e-05 | 42 |
GO:00063564 | Esophagus | ESCC | regulation of transcription by RNA polymerase I | 27/8552 | 34/18723 | 6.01e-05 | 4.62e-04 | 27 |
GO:00459432 | Esophagus | ESCC | positive regulation of transcription by RNA polymerase I | 19/8552 | 23/18723 | 3.12e-04 | 1.85e-03 | 19 |
GO:2000234 | Esophagus | ESCC | positive regulation of rRNA processing | 9/8552 | 10/18723 | 5.09e-03 | 1.92e-02 | 9 |
GO:002261322 | Liver | HCC | ribonucleoprotein complex biogenesis | 355/7958 | 463/18723 | 7.76e-52 | 4.92e-48 | 355 |
GO:004225422 | Liver | HCC | ribosome biogenesis | 246/7958 | 299/18723 | 4.99e-46 | 1.58e-42 | 246 |
GO:00344702 | Liver | HCC | ncRNA processing | 293/7958 | 395/18723 | 4.26e-38 | 6.76e-35 | 293 |
GO:001607212 | Liver | HCC | rRNA metabolic process | 193/7958 | 236/18723 | 1.26e-35 | 1.14e-32 | 193 |
GO:000636421 | Liver | HCC | rRNA processing | 185/7958 | 225/18723 | 8.14e-35 | 6.45e-32 | 185 |
GO:00346601 | Liver | HCC | ncRNA metabolic process | 332/7958 | 485/18723 | 1.48e-31 | 7.80e-29 | 332 |
GO:004227422 | Liver | HCC | ribosomal small subunit biogenesis | 65/7958 | 73/18723 | 1.09e-16 | 9.92e-15 | 65 |
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 |
HEATR1 | SNV | Missense_Mutation | novel | c.888N>T | p.Leu296Phe | p.L296F | Q9H583 | protein_coding | deleterious(0.01) | probably_damaging(0.986) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HEATR1 | SNV | Missense_Mutation | rs201522356 | c.5009C>T | p.Ala1670Val | p.A1670V | Q9H583 | protein_coding | deleterious(0) | probably_damaging(0.989) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HEATR1 | SNV | Missense_Mutation | novel | c.95A>G | p.Asp32Gly | p.D32G | Q9H583 | protein_coding | deleterious(0.01) | possibly_damaging(0.691) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HEATR1 | SNV | Missense_Mutation | novel | c.6013T>G | p.Phe2005Val | p.F2005V | Q9H583 | protein_coding | deleterious(0.01) | possibly_damaging(0.725) | TCGA-FI-A2D5-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | carboplatinum | PD |
HEATR1 | SNV | Missense_Mutation | | c.641N>T | p.Arg214Met | p.R214M | Q9H583 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-FI-A2D6-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HEATR1 | SNV | Missense_Mutation | novel | c.804T>G | p.Ile268Met | p.I268M | Q9H583 | protein_coding | tolerated(0.16) | benign(0.021) | TCGA-QF-A5YS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
HEATR1 | insertion | Frame_Shift_Ins | novel | c.2385dupA | p.Phe796IlefsTer9 | p.F796Ifs*9 | Q9H583 | protein_coding | | | TCGA-AX-A3FT-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HEATR1 | deletion | Frame_Shift_Del | novel | c.5937delN | p.Phe1979LeufsTer18 | p.F1979Lfs*18 | Q9H583 | protein_coding | | | TCGA-BG-A0LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HEATR1 | SNV | Missense_Mutation | novel | c.1105N>A | p.Gly369Arg | p.G369R | Q9H583 | protein_coding | tolerated(0.47) | benign(0.05) | TCGA-2Y-A9H3-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | PD |
HEATR1 | SNV | Missense_Mutation | | c.1992G>C | p.Met664Ile | p.M664I | Q9H583 | protein_coding | tolerated(0.12) | benign(0.003) | TCGA-FV-A2QR-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |