Tissue | Expression Dynamics | Abbreviation |
Esophagus | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Esophagus/PES1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Liver | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Liver/PES1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
Oral Cavity | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/OralCavity/PES1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
Skin | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Skin/PES1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
Thyroid | ![The image shows the transcriptomic changes along malignancy continuum.log2FC in expression of this searched gene in stem-like cells from each diseased tissue sample relative to stem-like cells in normal samples in each tissue plotted against the malignancy continuum. Samples are colored based on if they are from different disease stage.](images/deg_images/Thyroid/PES1_pca_on_diff_genes.png) | 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:004227328 | Skin | cSCC | ribosomal large subunit biogenesis | 57/4864 | 72/18723 | 4.90e-21 | 8.53e-19 | 57 |
GO:000047022 | Skin | cSCC | maturation of LSU-rRNA | 22/4864 | 28/18723 | 8.75e-09 | 2.76e-07 | 22 |
GO:00004604 | Skin | cSCC | maturation of 5.8S rRNA | 25/4864 | 35/18723 | 2.34e-08 | 6.68e-07 | 25 |
GO:00004664 | Skin | cSCC | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 16/4864 | 24/18723 | 3.35e-05 | 3.66e-04 | 16 |
GO:00004635 | Skin | cSCC | maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 11/4864 | 15/18723 | 1.67e-04 | 1.45e-03 | 11 |
GO:0022613113 | Thyroid | PTC | ribonucleoprotein complex biogenesis | 292/5968 | 463/18723 | 3.24e-44 | 2.05e-40 | 292 |
GO:0042254113 | Thyroid | PTC | ribosome biogenesis | 202/5968 | 299/18723 | 3.47e-37 | 5.47e-34 | 202 |
GO:0006364112 | Thyroid | PTC | rRNA processing | 156/5968 | 225/18723 | 5.58e-31 | 5.03e-28 | 156 |
GO:0016072112 | Thyroid | PTC | rRNA metabolic process | 160/5968 | 236/18723 | 5.68e-30 | 3.58e-27 | 160 |
GO:003447018 | Thyroid | PTC | ncRNA processing | 215/5968 | 395/18723 | 7.14e-21 | 1.22e-18 | 215 |
GO:0042273113 | Thyroid | PTC | ribosomal large subunit biogenesis | 57/5968 | 72/18723 | 1.79e-16 | 1.51e-14 | 57 |
GO:00346608 | Thyroid | PTC | ncRNA metabolic process | 239/5968 | 485/18723 | 5.54e-16 | 4.26e-14 | 239 |
GO:00004709 | Thyroid | PTC | maturation of LSU-rRNA | 23/5968 | 28/18723 | 5.91e-08 | 1.25e-06 | 23 |
GO:00004605 | Thyroid | PTC | maturation of 5.8S rRNA | 24/5968 | 35/18723 | 9.08e-06 | 1.03e-04 | 24 |
GO:00004636 | Thyroid | PTC | maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 12/5968 | 15/18723 | 1.75e-04 | 1.33e-03 | 12 |
GO:00004665 | Thyroid | PTC | maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 15/5968 | 24/18723 | 1.95e-03 | 1.05e-02 | 15 |
GO:002261334 | Thyroid | ATC | ribonucleoprotein complex biogenesis | 292/6293 | 463/18723 | 3.05e-39 | 9.63e-36 | 292 |
GO:004225434 | Thyroid | ATC | ribosome biogenesis | 203/6293 | 299/18723 | 3.63e-34 | 4.59e-31 | 203 |
GO:000636432 | Thyroid | ATC | rRNA processing | 157/6293 | 225/18723 | 9.02e-29 | 5.70e-26 | 157 |
GO:001607232 | Thyroid | ATC | rRNA metabolic process | 161/6293 | 236/18723 | 1.02e-27 | 5.89e-25 | 161 |
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 |
PES1 | SNV | Missense_Mutation | rs774125501 | c.643G>A | p.Val215Met | p.V215M | O00541 | protein_coding | deleterious(0.03) | possibly_damaging(0.56) | TCGA-A2-A3XY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | PD |
PES1 | SNV | Missense_Mutation | | c.50N>G | p.Tyr17Cys | p.Y17C | O00541 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PES1 | SNV | Missense_Mutation | | c.1453G>A | p.Glu485Lys | p.E485K | O00541 | protein_coding | tolerated(0.48) | benign(0.021) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
PES1 | insertion | Nonsense_Mutation | novel | c.281_282insCTTTTAGTAGAGACTGGGTTTCCCCATGTTGGCCAGGCT | p.Lys94delinsAsnPheTerTerArgLeuGlyPheProMetLeuAlaArgLeu | p.K94delinsNF**RLGFPMLARL | O00541 | protein_coding | | | TCGA-A8-A094-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PES1 | insertion | Frame_Shift_Ins | novel | c.55_56insGAGTCAAAATAAGACTT | p.Thr19ArgfsTer17 | p.T19Rfs*17 | O00541 | protein_coding | | | TCGA-B6-A0I9-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
PES1 | deletion | Frame_Shift_Del | novel | c.480delG | p.Cys161AlafsTer170 | p.C161Afs*170 | O00541 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
PES1 | SNV | Missense_Mutation | rs781772847 | c.673N>A | p.Glu225Lys | p.E225K | O00541 | protein_coding | deleterious(0) | probably_damaging(0.976) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PES1 | SNV | Missense_Mutation | | c.1463N>T | p.Ser488Leu | p.S488L | O00541 | protein_coding | tolerated(0.2) | benign(0) | TCGA-Q1-A73O-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PES1 | SNV | Missense_Mutation | novel | c.1600N>A | p.Arg534Ser | p.R534S | O00541 | protein_coding | deleterious(0) | possibly_damaging(0.908) | TCGA-AA-3939-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
PES1 | SNV | Missense_Mutation | | c.1052G>A | p.Gly351Asp | p.G351D | O00541 | protein_coding | deleterious(0.03) | probably_damaging(0.992) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD |