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/PER1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
Lung | ![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/Lung/PER1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
Prostate | ![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/Prostate/PER1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
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/PER1_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/PER1_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:000641727 | Esophagus | HGIN | regulation of translation | 139/2587 | 468/18723 | 1.46e-19 | 7.98e-17 | 139 |
GO:00182057 | Esophagus | HGIN | peptidyl-lysine modification | 88/2587 | 376/18723 | 2.99e-07 | 1.39e-05 | 88 |
GO:004312220 | Esophagus | HGIN | regulation of I-kappaB kinase/NF-kappaB signaling | 63/2587 | 249/18723 | 8.91e-07 | 3.61e-05 | 63 |
GO:000724918 | Esophagus | HGIN | I-kappaB kinase/NF-kappaB signaling | 67/2587 | 281/18723 | 3.84e-06 | 1.29e-04 | 67 |
GO:003052220 | Esophagus | HGIN | intracellular receptor signaling pathway | 62/2587 | 265/18723 | 1.63e-05 | 4.50e-04 | 62 |
GO:004854527 | Esophagus | HGIN | response to steroid hormone | 73/2587 | 339/18723 | 6.06e-05 | 1.40e-03 | 73 |
GO:00165708 | Esophagus | HGIN | histone modification | 92/2587 | 463/18723 | 1.70e-04 | 3.30e-03 | 92 |
GO:00064735 | Esophagus | HGIN | protein acetylation | 45/2587 | 201/18723 | 6.17e-04 | 8.58e-03 | 45 |
GO:000931418 | Esophagus | HGIN | response to radiation | 88/2587 | 456/18723 | 6.26e-04 | 8.65e-03 | 88 |
GO:003292210 | Esophagus | HGIN | circadian regulation of gene expression | 20/2587 | 68/18723 | 6.35e-04 | 8.73e-03 | 20 |
GO:00183945 | Esophagus | HGIN | peptidyl-lysine acetylation | 39/2587 | 169/18723 | 7.46e-04 | 9.90e-03 | 39 |
GO:003051818 | Esophagus | HGIN | intracellular steroid hormone receptor signaling pathway | 29/2587 | 116/18723 | 9.06e-04 | 1.15e-02 | 29 |
GO:00435435 | Esophagus | HGIN | protein acylation | 51/2587 | 243/18723 | 1.33e-03 | 1.57e-02 | 51 |
GO:00439675 | Esophagus | HGIN | histone H4 acetylation | 19/2587 | 67/18723 | 1.39e-03 | 1.63e-02 | 19 |
GO:007138320 | Esophagus | HGIN | cellular response to steroid hormone stimulus | 44/2587 | 204/18723 | 1.56e-03 | 1.79e-02 | 44 |
GO:000762318 | Esophagus | HGIN | circadian rhythm | 45/2587 | 210/18723 | 1.60e-03 | 1.79e-02 | 45 |
GO:00064755 | Esophagus | HGIN | internal protein amino acid acetylation | 36/2587 | 160/18723 | 1.87e-03 | 2.01e-02 | 36 |
GO:00183935 | Esophagus | HGIN | internal peptidyl-lysine acetylation | 35/2587 | 158/18723 | 2.82e-03 | 2.75e-02 | 35 |
GO:004340118 | Esophagus | HGIN | steroid hormone mediated signaling pathway | 31/2587 | 136/18723 | 3.01e-03 | 2.88e-02 | 31 |
GO:004340919 | Esophagus | HGIN | negative regulation of MAPK cascade | 38/2587 | 180/18723 | 4.58e-03 | 3.96e-02 | 38 |
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 |
PER1 | SNV | Missense_Mutation | | c.359N>T | p.Ser120Phe | p.S120F | O15534 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-A2-A0CX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PER1 | SNV | Missense_Mutation | | c.3206N>G | p.Ser1069Cys | p.S1069C | O15534 | protein_coding | tolerated(0.06) | possibly_damaging(0.88) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PER1 | SNV | Missense_Mutation | | c.1120N>C | p.Asp374His | p.D374H | O15534 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
PER1 | SNV | Missense_Mutation | novel | c.2927N>T | p.Ser976Leu | p.S976L | O15534 | protein_coding | deleterious(0) | possibly_damaging(0.606) | TCGA-AC-A3BB-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cytoxan | CR |
PER1 | SNV | Missense_Mutation | novel | c.1478N>C | p.Ile493Thr | p.I493T | O15534 | protein_coding | deleterious(0) | probably_damaging(0.921) | TCGA-AR-A0TT-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
PER1 | SNV | Missense_Mutation | novel | c.633G>T | p.Glu211Asp | p.E211D | O15534 | protein_coding | deleterious(0.01) | probably_damaging(0.952) | TCGA-B6-A3ZX-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | cyclophosphamide | PD |
PER1 | SNV | Missense_Mutation | | c.2852N>T | p.Ser951Leu | p.S951L | O15534 | protein_coding | tolerated(0.16) | benign(0.003) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PER1 | SNV | Missense_Mutation | | c.2570N>T | p.Ser857Leu | p.S857L | O15534 | protein_coding | tolerated(0.23) | benign(0) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PER1 | SNV | Missense_Mutation | | c.386N>T | p.Ser129Leu | p.S129L | O15534 | protein_coding | deleterious(0) | probably_damaging(0.942) | TCGA-C8-A26Y-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PER1 | SNV | Missense_Mutation | rs535351039 | c.1264C>T | p.His422Tyr | p.H422Y | O15534 | protein_coding | tolerated(0.62) | probably_damaging(0.968) | TCGA-D8-A1JF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |