Tissue | Expression Dynamics | Abbreviation |
Cervix | ![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/Cervix/REPS1_pca_on_diff_genes.png) | CC: Cervix cancer |
HSIL_HPV: HPV-infected high-grade squamous intraepithelial lesions |
N_HPV: HPV-infected normal cervix |
Colorectum (GSE201348) | ![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/Colorectum/Becker/REPS1_pca_on_diff_genes.png) | FAP: Familial adenomatous polyposis |
CRC: Colorectal cancer |
Colorectum (HTA11) | ![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/Colorectum/Chen/REPS1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
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/REPS1_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/REPS1_pca_on_diff_genes.png) | AAH: Atypical adenomatous hyperplasia |
AIS: Adenocarcinoma in situ |
IAC: Invasive lung adenocarcinoma |
MIA: Minimally invasive adenocarcinoma |
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/REPS1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/REPS1_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:00068987 | Cervix | CC | receptor-mediated endocytosis | 53/2311 | 244/18723 | 2.52e-05 | 4.29e-04 | 53 |
GO:00161977 | Cervix | CC | endosomal transport | 48/2311 | 230/18723 | 1.65e-04 | 1.97e-03 | 48 |
GO:0016197 | Colorectum | AD | endosomal transport | 90/3918 | 230/18723 | 1.88e-10 | 1.73e-08 | 90 |
GO:0006898 | Colorectum | AD | receptor-mediated endocytosis | 76/3918 | 244/18723 | 1.07e-04 | 1.59e-03 | 76 |
GO:00161972 | Colorectum | MSS | endosomal transport | 79/3467 | 230/18723 | 7.04e-09 | 4.39e-07 | 79 |
GO:00068981 | Colorectum | MSS | receptor-mediated endocytosis | 69/3467 | 244/18723 | 1.18e-04 | 1.82e-03 | 69 |
GO:00068982 | Colorectum | FAP | receptor-mediated endocytosis | 62/2622 | 244/18723 | 1.47e-06 | 6.39e-05 | 62 |
GO:00161973 | Colorectum | FAP | endosomal transport | 56/2622 | 230/18723 | 1.79e-05 | 4.53e-04 | 56 |
GO:00161974 | Colorectum | CRC | endosomal transport | 49/2078 | 230/18723 | 5.07e-06 | 2.05e-04 | 49 |
GO:00068983 | Colorectum | CRC | receptor-mediated endocytosis | 50/2078 | 244/18723 | 1.27e-05 | 4.08e-04 | 50 |
GO:001619715 | Esophagus | ESCC | endosomal transport | 168/8552 | 230/18723 | 2.28e-17 | 1.93e-15 | 168 |
GO:000689818 | Esophagus | ESCC | receptor-mediated endocytosis | 142/8552 | 244/18723 | 5.22e-05 | 4.05e-04 | 142 |
GO:00068985 | Lung | IAC | receptor-mediated endocytosis | 50/2061 | 244/18723 | 1.01e-05 | 3.23e-04 | 50 |
GO:00161976 | Lung | IAC | endosomal transport | 43/2061 | 230/18723 | 3.53e-04 | 5.50e-03 | 43 |
GO:000689812 | Lung | AIS | receptor-mediated endocytosis | 50/1849 | 244/18723 | 4.47e-07 | 3.52e-05 | 50 |
GO:001619712 | Lung | AIS | endosomal transport | 38/1849 | 230/18723 | 1.08e-03 | 1.41e-02 | 38 |
GO:000689822 | Lung | MIAC | receptor-mediated endocytosis | 25/967 | 244/18723 | 8.78e-04 | 1.88e-02 | 25 |
GO:00161979 | Oral cavity | OSCC | endosomal transport | 141/7305 | 230/18723 | 5.40e-12 | 2.06e-10 | 141 |
GO:000689810 | Oral cavity | OSCC | receptor-mediated endocytosis | 125/7305 | 244/18723 | 6.56e-05 | 5.32e-04 | 125 |
GO:000689825 | Oral cavity | EOLP | receptor-mediated endocytosis | 55/2218 | 244/18723 | 1.64e-06 | 3.82e-05 | 55 |
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 |
REPS1 | SNV | Missense_Mutation | rs746519188 | c.806N>A | p.Arg269His | p.R269H | Q96D71 | protein_coding | deleterious(0.03) | possibly_damaging(0.844) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
REPS1 | SNV | Missense_Mutation | | c.2000N>A | p.Ser667Tyr | p.S667Y | Q96D71 | protein_coding | tolerated_low_confidence(0.11) | possibly_damaging(0.459) | TCGA-EY-A1GD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
REPS1 | SNV | Missense_Mutation | novel | c.847G>A | p.Asp283Asn | p.D283N | Q96D71 | protein_coding | deleterious(0.01) | possibly_damaging(0.515) | TCGA-FI-A2D0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
REPS1 | insertion | Frame_Shift_Ins | novel | c.809_810insCAATACTCTGAATGAAGCAAATAAAAAT | p.Arg270SerfsTer14 | p.R270Sfs*14 | Q96D71 | protein_coding | | | TCGA-B5-A11Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
REPS1 | insertion | Frame_Shift_Ins | novel | c.779_780insTAAAATCT | p.Ser261LysfsTer24 | p.S261Kfs*24 | Q96D71 | protein_coding | | | TCGA-D1-A0ZP-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
REPS1 | deletion | Frame_Shift_Del | novel | c.422delN | p.Lys141ArgfsTer4 | p.K141Rfs*4 | Q96D71 | protein_coding | | | TCGA-D1-A101-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
REPS1 | SNV | Missense_Mutation | | c.1817A>G | p.Asp606Gly | p.D606G | Q96D71 | protein_coding | tolerated(0.42) | benign(0.272) | TCGA-DD-AACA-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | I/II | Unknown | Unknown | PD |
REPS1 | SNV | Missense_Mutation | novel | c.1553N>G | p.Ser518Cys | p.S518C | Q96D71 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-LG-A9QD-01 | Liver | liver hepatocellular carcinoma | Male | >=65 | III/IV | Targeted Molecular therapy | sorafenib | SD |
REPS1 | SNV | Missense_Mutation | | c.758A>G | p.Gln253Arg | p.Q253R | Q96D71 | protein_coding | tolerated(0.51) | benign(0.001) | TCGA-MI-A75G-01 | Liver | liver hepatocellular carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
REPS1 | SNV | Missense_Mutation | | c.1955A>T | p.His652Leu | p.H652L | Q96D71 | protein_coding | tolerated(0.17) | benign(0.343) | TCGA-86-A4JF-01 | Lung | lung adenocarcinoma | Male | <65 | I/II | Chemotherapy | unknown | PD |