Tissue | Expression Dynamics | Abbreviation |
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/RER1_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/RER1_pca_on_diff_genes.png) | AD: Adenomas |
SER: Sessile serrated lesions |
MSI-H: Microsatellite-high colorectal cancer |
MSS: Microsatellite stable colorectal cancer |
Endometrium | ![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/Endometrium/RER1_pca_on_diff_genes.png) | AEH: Atypical endometrial hyperplasia |
EEC: Endometrioid 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/RER1_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/RER1_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/RER1_pca_on_diff_genes.png) | EOLP: Erosive Oral lichen planus |
LP: leukoplakia |
NEOLP: Non-erosive oral lichen planus |
OSCC: Oral squamous cell carcinoma |
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/RER1_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/RER1_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/RER1_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:00991738 | Thyroid | PTC | postsynapse organization | 77/5968 | 168/18723 | 1.01e-04 | 8.25e-04 | 77 |
GO:1904377111 | Thyroid | PTC | positive regulation of protein localization to cell periphery | 37/5968 | 69/18723 | 1.46e-04 | 1.13e-03 | 37 |
GO:1903078110 | Thyroid | PTC | positive regulation of protein localization to plasma membrane | 32/5968 | 62/18723 | 9.64e-04 | 5.77e-03 | 32 |
GO:00508089 | Thyroid | PTC | synapse organization | 161/5968 | 426/18723 | 5.11e-03 | 2.36e-02 | 161 |
GO:00354378 | Thyroid | PTC | maintenance of protein localization in endoplasmic reticulum | 9/5968 | 14/18723 | 1.27e-02 | 4.92e-02 | 9 |
GO:0048193111 | Thyroid | ATC | Golgi vesicle transport | 189/6293 | 296/18723 | 9.58e-27 | 5.05e-24 | 189 |
GO:1903829210 | Thyroid | ATC | positive regulation of cellular protein localization | 167/6293 | 276/18723 | 3.32e-20 | 5.38e-18 | 167 |
GO:007265928 | Thyroid | ATC | protein localization to plasma membrane | 161/6293 | 284/18723 | 8.45e-16 | 6.52e-14 | 161 |
GO:199077826 | Thyroid | ATC | protein localization to cell periphery | 181/6293 | 333/18723 | 3.72e-15 | 2.56e-13 | 181 |
GO:004518532 | Thyroid | ATC | maintenance of protein location | 64/6293 | 94/18723 | 8.44e-12 | 3.16e-10 | 64 |
GO:007097232 | Thyroid | ATC | protein localization to endoplasmic reticulum | 53/6293 | 74/18723 | 2.52e-11 | 8.69e-10 | 53 |
GO:003250732 | Thyroid | ATC | maintenance of protein location in cell | 47/6293 | 65/18723 | 1.98e-10 | 5.86e-09 | 47 |
GO:007259532 | Thyroid | ATC | maintenance of protein localization in organelle | 33/6293 | 42/18723 | 2.92e-09 | 6.88e-08 | 33 |
GO:190437526 | Thyroid | ATC | regulation of protein localization to cell periphery | 74/6293 | 125/18723 | 3.78e-09 | 8.66e-08 | 74 |
GO:1905475111 | Thyroid | ATC | regulation of protein localization to membrane | 96/6293 | 175/18723 | 5.55e-09 | 1.22e-07 | 96 |
GO:0006890110 | Thyroid | ATC | retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum | 37/6293 | 52/18723 | 3.45e-08 | 6.43e-07 | 37 |
GO:190307627 | Thyroid | ATC | regulation of protein localization to plasma membrane | 61/6293 | 104/18723 | 1.38e-07 | 2.26e-06 | 61 |
GO:005123532 | Thyroid | ATC | maintenance of location | 152/6293 | 327/18723 | 7.84e-07 | 1.04e-05 | 152 |
GO:005165133 | Thyroid | ATC | maintenance of location in cell | 105/6293 | 214/18723 | 1.92e-06 | 2.31e-05 | 105 |
GO:1905477111 | Thyroid | ATC | positive regulation of protein localization to membrane | 58/6293 | 106/18723 | 6.14e-06 | 6.42e-05 | 58 |
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 |
RER1 | SNV | Missense_Mutation | novel | c.58A>G | p.Arg20Gly | p.R20G | O15258 | protein_coding | deleterious(0.04) | benign(0.122) | TCGA-AC-A23C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | chemo | CR |
RER1 | insertion | Nonsense_Mutation | novel | c.359_360insCTG | p.Lys120delinsAsnTer | p.K120delinsN* | O15258 | protein_coding | | | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RER1 | insertion | Frame_Shift_Ins | novel | c.361_362insGGTTGCTCTGCCTTACAGATGACGGTCC | p.Phe121TrpfsTer60 | p.F121Wfs*60 | O15258 | protein_coding | | | TCGA-AN-A0FJ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RER1 | deletion | Frame_Shift_Del | novel | c.348_349delNN | p.Pro117ArgfsTer3 | p.P117Rfs*3 | O15258 | protein_coding | | | TCGA-D8-A147-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicine | SD |
RER1 | SNV | Missense_Mutation | novel | c.464T>C | p.Ile155Thr | p.I155T | O15258 | protein_coding | deleterious(0) | probably_damaging(0.915) | TCGA-CK-5913-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | rs746542852 | c.47C>T | p.Ser16Leu | p.S16L | O15258 | protein_coding | tolerated(0.2) | probably_damaging(0.915) | TCGA-G4-6304-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Chemotherapy | fluorouracil | PD |
RER1 | SNV | Missense_Mutation | novel | c.434N>C | p.Val145Ala | p.V145A | O15258 | protein_coding | deleterious(0) | probably_damaging(0.984) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | novel | c.520T>C | p.Tyr174His | p.Y174H | O15258 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | rs567205815 | c.583G>A | p.Ala195Thr | p.A195T | O15258 | protein_coding | tolerated(0.15) | benign(0.001) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
RER1 | SNV | Missense_Mutation | | c.418G>A | p.Ala140Thr | p.A140T | O15258 | protein_coding | deleterious(0.05) | benign(0.196) | TCGA-AP-A051-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |