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/RIN1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/RIN1_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/RIN1_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/RIN1_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:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:2000116 | Colorectum | AD | regulation of cysteine-type endopeptidase activity | 79/3918 | 235/18723 | 3.74e-06 | 1.03e-04 | 79 |
GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
GO:0010952 | Colorectum | AD | positive regulation of peptidase activity | 68/3918 | 197/18723 | 6.30e-06 | 1.59e-04 | 68 |
GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
GO:0010950 | Colorectum | AD | positive regulation of endopeptidase activity | 59/3918 | 179/18723 | 1.11e-04 | 1.65e-03 | 59 |
GO:0009410 | Colorectum | AD | response to xenobiotic stimulus | 128/3918 | 462/18723 | 2.69e-04 | 3.31e-03 | 128 |
GO:0072593 | Colorectum | AD | reactive oxygen species metabolic process | 73/3918 | 239/18723 | 2.79e-04 | 3.42e-03 | 73 |
GO:2000379 | Colorectum | AD | positive regulation of reactive oxygen species metabolic process | 29/3918 | 76/18723 | 4.31e-04 | 4.82e-03 | 29 |
GO:2001056 | Colorectum | AD | positive regulation of cysteine-type endopeptidase activity | 47/3918 | 148/18723 | 1.30e-03 | 1.14e-02 | 47 |
GO:2000377 | Colorectum | AD | regulation of reactive oxygen species metabolic process | 48/3918 | 157/18723 | 2.77e-03 | 2.09e-02 | 48 |
GO:0097305 | Colorectum | AD | response to alcohol | 71/3918 | 253/18723 | 4.01e-03 | 2.80e-02 | 71 |
GO:00226042 | Colorectum | MSS | regulation of cell morphogenesis | 103/3467 | 309/18723 | 2.70e-10 | 2.56e-08 | 103 |
GO:00064172 | Colorectum | MSS | regulation of translation | 134/3467 | 468/18723 | 4.43e-08 | 2.38e-06 | 134 |
GO:01060272 | Colorectum | MSS | neuron projection organization | 34/3467 | 93/18723 | 3.04e-05 | 6.14e-04 | 34 |
GO:00313462 | Colorectum | MSS | positive regulation of cell projection organization | 96/3467 | 353/18723 | 3.44e-05 | 6.70e-04 | 96 |
GO:00107692 | Colorectum | MSS | regulation of cell morphogenesis involved in differentiation | 34/3467 | 96/18723 | 6.43e-05 | 1.12e-03 | 34 |
GO:00109752 | Colorectum | MSS | regulation of neuron projection development | 115/3467 | 445/18723 | 6.91e-05 | 1.20e-03 | 115 |
GO:00107702 | Colorectum | MSS | positive regulation of cell morphogenesis involved in differentiation | 29/3467 | 79/18723 | 1.04e-04 | 1.63e-03 | 29 |
GO:00107202 | Colorectum | MSS | positive regulation of cell development | 81/3467 | 298/18723 | 1.38e-04 | 2.06e-03 | 81 |
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 |
RIN1 | SNV | Missense_Mutation | novel | c.1624N>G | p.Leu542Val | p.L542V | Q13671 | protein_coding | tolerated(0.46) | benign(0.19) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
RIN1 | SNV | Missense_Mutation | novel | c.2022N>A | p.Phe674Leu | p.F674L | Q13671 | protein_coding | deleterious(0) | probably_damaging(0.93) | TCGA-A1-A0SE-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
RIN1 | SNV | Missense_Mutation | | c.73C>G | p.Leu25Val | p.L25V | Q13671 | protein_coding | tolerated_low_confidence(0.1) | benign(0.069) | TCGA-A7-A0DA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RIN1 | SNV | Missense_Mutation | novel | c.1291G>A | p.Val431Ile | p.V431I | Q13671 | protein_coding | tolerated(0.24) | benign(0.005) | TCGA-AO-A03V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
RIN1 | SNV | Missense_Mutation | | c.803N>G | p.Pro268Arg | p.P268R | Q13671 | protein_coding | deleterious(0.02) | probably_damaging(0.999) | TCGA-D8-A27T-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicine+cyclophosphamide | SD |
RIN1 | SNV | Missense_Mutation | rs62619978 | c.2245N>T | p.Arg749Trp | p.R749W | Q13671 | protein_coding | deleterious_low_confidence(0.03) | benign(0.183) | TCGA-E9-A1RF-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Hormone Therapy | tamoxiphen | SD |
RIN1 | insertion | Nonsense_Mutation | novel | c.1822_1823insCATAGCTGCATCCAAAAGAGGCCCAGGTCATCTAACCTAAGGAGAAT | p.Arg608ProfsTer2 | p.R608Pfs*2 | Q13671 | protein_coding | | | TCGA-A2-A0CP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RIN1 | insertion | Frame_Shift_Ins | novel | c.1770_1771insACTTGTTTTTGCTTCTCCTCCTGCATAGCACCTCCTCCGAGTAG | p.Gly591ThrfsTer25 | p.G591Tfs*25 | Q13671 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
RIN1 | insertion | Nonsense_Mutation | novel | c.1770_1771insAATAGGACCTACCTCCTGGGGTTGAGGTGAAGATTAAATG | p.Gly591AsnfsTer10 | p.G591Nfs*10 | Q13671 | protein_coding | | | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RIN1 | SNV | Missense_Mutation | novel | c.1922N>T | p.Ser641Phe | p.S641F | Q13671 | protein_coding | deleterious(0) | probably_damaging(0.978) | TCGA-C5-A7X5-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |