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:001076919 | Oral cavity | LP | regulation of cell morphogenesis involved in differentiation | 35/4623 | 96/18723 | 6.68e-03 | 3.89e-02 | 35 |
GO:000641726 | Oral cavity | EOLP | regulation of translation | 108/2218 | 468/18723 | 4.04e-12 | 7.34e-10 | 108 |
GO:002260425 | Oral cavity | EOLP | regulation of cell morphogenesis | 69/2218 | 309/18723 | 1.21e-07 | 4.01e-06 | 69 |
GO:003134621 | Oral cavity | EOLP | positive regulation of cell projection organization | 74/2218 | 353/18723 | 6.00e-07 | 1.56e-05 | 74 |
GO:001635815 | Oral cavity | EOLP | dendrite development | 55/2218 | 243/18723 | 1.43e-06 | 3.42e-05 | 55 |
GO:001097515 | Oral cavity | EOLP | regulation of neuron projection development | 86/2218 | 445/18723 | 2.75e-06 | 6.05e-05 | 86 |
GO:001714813 | Oral cavity | EOLP | negative regulation of translation | 54/2218 | 245/18723 | 4.15e-06 | 8.72e-05 | 54 |
GO:003424913 | Oral cavity | EOLP | negative regulation of cellular amide metabolic process | 58/2218 | 273/18723 | 6.23e-06 | 1.22e-04 | 58 |
GO:006099614 | Oral cavity | EOLP | dendritic spine development | 27/2218 | 99/18723 | 2.21e-05 | 3.37e-04 | 27 |
GO:001072021 | Oral cavity | EOLP | positive regulation of cell development | 59/2218 | 298/18723 | 4.72e-05 | 6.25e-04 | 59 |
GO:00488137 | Oral cavity | EOLP | dendrite morphogenesis | 34/2218 | 146/18723 | 7.56e-05 | 9.19e-04 | 34 |
GO:00609986 | Oral cavity | EOLP | regulation of dendritic spine development | 18/2218 | 61/18723 | 1.69e-04 | 1.78e-03 | 18 |
GO:001076923 | Oral cavity | EOLP | regulation of cell morphogenesis involved in differentiation | 24/2218 | 96/18723 | 2.68e-04 | 2.58e-03 | 24 |
GO:001097621 | Oral cavity | EOLP | positive regulation of neuron projection development | 35/2218 | 163/18723 | 3.25e-04 | 3.03e-03 | 35 |
GO:01060279 | Oral cavity | EOLP | neuron projection organization | 23/2218 | 93/18723 | 4.20e-04 | 3.72e-03 | 23 |
GO:001077016 | Oral cavity | EOLP | positive regulation of cell morphogenesis involved in differentiation | 20/2218 | 79/18723 | 7.07e-04 | 5.78e-03 | 20 |
GO:00609993 | Oral cavity | EOLP | positive regulation of dendritic spine development | 13/2218 | 42/18723 | 8.03e-04 | 6.31e-03 | 13 |
GO:00970618 | Oral cavity | EOLP | dendritic spine organization | 20/2218 | 84/18723 | 1.60e-03 | 1.07e-02 | 20 |
GO:005076912 | Oral cavity | EOLP | positive regulation of neurogenesis | 42/2218 | 225/18723 | 1.83e-03 | 1.19e-02 | 42 |
GO:005076712 | Oral cavity | EOLP | regulation of neurogenesis | 61/2218 | 364/18723 | 3.20e-03 | 1.86e-02 | 61 |
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 |