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/SORL1_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/SORL1_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/SORL1_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/SORL1_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/SORL1_pca_on_diff_genes.png) | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
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/SORL1_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/SORL1_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/SORL1_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/SORL1_pca_on_diff_genes.png) | AK: Actinic keratosis |
cSCC: Cutaneous squamous cell carcinoma |
SCCIS:squamous cell carcinoma in situ |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005076711 | Prostate | Tumor | regulation of neurogenesis | 93/3246 | 364/18723 | 4.45e-05 | 5.02e-04 | 93 |
GO:009887613 | Prostate | Tumor | vesicle-mediated transport to the plasma membrane | 42/3246 | 136/18723 | 7.47e-05 | 7.84e-04 | 42 |
GO:001095116 | Prostate | Tumor | negative regulation of endopeptidase activity | 68/3246 | 252/18723 | 7.91e-05 | 8.19e-04 | 68 |
GO:000717815 | Prostate | Tumor | transmembrane receptor protein serine/threonine kinase signaling pathway | 90/3246 | 355/18723 | 7.93e-05 | 8.19e-04 | 90 |
GO:001046617 | Prostate | Tumor | negative regulation of peptidase activity | 70/3246 | 262/18723 | 8.76e-05 | 8.66e-04 | 70 |
GO:000689816 | Prostate | Tumor | receptor-mediated endocytosis | 66/3246 | 244/18723 | 9.25e-05 | 9.05e-04 | 66 |
GO:006146211 | Prostate | Tumor | protein localization to lysosome | 19/3246 | 46/18723 | 1.14e-04 | 1.08e-03 | 19 |
GO:001619713 | Prostate | Tumor | endosomal transport | 62/3246 | 230/18723 | 1.65e-04 | 1.47e-03 | 62 |
GO:003209114 | Prostate | Tumor | negative regulation of protein binding | 31/3246 | 94/18723 | 1.69e-04 | 1.50e-03 | 31 |
GO:003252712 | Prostate | Tumor | protein exit from endoplasmic reticulum | 19/3246 | 48/18723 | 2.23e-04 | 1.90e-03 | 19 |
GO:009892713 | Prostate | Tumor | vesicle-mediated transport between endosomal compartments | 17/3246 | 43/18723 | 4.79e-04 | 3.57e-03 | 17 |
GO:000181914 | Prostate | Tumor | positive regulation of cytokine production | 109/3246 | 467/18723 | 4.98e-04 | 3.67e-03 | 109 |
GO:000704113 | Prostate | Tumor | lysosomal transport | 34/3246 | 114/18723 | 7.00e-04 | 4.92e-03 | 34 |
GO:000662211 | Prostate | Tumor | protein targeting to lysosome | 11/3246 | 23/18723 | 7.28e-04 | 5.08e-03 | 11 |
GO:005165119 | Prostate | Tumor | maintenance of location in cell | 56/3246 | 214/18723 | 7.31e-04 | 5.08e-03 | 56 |
GO:00719011 | Prostate | Tumor | negative regulation of protein serine/threonine kinase activity | 35/3246 | 120/18723 | 9.20e-04 | 6.08e-03 | 35 |
GO:007086111 | Prostate | Tumor | regulation of protein exit from endoplasmic reticulum | 12/3246 | 27/18723 | 9.52e-04 | 6.20e-03 | 12 |
GO:000828614 | Prostate | Tumor | insulin receptor signaling pathway | 34/3246 | 116/18723 | 9.83e-04 | 6.36e-03 | 34 |
GO:00429821 | Prostate | Tumor | amyloid precursor protein metabolic process | 29/3246 | 95/18723 | 1.12e-03 | 7.14e-03 | 29 |
GO:00902871 | Prostate | Tumor | regulation of cellular response to growth factor stimulus | 74/3246 | 304/18723 | 1.13e-03 | 7.22e-03 | 74 |
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 |
SORL1 | SNV | Missense_Mutation | novel | c.1999N>A | p.Asp667Asn | p.D667N | Q92673 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SORL1 | SNV | Missense_Mutation | | c.883N>A | p.Glu295Lys | p.E295K | Q92673 | protein_coding | deleterious(0.02) | probably_damaging(0.989) | TCGA-AO-A0JC-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
SORL1 | SNV | Missense_Mutation | novel | c.3388A>T | p.Thr1130Ser | p.T1130S | Q92673 | protein_coding | tolerated(0.71) | benign(0.007) | TCGA-BH-A0E2-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
SORL1 | SNV | Missense_Mutation | novel | c.529N>C | p.Tyr177His | p.Y177H | Q92673 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-BH-A18G-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
SORL1 | SNV | Missense_Mutation | | c.1426C>T | p.His476Tyr | p.H476Y | Q92673 | protein_coding | deleterious(0) | possibly_damaging(0.852) | TCGA-D8-A1XM-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
SORL1 | SNV | Missense_Mutation | rs149445303 | c.5627N>T | p.Thr1876Met | p.T1876M | Q92673 | protein_coding | deleterious(0.01) | probably_damaging(0.997) | TCGA-E9-A243-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | PD |
SORL1 | insertion | Frame_Shift_Ins | novel | c.4917_4918insATTGTTGGGATTCATCTCATTGTTATTTCTGTTACTCAAACCA | p.Asp1640IlefsTer60 | p.D1640Ifs*60 | Q92673 | protein_coding | | | TCGA-A8-A07R-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Ancillary | zoledronic | SD |
SORL1 | insertion | Frame_Shift_Ins | novel | c.2838_2839insTATTA | p.Thr947TyrfsTer2 | p.T947Yfs*2 | Q92673 | protein_coding | | | TCGA-A8-A07U-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
SORL1 | insertion | In_Frame_Ins | novel | c.4008_4009insCTGTATCAGATGGCACTCCCAGCGTGCCGTAGCCCCTTACCC | p.Val1336_Cys1337insLeuTyrGlnMetAlaLeuProAlaCysArgSerProLeuPro | p.V1336_C1337insLYQMALPACRSPLP | Q92673 | protein_coding | | | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
SORL1 | insertion | Frame_Shift_Ins | novel | c.5847_5848insTTTTGCAAATGTTCCGGTGCCCCTGCTGCTCTTGGAT | p.Ile1950PhefsTer20 | p.I1950Ffs*20 | Q92673 | protein_coding | | | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |