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:004339323 | Oral cavity | EOLP | regulation of protein binding | 45/2218 | 196/18723 | 8.47e-06 | 1.61e-04 | 45 |
GO:000181915 | Oral cavity | EOLP | positive regulation of cytokine production | 87/2218 | 467/18723 | 1.08e-05 | 1.92e-04 | 87 |
GO:004662612 | Oral cavity | EOLP | regulation of insulin receptor signaling pathway | 21/2218 | 66/18723 | 1.41e-05 | 2.36e-04 | 21 |
GO:007099726 | Oral cavity | EOLP | neuron death | 70/2218 | 361/18723 | 2.01e-05 | 3.18e-04 | 70 |
GO:007086121 | Oral cavity | EOLP | regulation of protein exit from endoplasmic reticulum | 12/2218 | 27/18723 | 2.32e-05 | 3.50e-04 | 12 |
GO:190007611 | Oral cavity | EOLP | regulation of cellular response to insulin stimulus | 20/2218 | 64/18723 | 3.01e-05 | 4.30e-04 | 20 |
GO:001095124 | Oral cavity | EOLP | negative regulation of endopeptidase activity | 52/2218 | 252/18723 | 4.21e-05 | 5.74e-04 | 52 |
GO:000703422 | Oral cavity | EOLP | vacuolar transport | 36/2218 | 157/18723 | 6.66e-05 | 8.27e-04 | 36 |
GO:004340521 | Oral cavity | EOLP | regulation of MAP kinase activity | 39/2218 | 177/18723 | 8.57e-05 | 1.02e-03 | 39 |
GO:005134625 | Oral cavity | EOLP | negative regulation of hydrolase activity | 70/2218 | 379/18723 | 9.98e-05 | 1.14e-03 | 70 |
GO:004311223 | Oral cavity | EOLP | receptor metabolic process | 37/2218 | 166/18723 | 1.00e-04 | 1.14e-03 | 37 |
GO:007266613 | Oral cavity | EOLP | establishment of protein localization to vacuole | 16/2218 | 49/18723 | 1.03e-04 | 1.17e-03 | 16 |
GO:001046624 | Oral cavity | EOLP | negative regulation of peptidase activity | 52/2218 | 262/18723 | 1.21e-04 | 1.34e-03 | 52 |
GO:007190121 | Oral cavity | EOLP | negative regulation of protein serine/threonine kinase activity | 29/2218 | 120/18723 | 1.24e-04 | 1.37e-03 | 29 |
GO:004340924 | Oral cavity | EOLP | negative regulation of MAPK cascade | 39/2218 | 180/18723 | 1.25e-04 | 1.38e-03 | 39 |
GO:190121423 | Oral cavity | EOLP | regulation of neuron death | 60/2218 | 319/18723 | 1.83e-04 | 1.87e-03 | 60 |
GO:000662314 | Oral cavity | EOLP | protein targeting to vacuole | 13/2218 | 37/18723 | 1.98e-04 | 2.00e-03 | 13 |
GO:007266522 | Oral cavity | EOLP | protein localization to vacuole | 19/2218 | 67/18723 | 2.01e-04 | 2.02e-03 | 19 |
GO:003166725 | Oral cavity | EOLP | response to nutrient levels | 82/2218 | 474/18723 | 2.59e-04 | 2.52e-03 | 82 |
GO:003406722 | Oral cavity | EOLP | protein localization to Golgi apparatus | 11/2218 | 29/18723 | 2.83e-04 | 2.70e-03 | 11 |
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 |