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:00519605 | Oral cavity | OSCC | regulation of nervous system development | 205/7305 | 443/18723 | 9.80e-04 | 5.11e-03 | 205 |
GO:00429823 | Oral cavity | OSCC | amyloid precursor protein metabolic process | 52/7305 | 95/18723 | 1.33e-03 | 6.62e-03 | 52 |
GO:0060628 | Oral cavity | OSCC | regulation of ER to Golgi vesicle-mediated transport | 12/7305 | 15/18723 | 1.49e-03 | 7.13e-03 | 12 |
GO:007084116 | Oral cavity | OSCC | inclusion body assembly | 17/7305 | 24/18723 | 1.59e-03 | 7.56e-03 | 17 |
GO:00466263 | Oral cavity | OSCC | regulation of insulin receptor signaling pathway | 38/7305 | 66/18723 | 1.70e-03 | 8.07e-03 | 38 |
GO:19000763 | Oral cavity | OSCC | regulation of cellular response to insulin stimulus | 37/7305 | 64/18723 | 1.76e-03 | 8.31e-03 | 37 |
GO:000181910 | Oral cavity | OSCC | positive regulation of cytokine production | 213/7305 | 467/18723 | 1.93e-03 | 8.96e-03 | 213 |
GO:00614625 | Oral cavity | OSCC | protein localization to lysosome | 28/7305 | 46/18723 | 2.19e-03 | 9.95e-03 | 28 |
GO:00342495 | Oral cavity | OSCC | negative regulation of cellular amide metabolic process | 130/7305 | 273/18723 | 2.20e-03 | 1.00e-02 | 130 |
GO:00071789 | Oral cavity | OSCC | transmembrane receptor protein serine/threonine kinase signaling pathway | 165/7305 | 355/18723 | 2.31e-03 | 1.02e-02 | 165 |
GO:00442426 | Oral cavity | OSCC | cellular lipid catabolic process | 104/7305 | 214/18723 | 2.61e-03 | 1.15e-02 | 104 |
GO:00192167 | Oral cavity | OSCC | regulation of lipid metabolic process | 154/7305 | 331/18723 | 3.00e-03 | 1.30e-02 | 154 |
GO:19000783 | Oral cavity | OSCC | positive regulation of cellular response to insulin stimulus | 17/7305 | 25/18723 | 3.16e-03 | 1.36e-02 | 17 |
GO:009008410 | Oral cavity | OSCC | negative regulation of inclusion body assembly | 9/7305 | 11/18723 | 4.85e-03 | 1.92e-02 | 9 |
GO:00360105 | Oral cavity | OSCC | protein localization to endosome | 16/7305 | 24/18723 | 5.63e-03 | 2.17e-02 | 16 |
GO:19036495 | Oral cavity | OSCC | regulation of cytoplasmic transport | 18/7305 | 28/18723 | 5.96e-03 | 2.27e-02 | 18 |
GO:00504353 | Oral cavity | OSCC | amyloid-beta metabolic process | 36/7305 | 67/18723 | 1.01e-02 | 3.51e-02 | 36 |
GO:19908454 | Oral cavity | OSCC | adaptive thermogenesis | 76/7305 | 157/18723 | 1.02e-02 | 3.52e-02 | 76 |
GO:00342052 | Oral cavity | OSCC | amyloid-beta formation | 31/7305 | 57/18723 | 1.32e-02 | 4.38e-02 | 31 |
GO:007259419 | Oral cavity | LP | establishment of protein localization to organelle | 205/4623 | 422/18723 | 6.76e-27 | 3.85e-24 | 205 |
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 |