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:009031610 | Oral cavity | OSCC | positive regulation of intracellular protein transport | 110/7305 | 160/18723 | 2.10e-14 | 1.19e-12 | 110 |
GO:005109820 | Oral cavity | OSCC | regulation of binding | 212/7305 | 363/18723 | 3.88e-14 | 2.15e-12 | 212 |
GO:005134820 | Oral cavity | OSCC | negative regulation of transferase activity | 165/7305 | 268/18723 | 5.02e-14 | 2.74e-12 | 165 |
GO:005254720 | Oral cavity | OSCC | regulation of peptidase activity | 255/7305 | 461/18723 | 5.78e-13 | 2.75e-11 | 255 |
GO:001056320 | Oral cavity | OSCC | negative regulation of phosphorus metabolic process | 246/7305 | 442/18723 | 6.12e-13 | 2.89e-11 | 246 |
GO:004593620 | Oral cavity | OSCC | negative regulation of phosphate metabolic process | 245/7305 | 441/18723 | 8.85e-13 | 4.09e-11 | 245 |
GO:00161979 | Oral cavity | OSCC | endosomal transport | 141/7305 | 230/18723 | 5.40e-12 | 2.06e-10 | 141 |
GO:000703410 | Oral cavity | OSCC | vacuolar transport | 103/7305 | 157/18723 | 1.25e-11 | 4.44e-10 | 103 |
GO:004232619 | Oral cavity | OSCC | negative regulation of phosphorylation | 214/7305 | 385/18723 | 2.30e-11 | 7.74e-10 | 214 |
GO:007099720 | Oral cavity | OSCC | neuron death | 202/7305 | 361/18723 | 3.75e-11 | 1.23e-09 | 202 |
GO:007190010 | Oral cavity | OSCC | regulation of protein serine/threonine kinase activity | 201/7305 | 359/18723 | 3.90e-11 | 1.27e-09 | 201 |
GO:005160410 | Oral cavity | OSCC | protein maturation | 170/7305 | 294/18723 | 3.97e-11 | 1.28e-09 | 170 |
GO:005254820 | Oral cavity | OSCC | regulation of endopeptidase activity | 235/7305 | 432/18723 | 4.35e-11 | 1.40e-09 | 235 |
GO:004339318 | Oral cavity | OSCC | regulation of protein binding | 121/7305 | 196/18723 | 8.92e-11 | 2.73e-09 | 121 |
GO:000193319 | Oral cavity | OSCC | negative regulation of protein phosphorylation | 191/7305 | 342/18723 | 1.58e-10 | 4.62e-09 | 191 |
GO:00164829 | Oral cavity | OSCC | cytosolic transport | 106/7305 | 168/18723 | 2.08e-10 | 5.90e-09 | 106 |
GO:000989519 | Oral cavity | OSCC | negative regulation of catabolic process | 180/7305 | 320/18723 | 2.44e-10 | 6.86e-09 | 180 |
GO:003367317 | Oral cavity | OSCC | negative regulation of kinase activity | 140/7305 | 237/18723 | 2.74e-10 | 7.57e-09 | 140 |
GO:003133020 | Oral cavity | OSCC | negative regulation of cellular catabolic process | 152/7305 | 262/18723 | 3.04e-10 | 8.28e-09 | 152 |
GO:000646918 | Oral cavity | OSCC | negative regulation of protein kinase activity | 127/7305 | 212/18723 | 5.21e-10 | 1.37e-08 | 127 |
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 |