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:00164824 | Colorectum | CRC | cytosolic transport | 45/2078 | 168/18723 | 1.22e-08 | 2.52e-06 | 45 |
GO:00068924 | Colorectum | CRC | post-Golgi vesicle-mediated transport | 33/2078 | 104/18723 | 1.22e-08 | 2.52e-06 | 33 |
GO:00313305 | Colorectum | CRC | negative regulation of cellular catabolic process | 61/2078 | 262/18723 | 1.27e-08 | 2.54e-06 | 61 |
GO:00432545 | Colorectum | CRC | regulation of protein-containing complex assembly | 87/2078 | 428/18723 | 1.38e-08 | 2.67e-06 | 87 |
GO:19038295 | Colorectum | CRC | positive regulation of cellular protein localization | 61/2078 | 276/18723 | 9.59e-08 | 1.17e-05 | 61 |
GO:00988764 | Colorectum | CRC | vesicle-mediated transport to the plasma membrane | 36/2078 | 136/18723 | 4.65e-07 | 3.40e-05 | 36 |
GO:00510985 | Colorectum | CRC | regulation of binding | 72/2078 | 363/18723 | 6.43e-07 | 4.50e-05 | 72 |
GO:00512225 | Colorectum | CRC | positive regulation of protein transport | 61/2078 | 303/18723 | 2.73e-06 | 1.27e-04 | 61 |
GO:00323885 | Colorectum | CRC | positive regulation of intracellular transport | 45/2078 | 202/18723 | 3.54e-06 | 1.54e-04 | 45 |
GO:00161974 | Colorectum | CRC | endosomal transport | 49/2078 | 230/18723 | 5.07e-06 | 2.05e-04 | 49 |
GO:00481935 | Colorectum | CRC | Golgi vesicle transport | 59/2078 | 296/18723 | 5.47e-06 | 2.17e-04 | 59 |
GO:00434344 | Colorectum | CRC | response to peptide hormone | 76/2078 | 414/18723 | 6.67e-06 | 2.56e-04 | 76 |
GO:19049515 | Colorectum | CRC | positive regulation of establishment of protein localization | 62/2078 | 319/18723 | 7.44e-06 | 2.72e-04 | 62 |
GO:00903165 | Colorectum | CRC | positive regulation of intracellular protein transport | 37/2078 | 160/18723 | 1.04e-05 | 3.44e-04 | 37 |
GO:00507673 | Colorectum | CRC | regulation of neurogenesis | 68/2078 | 364/18723 | 1.11e-05 | 3.62e-04 | 68 |
GO:00068983 | Colorectum | CRC | receptor-mediated endocytosis | 50/2078 | 244/18723 | 1.27e-05 | 4.08e-04 | 50 |
GO:00328684 | Colorectum | CRC | response to insulin | 53/2078 | 264/18723 | 1.30e-05 | 4.17e-04 | 53 |
GO:00071783 | Colorectum | CRC | transmembrane receptor protein serine/threonine kinase signaling pathway | 66/2078 | 355/18723 | 1.74e-05 | 5.28e-04 | 66 |
GO:00433935 | Colorectum | CRC | regulation of protein binding | 42/2078 | 196/18723 | 2.01e-05 | 5.90e-04 | 42 |
GO:00457325 | Colorectum | CRC | positive regulation of protein catabolic process | 47/2078 | 231/18723 | 2.75e-05 | 7.49e-04 | 47 |
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 |