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/PSEN1_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/PSEN1_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/PSEN1_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/PSEN1_pca_on_diff_genes.png) | ESCC: Esophageal squamous cell carcinoma |
HGIN: High-grade intraepithelial neoplasias |
LGIN: Low-grade intraepithelial neoplasias |
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/PSEN1_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/PSEN1_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/PSEN1_pca_on_diff_genes.png) | BPH: Benign Prostatic Hyperplasia |
Thyroid | ![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/Thyroid/PSEN1_pca_on_diff_genes.png) | ATC: Anaplastic thyroid cancer |
HT: Hashimoto's thyroiditis |
PTC: Papillary thyroid cancer |
GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000004512 | Oral cavity | LP | autophagosome assembly | 44/4623 | 99/18723 | 1.36e-05 | 2.40e-04 | 44 |
GO:1902903110 | Oral cavity | LP | regulation of supramolecular fiber organization | 131/4623 | 383/18723 | 1.58e-05 | 2.78e-04 | 131 |
GO:005165015 | Oral cavity | LP | establishment of vesicle localization | 64/4623 | 161/18723 | 1.65e-05 | 2.86e-04 | 64 |
GO:000660612 | Oral cavity | LP | protein import into nucleus | 62/4623 | 155/18723 | 1.76e-05 | 3.04e-04 | 62 |
GO:0030099110 | Oral cavity | LP | myeloid cell differentiation | 130/4623 | 381/18723 | 1.94e-05 | 3.27e-04 | 130 |
GO:0051100110 | Oral cavity | LP | negative regulation of binding | 64/4623 | 162/18723 | 2.07e-05 | 3.44e-04 | 64 |
GO:0042326110 | Oral cavity | LP | negative regulation of phosphorylation | 131/4623 | 385/18723 | 2.10e-05 | 3.46e-04 | 131 |
GO:190458913 | Oral cavity | LP | regulation of protein import | 31/4623 | 63/18723 | 2.20e-05 | 3.58e-04 | 31 |
GO:0051099110 | Oral cavity | LP | positive regulation of binding | 67/4623 | 173/18723 | 2.86e-05 | 4.51e-04 | 67 |
GO:001648513 | Oral cavity | LP | protein processing | 83/4623 | 225/18723 | 2.87e-05 | 4.52e-04 | 83 |
GO:190590615 | Oral cavity | LP | regulation of amyloid fibril formation | 12/4623 | 16/18723 | 3.30e-05 | 5.02e-04 | 12 |
GO:003367318 | Oral cavity | LP | negative regulation of kinase activity | 86/4623 | 237/18723 | 4.19e-05 | 6.07e-04 | 86 |
GO:190165317 | Oral cavity | LP | cellular response to peptide | 122/4623 | 359/18723 | 4.22e-05 | 6.10e-04 | 122 |
GO:0001933110 | Oral cavity | LP | negative regulation of protein phosphorylation | 117/4623 | 342/18723 | 4.34e-05 | 6.22e-04 | 117 |
GO:190459115 | Oral cavity | LP | positive regulation of protein import | 23/4623 | 43/18723 | 4.70e-05 | 6.64e-04 | 23 |
GO:004311216 | Oral cavity | LP | receptor metabolic process | 64/4623 | 166/18723 | 5.00e-05 | 7.02e-04 | 64 |
GO:000675319 | Oral cavity | LP | nucleoside phosphate metabolic process | 161/4623 | 497/18723 | 5.31e-05 | 7.39e-04 | 161 |
GO:000646919 | Oral cavity | LP | negative regulation of protein kinase activity | 78/4623 | 212/18723 | 5.45e-05 | 7.55e-04 | 78 |
GO:004230613 | Oral cavity | LP | regulation of protein import into nucleus | 29/4623 | 60/18723 | 6.10e-05 | 8.28e-04 | 29 |
GO:004230714 | Oral cavity | LP | positive regulation of protein import into nucleus | 22/4623 | 41/18723 | 6.43e-05 | 8.67e-04 | 22 |
Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0501018 | Cervix | CC | Alzheimer disease | 113/1267 | 384/8465 | 9.67e-14 | 3.92e-12 | 2.32e-12 | 113 |
hsa0502218 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa051657 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa043109 | Cervix | CC | Wnt signaling pathway | 43/1267 | 171/8465 | 3.03e-04 | 1.64e-03 | 9.68e-04 | 43 |
hsa0472214 | Cervix | CC | Neurotrophin signaling pathway | 32/1267 | 119/8465 | 5.01e-04 | 2.42e-03 | 1.43e-03 | 32 |
hsa04330 | Cervix | CC | Notch signaling pathway | 17/1267 | 62/8465 | 7.99e-03 | 2.56e-02 | 1.51e-02 | 17 |
hsa0501019 | Cervix | CC | Alzheimer disease | 113/1267 | 384/8465 | 9.67e-14 | 3.92e-12 | 2.32e-12 | 113 |
hsa0502219 | Cervix | CC | Pathways of neurodegeneration - multiple diseases | 128/1267 | 476/8465 | 2.87e-12 | 9.29e-11 | 5.50e-11 | 128 |
hsa0516512 | Cervix | CC | Human papillomavirus infection | 74/1267 | 331/8465 | 1.70e-04 | 1.02e-03 | 6.03e-04 | 74 |
hsa0431012 | Cervix | CC | Wnt signaling pathway | 43/1267 | 171/8465 | 3.03e-04 | 1.64e-03 | 9.68e-04 | 43 |
hsa0472215 | Cervix | CC | Neurotrophin signaling pathway | 32/1267 | 119/8465 | 5.01e-04 | 2.42e-03 | 1.43e-03 | 32 |
hsa043301 | Cervix | CC | Notch signaling pathway | 17/1267 | 62/8465 | 7.99e-03 | 2.56e-02 | 1.51e-02 | 17 |
hsa0502244 | Cervix | N_HPV | Pathways of neurodegeneration - multiple diseases | 47/349 | 476/8465 | 1.48e-08 | 3.13e-07 | 2.45e-07 | 47 |
hsa0501044 | Cervix | N_HPV | Alzheimer disease | 41/349 | 384/8465 | 1.50e-08 | 3.13e-07 | 2.45e-07 | 41 |
hsa0502254 | Cervix | N_HPV | Pathways of neurodegeneration - multiple diseases | 47/349 | 476/8465 | 1.48e-08 | 3.13e-07 | 2.45e-07 | 47 |
hsa0501054 | Cervix | N_HPV | Alzheimer disease | 41/349 | 384/8465 | 1.50e-08 | 3.13e-07 | 2.45e-07 | 41 |
hsa05010 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa05022 | Colorectum | AD | Pathways of neurodegeneration - multiple diseases | 201/2092 | 476/8465 | 4.54e-18 | 1.27e-16 | 8.09e-17 | 201 |
hsa04722 | Colorectum | AD | Neurotrophin signaling pathway | 50/2092 | 119/8465 | 2.28e-05 | 2.24e-04 | 1.43e-04 | 50 |
hsa04310 | Colorectum | AD | Wnt signaling pathway | 56/2092 | 171/8465 | 1.03e-02 | 3.93e-02 | 2.51e-02 | 56 |
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 |
PSEN1 | SNV | Missense_Mutation | | c.211G>A | p.Glu71Lys | p.E71K | P49768 | protein_coding | deleterious(0.01) | probably_damaging(0.996) | TCGA-BH-A18P-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
PSEN1 | insertion | Nonsense_Mutation | novel | c.254_255insTCATTTTCAGTGAACTACAAATCTCTGAAACCCAAAA | p.Phe86HisfsTer4 | p.F86Hfs*4 | P49768 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
PSEN1 | insertion | Frame_Shift_Ins | novel | c.277_278insTGGTGGTGGTCGTGGCATGG | p.Thr99TrpfsTer22 | p.T99Wfs*22 | P49768 | protein_coding | | | TCGA-AR-A2LK-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | anastrozole | PD |
PSEN1 | SNV | Missense_Mutation | rs756764981 | c.1037N>A | p.Ser346Asn | p.S346N | P49768 | protein_coding | tolerated(0.45) | benign(0) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PSEN1 | SNV | Missense_Mutation | | c.151N>C | p.Ser51Pro | p.S51P | P49768 | protein_coding | tolerated(0.14) | benign(0) | TCGA-C5-A1M9-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD |
PSEN1 | SNV | Missense_Mutation | | c.961G>A | p.Glu321Lys | p.E321K | P49768 | protein_coding | tolerated(0.6) | benign(0.015) | TCGA-FU-A23L-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PSEN1 | SNV | Missense_Mutation | | c.630G>T | p.Met210Ile | p.M210I | P49768 | protein_coding | deleterious(0.03) | probably_damaging(0.989) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PSEN1 | SNV | Missense_Mutation | | c.1321T>G | p.Phe441Val | p.F441V | P49768 | protein_coding | deleterious(0.01) | probably_damaging(0.998) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PSEN1 | SNV | Missense_Mutation | novel | c.908N>A | p.Pro303Gln | p.P303Q | P49768 | protein_coding | deleterious(0.03) | possibly_damaging(0.573) | TCGA-RA-A741-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | SD |
PSEN1 | SNV | Missense_Mutation | | c.407N>T | p.Ala136Val | p.A136V | P49768 | protein_coding | deleterious(0.04) | possibly_damaging(0.704) | TCGA-AA-3821-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | inhibitor | MK0752 | | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | | BMS-708163 | AVAGACESTAT | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | | E2012 | | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | inhibitor | MK0752 | | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | | R-flurbiprofen | | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | inhibitor | CHEMBL1090771 | AVAGACESTAT | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | | LY-411575 | CHEMBL392068 | 23181502,19443228 |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | | BMS-299897 | CHEMBL247471 | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | inhibitor | 178103911 | | |
5663 | PSEN1 | ENZYME, TRANSPORTER, PROTEASE, DRUGGABLE GENOME, CELL SURFACE | inhibitor | 178103557 | SEMAGACESTAT | |