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:001703831 | Oral cavity | NEOLP | protein import | 42/2005 | 206/18723 | 2.98e-05 | 4.54e-04 | 42 |
GO:000660631 | Oral cavity | NEOLP | protein import into nucleus | 34/2005 | 155/18723 | 3.55e-05 | 5.20e-04 | 34 |
GO:001623631 | Oral cavity | NEOLP | macroautophagy | 54/2005 | 291/18723 | 3.95e-05 | 5.62e-04 | 54 |
GO:000918532 | Oral cavity | NEOLP | ribonucleoside diphosphate metabolic process | 26/2005 | 106/18723 | 3.95e-05 | 5.62e-04 | 26 |
GO:006156421 | Oral cavity | NEOLP | axon development | 78/2005 | 467/18723 | 4.49e-05 | 6.26e-04 | 78 |
GO:000740914 | Oral cavity | NEOLP | axonogenesis | 71/2005 | 418/18723 | 5.64e-05 | 7.62e-04 | 71 |
GO:003361931 | Oral cavity | NEOLP | membrane protein proteolysis | 17/2005 | 57/18723 | 6.31e-05 | 8.33e-04 | 17 |
GO:190458931 | Oral cavity | NEOLP | regulation of protein import | 18/2005 | 63/18723 | 7.26e-05 | 9.41e-04 | 18 |
GO:005067323 | Oral cavity | NEOLP | epithelial cell proliferation | 73/2005 | 437/18723 | 7.74e-05 | 9.93e-04 | 73 |
GO:000257331 | Oral cavity | NEOLP | myeloid leukocyte differentiation | 41/2005 | 208/18723 | 8.21e-05 | 1.03e-03 | 41 |
GO:00485686 | Oral cavity | NEOLP | embryonic organ development | 71/2005 | 427/18723 | 1.12e-04 | 1.34e-03 | 71 |
GO:004230631 | Oral cavity | NEOLP | regulation of protein import into nucleus | 17/2005 | 60/18723 | 1.28e-04 | 1.49e-03 | 17 |
GO:005076721 | Oral cavity | NEOLP | regulation of neurogenesis | 62/2005 | 364/18723 | 1.50e-04 | 1.71e-03 | 62 |
GO:004358831 | Oral cavity | NEOLP | skin development | 48/2005 | 263/18723 | 1.56e-04 | 1.77e-03 | 48 |
GO:005165132 | Oral cavity | NEOLP | maintenance of location in cell | 41/2005 | 214/18723 | 1.57e-04 | 1.77e-03 | 41 |
GO:004853821 | Oral cavity | NEOLP | thymus development | 14/2005 | 45/18723 | 1.67e-04 | 1.86e-03 | 14 |
GO:005165031 | Oral cavity | NEOLP | establishment of vesicle localization | 33/2005 | 161/18723 | 1.83e-04 | 1.99e-03 | 33 |
GO:000913232 | Oral cavity | NEOLP | nucleoside diphosphate metabolic process | 27/2005 | 124/18723 | 2.46e-04 | 2.54e-03 | 27 |
GO:006099621 | Oral cavity | NEOLP | dendritic spine development | 23/2005 | 99/18723 | 2.57e-04 | 2.62e-03 | 23 |
GO:010602713 | Oral cavity | NEOLP | neuron projection organization | 22/2005 | 93/18723 | 2.64e-04 | 2.69e-03 | 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 | |