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:0006096 | Colorectum | AD | glycolytic process | 38/3918 | 81/18723 | 1.52e-07 | 6.78e-06 | 38 |
GO:1900180 | Colorectum | AD | regulation of protein localization to nucleus | 55/3918 | 136/18723 | 1.70e-07 | 7.34e-06 | 55 |
GO:0090316 | Colorectum | AD | positive regulation of intracellular protein transport | 62/3918 | 160/18723 | 1.82e-07 | 7.79e-06 | 62 |
GO:0032388 | Colorectum | AD | positive regulation of intracellular transport | 74/3918 | 202/18723 | 1.83e-07 | 7.80e-06 | 74 |
GO:0006757 | Colorectum | AD | ATP generation from ADP | 38/3918 | 82/18723 | 2.26e-07 | 9.37e-06 | 38 |
GO:0032434 | Colorectum | AD | regulation of proteasomal ubiquitin-dependent protein catabolic process | 54/3918 | 134/18723 | 2.51e-07 | 1.02e-05 | 54 |
GO:1903052 | Colorectum | AD | positive regulation of proteolysis involved in cellular protein catabolic process | 53/3918 | 133/18723 | 4.93e-07 | 1.85e-05 | 53 |
GO:0032386 | Colorectum | AD | regulation of intracellular transport | 109/3918 | 337/18723 | 5.33e-07 | 1.95e-05 | 109 |
GO:0033157 | Colorectum | AD | regulation of intracellular protein transport | 80/3918 | 229/18723 | 5.81e-07 | 2.09e-05 | 80 |
GO:0043112 | Colorectum | AD | receptor metabolic process | 62/3918 | 166/18723 | 8.18e-07 | 2.85e-05 | 62 |
GO:1901653 | Colorectum | AD | cellular response to peptide | 114/3918 | 359/18723 | 8.32e-07 | 2.88e-05 | 114 |
GO:1903051 | Colorectum | AD | negative regulation of proteolysis involved in cellular protein catabolic process | 31/3918 | 64/18723 | 8.71e-07 | 2.98e-05 | 31 |
GO:0070997 | Colorectum | AD | neuron death | 114/3918 | 361/18723 | 1.13e-06 | 3.72e-05 | 114 |
GO:0030099 | Colorectum | AD | myeloid cell differentiation | 119/3918 | 381/18723 | 1.24e-06 | 4.01e-05 | 119 |
GO:1900182 | Colorectum | AD | positive regulation of protein localization to nucleus | 38/3918 | 87/18723 | 1.43e-06 | 4.52e-05 | 38 |
GO:2000060 | Colorectum | AD | positive regulation of ubiquitin-dependent protein catabolic process | 44/3918 | 107/18723 | 1.65e-06 | 5.03e-05 | 44 |
GO:0009132 | Colorectum | AD | nucleoside diphosphate metabolic process | 49/3918 | 124/18723 | 1.75e-06 | 5.31e-05 | 49 |
GO:0046939 | Colorectum | AD | nucleotide phosphorylation | 42/3918 | 101/18723 | 1.99e-06 | 5.92e-05 | 42 |
GO:1901185 | Colorectum | AD | negative regulation of ERBB signaling pathway | 19/3918 | 32/18723 | 2.39e-06 | 6.98e-05 | 19 |
GO:0034504 | Colorectum | AD | protein localization to nucleus | 94/3918 | 290/18723 | 2.83e-06 | 8.09e-05 | 94 |
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 | |