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:1903321111 | Esophagus | ESCC | negative regulation of protein modification by small protein conjugation or removal | 69/8552 | 95/18723 | 8.54e-08 | 1.44e-06 | 69 |
GO:0042177111 | Esophagus | ESCC | negative regulation of protein catabolic process | 84/8552 | 121/18723 | 1.03e-07 | 1.69e-06 | 84 |
GO:00219159 | Esophagus | ESCC | neural tube development | 101/8552 | 152/18723 | 1.78e-07 | 2.79e-06 | 101 |
GO:190503712 | Esophagus | ESCC | autophagosome organization | 73/8552 | 103/18723 | 1.88e-07 | 2.93e-06 | 73 |
GO:190458914 | Esophagus | ESCC | regulation of protein import | 49/8552 | 63/18723 | 1.91e-07 | 2.97e-06 | 49 |
GO:00091002 | Esophagus | ESCC | glycoprotein metabolic process | 226/8552 | 387/18723 | 2.64e-07 | 3.94e-06 | 226 |
GO:000756820 | Esophagus | ESCC | aging | 201/8552 | 339/18723 | 2.64e-07 | 3.94e-06 | 201 |
GO:190459116 | Esophagus | ESCC | positive regulation of protein import | 36/8552 | 43/18723 | 2.90e-07 | 4.20e-06 | 36 |
GO:0009259111 | Esophagus | ESCC | ribonucleotide metabolic process | 224/8552 | 385/18723 | 4.41e-07 | 6.00e-06 | 224 |
GO:003011117 | Esophagus | ESCC | regulation of Wnt signaling pathway | 194/8552 | 328/18723 | 5.39e-07 | 7.14e-06 | 194 |
GO:003812718 | Esophagus | ESCC | ERBB signaling pathway | 82/8552 | 121/18723 | 7.23e-07 | 9.40e-06 | 82 |
GO:006007016 | Esophagus | ESCC | canonical Wnt signaling pathway | 180/8552 | 303/18723 | 9.15e-07 | 1.17e-05 | 180 |
GO:004230614 | Esophagus | ESCC | regulation of protein import into nucleus | 46/8552 | 60/18723 | 9.55e-07 | 1.21e-05 | 46 |
GO:004230715 | Esophagus | ESCC | positive regulation of protein import into nucleus | 34/8552 | 41/18723 | 9.84e-07 | 1.24e-05 | 34 |
GO:000004513 | Esophagus | ESCC | autophagosome assembly | 69/8552 | 99/18723 | 1.10e-06 | 1.38e-05 | 69 |
GO:0072521111 | Esophagus | ESCC | purine-containing compound metabolic process | 238/8552 | 416/18723 | 1.20e-06 | 1.49e-05 | 238 |
GO:006082817 | Esophagus | ESCC | regulation of canonical Wnt signaling pathway | 153/8552 | 253/18723 | 1.38e-06 | 1.67e-05 | 153 |
GO:0009150111 | Esophagus | ESCC | purine ribonucleotide metabolic process | 213/8552 | 368/18723 | 1.40e-06 | 1.69e-05 | 213 |
GO:190165319 | Esophagus | ESCC | cellular response to peptide | 208/8552 | 359/18723 | 1.68e-06 | 2.01e-05 | 208 |
GO:00719029 | Esophagus | ESCC | positive regulation of protein serine/threonine kinase activity | 124/8552 | 200/18723 | 2.27e-06 | 2.61e-05 | 124 |
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 | |