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Gene: PSENEN |
Gene summary for PSENEN |
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Gene information | Species | Human | Gene symbol | PSENEN | Gene ID | 55851 |
Gene name | presenilin enhancer, gamma-secretase subunit | |
Gene Alias | ACNINV2 | |
Cytomap | 19q13.12 | |
Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | Q9NZ42 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
55851 | PSENEN | LZE21T | Human | Esophagus | ESCC | 4.13e-06 | 3.75e-01 | 0.0655 |
55851 | PSENEN | LZE6T | Human | Esophagus | ESCC | 6.94e-10 | 6.16e-01 | 0.0845 |
55851 | PSENEN | P1T-E | Human | Esophagus | ESCC | 1.76e-10 | 8.44e-01 | 0.0875 |
55851 | PSENEN | P2T-E | Human | Esophagus | ESCC | 2.63e-37 | 5.71e-01 | 0.1177 |
55851 | PSENEN | P4T-E | Human | Esophagus | ESCC | 8.81e-39 | 9.37e-01 | 0.1323 |
55851 | PSENEN | P5T-E | Human | Esophagus | ESCC | 6.97e-51 | 9.80e-01 | 0.1327 |
55851 | PSENEN | P8T-E | Human | Esophagus | ESCC | 1.37e-64 | 1.53e+00 | 0.0889 |
55851 | PSENEN | P9T-E | Human | Esophagus | ESCC | 1.60e-47 | 1.14e+00 | 0.1131 |
55851 | PSENEN | P10T-E | Human | Esophagus | ESCC | 3.19e-69 | 1.21e+00 | 0.116 |
55851 | PSENEN | P11T-E | Human | Esophagus | ESCC | 6.79e-28 | 1.07e+00 | 0.1426 |
55851 | PSENEN | P12T-E | Human | Esophagus | ESCC | 9.78e-39 | 5.91e-01 | 0.1122 |
55851 | PSENEN | P15T-E | Human | Esophagus | ESCC | 3.66e-37 | 7.90e-01 | 0.1149 |
55851 | PSENEN | P16T-E | Human | Esophagus | ESCC | 3.65e-19 | 3.97e-01 | 0.1153 |
55851 | PSENEN | P17T-E | Human | Esophagus | ESCC | 2.44e-19 | 8.45e-01 | 0.1278 |
55851 | PSENEN | P19T-E | Human | Esophagus | ESCC | 1.46e-13 | 1.70e+00 | 0.1662 |
55851 | PSENEN | P20T-E | Human | Esophagus | ESCC | 6.09e-49 | 1.01e+00 | 0.1124 |
55851 | PSENEN | P21T-E | Human | Esophagus | ESCC | 1.02e-41 | 7.92e-01 | 0.1617 |
55851 | PSENEN | P22T-E | Human | Esophagus | ESCC | 9.06e-66 | 1.09e+00 | 0.1236 |
55851 | PSENEN | P23T-E | Human | Esophagus | ESCC | 2.49e-62 | 1.67e+00 | 0.108 |
55851 | PSENEN | P24T-E | Human | Esophagus | ESCC | 4.14e-35 | 7.68e-01 | 0.1287 |
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∗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. |
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Malignant transformation related pathway analysis |
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Tissue | Disease Stage | Enriched GO biological Processes |
Colorectum | AD | ![]() |
Colorectum | SER | ![]() |
Colorectum | MSS | ![]() |
Colorectum | MSI-H | ![]() |
Colorectum | FAP | ![]() |
∗Top 15 enriched GO BP terms are showed in the bar plot of each disease state in each tissue. Each row represents a significant GO biological process which is colored according to the -log10(p.adjust). |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0045862 | Colorectum | AD | positive regulation of proteolysis | 129/3918 | 372/18723 | 4.04e-10 | 3.46e-08 | 129 |
GO:0052547 | Colorectum | AD | regulation of peptidase activity | 137/3918 | 461/18723 | 4.12e-06 | 1.12e-04 | 137 |
GO:0010952 | Colorectum | AD | positive regulation of peptidase activity | 68/3918 | 197/18723 | 6.30e-06 | 1.59e-04 | 68 |
GO:0052548 | Colorectum | AD | regulation of endopeptidase activity | 124/3918 | 432/18723 | 6.58e-05 | 1.07e-03 | 124 |
GO:0010950 | Colorectum | AD | positive regulation of endopeptidase activity | 59/3918 | 179/18723 | 1.11e-04 | 1.65e-03 | 59 |
GO:0051604 | Colorectum | AD | protein maturation | 85/3918 | 294/18723 | 6.73e-04 | 6.91e-03 | 85 |
GO:0033619 | Colorectum | AD | membrane protein proteolysis | 21/3918 | 57/18723 | 4.16e-03 | 2.88e-02 | 21 |
GO:0016485 | Colorectum | AD | protein processing | 63/3918 | 225/18723 | 6.77e-03 | 4.19e-02 | 63 |
GO:0007219 | Colorectum | AD | Notch signaling pathway | 50/3918 | 172/18723 | 6.92e-03 | 4.26e-02 | 50 |
GO:00458621 | Colorectum | SER | positive regulation of proteolysis | 106/2897 | 372/18723 | 8.40e-11 | 1.20e-08 | 106 |
GO:00525471 | Colorectum | SER | regulation of peptidase activity | 114/2897 | 461/18723 | 1.18e-07 | 7.17e-06 | 114 |
GO:00525481 | Colorectum | SER | regulation of endopeptidase activity | 103/2897 | 432/18723 | 2.86e-06 | 1.16e-04 | 103 |
GO:00109521 | Colorectum | SER | positive regulation of peptidase activity | 55/2897 | 197/18723 | 5.44e-06 | 2.00e-04 | 55 |
GO:00516041 | Colorectum | SER | protein maturation | 73/2897 | 294/18723 | 1.82e-05 | 5.38e-04 | 73 |
GO:00109501 | Colorectum | SER | positive regulation of endopeptidase activity | 47/2897 | 179/18723 | 1.32e-04 | 2.66e-03 | 47 |
GO:00164851 | Colorectum | SER | protein processing | 55/2897 | 225/18723 | 2.84e-04 | 4.67e-03 | 55 |
GO:00458622 | Colorectum | MSS | positive regulation of proteolysis | 119/3467 | 372/18723 | 2.14e-10 | 2.09e-08 | 119 |
GO:00525472 | Colorectum | MSS | regulation of peptidase activity | 130/3467 | 461/18723 | 1.81e-07 | 8.13e-06 | 130 |
GO:00109522 | Colorectum | MSS | positive regulation of peptidase activity | 63/3467 | 197/18723 | 3.65e-06 | 1.06e-04 | 63 |
GO:00525482 | Colorectum | MSS | regulation of endopeptidase activity | 117/3467 | 432/18723 | 6.25e-06 | 1.65e-04 | 117 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa05010 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050101 | Colorectum | AD | Alzheimer disease | 174/2092 | 384/8465 | 1.82e-19 | 9.26e-18 | 5.91e-18 | 174 |
hsa050102 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050103 | Colorectum | SER | Alzheimer disease | 146/1580 | 384/8465 | 6.52e-20 | 2.40e-18 | 1.75e-18 | 146 |
hsa050104 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050105 | Colorectum | MSS | Alzheimer disease | 169/1875 | 384/8465 | 1.21e-22 | 1.01e-20 | 6.21e-21 | 169 |
hsa050106 | Colorectum | MSI-H | Alzheimer disease | 91/797 | 384/8465 | 1.76e-17 | 6.41e-16 | 5.37e-16 | 91 |
hsa050107 | Colorectum | MSI-H | Alzheimer disease | 91/797 | 384/8465 | 1.76e-17 | 6.41e-16 | 5.37e-16 | 91 |
hsa0501030 | Esophagus | HGIN | Alzheimer disease | 130/1383 | 384/8465 | 5.26e-18 | 1.71e-16 | 1.36e-16 | 130 |
hsa05010113 | Esophagus | HGIN | Alzheimer disease | 130/1383 | 384/8465 | 5.26e-18 | 1.71e-16 | 1.36e-16 | 130 |
hsa05010210 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa043306 | Esophagus | ESCC | Notch signaling pathway | 42/4205 | 62/8465 | 2.97e-03 | 7.97e-03 | 4.08e-03 | 42 |
hsa0501038 | Esophagus | ESCC | Alzheimer disease | 263/4205 | 384/8465 | 1.80e-14 | 5.47e-13 | 2.80e-13 | 263 |
hsa0433013 | Esophagus | ESCC | Notch signaling pathway | 42/4205 | 62/8465 | 2.97e-03 | 7.97e-03 | 4.08e-03 | 42 |
hsa0501014 | Liver | Cirrhotic | Alzheimer disease | 180/2530 | 384/8465 | 5.52e-13 | 1.36e-11 | 8.36e-12 | 180 |
hsa0501015 | Liver | Cirrhotic | Alzheimer disease | 180/2530 | 384/8465 | 5.52e-13 | 1.36e-11 | 8.36e-12 | 180 |
hsa0501022 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
hsa0501032 | Liver | HCC | Alzheimer disease | 254/4020 | 384/8465 | 3.75e-14 | 8.97e-13 | 4.99e-13 | 254 |
hsa0501028 | Oral cavity | OSCC | Alzheimer disease | 244/3704 | 384/8465 | 1.18e-15 | 3.60e-14 | 1.83e-14 | 244 |
hsa043305 | Oral cavity | OSCC | Notch signaling pathway | 44/3704 | 62/8465 | 1.26e-05 | 5.55e-05 | 2.83e-05 | 44 |
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Cell-cell communication analysis |
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Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
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TF | Cell Type | Tissue | Disease Stage | Target Gene | RSS | Regulon Activity |
∗The dot plots of a searched regulon are shown for all cell subpopulations in each disease state of each tissue based on the regulon specific score inferred using pySCENIC and by calculating the average expression. |
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Somatic mutation of malignant transformation related genes |
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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 |
PSENEN | SNV | Missense_Mutation | rs758352978 | c.116N>A | p.Arg39Gln | p.R39Q | Q9NZ42 | protein_coding | tolerated(0.16) | benign(0.009) | TCGA-E2-A1LH-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
PSENEN | SNV | Missense_Mutation | novel | c.176N>A | p.Arg59His | p.R59H | Q9NZ42 | protein_coding | tolerated(0.54) | possibly_damaging(0.616) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
PSENEN | SNV | Missense_Mutation | novel | c.121N>C | p.Ala41Pro | p.A41P | Q9NZ42 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PSENEN | SNV | Missense_Mutation | rs201796315 | c.127N>T | p.Leu43Phe | p.L43F | Q9NZ42 | protein_coding | tolerated(0.7) | benign(0.007) | TCGA-AX-A2HD-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | III/IV | Unknown | Unknown | SD |
PSENEN | SNV | Missense_Mutation | novel | c.19N>C | p.Ser7Pro | p.S7P | Q9NZ42 | protein_coding | tolerated(1) | benign(0.007) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
PSENEN | SNV | Missense_Mutation | c.127C>G | p.Leu43Val | p.L43V | Q9NZ42 | protein_coding | tolerated(0.5) | benign(0.007) | TCGA-93-7347-01 | Lung | lung adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
PSENEN | SNV | Missense_Mutation | c.90G>T | p.Trp30Cys | p.W30C | Q9NZ42 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-70-6722-01 | Lung | lung squamous cell carcinoma | Male | <65 | III/IV | Unknown | Unknown | PD | |
PSENEN | SNV | Missense_Mutation | novel | c.236A>G | p.Gln79Arg | p.Q79R | Q9NZ42 | protein_coding | deleterious(0.01) | probably_damaging(0.982) | TCGA-77-7141-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PSENEN | SNV | Missense_Mutation | novel | c.61G>C | p.Gly21Arg | p.G21R | Q9NZ42 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-77-7465-01 | Lung | lung squamous cell carcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PSENEN | SNV | Missense_Mutation | novel | c.25N>A | p.Glu9Lys | p.E9K | Q9NZ42 | protein_coding | deleterious(0.03) | possibly_damaging(0.509) | TCGA-85-A4CL-01 | Lung | lung squamous cell carcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
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Related drugs of malignant transformation related genes |
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(DGIdb 4.0) |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
55851 | PSENEN | DRUGGABLE GENOME | inhibitor | RO 4929097 | ||
55851 | PSENEN | DRUGGABLE GENOME | inhibitor | CHEMBL1090771 | AVAGACESTAT | |
55851 | PSENEN | DRUGGABLE GENOME | BMS-299897 | CHEMBL247471 | ||
55851 | PSENEN | DRUGGABLE GENOME | LY-411575 | CHEMBL392068 | 23181502,19443228 | |
55851 | PSENEN | DRUGGABLE GENOME | inhibitor | PF03084014 | ||
55851 | PSENEN | DRUGGABLE GENOME | inhibitor | MK0752 | ||
55851 | PSENEN | DRUGGABLE GENOME | NIC5-15 | METHYLINOSITOL | ||
55851 | PSENEN | DRUGGABLE GENOME | GSI-136 | GSI-136 | ||
55851 | PSENEN | DRUGGABLE GENOME | SEMAGACESTAT | SEMAGACESTAT | 19443228 | |
55851 | PSENEN | DRUGGABLE GENOME | inhibitor | CHEMBL463981 | BEGACESTAT |
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