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Gene: GSAP |
Gene summary for GSAP |
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Gene information | Species | Human | Gene symbol | GSAP | Gene ID | 54103 |
Gene name | gamma-secretase activating protein | |
Gene Alias | PION | |
Cytomap | 7q11.23 | |
Gene Type | protein-coding | GO ID | GO:0006508 | UniProtAcc | A4D1B5 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
54103 | GSAP | RNA-P25T1-P25T1-1 | Human | Lung | AIS | 7.77e-12 | 5.64e-01 | -0.2116 |
54103 | GSAP | RNA-P25T1-P25T1-2 | Human | Lung | AIS | 1.06e-06 | 7.32e-01 | -0.1941 |
54103 | GSAP | RNA-P25T1-P25T1-3 | Human | Lung | AIS | 1.03e-04 | 6.38e-01 | -0.2107 |
54103 | GSAP | RNA-P25T1-P25T1-4 | Human | Lung | AIS | 2.79e-09 | 5.59e-01 | -0.2119 |
54103 | GSAP | RNA-P6T2-P6T2-1 | Human | Lung | IAC | 1.46e-22 | 7.12e-01 | -0.0166 |
54103 | GSAP | RNA-P6T2-P6T2-2 | Human | Lung | IAC | 1.68e-20 | 6.76e-01 | -0.0132 |
54103 | GSAP | RNA-P6T2-P6T2-3 | Human | Lung | IAC | 2.87e-28 | 7.25e-01 | -0.013 |
54103 | GSAP | RNA-P6T2-P6T2-4 | Human | Lung | IAC | 1.48e-16 | 6.08e-01 | -0.0121 |
54103 | GSAP | C21 | Human | Oral cavity | OSCC | 8.80e-20 | 5.09e-01 | 0.2678 |
54103 | GSAP | C38 | Human | Oral cavity | OSCC | 1.04e-04 | 4.69e-01 | 0.172 |
54103 | GSAP | C46 | Human | Oral cavity | OSCC | 1.26e-17 | 3.95e-01 | 0.1673 |
54103 | GSAP | C08 | Human | Oral cavity | OSCC | 1.42e-09 | 2.36e-01 | 0.1919 |
54103 | GSAP | LN46 | Human | Oral cavity | OSCC | 5.13e-12 | 5.14e-01 | 0.1666 |
54103 | GSAP | HTA12-23-1 | Human | Pancreas | PDAC | 1.57e-02 | 4.56e-01 | 0.3405 |
54103 | GSAP | HTA12-26-1 | Human | Pancreas | PDAC | 2.11e-14 | 6.70e-01 | 0.3728 |
54103 | GSAP | HTA12-29-1 | Human | Pancreas | PDAC | 2.35e-21 | 5.28e-01 | 0.3722 |
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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:00342508 | Lung | IAC | positive regulation of cellular amide metabolic process | 34/2061 | 162/18723 | 1.55e-04 | 2.82e-03 | 34 |
GO:003425013 | Lung | AIS | positive regulation of cellular amide metabolic process | 31/1849 | 162/18723 | 2.41e-04 | 4.78e-03 | 31 |
GO:003425019 | Oral cavity | OSCC | positive regulation of cellular amide metabolic process | 115/7305 | 162/18723 | 1.28e-16 | 1.05e-14 | 115 |
GO:00429873 | Oral cavity | OSCC | amyloid precursor protein catabolic process | 40/7305 | 68/18723 | 7.28e-04 | 3.98e-03 | 40 |
GO:00429823 | Oral cavity | OSCC | amyloid precursor protein metabolic process | 52/7305 | 95/18723 | 1.33e-03 | 6.62e-03 | 52 |
GO:00504353 | Oral cavity | OSCC | amyloid-beta metabolic process | 36/7305 | 67/18723 | 1.01e-02 | 3.51e-02 | 36 |
GO:00342052 | Oral cavity | OSCC | amyloid-beta formation | 31/7305 | 57/18723 | 1.32e-02 | 4.38e-02 | 31 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
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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 |
GSAP | insertion | Frame_Shift_Ins | novel | c.386_387insTT | p.Leu129PhefsTer12 | p.L129Ffs*12 | A4D1B5 | protein_coding | TCGA-E9-A1NA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cyclophosphamide | SD | ||
GSAP | SNV | Missense_Mutation | c.566N>T | p.Gly189Val | p.G189V | A4D1B5 | protein_coding | deleterious(0.02) | probably_damaging(0.931) | TCGA-DS-A0VM-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | PD | |
GSAP | SNV | Missense_Mutation | c.1853N>C | p.Phe618Ser | p.F618S | A4D1B5 | protein_coding | deleterious(0) | benign(0.093) | TCGA-AA-A02R-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
GSAP | SNV | Missense_Mutation | rs781694106 | c.1726N>A | p.Ala576Thr | p.A576T | A4D1B5 | protein_coding | tolerated(0.38) | probably_damaging(0.998) | TCGA-AD-5900-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
GSAP | SNV | Missense_Mutation | novel | c.899A>C | p.Lys300Thr | p.K300T | A4D1B5 | protein_coding | tolerated(0.39) | benign(0.003) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
GSAP | SNV | Missense_Mutation | novel | c.460C>A | p.Leu154Ile | p.L154I | A4D1B5 | protein_coding | deleterious(0) | probably_damaging(0.951) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
GSAP | SNV | Missense_Mutation | rs754726153 | c.2378N>A | p.Arg793Gln | p.R793Q | A4D1B5 | protein_coding | tolerated(0.62) | benign(0.005) | TCGA-CM-6171-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GSAP | SNV | Missense_Mutation | novel | c.827A>C | p.Lys276Thr | p.K276T | A4D1B5 | protein_coding | tolerated(0.43) | benign(0.005) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GSAP | SNV | Missense_Mutation | novel | c.238A>C | p.Asn80His | p.N80H | A4D1B5 | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
GSAP | SNV | Missense_Mutation | novel | c.2226G>T | p.Glu742Asp | p.E742D | A4D1B5 | protein_coding | tolerated(0.2) | benign(0.28) | TCGA-A5-A0G2-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | 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 |
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