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Gene: MBTPS1 |
Gene summary for MBTPS1 |
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Gene information | Species | Human | Gene symbol | MBTPS1 | Gene ID | 8720 |
Gene name | membrane bound transcription factor peptidase, site 1 | |
Gene Alias | PCSK8 | |
Cytomap | 16q23.3-q24.1 | |
Gene Type | protein-coding | GO ID | GO:0006066 | UniProtAcc | Q14703 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
8720 | MBTPS1 | LZE2T | Human | Esophagus | ESCC | 7.30e-07 | 5.28e-01 | 0.082 |
8720 | MBTPS1 | LZE4T | Human | Esophagus | ESCC | 4.87e-12 | 4.07e-01 | 0.0811 |
8720 | MBTPS1 | LZE7T | Human | Esophagus | ESCC | 5.54e-09 | 6.50e-01 | 0.0667 |
8720 | MBTPS1 | LZE22D1 | Human | Esophagus | HGIN | 7.41e-03 | 2.86e-01 | 0.0595 |
8720 | MBTPS1 | LZE24T | Human | Esophagus | ESCC | 6.61e-14 | 5.00e-01 | 0.0596 |
8720 | MBTPS1 | P1T-E | Human | Esophagus | ESCC | 5.36e-11 | 5.73e-01 | 0.0875 |
8720 | MBTPS1 | P2T-E | Human | Esophagus | ESCC | 2.93e-21 | 2.95e-01 | 0.1177 |
8720 | MBTPS1 | P4T-E | Human | Esophagus | ESCC | 7.27e-15 | 3.79e-01 | 0.1323 |
8720 | MBTPS1 | P5T-E | Human | Esophagus | ESCC | 7.04e-15 | 1.43e-01 | 0.1327 |
8720 | MBTPS1 | P8T-E | Human | Esophagus | ESCC | 7.84e-45 | 8.57e-01 | 0.0889 |
8720 | MBTPS1 | P9T-E | Human | Esophagus | ESCC | 8.28e-05 | 1.73e-01 | 0.1131 |
8720 | MBTPS1 | P10T-E | Human | Esophagus | ESCC | 1.96e-22 | 3.92e-01 | 0.116 |
8720 | MBTPS1 | P11T-E | Human | Esophagus | ESCC | 1.75e-11 | 6.54e-01 | 0.1426 |
8720 | MBTPS1 | P12T-E | Human | Esophagus | ESCC | 2.01e-19 | 3.00e-01 | 0.1122 |
8720 | MBTPS1 | P15T-E | Human | Esophagus | ESCC | 3.13e-17 | 5.42e-01 | 0.1149 |
8720 | MBTPS1 | P16T-E | Human | Esophagus | ESCC | 5.32e-25 | 3.84e-01 | 0.1153 |
8720 | MBTPS1 | P17T-E | Human | Esophagus | ESCC | 8.10e-07 | 4.98e-01 | 0.1278 |
8720 | MBTPS1 | P20T-E | Human | Esophagus | ESCC | 1.40e-14 | 4.09e-01 | 0.1124 |
8720 | MBTPS1 | P21T-E | Human | Esophagus | ESCC | 7.85e-22 | 5.16e-01 | 0.1617 |
8720 | MBTPS1 | P22T-E | Human | Esophagus | ESCC | 1.28e-32 | 5.35e-01 | 0.1236 |
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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:003497625 | Esophagus | HGIN | response to endoplasmic reticulum stress | 81/2587 | 256/18723 | 1.47e-13 | 2.32e-11 | 81 |
GO:003596625 | Esophagus | HGIN | response to topologically incorrect protein | 54/2587 | 159/18723 | 8.53e-11 | 8.89e-09 | 54 |
GO:000698625 | Esophagus | HGIN | response to unfolded protein | 48/2587 | 137/18723 | 2.80e-10 | 2.54e-08 | 48 |
GO:003596725 | Esophagus | HGIN | cellular response to topologically incorrect protein | 41/2587 | 116/18723 | 4.07e-09 | 2.84e-07 | 41 |
GO:003462020 | Esophagus | HGIN | cellular response to unfolded protein | 36/2587 | 96/18723 | 5.82e-09 | 3.88e-07 | 36 |
GO:000698410 | Esophagus | HGIN | ER-nucleus signaling pathway | 19/2587 | 46/18723 | 4.28e-06 | 1.41e-04 | 19 |
GO:003096817 | Esophagus | HGIN | endoplasmic reticulum unfolded protein response | 24/2587 | 74/18723 | 3.39e-05 | 8.61e-04 | 24 |
GO:00070336 | Esophagus | HGIN | vacuole organization | 44/2587 | 180/18723 | 8.97e-05 | 1.96e-03 | 44 |
GO:0034976111 | Esophagus | ESCC | response to endoplasmic reticulum stress | 192/8552 | 256/18723 | 7.15e-22 | 1.30e-19 | 192 |
GO:0035966111 | Esophagus | ESCC | response to topologically incorrect protein | 125/8552 | 159/18723 | 1.44e-17 | 1.27e-15 | 125 |
GO:0006986111 | Esophagus | ESCC | response to unfolded protein | 107/8552 | 137/18723 | 7.01e-15 | 3.87e-13 | 107 |
GO:0035967111 | Esophagus | ESCC | cellular response to topologically incorrect protein | 90/8552 | 116/18723 | 1.94e-12 | 8.11e-11 | 90 |
GO:000703314 | Esophagus | ESCC | vacuole organization | 127/8552 | 180/18723 | 1.04e-11 | 3.85e-10 | 127 |
GO:0034620111 | Esophagus | ESCC | cellular response to unfolded protein | 74/8552 | 96/18723 | 3.10e-10 | 8.66e-09 | 74 |
GO:003096818 | Esophagus | ESCC | endoplasmic reticulum unfolded protein response | 59/8552 | 74/18723 | 1.90e-09 | 4.36e-08 | 59 |
GO:000698416 | Esophagus | ESCC | ER-nucleus signaling pathway | 38/8552 | 46/18723 | 2.70e-07 | 4.00e-06 | 38 |
GO:00070403 | Esophagus | ESCC | lysosome organization | 53/8552 | 74/18723 | 5.34e-06 | 5.57e-05 | 53 |
GO:00801713 | Esophagus | ESCC | lytic vacuole organization | 53/8552 | 74/18723 | 5.34e-06 | 5.57e-05 | 53 |
GO:00060668 | Esophagus | ESCC | alcohol metabolic process | 202/8552 | 353/18723 | 7.32e-06 | 7.26e-05 | 202 |
GO:00161263 | Esophagus | ESCC | sterol biosynthetic process | 46/8552 | 64/18723 | 1.91e-05 | 1.67e-04 | 46 |
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Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
hsa0414139 | Esophagus | HGIN | Protein processing in endoplasmic reticulum | 67/1383 | 174/8465 | 1.06e-12 | 2.16e-11 | 1.72e-11 | 67 |
hsa04141114 | Esophagus | HGIN | Protein processing in endoplasmic reticulum | 67/1383 | 174/8465 | 1.06e-12 | 2.16e-11 | 1.72e-11 | 67 |
hsa04141211 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa04141310 | Esophagus | ESCC | Protein processing in endoplasmic reticulum | 147/4205 | 174/8465 | 3.29e-22 | 1.10e-19 | 5.64e-20 | 147 |
hsa0414114 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa0414115 | Liver | Cirrhotic | Protein processing in endoplasmic reticulum | 114/2530 | 174/8465 | 1.16e-22 | 9.67e-21 | 5.96e-21 | 114 |
hsa0414122 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414132 | Liver | HCC | Protein processing in endoplasmic reticulum | 146/4020 | 174/8465 | 7.34e-24 | 2.46e-21 | 1.37e-21 | 146 |
hsa0414130 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa04141113 | Oral cavity | OSCC | Protein processing in endoplasmic reticulum | 143/3704 | 174/8465 | 6.82e-26 | 2.28e-23 | 1.16e-23 | 143 |
hsa04141210 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
hsa0414138 | Oral cavity | LP | Protein processing in endoplasmic reticulum | 113/2418 | 174/8465 | 8.74e-24 | 5.82e-22 | 3.76e-22 | 113 |
hsa0414128 | Prostate | BPH | Protein processing in endoplasmic reticulum | 97/1718 | 174/8465 | 2.37e-25 | 1.30e-23 | 8.07e-24 | 97 |
hsa04141112 | Prostate | BPH | Protein processing in endoplasmic reticulum | 97/1718 | 174/8465 | 2.37e-25 | 1.30e-23 | 8.07e-24 | 97 |
hsa0414129 | Prostate | Tumor | Protein processing in endoplasmic reticulum | 99/1791 | 174/8465 | 2.58e-25 | 1.71e-23 | 1.06e-23 | 99 |
hsa0414137 | Prostate | Tumor | Protein processing in endoplasmic reticulum | 99/1791 | 174/8465 | 2.58e-25 | 1.71e-23 | 1.06e-23 | 99 |
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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 |
MBTPS1 | SNV | Missense_Mutation | rs748969675 | c.2251N>A | p.Gly751Arg | p.G751R | Q14703 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-BR-4292-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MBTPS1 | SNV | Missense_Mutation | c.2179N>C | p.Tyr727His | p.Y727H | Q14703 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-BR-6452-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MBTPS1 | SNV | Missense_Mutation | c.848T>C | p.Val283Ala | p.V283A | Q14703 | protein_coding | deleterious(0) | possibly_damaging(0.723) | TCGA-BR-8372-01 | Stomach | stomach adenocarcinoma | Male | <65 | III/IV | Chemotherapy | etoposide | CR | |
MBTPS1 | SNV | Missense_Mutation | c.538C>T | p.His180Tyr | p.H180Y | Q14703 | protein_coding | tolerated(0.31) | benign(0.001) | TCGA-BR-A4QL-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | xeloda | CR | |
MBTPS1 | SNV | Missense_Mutation | c.749N>C | p.Gly250Ala | p.G250A | Q14703 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-CD-A48A-01 | Stomach | stomach adenocarcinoma | Male | <65 | I/II | Chemotherapy | capecitabine | CR | |
MBTPS1 | SNV | Missense_Mutation | rs149564178 | c.800N>T | p.Ala267Val | p.A267V | Q14703 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-CG-4442-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MBTPS1 | SNV | Missense_Mutation | c.2525N>C | p.Val842Ala | p.V842A | Q14703 | protein_coding | tolerated(1) | benign(0.003) | TCGA-CG-5726-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD | |
MBTPS1 | SNV | Missense_Mutation | c.293C>A | p.Pro98His | p.P98H | Q14703 | protein_coding | deleterious(0) | probably_damaging(0.987) | TCGA-HU-A4G8-01 | Stomach | stomach adenocarcinoma | Female | >=65 | I/II | Chemotherapy | 5-fluorouracil | SD | |
MBTPS1 | SNV | Missense_Mutation | rs375432685 | c.874N>A | p.Ala292Thr | p.A292T | Q14703 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-HU-A4GU-01 | Stomach | stomach adenocarcinoma | Male | >=65 | I/II | Unknown | Unknown | SD |
MBTPS1 | SNV | Missense_Mutation | novel | c.859N>G | p.Ser287Ala | p.S287A | Q14703 | protein_coding | deleterious(0.02) | probably_damaging(1) | TCGA-VQ-A91E-01 | Stomach | stomach adenocarcinoma | Female | >=65 | III/IV | Chemotherapy | fluorouracil | CR |
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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 |
8720 | MBTPS1 | ENZYME, TRANSCRIPTION FACTOR, DRUGGABLE GENOME, PROTEASE | inhibitor | 252827485 |
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