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Gene: PEF1 |
Gene summary for PEF1 |
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Gene information | Species | Human | Gene symbol | PEF1 | Gene ID | 553115 |
Gene name | penta-EF-hand domain containing 1 | |
Gene Alias | ABP32 | |
Cytomap | 1p35.2 | |
Gene Type | protein-coding | GO ID | GO:0001837 | UniProtAcc | Q9UBV8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
553115 | PEF1 | LZE4T | Human | Esophagus | ESCC | 3.27e-14 | 3.10e-01 | 0.0811 |
553115 | PEF1 | LZE7T | Human | Esophagus | ESCC | 7.58e-13 | 5.85e-01 | 0.0667 |
553115 | PEF1 | LZE8T | Human | Esophagus | ESCC | 1.41e-10 | 3.68e-01 | 0.067 |
553115 | PEF1 | LZE20T | Human | Esophagus | ESCC | 7.74e-09 | 3.95e-01 | 0.0662 |
553115 | PEF1 | LZE22T | Human | Esophagus | ESCC | 2.39e-05 | 7.16e-01 | 0.068 |
553115 | PEF1 | LZE24T | Human | Esophagus | ESCC | 6.59e-33 | 8.61e-01 | 0.0596 |
553115 | PEF1 | LZE21T | Human | Esophagus | ESCC | 1.44e-02 | 3.50e-01 | 0.0655 |
553115 | PEF1 | P1T-E | Human | Esophagus | ESCC | 2.07e-04 | 4.74e-01 | 0.0875 |
553115 | PEF1 | P2T-E | Human | Esophagus | ESCC | 1.24e-69 | 1.25e+00 | 0.1177 |
553115 | PEF1 | P4T-E | Human | Esophagus | ESCC | 1.35e-24 | 7.27e-01 | 0.1323 |
553115 | PEF1 | P5T-E | Human | Esophagus | ESCC | 1.97e-37 | 8.06e-01 | 0.1327 |
553115 | PEF1 | P8T-E | Human | Esophagus | ESCC | 8.38e-39 | 6.38e-01 | 0.0889 |
553115 | PEF1 | P9T-E | Human | Esophagus | ESCC | 6.06e-17 | 5.63e-01 | 0.1131 |
553115 | PEF1 | P10T-E | Human | Esophagus | ESCC | 3.41e-72 | 1.23e+00 | 0.116 |
553115 | PEF1 | P11T-E | Human | Esophagus | ESCC | 1.58e-24 | 1.09e+00 | 0.1426 |
553115 | PEF1 | P12T-E | Human | Esophagus | ESCC | 2.62e-41 | 8.32e-01 | 0.1122 |
553115 | PEF1 | P15T-E | Human | Esophagus | ESCC | 1.51e-47 | 1.06e+00 | 0.1149 |
553115 | PEF1 | P16T-E | Human | Esophagus | ESCC | 8.66e-28 | 6.18e-01 | 0.1153 |
553115 | PEF1 | P17T-E | Human | Esophagus | ESCC | 2.07e-19 | 8.88e-01 | 0.1278 |
553115 | PEF1 | P19T-E | Human | Esophagus | ESCC | 4.04e-15 | 1.29e+00 | 0.1662 |
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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). |
Page: 1 2 3 4 5 6 7 8 9 |
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GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004819318 | Esophagus | ESCC | Golgi vesicle transport | 231/8552 | 296/18723 | 1.82e-30 | 9.63e-28 | 231 |
GO:005165617 | Esophagus | ESCC | establishment of organelle localization | 273/8552 | 390/18723 | 9.13e-23 | 1.81e-20 | 273 |
GO:1903320111 | Esophagus | ESCC | regulation of protein modification by small protein conjugation or removal | 181/8552 | 242/18723 | 1.80e-20 | 2.60e-18 | 181 |
GO:001605014 | Esophagus | ESCC | vesicle organization | 211/8552 | 300/18723 | 2.85e-18 | 2.87e-16 | 211 |
GO:0031396111 | Esophagus | ESCC | regulation of protein ubiquitination | 154/8552 | 210/18723 | 2.70e-16 | 2.04e-14 | 154 |
GO:000688815 | Esophagus | ESCC | endoplasmic reticulum to Golgi vesicle-mediated transport | 102/8552 | 130/18723 | 1.73e-14 | 9.22e-13 | 102 |
GO:0006900111 | Esophagus | ESCC | vesicle budding from membrane | 54/8552 | 61/18723 | 2.66e-12 | 1.07e-10 | 54 |
GO:005165016 | Esophagus | ESCC | establishment of vesicle localization | 114/8552 | 161/18723 | 8.20e-11 | 2.53e-09 | 114 |
GO:190332216 | Esophagus | ESCC | positive regulation of protein modification by small protein conjugation or removal | 99/8552 | 138/18723 | 4.39e-10 | 1.16e-08 | 99 |
GO:005164815 | Esophagus | ESCC | vesicle localization | 119/8552 | 177/18723 | 5.16e-09 | 1.08e-07 | 119 |
GO:00065136 | Esophagus | ESCC | protein monoubiquitination | 53/8552 | 67/18723 | 2.11e-08 | 4.03e-07 | 53 |
GO:009011414 | Esophagus | ESCC | COPII-coated vesicle budding | 27/8552 | 29/18723 | 8.09e-08 | 1.39e-06 | 27 |
GO:00069038 | Esophagus | ESCC | vesicle targeting | 38/8552 | 45/18723 | 8.42e-08 | 1.43e-06 | 38 |
GO:003139816 | Esophagus | ESCC | positive regulation of protein ubiquitination | 82/8552 | 119/18723 | 2.41e-07 | 3.64e-06 | 82 |
GO:004819914 | Esophagus | ESCC | vesicle targeting, to, from or within Golgi | 19/8552 | 21/18723 | 2.28e-05 | 1.96e-04 | 19 |
GO:000690115 | Esophagus | ESCC | vesicle coating | 16/8552 | 17/18723 | 3.46e-05 | 2.82e-04 | 16 |
GO:001003827 | Esophagus | ESCC | response to metal ion | 208/8552 | 373/18723 | 5.02e-05 | 3.90e-04 | 208 |
GO:00488638 | Esophagus | ESCC | stem cell differentiation | 122/8552 | 206/18723 | 5.95e-05 | 4.59e-04 | 122 |
GO:00018378 | Esophagus | ESCC | epithelial to mesenchymal transition | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:00487628 | Esophagus | ESCC | mesenchymal cell differentiation | 133/8552 | 236/18723 | 5.94e-04 | 3.22e-03 | 133 |
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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 |
PEF1 | SNV | Missense_Mutation | c.388C>G | p.His130Asp | p.H130D | Q9UBV8 | protein_coding | tolerated(0.06) | possibly_damaging(0.482) | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD | |
PEF1 | SNV | Missense_Mutation | c.221C>G | p.Ser74Cys | p.S74C | Q9UBV8 | protein_coding | tolerated(0.07) | benign(0.171) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
PEF1 | SNV | Missense_Mutation | c.420G>T | p.Lys140Asn | p.K140N | Q9UBV8 | protein_coding | deleterious(0) | probably_damaging(0.969) | TCGA-AN-A0FN-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
PEF1 | SNV | Missense_Mutation | c.718N>G | p.Leu240Val | p.L240V | Q9UBV8 | protein_coding | deleterious(0.01) | probably_damaging(0.932) | TCGA-AR-A1AY-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unspecific | Doxorubicin | SD | |
PEF1 | SNV | Missense_Mutation | c.352G>A | p.Glu118Lys | p.E118K | Q9UBV8 | protein_coding | tolerated(0.09) | benign(0.334) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD | |
PEF1 | SNV | Missense_Mutation | rs745569188 | c.157G>A | p.Gly53Arg | p.G53R | Q9UBV8 | protein_coding | deleterious(0.04) | possibly_damaging(0.834) | TCGA-AD-6964-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | folfox | PD |
PEF1 | SNV | Missense_Mutation | c.664A>G | p.Thr222Ala | p.T222A | Q9UBV8 | protein_coding | tolerated(0.39) | benign(0.243) | TCGA-DM-A1HB-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Unknown | Unknown | SD | |
PEF1 | SNV | Missense_Mutation | rs759567297 | c.514G>A | p.Asp172Asn | p.D172N | Q9UBV8 | protein_coding | tolerated(0.17) | probably_damaging(0.968) | TCGA-F5-6814-01 | Colorectum | rectum adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
PEF1 | SNV | Missense_Mutation | novel | c.481N>G | p.Asn161Asp | p.N161D | Q9UBV8 | protein_coding | tolerated(0.11) | probably_damaging(0.921) | TCGA-A5-A0G1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
PEF1 | SNV | Missense_Mutation | rs763547860 | c.725G>A | p.Arg242His | p.R242H | Q9UBV8 | protein_coding | tolerated(0.11) | probably_damaging(0.928) | TCGA-AJ-A3NE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <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 |
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