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Gene: MFGE8 |
Gene summary for MFGE8 |
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Gene information | Species | Human | Gene symbol | MFGE8 | Gene ID | 4240 |
Gene name | milk fat globule EGF and factor V/VIII domain containing | |
Gene Alias | BA46 | |
Cytomap | 15q26.1 | |
Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q08431 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
4240 | MFGE8 | GSM4909282 | Human | Breast | IDC | 9.60e-31 | 6.30e-01 | -0.0288 |
4240 | MFGE8 | GSM4909285 | Human | Breast | IDC | 1.39e-05 | -4.40e-01 | 0.21 |
4240 | MFGE8 | GSM4909286 | Human | Breast | IDC | 2.29e-13 | 3.26e-01 | 0.1081 |
4240 | MFGE8 | GSM4909290 | Human | Breast | IDC | 5.11e-26 | -6.77e-01 | 0.2096 |
4240 | MFGE8 | GSM4909291 | Human | Breast | IDC | 1.29e-10 | -5.80e-01 | 0.1753 |
4240 | MFGE8 | GSM4909292 | Human | Breast | IDC | 5.59e-04 | -6.77e-01 | 0.1236 |
4240 | MFGE8 | GSM4909293 | Human | Breast | IDC | 1.32e-20 | -6.17e-01 | 0.1581 |
4240 | MFGE8 | GSM4909294 | Human | Breast | IDC | 1.00e-29 | -6.54e-01 | 0.2022 |
4240 | MFGE8 | GSM4909295 | Human | Breast | IDC | 2.09e-02 | 3.95e-01 | 0.0898 |
4240 | MFGE8 | GSM4909296 | Human | Breast | IDC | 1.83e-29 | -6.52e-01 | 0.1524 |
4240 | MFGE8 | GSM4909297 | Human | Breast | IDC | 1.50e-32 | -6.29e-01 | 0.1517 |
4240 | MFGE8 | GSM4909298 | Human | Breast | IDC | 1.99e-23 | -6.32e-01 | 0.1551 |
4240 | MFGE8 | GSM4909301 | Human | Breast | IDC | 5.88e-29 | -6.52e-01 | 0.1577 |
4240 | MFGE8 | GSM4909302 | Human | Breast | IDC | 2.09e-20 | -5.93e-01 | 0.1545 |
4240 | MFGE8 | GSM4909304 | Human | Breast | IDC | 1.19e-19 | -6.18e-01 | 0.1636 |
4240 | MFGE8 | GSM4909306 | Human | Breast | IDC | 3.39e-20 | -5.76e-01 | 0.1564 |
4240 | MFGE8 | GSM4909307 | Human | Breast | IDC | 1.18e-16 | -5.69e-01 | 0.1569 |
4240 | MFGE8 | GSM4909308 | Human | Breast | IDC | 4.51e-27 | -6.65e-01 | 0.158 |
4240 | MFGE8 | GSM4909311 | Human | Breast | IDC | 3.12e-25 | -5.73e-01 | 0.1534 |
4240 | MFGE8 | GSM4909312 | Human | Breast | IDC | 1.65e-35 | -6.72e-01 | 0.1552 |
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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:00507643 | Oral cavity | OSCC | regulation of phagocytosis | 48/7305 | 95/18723 | 1.47e-02 | 4.77e-02 | 48 |
GO:00080371 | Thyroid | HT | cell recognition | 31/1272 | 225/18723 | 1.35e-04 | 2.12e-03 | 31 |
GO:00069094 | Thyroid | HT | phagocytosis | 34/1272 | 308/18723 | 3.59e-03 | 2.73e-02 | 34 |
GO:00103244 | Thyroid | HT | membrane invagination | 19/1272 | 144/18723 | 4.08e-03 | 2.99e-02 | 19 |
GO:00990243 | Thyroid | HT | plasma membrane invagination | 18/1272 | 136/18723 | 4.93e-03 | 3.35e-02 | 18 |
GO:00069113 | Thyroid | HT | phagocytosis, engulfment | 17/1272 | 127/18723 | 5.51e-03 | 3.63e-02 | 17 |
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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 |
MFGE8 | SNV | Missense_Mutation | novel | c.256N>G | p.Ile86Val | p.I86V | Q08431 | protein_coding | deleterious(0.02) | benign(0.175) | TCGA-A5-A1OF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | rs780674687 | c.508G>A | p.Asp170Asn | p.D170N | Q08431 | protein_coding | tolerated(0.34) | benign(0.001) | TCGA-AJ-A5DW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | rs780674687 | c.508N>A | p.Asp170Asn | p.D170N | Q08431 | protein_coding | tolerated(0.34) | benign(0.001) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | rs758466373 | c.656N>A | p.Arg219His | p.R219H | Q08431 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | novel | c.671N>A | p.Gly224Asp | p.G224D | Q08431 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | novel | c.133N>A | p.Val45Met | p.V45M | Q08431 | protein_coding | tolerated_low_confidence(0.11) | benign(0.397) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | rs754732007 | c.1103N>A | p.Arg368His | p.R368H | Q08431 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | novel | c.759N>T | p.Lys253Asn | p.K253N | Q08431 | protein_coding | deleterious(0.04) | benign(0.028) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | rs769108892 | c.502N>A | p.Glu168Lys | p.E168K | Q08431 | protein_coding | tolerated(1) | benign(0) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MFGE8 | SNV | Missense_Mutation | rs780674687 | c.508N>A | p.Asp170Asn | p.D170N | Q08431 | protein_coding | tolerated(0.34) | benign(0.001) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | 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 |
4240 | MFGE8 | DRUGGABLE GENOME, EXTERNAL SIDE OF PLASMA MEMBRANE | TRIAB |
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