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Gene: MFAP5 |
Gene summary for MFAP5 |
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Gene information | Species | Human | Gene symbol | MFAP5 | Gene ID | 8076 |
Gene name | microfibril associated protein 5 | |
Gene Alias | AAT9 | |
Cytomap | 12p13.31 | |
Gene Type | protein-coding | GO ID | GO:0001654 | UniProtAcc | B3KW70 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
8076 | MFAP5 | LZE2T | Human | Esophagus | ESCC | 6.22e-24 | 4.97e-01 | 0.082 |
8076 | MFAP5 | LZE8T | Human | Esophagus | ESCC | 1.50e-20 | -2.77e-01 | 0.067 |
8076 | MFAP5 | LZE20T | Human | Esophagus | ESCC | 3.46e-03 | -4.33e-01 | 0.0662 |
8076 | MFAP5 | LZE24T | Human | Esophagus | ESCC | 5.00e-06 | -4.33e-01 | 0.0596 |
8076 | MFAP5 | P2T-E | Human | Esophagus | ESCC | 8.56e-12 | -4.03e-01 | 0.1177 |
8076 | MFAP5 | P8T-E | Human | Esophagus | ESCC | 1.32e-02 | -1.68e-01 | 0.0889 |
8076 | MFAP5 | P10T-E | Human | Esophagus | ESCC | 5.44e-04 | -2.96e-01 | 0.116 |
8076 | MFAP5 | P11T-E | Human | Esophagus | ESCC | 4.84e-02 | -3.99e-01 | 0.1426 |
8076 | MFAP5 | P12T-E | Human | Esophagus | ESCC | 1.33e-09 | -4.26e-01 | 0.1122 |
8076 | MFAP5 | P15T-E | Human | Esophagus | ESCC | 1.58e-05 | -2.47e-01 | 0.1149 |
8076 | MFAP5 | P16T-E | Human | Esophagus | ESCC | 9.02e-11 | -4.33e-01 | 0.1153 |
8076 | MFAP5 | P20T-E | Human | Esophagus | ESCC | 1.62e-03 | -3.91e-01 | 0.1124 |
8076 | MFAP5 | P21T-E | Human | Esophagus | ESCC | 1.08e-10 | -4.06e-01 | 0.1617 |
8076 | MFAP5 | P23T-E | Human | Esophagus | ESCC | 3.33e-05 | -4.25e-01 | 0.108 |
8076 | MFAP5 | P24T-E | Human | Esophagus | ESCC | 3.98e-08 | -4.11e-01 | 0.1287 |
8076 | MFAP5 | P26T-E | Human | Esophagus | ESCC | 7.53e-09 | -4.12e-01 | 0.1276 |
8076 | MFAP5 | P27T-E | Human | Esophagus | ESCC | 3.86e-06 | -3.80e-01 | 0.1055 |
8076 | MFAP5 | P28T-E | Human | Esophagus | ESCC | 7.01e-11 | -4.24e-01 | 0.1149 |
8076 | MFAP5 | P30T-E | Human | Esophagus | ESCC | 1.11e-04 | 6.79e-01 | 0.137 |
8076 | MFAP5 | P32T-E | Human | Esophagus | ESCC | 1.35e-03 | -3.54e-01 | 0.1666 |
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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:00485687 | Esophagus | ESCC | embryonic organ development | 228/8552 | 427/18723 | 7.28e-04 | 3.79e-03 | 228 |
GO:01500631 | Oral cavity | NEOLP | visual system development | 70/2005 | 375/18723 | 2.46e-06 | 5.64e-05 | 70 |
GO:000165411 | Oral cavity | NEOLP | eye development | 69/2005 | 371/18723 | 3.30e-06 | 7.40e-05 | 69 |
GO:00488801 | Oral cavity | NEOLP | sensory system development | 70/2005 | 381/18723 | 4.38e-06 | 9.42e-05 | 70 |
GO:00485686 | Oral cavity | NEOLP | embryonic organ development | 71/2005 | 427/18723 | 1.12e-04 | 1.34e-03 | 71 |
GO:00485921 | Oral cavity | NEOLP | eye morphogenesis | 26/2005 | 151/18723 | 9.93e-03 | 4.65e-02 | 26 |
GO:00485688 | Thyroid | ATC | embryonic organ development | 172/6293 | 427/18723 | 2.08e-03 | 9.84e-03 | 172 |
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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 |
MFAP5 | SNV | Missense_Mutation | c.316N>A | p.His106Asn | p.H106N | Q13361 | protein_coding | tolerated(0.55) | probably_damaging(0.928) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
MFAP5 | SNV | Missense_Mutation | c.316N>T | p.His106Tyr | p.H106Y | Q13361 | protein_coding | deleterious(0.02) | benign(0.063) | TCGA-AR-A2LE-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | PD | |
MFAP5 | SNV | Missense_Mutation | c.316C>T | p.His106Tyr | p.H106Y | Q13361 | protein_coding | deleterious(0.02) | benign(0.063) | TCGA-E2-A1LA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD | |
MFAP5 | SNV | Missense_Mutation | rs753275305 | c.5N>T | p.Ser2Leu | p.S2L | Q13361 | protein_coding | tolerated(1) | benign(0) | TCGA-E9-A295-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
MFAP5 | SNV | Missense_Mutation | c.133N>T | p.Asp45Tyr | p.D45Y | Q13361 | protein_coding | deleterious(0) | probably_damaging(0.977) | TCGA-AA-3818-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
MFAP5 | SNV | Missense_Mutation | rs768885285 | c.458N>A | p.Arg153His | p.R153H | Q13361 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR |
MFAP5 | SNV | Missense_Mutation | c.292N>A | p.His98Asn | p.H98N | Q13361 | protein_coding | deleterious(0.04) | benign(0.423) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
MFAP5 | SNV | Missense_Mutation | c.94N>T | p.Asp32Tyr | p.D32Y | Q13361 | protein_coding | deleterious(0) | probably_damaging(0.946) | TCGA-AA-A010-01 | Colorectum | colon adenocarcinoma | Female | <65 | I/II | Chemotherapy | folinic | CR | |
MFAP5 | SNV | Missense_Mutation | rs765205871 | c.454N>T | p.Arg152Cys | p.R152C | Q13361 | protein_coding | deleterious(0) | possibly_damaging(0.791) | TCGA-AD-6901-01 | Colorectum | colon adenocarcinoma | Male | >=65 | I/II | Chemotherapy | xeloda | PD |
MFAP5 | SNV | Missense_Mutation | rs753225796 | c.299N>T | p.Pro100Leu | p.P100L | Q13361 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | 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 |
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