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Gene: FBN2 |
Gene summary for FBN2 |
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Gene information | Species | Human | Gene symbol | FBN2 | Gene ID | 2201 |
Gene name | fibrillin 2 | |
Gene Alias | CCA | |
Cytomap | 5q23.3 | |
Gene Type | protein-coding | GO ID | GO:0001501 | UniProtAcc | P35556 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
2201 | FBN2 | LZE7T | Human | Esophagus | ESCC | 6.19e-05 | 4.16e-01 | 0.0667 |
2201 | FBN2 | P9T-E | Human | Esophagus | ESCC | 3.49e-19 | 6.02e-01 | 0.1131 |
2201 | FBN2 | P10T-E | Human | Esophagus | ESCC | 1.15e-23 | 5.76e-01 | 0.116 |
2201 | FBN2 | P12T-E | Human | Esophagus | ESCC | 1.77e-15 | 5.53e-01 | 0.1122 |
2201 | FBN2 | P15T-E | Human | Esophagus | ESCC | 8.30e-04 | 1.94e-01 | 0.1149 |
2201 | FBN2 | P16T-E | Human | Esophagus | ESCC | 6.34e-08 | 1.29e-01 | 0.1153 |
2201 | FBN2 | P22T-E | Human | Esophagus | ESCC | 1.98e-07 | 2.69e-01 | 0.1236 |
2201 | FBN2 | P28T-E | Human | Esophagus | ESCC | 4.10e-14 | 5.12e-01 | 0.1149 |
2201 | FBN2 | P30T-E | Human | Esophagus | ESCC | 2.66e-21 | 1.31e+00 | 0.137 |
2201 | FBN2 | P49T-E | Human | Esophagus | ESCC | 4.57e-04 | 7.98e-01 | 0.1768 |
2201 | FBN2 | P52T-E | Human | Esophagus | ESCC | 1.59e-09 | 3.38e-01 | 0.1555 |
2201 | FBN2 | P65T-E | Human | Esophagus | ESCC | 3.59e-03 | 1.06e-01 | 0.0978 |
2201 | FBN2 | P75T-E | Human | Esophagus | ESCC | 1.18e-03 | 8.29e-02 | 0.1125 |
2201 | FBN2 | P79T-E | Human | Esophagus | ESCC | 2.47e-06 | 2.07e-01 | 0.1154 |
2201 | FBN2 | male-WTA | Human | Thyroid | PTC | 7.24e-07 | 8.79e-02 | 0.1037 |
2201 | FBN2 | ATC09 | Human | Thyroid | ATC | 1.32e-08 | 4.01e-01 | 0.2871 |
2201 | FBN2 | ATC13 | Human | Thyroid | ATC | 6.74e-62 | 1.21e+00 | 0.34 |
2201 | FBN2 | ATC1 | Human | Thyroid | ATC | 1.27e-07 | 4.76e-01 | 0.2878 |
2201 | FBN2 | ATC2 | Human | Thyroid | ATC | 1.31e-13 | 1.01e+00 | 0.34 |
2201 | FBN2 | ATC5 | Human | Thyroid | ATC | 1.22e-72 | 1.29e+00 | 0.34 |
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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:01101492 | Thyroid | ATC | regulation of biomineralization | 45/6293 | 99/18723 | 9.34e-03 | 3.44e-02 | 45 |
GO:00701672 | Thyroid | ATC | regulation of biomineral tissue development | 44/6293 | 97/18723 | 1.05e-02 | 3.81e-02 | 44 |
GO:00613831 | Thyroid | ATC | trabecula morphogenesis | 22/6293 | 43/18723 | 1.30e-02 | 4.55e-02 | 22 |
GO:0030500 | Thyroid | ATC | regulation of bone mineralization | 36/6293 | 78/18723 | 1.43e-02 | 4.92e-02 | 36 |
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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 |
FBN2 | SNV | Missense_Mutation | rs150735582 | c.2480N>A | p.Arg827Gln | p.R827Q | P35556 | protein_coding | tolerated(0.1) | probably_damaging(0.992) | TCGA-A2-A0EY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
FBN2 | SNV | Missense_Mutation | c.533N>A | p.Pro178His | p.P178H | P35556 | protein_coding | deleterious(0.02) | probably_damaging(0.996) | TCGA-A2-A0SV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Other, specify in notesBisphosphonate therapy | zometa | PD | |
FBN2 | SNV | Missense_Mutation | rs563228953 | c.1180N>T | p.Arg394Cys | p.R394C | P35556 | protein_coding | deleterious(0) | possibly_damaging(0.873) | TCGA-A8-A0A7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FBN2 | SNV | Missense_Mutation | c.7477N>C | p.Asp2493His | p.D2493H | P35556 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
FBN2 | SNV | Missense_Mutation | c.3226N>A | p.Glu1076Lys | p.E1076K | P35556 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD | |
FBN2 | SNV | Missense_Mutation | c.1733A>G | p.Glu578Gly | p.E578G | P35556 | protein_coding | deleterious(0) | probably_damaging(0.988) | TCGA-AN-A0AK-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FBN2 | SNV | Missense_Mutation | novel | c.3034N>C | p.Cys1012Arg | p.C1012R | P35556 | protein_coding | deleterious(0) | benign(0.026) | TCGA-BH-A0EB-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | arimidex | SD |
FBN2 | SNV | Missense_Mutation | c.2771N>A | p.Leu924His | p.L924H | P35556 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-C8-A12K-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FBN2 | SNV | Missense_Mutation | c.7580N>T | p.Gly2527Val | p.G2527V | P35556 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-C8-A27B-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | 5-fluorouracil | CR | |
FBN2 | SNV | Missense_Mutation | c.1858N>A | p.Glu620Lys | p.E620K | P35556 | protein_coding | deleterious(0.02) | probably_damaging(0.987) | TCGA-D8-A27G-01 | Breast | breast invasive 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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