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Gene: FLG2 |
Gene summary for FLG2 |
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Gene information | Species | Human | Gene symbol | FLG2 | Gene ID | 388698 |
Gene name | filaggrin family member 2 | |
Gene Alias | IFPS | |
Cytomap | 1q21.3 | |
Gene Type | protein-coding | GO ID | GO:0002009 | UniProtAcc | Q5D862 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
388698 | FLG2 | HCC1 | Human | Liver | HCC | 1.73e-10 | 1.15e+00 | 0.5336 |
388698 | FLG2 | HCC2 | Human | Liver | HCC | 3.58e-20 | 1.18e+00 | 0.5341 |
388698 | FLG2 | HCC5 | Human | Liver | HCC | 3.79e-21 | 1.18e+00 | 0.4932 |
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Tissue | Expression Dynamics | Abbreviation |
Liver | ![]() | HCC: Hepatocellular carcinoma |
NAFLD: Non-alcoholic fatty liver disease |
∗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:005087822 | Liver | HCC | regulation of body fluid levels | 191/7958 | 379/18723 | 1.06e-03 | 6.11e-03 | 191 |
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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 |
FLG2 | SNV | Missense_Mutation | c.4447N>A | p.His1483Asn | p.H1483N | Q5D862 | protein_coding | tolerated(0.09) | benign(0.017) | TCGA-BS-A0UF-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
FLG2 | SNV | Missense_Mutation | c.4025N>T | p.Arg1342Ile | p.R1342I | Q5D862 | protein_coding | deleterious(0) | probably_damaging(0.936) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | |
FLG2 | SNV | Missense_Mutation | novel | c.3907N>C | p.Ser1303Pro | p.S1303P | Q5D862 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-D1-A102-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FLG2 | SNV | Missense_Mutation | rs781257142 | c.3567C>A | p.Phe1189Leu | p.F1189L | Q5D862 | protein_coding | tolerated(0.7) | benign(0) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FLG2 | SNV | Missense_Mutation | rs371756979 | c.2594N>T | p.Ser865Leu | p.S865L | Q5D862 | protein_coding | tolerated(0.06) | possibly_damaging(0.748) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
FLG2 | SNV | Missense_Mutation | novel | c.709N>T | p.His237Tyr | p.H237Y | Q5D862 | protein_coding | deleterious(0) | possibly_damaging(0.795) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
FLG2 | SNV | Missense_Mutation | novel | c.3536N>G | p.Phe1179Cys | p.F1179C | Q5D862 | protein_coding | tolerated(0.06) | benign(0.007) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FLG2 | SNV | Missense_Mutation | novel | c.2744N>A | p.Ser915Tyr | p.S915Y | Q5D862 | protein_coding | deleterious(0) | benign(0.011) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
FLG2 | SNV | Missense_Mutation | c.1661N>T | p.Ser554Phe | p.S554F | Q5D862 | protein_coding | deleterious(0) | probably_damaging(0.94) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | |
FLG2 | SNV | Missense_Mutation | novel | c.1930N>A | p.Gln644Lys | p.Q644K | Q5D862 | protein_coding | tolerated(0.11) | benign(0.117) | TCGA-E6-A2P8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
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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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