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Gene: HFE2 |
Gene summary for HFE2 |
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Gene information | Species | Human | Gene symbol | HFE2 | Gene ID | 148738 |
Gene name | hemojuvelin BMP co-receptor | |
Gene Alias | HFE2 | |
Cytomap | 1q21.1 | |
Gene Type | protein-coding | GO ID | GO:0000122 | UniProtAcc | Q6ZVN8 |
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Malignant transformation analysis |
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Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
148738 | HFE2 | HCC1_Meng | Human | Liver | HCC | 5.56e-75 | 1.64e-01 | 0.0246 |
148738 | HFE2 | HCC1 | Human | Liver | HCC | 4.61e-22 | 3.60e+00 | 0.5336 |
148738 | HFE2 | HCC2 | Human | Liver | HCC | 6.69e-36 | 3.98e+00 | 0.5341 |
148738 | HFE2 | Pt13.a | Human | Liver | HCC | 7.47e-10 | 1.84e-01 | 0.021 |
148738 | HFE2 | Pt13.b | Human | Liver | HCC | 4.02e-16 | 2.17e-01 | 0.0251 |
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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 |
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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 |
HFE2 | SNV | Missense_Mutation | novel | c.1204G>T | p.Gly402Trp | p.G402W | Q6ZVN8 | protein_coding | deleterious(0) | benign(0.362) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
HFE2 | SNV | Missense_Mutation | c.1044G>T | p.Lys348Asn | p.K348N | Q6ZVN8 | protein_coding | deleterious(0.04) | probably_damaging(0.966) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HFE2 | SNV | Missense_Mutation | c.345N>G | p.Ile115Met | p.I115M | Q6ZVN8 | protein_coding | tolerated(0.05) | possibly_damaging(0.694) | TCGA-E2-A14W-01 | Breast | breast invasive carcinoma | Male | >=65 | I/II | Chemotherapy | cytoxan | SD | |
HFE2 | insertion | Frame_Shift_Ins | novel | c.245_246insT | p.Leu83ProfsTer67 | p.L83Pfs*67 | Q6ZVN8 | protein_coding | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
HFE2 | insertion | In_Frame_Ins | novel | c.244_245insACTGGGTTTCACCATGTTGGCCAACCTGGTCTCGAA | p.Ala82delinsAspTrpValSerProCysTrpProThrTrpSerArgThr | p.A82delinsDWVSPCWPTWSRT | Q6ZVN8 | protein_coding | TCGA-AN-A0FX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD | ||
HFE2 | SNV | Missense_Mutation | c.511N>A | p.Gly171Arg | p.G171R | Q6ZVN8 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AA-3815-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HFE2 | SNV | Missense_Mutation | c.644C>T | p.Thr215Ile | p.T215I | Q6ZVN8 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AA-A022-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HFE2 | SNV | Missense_Mutation | c.182C>A | p.Ala61Glu | p.A61E | Q6ZVN8 | protein_coding | tolerated(0.17) | benign(0.038) | TCGA-AA-A03J-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
HFE2 | SNV | Missense_Mutation | c.838T>A | p.Tyr280Asn | p.Y280N | Q6ZVN8 | protein_coding | deleterious(0) | probably_damaging(0.939) | TCGA-AZ-4615-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | PD | |
HFE2 | SNV | Missense_Mutation | c.431C>T | p.Ala144Val | p.A144V | Q6ZVN8 | protein_coding | tolerated(0.12) | benign(0.003) | TCGA-AZ-4615-01 | Colorectum | colon adenocarcinoma | Male | >=65 | III/IV | Chemotherapy | xeloda | 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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