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Gene: HFE |
Gene summary for HFE |
 Gene summary. |
| Gene information | Species | Human | Gene symbol | HFE | Gene ID | 3077 |
| Gene name | homeostatic iron regulator | |
| Gene Alias | HFE1 | |
| Cytomap | 6p22.2 | |
| Gene Type | protein-coding | GO ID | GO:0000003 | UniProtAcc | Q30201 |
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Malignant transformation analysis |
| Identification of the aberrant gene expression in precancerous and cancerous lesions by comparing the gene expression of stem-like cells in diseased tissues with normal stem cells |
| Malignant transformation involving gene list. |
| Entrez ID | Symbol | Replicates | Species | Organ | Tissue | Adj P-value | Log2FC | Malignancy |
| 3077 | HFE | LZE24T | Human | Esophagus | ESCC | 1.07e-05 | 9.38e-02 | 0.0596 |
| 3077 | HFE | P2T-E | Human | Esophagus | ESCC | 1.99e-05 | 1.23e-01 | 0.1177 |
| 3077 | HFE | P4T-E | Human | Esophagus | ESCC | 4.45e-14 | 1.89e-01 | 0.1323 |
| 3077 | HFE | P8T-E | Human | Esophagus | ESCC | 9.47e-04 | 1.10e-01 | 0.0889 |
| 3077 | HFE | P9T-E | Human | Esophagus | ESCC | 1.73e-09 | 9.47e-02 | 0.1131 |
| 3077 | HFE | P11T-E | Human | Esophagus | ESCC | 2.35e-03 | 1.04e-01 | 0.1426 |
| 3077 | HFE | P12T-E | Human | Esophagus | ESCC | 2.37e-04 | 3.60e-02 | 0.1122 |
| 3077 | HFE | P17T-E | Human | Esophagus | ESCC | 2.36e-02 | 9.69e-02 | 0.1278 |
| 3077 | HFE | P20T-E | Human | Esophagus | ESCC | 9.97e-05 | 7.43e-02 | 0.1124 |
| 3077 | HFE | P22T-E | Human | Esophagus | ESCC | 6.49e-05 | 1.18e-01 | 0.1236 |
| 3077 | HFE | P24T-E | Human | Esophagus | ESCC | 1.03e-02 | 5.13e-02 | 0.1287 |
| 3077 | HFE | P27T-E | Human | Esophagus | ESCC | 1.66e-02 | 6.43e-02 | 0.1055 |
| 3077 | HFE | P30T-E | Human | Esophagus | ESCC | 1.94e-03 | 9.19e-02 | 0.137 |
| 3077 | HFE | P31T-E | Human | Esophagus | ESCC | 7.90e-03 | 5.77e-02 | 0.1251 |
| 3077 | HFE | P32T-E | Human | Esophagus | ESCC | 2.67e-07 | 7.61e-02 | 0.1666 |
| 3077 | HFE | P36T-E | Human | Esophagus | ESCC | 5.50e-09 | 1.32e-01 | 0.1187 |
| 3077 | HFE | P37T-E | Human | Esophagus | ESCC | 6.91e-08 | 1.42e-01 | 0.1371 |
| 3077 | HFE | P42T-E | Human | Esophagus | ESCC | 1.17e-02 | 1.42e-01 | 0.1175 |
| 3077 | HFE | P52T-E | Human | Esophagus | ESCC | 1.66e-02 | 8.75e-02 | 0.1555 |
| 3077 | HFE | P54T-E | Human | Esophagus | ESCC | 1.00e-08 | 8.90e-02 | 0.0975 |
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| Transcriptomic changes along malignancy continuum. |
| Tissue | Expression Dynamics | Abbreviation |
| Esophagus |  | ESCC: Esophageal squamous cell carcinoma |
| HGIN: High-grade intraepithelial neoplasias | ||
| LGIN: Low-grade intraepithelial neoplasias |
| ∗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 |
| Find out the enriched GO biological processes and KEGG pathways involved in transition from healthy to precancer to cancer |
| Figure of enriched GO biological processes. |
| 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). |
| Page: 1 2 3 4 5 6 7 8 9 |
| Enriched GO biological processes. |
| GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
| GO:0010498111 | Esophagus | ESCC | proteasomal protein catabolic process | 369/8552 | 490/18723 | 1.13e-41 | 1.80e-38 | 369 |
| GO:0043161111 | Esophagus | ESCC | proteasome-mediated ubiquitin-dependent protein catabolic process | 312/8552 | 412/18723 | 3.53e-36 | 4.48e-33 | 312 |
| GO:0042176111 | Esophagus | ESCC | regulation of protein catabolic process | 280/8552 | 391/18723 | 8.65e-26 | 2.39e-23 | 280 |
| GO:1903362111 | Esophagus | ESCC | regulation of cellular protein catabolic process | 188/8552 | 255/18723 | 5.12e-20 | 6.62e-18 | 188 |
| GO:0051098111 | Esophagus | ESCC | regulation of binding | 251/8552 | 363/18723 | 6.73e-20 | 8.46e-18 | 251 |
| GO:1903050111 | Esophagus | ESCC | regulation of proteolysis involved in cellular protein catabolic process | 163/8552 | 221/18723 | 1.44e-17 | 1.27e-15 | 163 |
| GO:0061136111 | Esophagus | ESCC | regulation of proteasomal protein catabolic process | 142/8552 | 187/18723 | 2.40e-17 | 2.00e-15 | 142 |
| GO:0032434111 | Esophagus | ESCC | regulation of proteasomal ubiquitin-dependent protein catabolic process | 107/8552 | 134/18723 | 4.06e-16 | 2.93e-14 | 107 |
| GO:2000058111 | Esophagus | ESCC | regulation of ubiquitin-dependent protein catabolic process | 125/8552 | 164/18723 | 1.17e-15 | 7.76e-14 | 125 |
| GO:0071496111 | Esophagus | ESCC | cellular response to external stimulus | 215/8552 | 320/18723 | 4.29e-15 | 2.43e-13 | 215 |
| GO:0031668111 | Esophagus | ESCC | cellular response to extracellular stimulus | 168/8552 | 246/18723 | 4.93e-13 | 2.23e-11 | 168 |
| GO:0031669110 | Esophagus | ESCC | cellular response to nutrient levels | 148/8552 | 215/18723 | 4.58e-12 | 1.76e-10 | 148 |
| GO:0048732111 | Esophagus | ESCC | gland development | 269/8552 | 436/18723 | 7.81e-12 | 2.95e-10 | 269 |
| GO:0031667111 | Esophagus | ESCC | response to nutrient levels | 289/8552 | 474/18723 | 9.25e-12 | 3.47e-10 | 289 |
| GO:0051099111 | Esophagus | ESCC | positive regulation of binding | 122/8552 | 173/18723 | 2.79e-11 | 9.45e-10 | 122 |
| GO:004339320 | Esophagus | ESCC | regulation of protein binding | 135/8552 | 196/18723 | 3.69e-11 | 1.22e-09 | 135 |
| GO:0009267110 | Esophagus | ESCC | cellular response to starvation | 110/8552 | 156/18723 | 2.63e-10 | 7.37e-09 | 110 |
| GO:0009895111 | Esophagus | ESCC | negative regulation of catabolic process | 201/8552 | 320/18723 | 3.88e-10 | 1.05e-08 | 201 |
| GO:004259419 | Esophagus | ESCC | response to starvation | 133/8552 | 197/18723 | 4.31e-10 | 1.14e-08 | 133 |
| GO:0031330111 | Esophagus | ESCC | negative regulation of cellular catabolic process | 166/8552 | 262/18723 | 5.17e-09 | 1.08e-07 | 166 |
| Page: 1 2 3 |
| Enriched KEGG pathways. |
| Pathway ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | qvalue | Count |
| hsa043507 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
| hsa0435014 | Esophagus | ESCC | TGF-beta signaling pathway | 69/4205 | 108/8465 | 1.92e-03 | 5.54e-03 | 2.84e-03 | 69 |
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Cell-cell communication analysis |
| Identification of potential cell-cell interactions between two cell types and their ligand-receptor pairs for different disease states |
| Ligand | Receptor | LRpair | Pathway | Tissue | Disease Stage |
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Single-cell gene regulatory network inference analysis |
| Find out the significant the regulons (TFs) and the target genes of each regulon across cell types for different disease states |
| 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 |
| Annotation of somatic variants for genes involved in malignant transformation |
| 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 |
| HFE | SNV | Missense_Mutation | novel | c.482N>T | p.Arg161Met | p.R161M | Q30201 | protein_coding | tolerated(0.18) | benign(0.353) | TCGA-A8-A07B-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
| HFE | SNV | Missense_Mutation | c.620N>T | p.Pro207Leu | p.P207L | Q30201 | protein_coding | deleterious(0.03) | benign(0.205) | TCGA-BH-A18K-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | PD | |
| HFE | SNV | Missense_Mutation | c.743N>G | p.Ala248Gly | p.A248G | Q30201 | protein_coding | tolerated(0.08) | benign(0.262) | TCGA-C8-A12M-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| HFE | deletion | In_Frame_Del | rs760166054 | c.482_499delNNNNNNNNNNNNNNNNNN | p.Arg161_Leu167delinsMet | p.R161_L167delinsM | Q30201 | protein_coding | TCGA-A8-A08H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | ||
| HFE | insertion | Frame_Shift_Ins | novel | c.481_482insTGGAGTTC | p.Arg161MetfsTer53 | p.R161Mfs*53 | Q30201 | protein_coding | TCGA-A8-A09N-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD | ||
| HFE | SNV | Missense_Mutation | rs776741897 | c.212N>A | p.Arg71Gln | p.R71Q | Q30201 | protein_coding | tolerated(0.41) | possibly_damaging(0.654) | TCGA-FU-A3HZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
| HFE | SNV | Missense_Mutation | rs28934889 | c.157N>A | p.Val53Met | p.V53M | Q30201 | protein_coding | tolerated(0.06) | possibly_damaging(0.803) | TCGA-A6-6781-01 | Colorectum | colon adenocarcinoma | Male | <65 | III/IV | Chemotherapy | oxaliplatin | SD |
| HFE | SNV | Missense_Mutation | c.317N>G | p.Met106Arg | p.M106R | Q30201 | protein_coding | deleterious(0.05) | probably_damaging(0.942) | TCGA-AA-3664-01 | Colorectum | colon adenocarcinoma | Female | >=65 | I/II | Unknown | Unknown | SD | |
| HFE | SNV | Missense_Mutation | novel | c.699N>T | p.Gln233His | p.Q233H | Q30201 | protein_coding | tolerated(0.08) | benign(0.436) | TCGA-AZ-4315-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Unknown | Unknown | SD |
| HFE | SNV | Missense_Mutation | novel | c.684N>T | p.Leu228Phe | p.L228F | Q30201 | protein_coding | deleterious(0.01) | possibly_damaging(0.864) | TCGA-CA-6717-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | oxaliplatin | CR |
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Related drugs of malignant transformation related genes |
| Identification of chemicals and drugs interact with genes involved in malignant transfromation |
| (DGIdb 4.0) |
| Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
| 3077 | HFE | EXTERNAL SIDE OF PLASMA MEMBRANE, DRUGGABLE GENOME | adalimumab | ADALIMUMAB | 27115882 |
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