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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for HFE |
 Gene summary |
| Gene information | Gene symbol | HFE | Gene ID | 3077 |
| Gene name | homeostatic iron regulator | |
| Synonyms | HFE1|HH|HLA-H|MVCD7|TFQTL2 | |
| Cytomap | 6p22.2 | |
| Type of gene | protein-coding | |
| Description | hereditary hemochromatosis proteinMHC class I-like protein HFEhereditary hemochromatosis protein HLA-Hhigh Fe | |
| Modification date | 20180523 | |
| UniProtAcc | Q30201 | |
| Context | PubMed: HFE [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HFE | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 24904118 |
| HFE | GO:0030509 | BMP signaling pathway | 24904118 |
| HFE | GO:0098711 | iron ion import across plasma membrane | 10085150 |
| HFE | GO:1900121 | negative regulation of receptor binding | 9465039 |
| HFE | GO:2000059 | negative regulation of ubiquitin-dependent protein catabolic process | 24904118 |
| HFE | GO:2000272 | negative regulation of signaling receptor activity | 9465039 |
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Exon skipping events across known transcript of Ensembl for HFE from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for HFE |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for HFE |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448471 | 6 | 26087666:26087744:26091068:26091332:26091541:26091817 | 26091068:26091332 | ENSG00000010704.14 | ENST00000470149.1,ENST00000309234.6,ENST00000357618.5,ENST00000461397.1 |
| exon_skip_448472 | 6 | 26087666:26087744:26091068:26091332:26092912:26093188 | 26091068:26091332 | ENSG00000010704.14 | ENST00000317896.7 |
| exon_skip_448474 | 6 | 26087666:26087744:26091068:26091817:26092912:26093188 | 26091068:26091817 | ENSG00000010704.14 | ENST00000483782.1 |
| exon_skip_448479 | 6 | 26087666:26087744:26091541:26091817:26092912:26093188 | 26091541:26091817 | ENSG00000010704.14 | ENST00000349999.4 |
| exon_skip_448482 | 6 | 26091137:26091332:26091541:26091817:26092912:26093188 | 26091541:26091817 | ENSG00000010704.14 | ENST00000309234.6,ENST00000357618.5,ENST00000397022.3 |
| exon_skip_448483 | 6 | 26091137:26091332:26091541:26091817:26092954:26093188 | 26091541:26091817 | ENSG00000010704.14 | ENST00000461397.1 |
| exon_skip_448485 | 6 | 26091137:26091332:26092912:26093188:26093346:26093460 | 26092912:26093188 | ENSG00000010704.14 | ENST00000317896.7 |
| exon_skip_448487 | 6 | 26091541:26091817:26092836:26092869:26092954:26093188 | 26092836:26092869 | ENSG00000010704.14 | ENST00000470149.1 |
| exon_skip_448488 | 6 | 26093346:26093460:26094413:26094446:26094631:26094781 | 26094413:26094446 | ENSG00000010704.14 | ENST00000485729.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HFE |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_448471 | 6 | 26087666:26087744:26091068:26091332:26091541:26091817 | 26091068:26091332 | ENSG00000010704.14 | ENST00000357618.5,ENST00000470149.1,ENST00000461397.1,ENST00000309234.6 |
| exon_skip_448472 | 6 | 26087666:26087744:26091068:26091332:26092912:26093188 | 26091068:26091332 | ENSG00000010704.14 | ENST00000317896.7 |
| exon_skip_448474 | 6 | 26087666:26087744:26091068:26091817:26092912:26093188 | 26091068:26091817 | ENSG00000010704.14 | ENST00000483782.1 |
| exon_skip_448479 | 6 | 26087666:26087744:26091541:26091817:26092912:26093188 | 26091541:26091817 | ENSG00000010704.14 | ENST00000349999.4 |
| exon_skip_448480 | 6 | 26087666:26087744:26092912:26093188:26093346:26093460 | 26092912:26093188 | ENSG00000010704.14 | ENST00000353147.5 |
| exon_skip_448482 | 6 | 26091137:26091332:26091541:26091817:26092912:26093188 | 26091541:26091817 | ENSG00000010704.14 | ENST00000397022.3,ENST00000357618.5,ENST00000309234.6 |
| exon_skip_448483 | 6 | 26091137:26091332:26091541:26091817:26092954:26093188 | 26091541:26091817 | ENSG00000010704.14 | ENST00000461397.1 |
| exon_skip_448487 | 6 | 26091541:26091817:26092836:26092869:26092954:26093188 | 26092836:26092869 | ENSG00000010704.14 | ENST00000470149.1 |
| exon_skip_448488 | 6 | 26093346:26093460:26094413:26094446:26094631:26094781 | 26094413:26094446 | ENSG00000010704.14 | ENST00000485729.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for HFE |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000357618 | 26091068 | 26091332 | In-frame |
| ENST00000357618 | 26091541 | 26091817 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000357618 | 26091068 | 26091332 | In-frame |
| ENST00000357618 | 26091541 | 26091817 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HFE |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000357618 | 5303 | 348 | 26091068 | 26091332 | 199 | 462 | 25 | 113 |
| ENST00000357618 | 5303 | 348 | 26091541 | 26091817 | 463 | 738 | 113 | 205 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000357618 | 5303 | 348 | 26091068 | 26091332 | 199 | 462 | 25 | 113 |
| ENST00000357618 | 5303 | 348 | 26091541 | 26091817 | 463 | 738 | 113 | 205 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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SNVs in the skipped exons for HFE |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_448471 exon_skip_448472 | 26091069 | 26091332 | 26091312 | 26091312 | Frame_Shift_Del | A | - | p.E107fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_448474 | 26091069 | 26091817 | 26091312 | 26091312 | Frame_Shift_Del | A | - | p.E107fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_448474 | 26091069 | 26091817 | 26091683 | 26091683 | Frame_Shift_Del | G | - | p.R161fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_448479 exon_skip_448483 exon_skip_448482 | 26091542 | 26091817 | 26091683 | 26091683 | Frame_Shift_Del | G | - | p.R161fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_448485 | 26092913 | 26093188 | 26092989 | 26092989 | Frame_Shift_Del | C | - | p.Y231fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_448485 | 26092913 | 26093188 | 26093056 | 26093056 | Frame_Shift_Del | A | - | p.K254fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_448485 | 26092913 | 26093188 | 26093113 | 26093113 | Frame_Shift_Del | C | - | p.P274fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_448485 | 26092913 | 26093188 | 26093113 | 26093113 | Frame_Shift_Del | C | - | p.V272fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_448485 | 26092913 | 26093188 | 26093113 | 26093113 | Frame_Shift_Del | C | - | p.P274fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_448485 | 26092913 | 26093188 | 26092988 | 26092989 | Frame_Shift_Ins | - | C | p.Y231fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_448485 | 26092913 | 26093188 | 26092989 | 26092990 | Frame_Shift_Ins | - | C | p.Y231fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_448485 | 26092913 | 26093188 | 26093169 | 26093170 | Frame_Shift_Ins | - | C | p.HP291fs |
| UCS | TCGA-NF-A4WX-01 | exon_skip_448471 exon_skip_448472 | 26091069 | 26091332 | 26091203 | 26091203 | Nonsense_Mutation | C | T | p.R71* |
| UCS | TCGA-NF-A4WX-01 | exon_skip_448471 exon_skip_448472 | 26091069 | 26091332 | 26091203 | 26091203 | Nonsense_Mutation | C | T | p.R71X |
| UCS | TCGA-NF-A4WX-01 | exon_skip_448474 | 26091069 | 26091817 | 26091203 | 26091203 | Nonsense_Mutation | C | T | p.R71* |
| UCS | TCGA-NF-A4WX-01 | exon_skip_448474 | 26091069 | 26091817 | 26091203 | 26091203 | Nonsense_Mutation | C | T | p.R71X |
| UCEC | TCGA-D1-A167-01 | exon_skip_448485 | 26092913 | 26093188 | 26093013 | 26093013 | Nonsense_Mutation | G | A | p.W239* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HUH7_LIVER | 26092913 | 26093188 | 26092982 | 26092984 | In_Frame_Del | ACT | - | p.Y231del |
| CHLA06ATRT_SOFT_TISSUE | 26091069 | 26091817 | 26091086 | 26091086 | Missense_Mutation | T | C | p.Y32H |
| CHLA06ATRT_SOFT_TISSUE | 26091069 | 26091332 | 26091086 | 26091086 | Missense_Mutation | T | C | p.Y32H |
| BB49HNC_UPPER_AERODIGESTIVE_TRACT | 26091069 | 26091817 | 26091117 | 26091117 | Missense_Mutation | T | G | p.L42R |
| BB49HNC_UPPER_AERODIGESTIVE_TRACT | 26091069 | 26091332 | 26091117 | 26091117 | Missense_Mutation | T | G | p.L42R |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26091069 | 26091817 | 26091204 | 26091204 | Missense_Mutation | G | T | p.R71L |
| NKL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26091069 | 26091332 | 26091204 | 26091204 | Missense_Mutation | G | T | p.R71L |
| SNU1040_LARGE_INTESTINE | 26091069 | 26091817 | 26091204 | 26091204 | Missense_Mutation | G | A | p.R71Q |
| SNU1040_LARGE_INTESTINE | 26091069 | 26091332 | 26091204 | 26091204 | Missense_Mutation | G | A | p.R71Q |
| KMRC3_KIDNEY | 26091069 | 26091817 | 26091209 | 26091209 | Missense_Mutation | C | T | p.P73S |
| KMRC3_KIDNEY | 26091069 | 26091332 | 26091209 | 26091209 | Missense_Mutation | C | T | p.P73S |
| ESO51_OESOPHAGUS | 26091069 | 26091817 | 26091210 | 26091210 | Missense_Mutation | C | T | p.P73L |
| ESO51_OESOPHAGUS | 26091069 | 26091332 | 26091210 | 26091210 | Missense_Mutation | C | T | p.P73L |
| LNCAPCLONEFGC_PROSTATE | 26091069 | 26091817 | 26091272 | 26091272 | Missense_Mutation | T | C | p.W94R |
| LNCAPCLONEFGC_PROSTATE | 26091069 | 26091332 | 26091272 | 26091272 | Missense_Mutation | T | C | p.W94R |
| AN3CA_ENDOMETRIUM | 26091069 | 26091817 | 26091302 | 26091302 | Missense_Mutation | A | T | p.T104S |
| AN3CA_ENDOMETRIUM | 26091069 | 26091332 | 26091302 | 26091302 | Missense_Mutation | A | T | p.T104S |
| CORL24_LUNG | 26091542 | 26091817 | 26091568 | 26091568 | Missense_Mutation | G | T | p.G123C |
| CORL24_LUNG | 26091069 | 26091817 | 26091568 | 26091568 | Missense_Mutation | G | T | p.G123C |
| LS411N_LARGE_INTESTINE | 26091542 | 26091817 | 26091625 | 26091625 | Missense_Mutation | G | A | p.G142R |
| LS411N_LARGE_INTESTINE | 26091069 | 26091817 | 26091625 | 26091625 | Missense_Mutation | G | A | p.G142R |
| UMCHOR1_BONE | 26091542 | 26091817 | 26091699 | 26091699 | Missense_Mutation | G | C | p.K166N |
| UMCHOR1_BONE | 26091069 | 26091817 | 26091699 | 26091699 | Missense_Mutation | G | C | p.K166N |
| KYSE270_OESOPHAGUS | 26091542 | 26091817 | 26091724 | 26091724 | Missense_Mutation | C | T | p.R175W |
| KYSE270_OESOPHAGUS | 26091069 | 26091817 | 26091724 | 26091724 | Missense_Mutation | C | T | p.R175W |
| DOV13_OVARY | 26091542 | 26091817 | 26091790 | 26091790 | Missense_Mutation | C | A | p.L197M |
| DOV13_OVARY | 26091069 | 26091817 | 26091790 | 26091790 | Missense_Mutation | C | A | p.L197M |
| HS294T_SKIN | 26091542 | 26091817 | 26091790 | 26091790 | Missense_Mutation | C | A | p.L197M |
| HS294T_SKIN | 26091069 | 26091817 | 26091790 | 26091790 | Missense_Mutation | C | A | p.L197M |
| KYSE140_OESOPHAGUS | 26091542 | 26091817 | 26091811 | 26091811 | Missense_Mutation | C | A | p.Q204K |
| KYSE140_OESOPHAGUS | 26091069 | 26091817 | 26091811 | 26091811 | Missense_Mutation | C | A | p.Q204K |
| NUGC2_STOMACH | 26091542 | 26091817 | 26091811 | 26091811 | Missense_Mutation | C | A | p.Q204K |
| NUGC2_STOMACH | 26091069 | 26091817 | 26091811 | 26091811 | Missense_Mutation | C | A | p.Q204K |
| LS123_LARGE_INTESTINE | 26092913 | 26093188 | 26093025 | 26093025 | Missense_Mutation | G | C | p.K243N |
| NCIH2052_PLEURA | 26092913 | 26093188 | 26093025 | 26093025 | Missense_Mutation | G | C | p.K243N |
| H9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26092913 | 26093188 | 26093028 | 26093028 | Missense_Mutation | G | T | p.Q244H |
| HCC1569_BREAST | 26092913 | 26093188 | 26093072 | 26093072 | Missense_Mutation | A | G | p.N259S |
| SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26092913 | 26093188 | 26093095 | 26093095 | Missense_Mutation | T | C | p.W267R |
| MM370_SKIN | 26092913 | 26093188 | 26093116 | 26093116 | Missense_Mutation | C | T | p.P274S |
| SNU81_LARGE_INTESTINE | 26091542 | 26091817 | 26091640 | 26091640 | Nonsense_Mutation | G | T | p.E147* |
| SNU81_LARGE_INTESTINE | 26091069 | 26091817 | 26091640 | 26091640 | Nonsense_Mutation | G | T | p.E147* |
| HEC108_ENDOMETRIUM | 26092913 | 26093188 | 26092913 | 26092913 | Splice_Site | T | C | p.V206A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HFE |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
| exon_skip_448485 | 6 | 26091137:26091332:26092912:26093188:26093346:26093460 | 26092912:26093188 | ENST00000317896.7 | KIRP | rs1800562 | chr6:26093141 | C/T | 1.64e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HFE |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HFE |
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RelatedDrugs for HFE |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HFE |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HFE | C0018995 | Hemochromatosis | 14 | CTD_human |
| HFE | C3469186 | HEMOCHROMATOSIS, TYPE 1 | 7 | ORPHANET;UNIPROT |
| HFE | C0002395 | Alzheimer's Disease | 2 | CTD_human |
| HFE | C0005612 | Birth Weight | 1 | CTD_human |
| HFE | C0019196 | Hepatitis C | 1 | CTD_human |
| HFE | C0023176 | Lead Poisoning | 1 | CTD_human |
| HFE | C0030567 | Parkinson Disease | 1 | CTD_human |
| HFE | C0036337 | Schizoaffective Disorder | 1 | PSYGENET |
| HFE | C0036341 | Schizophrenia | 1 | PSYGENET |
| HFE | C0085762 | Alcohol abuse | 1 | PSYGENET |
| HFE | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |
| HFE | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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