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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 HAMP |
 Gene summary |
| Gene information | Gene symbol | HAMP | Gene ID | 57817 |
| Gene name | hepcidin antimicrobial peptide | |
| Synonyms | HEPC|HFE2B|LEAP1|PLTR | |
| Cytomap | 19q13.12 | |
| Type of gene | protein-coding | |
| Description | hepcidinliver-expressed antimicrobial peptide 1putative liver tumor regressor | |
| Modification date | 20180523 | |
| UniProtAcc | P81172 | |
| Context | PubMed: HAMP [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 |
| HAMP | GO:0006879 | cellular iron ion homeostasis | 15514116 |
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Exon skipping events across known transcript of Ensembl for HAMP 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 HAMP |
| 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 HAMP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_305695 | 19 | 35773396:35773570:35775691:35775751:35775840:35776016 | 35775691:35775751 | ENSG00000105697.3 | ENST00000598398.1,ENST00000222304.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HAMP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_305695 | 19 | 35773396:35773570:35775691:35775751:35775840:35776016 | 35775691:35775751 | ENSG00000105697.3 | ENST00000598398.1,ENST00000222304.3 |
| 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 HAMP |
| 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 |
| ENST00000222304 | 35775691 | 35775751 | In-frame |
| ENST00000598398 | 35775691 | 35775751 | 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 |
| ENST00000222304 | 35775691 | 35775751 | In-frame |
| ENST00000598398 | 35775691 | 35775751 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HAMP |
| 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 |
| ENST00000222304 | 575 | 84 | 35775691 | 35775751 | 323 | 382 | 30 | 50 |
| ENST00000598398 | 669 | 84 | 35775691 | 35775751 | 387 | 446 | 30 | 50 |
| 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 |
| ENST00000222304 | 575 | 84 | 35775691 | 35775751 | 323 | 382 | 30 | 50 |
| ENST00000598398 | 669 | 84 | 35775691 | 35775751 | 387 | 446 | 30 | 50 |
| 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 |
| P81172 | 30 | 50 | 25 | 54 | Propeptide | ID=PRO_0000013378 |
| P81172 | 30 | 50 | 25 | 54 | Propeptide | ID=PRO_0000013378 |
| P81172 | 30 | 50 | 31 | 31 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P81172 | 30 | 50 | 31 | 31 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| P81172 | 30 | 50 | 25 | 54 | Propeptide | ID=PRO_0000013378 |
| P81172 | 30 | 50 | 25 | 54 | Propeptide | ID=PRO_0000013378 |
| P81172 | 30 | 50 | 31 | 31 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P81172 | 30 | 50 | 31 | 31 | Sequence conflict | Note=T->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for HAMP |
| - 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-G3-A3CJ-01 | exon_skip_305695 | 35775692 | 35775751 | 35775716 | 35775716 | Frame_Shift_Del | C | - | p.P39fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_305695 | 35775692 | 35775751 | 35775716 | 35775716 | Frame_Shift_Del | C | - | p.Q38fs |
| KIRP | TCGA-A4-A772-01 | exon_skip_305695 | 35775692 | 35775751 | 35775707 | 35775707 | Nonsense_Mutation | G | T | p.E36X |
| SKCM | TCGA-FW-A5DY-06 | exon_skip_305695 | 35775692 | 35775751 | 35775748 | 35775748 | Nonsense_Mutation | G | A | p.W49* |
| - 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 |
| EW24_BONE | 35775692 | 35775751 | 35775711 | 35775711 | Missense_Mutation | T | A | p.L37Q |
| KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 35775692 | 35775751 | 35775735 | 35775735 | Missense_Mutation | C | A | p.A45D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HAMP |
| 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 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HAMP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HAMP |
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RelatedDrugs for HAMP |
| 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 HAMP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HAMP | C0018995 | Hemochromatosis | 6 | CTD_human |
| HAMP | C0002871 | Anemia | 3 | CTD_human |
| HAMP | C1865616 | HEMOCHROMATOSIS, TYPE 2B | 3 | CTD_human;UNIPROT |
| HAMP | C0282193 | Iron Overload | 2 | CTD_human |
| HAMP | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| HAMP | C0005283 | beta Thalassemia | 1 | CTD_human |
| HAMP | C0005411 | Biliary Atresia | 1 | CTD_human |
| HAMP | C0019202 | Hepatolenticular Degeneration | 1 | CTD_human |
| HAMP | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
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