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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for HBEGF |
 Gene summary |
| Gene information | Gene symbol | HBEGF | Gene ID | 1839 |
| Gene name | heparin binding EGF like growth factor | |
| Synonyms | DTR|DTS|DTSF|HEGFL | |
| Cytomap | 5q31.3 | |
| Type of gene | protein-coding | |
| Description | proheparin-binding EGF-like growth factordiphtheria toxin receptor (heparin-binding EGF-like growth factor)diphtheria toxin receptor (heparin-binding epidermal growth factor-like growth factor)heparin-binding epidermal growth factor | |
| Modification date | 20200313 | |
| UniProtAcc | Q1HK36, Q99075, | |
| Context | - 27431094(Chronic Cerebral Hypoperfusion-Induced Impairment of Aβ Clearance Requires HB-EGF-dependent Sequential Activation of HIF1α and MMP9) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for HBEGF |
| Skipped exons in the ROSMAP, MSBB, and Mayo 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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ENSG00000113070
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000498452.1 | HBEGF-203:retained_intron:HBEGF | 1.528265e+00 | 1.014326e+00 | 2.381455e-03 | 1.064850e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HBEGF |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_278106 | chr5 | 140334658:140334748:140335872:140336027:140342635:140342812 | 140335872:140336027 |
| exon_skip_289082 | chr5 | 140333524:140334280:140334658:140334748:140335872:140336027 | 140334658:140334748 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for HBEGF |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000230990 | 140334658 | 140334748 | 5CDS-5UTR |
| ENST00000230990 | 140335872 | 140336027 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HBEGF |
p-ENSG00000113070_img4.png |
| Loci of skipped exons in ROSMAP 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 |
| Loci of skipped exons in MSBB 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 |
| Loci of skipped exons in Mayo 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 |
| ENST00000230990 | 2403 | 208 | 140335872 | 140336027 | 702 | 856 | 133 | 184 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| 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 MSBB. |
| 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 Mayo. |
| 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 |
| Q99075 | 133 | 184 | 132 | 134 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XDT |
| Q99075 | 133 | 184 | 138 | 140 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1XDT |
| Q99075 | 133 | 184 | 20 | 208 | Chain | ID=PRO_0000302803;Note=Proheparin-binding EGF-like growth factor |
| Q99075 | 133 | 184 | 63 | 148 | Chain | ID=PRO_0000007612;Note=Heparin-binding EGF-like growth factor |
| Q99075 | 133 | 184 | 134 | 143 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q99075 | 133 | 184 | 104 | 144 | Domain | Note=EGF-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00076 |
| Q99075 | 133 | 184 | 149 | 208 | Propeptide | ID=PRO_0000007613;Note=C-terminal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99075 | 133 | 184 | 141 | 141 | Site | Note=Plays a critical role in diphtheria toxin binding and toxin sensitivity;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q99075 | 133 | 184 | 20 | 160 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q99075 | 133 | 184 | 161 | 184 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in HBEGF |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for HBEGF |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - 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 |
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AD stage-associated exon skippint events for HBEGF |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HBEGF |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for HBEGF |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for HBEGF |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for HBEGF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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