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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 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 | 20180523 | |
| UniProtAcc | Q99075 | |
| Context | PubMed: HBEGF [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 |
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Exon skipping events across known transcript of Ensembl for HBEGF 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 HBEGF |
| 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 HBEGF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_444803 | 5 | 139713811:139713865:139714242:139714333:139715456:139715612 | 139714242:139714333 | ENSG00000113070.6 | ENST00000507104.1,ENST00000230990.6 |
| exon_skip_444805 | 5 | 139714242:139714333:139715456:139715612:139722219:139722397 | 139715456:139715612 | ENSG00000113070.6 | ENST00000507104.1,ENST00000230990.6 |
| exon_skip_444806 | 5 | 139715475:139715612:139722219:139722397:139725495:139725669 | 139722219:139722397 | ENSG00000113070.6 | ENST00000507104.1,ENST00000230990.6 |
| exon_skip_444807 | 5 | 139722219:139722397:139725495:139725669:139725867:139726188 | 139725495:139725669 | ENSG00000113070.6 | ENST00000507104.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for HBEGF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_444803 | 5 | 139713811:139713865:139714242:139714333:139715456:139715612 | 139714242:139714333 | ENSG00000113070.6 | ENST00000230990.6,ENST00000507104.1 |
| exon_skip_444805 | 5 | 139714242:139714333:139715456:139715612:139722219:139722397 | 139715456:139715612 | ENSG00000113070.6 | ENST00000230990.6,ENST00000507104.1 |
| exon_skip_444806 | 5 | 139715475:139715612:139722219:139722397:139725495:139725669 | 139722219:139722397 | ENSG00000113070.6 | ENST00000230990.6,ENST00000507104.1 |
| exon_skip_444807 | 5 | 139722219:139722397:139725495:139725669:139725867:139726188 | 139725495:139725669 | ENSG00000113070.6 | ENST00000507104.1 |
| 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 HBEGF |
| 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 |
| ENST00000230990 | 139714242 | 139714333 | 5CDS-5UTR |
| ENST00000230990 | 139722219 | 139722397 | Frame-shift |
| ENST00000230990 | 139715456 | 139715612 | 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 |
| ENST00000230990 | 139714242 | 139714333 | 5CDS-5UTR |
| ENST00000230990 | 139722219 | 139722397 | Frame-shift |
| ENST00000230990 | 139715456 | 139715612 | In-frame |
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Infer the effects of exon skipping event on protein functional features for HBEGF |
| 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 |
| ENST00000230990 | 2403 | 208 | 139715456 | 139715612 | 702 | 857 | 133 | 184 |
| 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 |
| ENST00000230990 | 2403 | 208 | 139715456 | 139715612 | 702 | 857 | 133 | 184 |
| 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 |
| 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 |
| 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 |
| 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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SNVs in the skipped exons for HBEGF |
| - 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 |
| LGG | TCGA-HT-A5R9-01 | exon_skip_444805 | 139715457 | 139715612 | 139715486 | 139715489 | Frame_Shift_Del | CAGA | - | p.CL174fs |
| BLCA | TCGA-XF-AAN7-01 | exon_skip_444806 | 139722220 | 139722397 | 139722233 | 139722233 | Frame_Shift_Del | C | - | p.A129fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_444807 | 139725496 | 139725669 | 139725559 | 139725559 | Frame_Shift_Del | G | - | p.L53fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_444807 | 139725496 | 139725669 | 139725597 | 139725597 | Frame_Shift_Del | G | - | p.P40fs |
| - 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 |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139722220 | 139722397 | 139722306 | 139722307 | Frame_Shift_Ins | - | T | p.K104fs |
| COV504_OVARY | 139714243 | 139714333 | 139714295 | 139714295 | Missense_Mutation | T | C | p.E198G |
| NCIH650_LUNG | 139715457 | 139715612 | 139715473 | 139715473 | Missense_Mutation | C | T | p.G180R |
| ES3_BONE | 139715457 | 139715612 | 139715521 | 139715521 | Missense_Mutation | C | T | p.A164T |
| NCIH2591_PLEURA | 139715457 | 139715612 | 139715524 | 139715524 | Missense_Mutation | G | C | p.L163V |
| JHOS3_OVARY | 139715457 | 139715612 | 139715590 | 139715590 | Missense_Mutation | C | T | p.E141K |
| 639V_URINARY_TRACT | 139722220 | 139722397 | 139722236 | 139722236 | Missense_Mutation | G | A | p.R128W |
| HT115_LARGE_INTESTINE | 139722220 | 139722397 | 139722290 | 139722290 | Missense_Mutation | G | A | p.R110W |
| JHUEM7_ENDOMETRIUM | 139722220 | 139722397 | 139722293 | 139722293 | Missense_Mutation | G | T | p.L109I |
| HEC1A_ENDOMETRIUM | 139722220 | 139722397 | 139722314 | 139722314 | Missense_Mutation | C | A | p.G102W |
| SNU175_LARGE_INTESTINE | 139722220 | 139722397 | 139722368 | 139722368 | Missense_Mutation | C | T | p.A84T |
| SNU1040_LARGE_INTESTINE | 139722220 | 139722397 | 139722389 | 139722389 | Missense_Mutation | A | G | p.S77P |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 139725496 | 139725669 | 139725586 | 139725586 | Missense_Mutation | T | C | p.T44A |
| EN_ENDOMETRIUM | 139725496 | 139725669 | 139725625 | 139725625 | Missense_Mutation | T | C | p.R31G |
| SNU81_LARGE_INTESTINE | 139722220 | 139722397 | 139722260 | 139722260 | Nonsense_Mutation | C | A | p.E120* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HBEGF |
| 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 HBEGF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for HBEGF |
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RelatedDrugs for HBEGF |
| 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 HBEGF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| HBEGF | C0014175 | Endometriosis | 1 | CTD_human |
| HBEGF | C0014549 | Tonic-Clonic Epilepsy | 1 | CTD_human |
| HBEGF | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
| HBEGF | C0035126 | Reperfusion Injury | 1 | CTD_human |
| HBEGF | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| HBEGF | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| HBEGF | C0520459 | Necrotizing Enterocolitis | 1 | CTD_human |
| HBEGF | C2609414 | Acute kidney injury | 1 | CTD_human |
| HBEGF | C3495559 | Juvenile arthritis | 1 | CTD_human |
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