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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 ELN |
 Gene summary |
| Gene information | Gene symbol | ELN | Gene ID | 2006 |
| Gene name | elastin | |
| Synonyms | ADCL1|SVAS|WBS|WS | |
| Cytomap | 7q11.23 | |
| Type of gene | protein-coding | |
| Description | elastintropoelastin | |
| Modification date | 20200313 | |
| UniProtAcc | A7L3I8, B3KRT8, D3DXF3, E7EN51, | |
| Context |
| 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 ELN |
| 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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ENSG00000049540
| 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 |
| DLPFC | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.748483e+00 | 1.029102e+00 | 1.859475e-04 | 1.059970e-02 |
| DLPFC | DOWN | ENST00000428762.6 | RELN-203:protein_coding:RELN | 1.740287e+02 | -8.393750e-01 | 1.121721e-03 | 3.625711e-02 |
| PG | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.503286e+01 | 1.306655e+00 | 9.427978e-08 | 1.447948e-05 |
| PG | UP | ENST00000477397.1 | ELN-227:retained_intron:ELN | 5.876529e+00 | 8.175349e-01 | 2.068661e-04 | 4.672983e-03 |
| PG | UP | ENST00000429186.1 | RELN-204:protein_coding:RELN | 1.028548e+01 | 1.264442e+00 | 2.473131e-04 | 5.325036e-03 |
| PG | UP | ENST00000492003.5 | ELN-230:retained_intron:ELN | 3.003440e+00 | 9.269690e-01 | 3.353381e-04 | 6.631113e-03 |
| PG | DOWN | ENST00000428762.6 | RELN-203:protein_coding:RELN | 2.123379e+02 | -9.193207e-01 | 3.167788e-03 | 3.308134e-02 |
| CB | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.366291e+01 | 1.140204e+00 | 4.433817e-09 | 1.519291e-07 |
| CB | UP | ENST00000438880.5 | ELN-218:protein_coding:ELN | 2.376044e+00 | 1.155832e+00 | 1.636718e-03 | 7.802859e-03 |
| CB | UP | ENST00000473323.1 | ELN-226:retained_intron:ELN | 2.859979e+00 | 1.382747e+00 | 1.394044e-02 | 4.545322e-02 |
| TC | UP | ENST00000478148.1 | RELN-207:retained_intron:RELN | 1.632723e+01 | 1.173037e+00 | 5.277605e-06 | 1.555531e-04 |
| TC | DOWN | ENST00000428762.6 | RELN-203:protein_coding:RELN | 3.544514e+02 | -1.325017e+00 | 5.701862e-06 | 1.652379e-04 |
| 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 ELN |
| 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_10187 | chr7 | 74041216:74041251:74046188:74046217:74046696:74046767 | 74046188:74046217 |
| exon_skip_103552 | chr7 | 74045222:74045293:74046188:74046217:74046696:74046767 | 74046188:74046217 |
| exon_skip_110638 | chr7 | 74059886:74060047:74060140:74060184:74060376:74060501 | 74060140:74060184 |
| exon_skip_111781 | chr7 | 74054716:74054769:74056271:74056357:74056672:74056713 | 74056271:74056357 |
| exon_skip_128472 | chr7 | 74060140:74060184:74060376:74060600:74061101:74061139 | 74060376:74060600 |
| exon_skip_150626 | chr7 | 74043879:74043920:74045222:74045293:74046696:74046767 | 74045222:74045293 |
| exon_skip_18189 | chr7 | 74053163:74053309:74054716:74054769:74056271:74056347 | 74054716:74054769 |
| exon_skip_198735 | chr7 | 74059886:74060047:74060376:74060501:74061101:74061139 | 74060376:74060501 |
| exon_skip_2121 | chr7 | 74065944:74065997:74066732:74066776:74068657:74068700 | 74066732:74066776 |
| exon_skip_213551 | chr7 | 74043118:74043168:74043545:74043778:74043879:74043920 | 74043545:74043778 |
| exon_skip_229659 | chr7 | 74059886:74060047:74060140:74060184:74060376:74060470 | 74060140:74060184 |
| exon_skip_243502 | chr7 | 74037707:74037739:74041216:74041251:74042614:74042706 | 74041216:74041251 |
| exon_skip_252350 | chr7 | 74035364:74035414:74036555:74036584:74037707:74037739 | 74036555:74036584 |
| exon_skip_258075 | chr7 | 74059886:74060047:74060140:74060184:74060376:74060443 | 74060140:74060184 |
| exon_skip_266966 | chr7 | 74053166:74053309:74054716:74054769:74056271:74056347 | 74054716:74054769 |
| exon_skip_27577 | chr7 | 74065706:74065732:74066732:74066776:74068657:74068700 | 74066732:74066776 |
| exon_skip_282728 | chr7 | 74042634:74042706:74042984:74043034:74043118:74043168 | 74042984:74043034 |
| exon_skip_289068 | chr7 | 74056672:74056713:74057382:74057468:74057640:74057696 | 74057382:74057468 |
| exon_skip_29458 | chr7 | 74028188:74028269:74035364:74035688:74036555:74036584 | 74035364:74035688 |
| exon_skip_41770 | chr7 | 74046696:74046767:74047675:74047716:74048142:74048201 | 74047675:74047716 |
| exon_skip_51164 | chr7 | 74056683:74056713:74057640:74057696:74059886:74060047 | 74057640:74057696 |
| exon_skip_53858 | chr7 | 74054716:74054769:74056271:74056435:74056672:74056713 | 74056271:74056435 |
| exon_skip_5938 | chr7 | 74028188:74028269:74035364:74035414:74037707:74037739 | 74035364:74035414 |
| exon_skip_62677 | chr7 | 74065694:74065732:74065944:74065997:74066732:74066776 | 74065944:74065997 |
| exon_skip_68584 | chr7 | 74028188:74028269:74035364:74035414:74036555:74036584 | 74035364:74035414 |
| exon_skip_7293 | chr7 | 74043879:74043920:74045222:74045293:74046188:74046217 | 74045222:74045293 |
| exon_skip_78393 | chr7 | 74037707:74037739:74042614:74042706:74042984:74043034 | 74042614:74042706 |
| exon_skip_80858 | chr7 | 74041216:74041251:74042614:74042706:74042984:74043034 | 74042614:74042706 |
| exon_skip_82053 | chr7 | 74065706:74065732:74065944:74065997:74066732:74066776 | 74065944:74065997 |
| exon_skip_82495 | chr7 | 74060140:74060184:74060376:74060501:74061101:74061139 | 74060376:74060501 |
| exon_skip_90192 | chr7 | 74043135:74043168:74043545:74043778:74043879:74043920 | 74043545:74043778 |
| exon_skip_91569 | chr7 | 74065694:74065732:74066732:74066776:74068657:74068700 | 74066732:74066776 |
| exon_skip_96311 | chr7 | 74056672:74056713:74057640:74057696:74059886:74060047 | 74057640:74057696 |
| exon_skip_99680 | chr7 | 74063621:74063695:74065694:74065732:74066732:74066776 | 74065694:74065732 |
| 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 ELN |
| 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 |
| ENST00000380562 | 74036555 | 74036584 | In-frame |
| ENST00000380562 | 74041216 | 74041251 | In-frame |
| ENST00000380562 | 74046188 | 74046217 | In-frame |
| ENST00000380562 | 74047675 | 74047716 | In-frame |
| ENST00000380562 | 74054716 | 74054769 | In-frame |
| ENST00000380562 | 74060140 | 74060184 | In-frame |
| ENST00000380562 | 74065944 | 74065997 | In-frame |
| ENST00000380562 | 74066732 | 74066776 | In-frame |
| 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 |
| ENST00000380562 | 74036555 | 74036584 | In-frame |
| ENST00000380562 | 74041216 | 74041251 | In-frame |
| ENST00000380562 | 74045222 | 74045293 | In-frame |
| ENST00000380562 | 74046188 | 74046217 | In-frame |
| ENST00000380562 | 74047675 | 74047716 | In-frame |
| ENST00000380562 | 74065944 | 74065997 | In-frame |
| 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 |
| ENST00000380562 | 74035364 | 74035414 | In-frame |
| ENST00000380562 | 74036555 | 74036584 | In-frame |
| ENST00000380562 | 74041216 | 74041251 | In-frame |
| ENST00000380562 | 74042614 | 74042706 | In-frame |
| ENST00000380562 | 74042984 | 74043034 | In-frame |
| ENST00000380562 | 74045222 | 74045293 | In-frame |
| ENST00000380562 | 74046188 | 74046217 | In-frame |
| ENST00000380562 | 74047675 | 74047716 | In-frame |
| ENST00000380562 | 74054716 | 74054769 | In-frame |
| ENST00000380562 | 74056271 | 74056435 | In-frame |
| ENST00000380562 | 74060140 | 74060184 | In-frame |
| ENST00000380562 | 74060376 | 74060501 | In-frame |
| ENST00000380562 | 74065944 | 74065997 | In-frame |
| ENST00000380562 | 74066732 | 74066776 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ELN |
p-ENSG00000049540_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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in ELN |
| 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 ELN |
| - 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 ELN |
| 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 ELN |
| 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 ELN |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SAMD4A | exon_skip_243502 | -5.710726e-01 | 4.695955e-15 |
| CB | HNRNPA2B1 | exon_skip_243502 | -5.184438e-01 | 3.008570e-12 |
| CB | DAZAP1 | exon_skip_85132 | -4.688023e-01 | 5.218487e-10 |
| CB | RBM6 | exon_skip_85132 | -4.105603e-01 | 8.423250e-08 |
| CB | SAMD4A | exon_skip_85132 | -4.488580e-01 | 3.317803e-09 |
| CB | CNOT4 | exon_skip_85132 | -4.115680e-01 | 7.775246e-08 |
| CB | PCBP4 | exon_skip_85132 | 5.268264e-01 | 1.156969e-12 |
| CB | TRA2A | exon_skip_85132 | -4.240622e-01 | 2.818751e-08 |
| CB | KHSRP | exon_skip_85132 | -4.090639e-01 | 9.481897e-08 |
| CB | RBM4 | exon_skip_85132 | -6.324928e-01 | 4.928695e-19 |
| CB | RBM4B | exon_skip_85132 | -4.731508e-01 | 3.431123e-10 |
| CB | RBM6 | exon_skip_258075 | -4.929369e-01 | 4.092583e-11 |
| CB | NUP42 | exon_skip_106346 | 4.050470e-01 | 2.485650e-07 |
| CB | RBM6 | exon_skip_27040 | -4.433191e-01 | 4.853871e-09 |
| CB | SAMD4A | exon_skip_27040 | -4.735753e-01 | 2.890986e-10 |
| CB | NUP42 | exon_skip_27040 | 4.135706e-01 | 6.015091e-08 |
| CB | SRSF4 | exon_skip_27040 | -4.671328e-01 | 5.395176e-10 |
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RelatedDrugs for ELN |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P15502 | approved|investigational|withdrawn | DB00533 | Rofecoxib | small molecule | P15502 |
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RelatedDiseases for ELN |
| 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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