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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 AREL1 |
 Gene summary |
| Gene information | Gene symbol | AREL1 | Gene ID | 9870 |
| Gene name | apoptosis resistant E3 ubiquitin protein ligase 1 | |
| Synonyms | FIEL1|KIAA0317 | |
| Cytomap | 14q24.3 | |
| Type of gene | protein-coding | |
| Description | apoptosis-resistant E3 ubiquitin protein ligase 1apoptosis-resistant HECT-type E3 ubiquitin transferase 1fibrosis-inducing E3 ligase 1 | |
| Modification date | 20200327 | |
| UniProtAcc | G3V245, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| AREL1 | GO:0006511 | ubiquitin-dependent protein catabolic process | 23479728 |
| AREL1 | GO:0043066 | negative regulation of apoptotic process | 23479728 |
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Gene structures and expression levels for AREL1 |
| 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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ENSG00000119682
| 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. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| 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 AREL1 |
| 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_128719 | chr14 | 74667319:74667377:74667465:74667594:74669649:74669774 | 74667465:74667594 |
| exon_skip_131385 | chr14 | 74669947:74670142:74670762:74670871:74671408:74671483 | 74670762:74670871 |
| exon_skip_163378 | chr14 | 74692102:74692328:74698764:74698856:74712933:74713067 | 74698764:74698856 |
| exon_skip_213373 | chr14 | 74684484:74684680:74685600:74685660:74692041:74692328 | 74685600:74685660 |
| exon_skip_222453 | chr14 | 74692102:74692328:74698764:74698856:74701669:74701774 | 74698764:74698856 |
| exon_skip_235159 | chr14 | 74669687:74669774:74669947:74670126:74670762:74670871 | 74669947:74670126 |
| exon_skip_255432 | chr14 | 74698764:74698856:74701669:74701774:74712933:74713087 | 74701669:74701774 |
| exon_skip_267829 | chr14 | 74667465:74667594:74669649:74669774:74669947:74670126 | 74669649:74669774 |
| exon_skip_286445 | chr14 | 74676583:74676752:74678179:74678329:74683296:74683395 | 74678179:74678329 |
| exon_skip_292718 | chr14 | 74670071:74670126:74670762:74670871:74671408:74671483 | 74670762:74670871 |
| exon_skip_44011 | chr14 | 74669687:74669774:74669947:74670142:74670762:74670871 | 74669947:74670142 |
| exon_skip_51459 | chr14 | 74692102:74692328:74698764:74698856:74712933:74713098 | 74698764:74698856 |
| exon_skip_62546 | chr14 | 74676583:74676752:74678179:74678329:74683296:74683350 | 74678179:74678329 |
| exon_skip_64152 | chr14 | 74683389:74683533:74684454:74684680:74685600:74685646 | 74684454:74684680 |
| exon_skip_68691 | chr14 | 74698764:74698856:74701669:74701774:74712933:74713067 | 74701669:74701774 |
| exon_skip_80957 | chr14 | 74671408:74671483:74671969:74672020:74672831:74672949 | 74671969:74672020 |
| 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 AREL1 |
| 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 |
| ENST00000356357 | 74667465 | 74667594 | Frame-shift |
| ENST00000356357 | 74684454 | 74684680 | Frame-shift |
| ENST00000356357 | 74669947 | 74670126 | 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 |
| ENST00000356357 | 74684454 | 74684680 | Frame-shift |
| ENST00000356357 | 74669947 | 74670126 | 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 |
| ENST00000356357 | 74685600 | 74685660 | 3UTR-3CDS |
| ENST00000356357 | 74667465 | 74667594 | Frame-shift |
| ENST00000356357 | 74670762 | 74670871 | Frame-shift |
| ENST00000356357 | 74684454 | 74684680 | Frame-shift |
| ENST00000356357 | 74669649 | 74669774 | In-frame |
| ENST00000356357 | 74669947 | 74670126 | In-frame |
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Infer the effects of exon skipping event on protein functional features for AREL1 |
p-ENSG00000119682_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 |
| ENST00000356357 | 5473 | 823 | 74669947 | 74670126 | 2125 | 2303 | 536 | 595 |
| 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 |
| ENST00000356357 | 5473 | 823 | 74669947 | 74670126 | 2125 | 2303 | 536 | 595 |
| 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 |
| ENST00000356357 | 5473 | 823 | 74669947 | 74670126 | 2125 | 2303 | 536 | 595 |
| ENST00000356357 | 5473 | 823 | 74669649 | 74669774 | 2305 | 2429 | 596 | 637 |
| 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 |
| O15033 | 536 | 595 | 1 | 823 | Chain | ID=PRO_0000120349;Note=Apoptosis-resistant E3 ubiquitin protein ligase 1 |
| O15033 | 536 | 595 | 483 | 823 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
| 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 |
| O15033 | 536 | 595 | 1 | 823 | Chain | ID=PRO_0000120349;Note=Apoptosis-resistant E3 ubiquitin protein ligase 1 |
| O15033 | 536 | 595 | 483 | 823 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
| 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 |
| O15033 | 536 | 595 | 1 | 823 | Chain | ID=PRO_0000120349;Note=Apoptosis-resistant E3 ubiquitin protein ligase 1 |
| O15033 | 536 | 595 | 483 | 823 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
| O15033 | 596 | 637 | 1 | 823 | Chain | ID=PRO_0000120349;Note=Apoptosis-resistant E3 ubiquitin protein ligase 1 |
| O15033 | 596 | 637 | 483 | 823 | Domain | Note=HECT;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00104 |
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3'-UTR located exon skipping events that lost miRNA binding sites in AREL1 |
| 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 AREL1 |
| - 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 AREL1 |
| 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 AREL1 |
| 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 AREL1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for AREL1 |
| 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 AREL1 |
| 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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