|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for HUWE1 |
 Gene summary |
| Gene information | Gene symbol | HUWE1 | Gene ID | 10075 |
| Gene name | HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | |
| Synonyms | ARF-BP1|HECTH9|HSPC272|Ib772|LASU1|MRXST|MULE|URE-B1|UREB1 | |
| Cytomap | Xp11.22 | |
| Type of gene | protein-coding | |
| Description | E3 ubiquitin-protein ligase HUWE1ARF-binding protein 1BJ-HCC-24 tumor antigenHECT domain protein LASU1HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligaseHECT-type E3 ubiquitin transferase HUWE1Mcl-1 ubiquitin ligase E3URE-binding pro | |
| Modification date | 20200313 | |
| UniProtAcc | A0A024R9U8, A0A024R9W5, A0A024R9Y3, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| HUWE1 | GO:0000209 | protein polyubiquitination | 15989957 |
| HUWE1 | GO:0006513 | protein monoubiquitination | 19713937 |
| HUWE1 | GO:0016574 | histone ubiquitination | 15767685 |
| HUWE1 | GO:0031398 | positive regulation of protein ubiquitination | 20534529 |
| HUWE1 | GO:0098779 | positive regulation of mitophagy in response to mitochondrial depolarization | 30217973 |
Top |
Gene structures and expression levels for HUWE1 |
| 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. |
 |
ENSG00000086758
| 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 |
| PG | UP | ENST00000474971.1 | HUWE1-210:retained_intron:HUWE1 | 4.809388e+00 | 1.234853e+00 | 1.188292e-04 | 3.118734e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HUWE1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_109666 | chrX | 53604589:53604834:53607523:53607699:53608852:53608909 | 53607523:53607699 |
| exon_skip_110549 | chrX | 53562111:53562244:53562831:53562929:53563746:53563821 | 53562831:53562929 |
| exon_skip_124006 | chrX | 53645311:53645463:53647368:53647574:53648212:53648310 | 53647368:53647574 |
| exon_skip_153958 | chrX | 53625157:53625258:53625786:53626034:53627410:53627515 | 53625786:53626034 |
| exon_skip_164483 | chrX | 53631567:53631614:53632487:53632564:53634236:53634298 | 53632487:53632564 |
| exon_skip_2148 | chrX | 53654063:53654131:53680049:53680186:53686270:53686368 | 53680049:53680186 |
| exon_skip_228 | chrX | 53543886:53543968:53545029:53545161:53546436:53546592 | 53545029:53545161 |
| exon_skip_232219 | chrX | 53562211:53562244:53562831:53562929:53563746:53563821 | 53562831:53562929 |
| exon_skip_239492 | chrX | 53538337:53538454:53538835:53539080:53539657:53539812 | 53538835:53539080 |
| exon_skip_252605 | chrX | 53680049:53680186:53686270:53686368:53686588:53686719 | 53686270:53686368 |
| exon_skip_257042 | chrX | 53680071:53680186:53686270:53686368:53686588:53686719 | 53686270:53686368 |
| exon_skip_263513 | chrX | 53631414:53631482:53631567:53631614:53632487:53632564 | 53631567:53631614 |
| exon_skip_275117 | chrX | 53614534:53614745:53615744:53615835:53616970:53617147 | 53615744:53615835 |
| exon_skip_275705 | chrX | 53565067:53565239:53568692:53568874:53569616:53569827 | 53568692:53568874 |
| exon_skip_275960 | chrX | 53634236:53634298:53645311:53645463:53647368:53647574 | 53645311:53645463 |
| exon_skip_278814 | chrX | 53608852:53608909:53614534:53614745:53615744:53615835 | 53614534:53614745 |
| exon_skip_43078 | chrX | 53680071:53680186:53680559:53680694:53683874:53684169 | 53680559:53680694 |
| exon_skip_55244 | chrX | 53547673:53548273:53548959:53549505:53550666:53550768 | 53548959:53549505 |
| exon_skip_5619 | chrX | 53543886:53543968:53544560:53544762:53545029:53545161 | 53544560:53544762 |
| exon_skip_95629 | chrX | 53680049:53680186:53680559:53680694:53683874:53684169 | 53680559:53680694 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for HUWE1 |
| 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 |
| ENST00000262854 | 53680049 | 53680186 | 3UTR-3UTR |
| ENST00000262854 | 53686270 | 53686368 | 3UTR-3UTR |
| ENST00000262854 | 53544560 | 53544762 | Frame-shift |
| ENST00000342160 | 53544560 | 53544762 | Frame-shift |
| ENST00000262854 | 53548959 | 53549505 | Frame-shift |
| ENST00000342160 | 53548959 | 53549505 | Frame-shift |
| ENST00000262854 | 53615744 | 53615835 | Frame-shift |
| ENST00000342160 | 53615744 | 53615835 | Frame-shift |
| ENST00000262854 | 53538835 | 53539080 | In-frame |
| ENST00000342160 | 53538835 | 53539080 | In-frame |
| ENST00000262854 | 53562831 | 53562929 | In-frame |
| ENST00000342160 | 53562831 | 53562929 | In-frame |
| ENST00000262854 | 53607523 | 53607699 | In-frame |
| ENST00000342160 | 53607523 | 53607699 | In-frame |
| ENST00000262854 | 53632487 | 53632564 | In-frame |
| ENST00000342160 | 53632487 | 53632564 | 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 |
| ENST00000262854 | 53680049 | 53680186 | 3UTR-3UTR |
| ENST00000262854 | 53686270 | 53686368 | 3UTR-3UTR |
| ENST00000262854 | 53562831 | 53562929 | In-frame |
| ENST00000342160 | 53562831 | 53562929 | In-frame |
| ENST00000262854 | 53607523 | 53607699 | In-frame |
| ENST00000342160 | 53607523 | 53607699 | In-frame |
| ENST00000262854 | 53647368 | 53647574 | In-frame |
| ENST00000342160 | 53647368 | 53647574 | 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 |
| ENST00000262854 | 53680049 | 53680186 | 3UTR-3UTR |
| ENST00000262854 | 53686270 | 53686368 | 3UTR-3UTR |
| ENST00000262854 | 53544560 | 53544762 | Frame-shift |
| ENST00000342160 | 53544560 | 53544762 | Frame-shift |
| ENST00000262854 | 53548959 | 53549505 | Frame-shift |
| ENST00000342160 | 53548959 | 53549505 | Frame-shift |
| ENST00000262854 | 53614534 | 53614745 | Frame-shift |
| ENST00000342160 | 53614534 | 53614745 | Frame-shift |
| ENST00000262854 | 53615744 | 53615835 | Frame-shift |
| ENST00000342160 | 53615744 | 53615835 | Frame-shift |
| ENST00000262854 | 53562831 | 53562929 | In-frame |
| ENST00000342160 | 53562831 | 53562929 | In-frame |
| ENST00000262854 | 53568692 | 53568874 | In-frame |
| ENST00000342160 | 53568692 | 53568874 | In-frame |
| ENST00000262854 | 53607523 | 53607699 | In-frame |
| ENST00000342160 | 53607523 | 53607699 | In-frame |
| ENST00000262854 | 53631567 | 53631614 | In-frame |
| ENST00000342160 | 53631567 | 53631614 | In-frame |
| ENST00000262854 | 53645311 | 53645463 | In-frame |
| ENST00000342160 | 53645311 | 53645463 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for HUWE1 |
p-ENSG00000086758_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 |
| ENST00000262854 | 14756 | 4374 | 53632487 | 53632564 | 971 | 1047 | 189 | 214 |
| ENST00000342160 | 14813 | 4374 | 53632487 | 53632564 | 1026 | 1102 | 189 | 214 |
| ENST00000262854 | 14756 | 4374 | 53607523 | 53607699 | 2723 | 2898 | 773 | 831 |
| ENST00000342160 | 14813 | 4374 | 53607523 | 53607699 | 2778 | 2953 | 773 | 831 |
| ENST00000262854 | 14756 | 4374 | 53562831 | 53562929 | 7509 | 7606 | 2368 | 2401 |
| ENST00000342160 | 14813 | 4374 | 53562831 | 53562929 | 7564 | 7661 | 2368 | 2401 |
| ENST00000262854 | 14756 | 4374 | 53538835 | 53539080 | 12036 | 12280 | 3877 | 3959 |
| ENST00000342160 | 14813 | 4374 | 53538835 | 53539080 | 12091 | 12335 | 3877 | 3959 |
| 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 |
| ENST00000262854 | 14756 | 4374 | 53647368 | 53647574 | 548 | 753 | 48 | 116 |
| ENST00000342160 | 14813 | 4374 | 53647368 | 53647574 | 603 | 808 | 48 | 116 |
| ENST00000262854 | 14756 | 4374 | 53607523 | 53607699 | 2723 | 2898 | 773 | 831 |
| ENST00000342160 | 14813 | 4374 | 53607523 | 53607699 | 2778 | 2953 | 773 | 831 |
| ENST00000262854 | 14756 | 4374 | 53562831 | 53562929 | 7509 | 7606 | 2368 | 2401 |
| ENST00000342160 | 14813 | 4374 | 53562831 | 53562929 | 7564 | 7661 | 2368 | 2401 |
| 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 |
| ENST00000262854 | 14756 | 4374 | 53645311 | 53645463 | 755 | 906 | 117 | 167 |
| ENST00000342160 | 14813 | 4374 | 53645311 | 53645463 | 810 | 961 | 117 | 167 |
| ENST00000262854 | 14756 | 4374 | 53631567 | 53631614 | 1049 | 1095 | 215 | 230 |
| ENST00000342160 | 14813 | 4374 | 53631567 | 53631614 | 1104 | 1150 | 215 | 230 |
| ENST00000262854 | 14756 | 4374 | 53607523 | 53607699 | 2723 | 2898 | 773 | 831 |
| ENST00000342160 | 14813 | 4374 | 53607523 | 53607699 | 2778 | 2953 | 773 | 831 |
| ENST00000262854 | 14756 | 4374 | 53568692 | 53568874 | 6928 | 7109 | 2175 | 2235 |
| ENST00000342160 | 14813 | 4374 | 53568692 | 53568874 | 6983 | 7164 | 2175 | 2235 |
| ENST00000262854 | 14756 | 4374 | 53562831 | 53562929 | 7509 | 7606 | 2368 | 2401 |
| ENST00000342160 | 14813 | 4374 | 53562831 | 53562929 | 7564 | 7661 | 2368 | 2401 |
| 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 |
| Q7Z6Z7 | 189 | 214 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 189 | 214 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 773 | 831 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 773 | 831 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 2295 | 2469 | Compositional bias | Note=Glu-rich |
| Q7Z6Z7 | 2368 | 2401 | 2295 | 2469 | Compositional bias | Note=Glu-rich |
| Q7Z6Z7 | 2368 | 2401 | 2391 | 2391 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q7Z6Z7 | 2368 | 2401 | 2391 | 2391 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q7Z6Z7 | 3877 | 3959 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 3877 | 3959 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 3877 | 3959 | 3952 | 3972 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LP8 |
| Q7Z6Z7 | 3877 | 3959 | 3952 | 3972 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5LP8 |
| Q7Z6Z7 | 3877 | 3959 | 3906 | 3906 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q7Z6Z7 | 3877 | 3959 | 3906 | 3906 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q7Z6Z7 | 3877 | 3959 | 3919 | 3919 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID |
| Q7Z6Z7 | 3877 | 3959 | 3919 | 3919 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:20068231,PMID |
| Q7Z6Z7 | 3877 | 3959 | 3924 | 3924 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:24275569 |
| Q7Z6Z7 | 3877 | 3959 | 3924 | 3924 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:19690332,PMID:24275569 |
| Q7Z6Z7 | 3877 | 3959 | 3927 | 3927 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569 |
| Q7Z6Z7 | 3877 | 3959 | 3927 | 3927 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:24275569;Dbxref=PMID:18669648,PMID:24275569 |
| 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 |
| Q7Z6Z7 | 48 | 116 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 48 | 116 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 773 | 831 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 773 | 831 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 2295 | 2469 | Compositional bias | Note=Glu-rich |
| Q7Z6Z7 | 2368 | 2401 | 2295 | 2469 | Compositional bias | Note=Glu-rich |
| Q7Z6Z7 | 2368 | 2401 | 2391 | 2391 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q7Z6Z7 | 2368 | 2401 | 2391 | 2391 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| 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 |
| Q7Z6Z7 | 117 | 167 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 117 | 167 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 215 | 230 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 215 | 230 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 773 | 831 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 773 | 831 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2175 | 2235 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2175 | 2235 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 1 | 4374 | Chain | ID=PRO_0000120340;Note=E3 ubiquitin-protein ligase HUWE1 |
| Q7Z6Z7 | 2368 | 2401 | 2295 | 2469 | Compositional bias | Note=Glu-rich |
| Q7Z6Z7 | 2368 | 2401 | 2295 | 2469 | Compositional bias | Note=Glu-rich |
| Q7Z6Z7 | 2368 | 2401 | 2391 | 2391 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| Q7Z6Z7 | 2368 | 2401 | 2391 | 2391 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in HUWE1 |
| 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 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-4481 | chrX:53680160-53680167 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1260b | chrX:53680078-53680085 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-8079 | chrX:53680151-53680158 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1260a | chrX:53680078-53680085 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-4745-5p | chrX:53680160-53680167 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1245a | chrX:53680151-53680158 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-425-3p | chrX:53680109-53680116 | 8mer-1a | chrX:53680104-53680124 | 155.00 | -24.47 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-491-5p | chrX:53680088-53680095 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| Mayo | ENST00000262854 | 53680049 | 53680186 | hsa-miR-6081 | chrX:53680096-53680103 | 8mer-1a | chrX:53680080-53680103 | 154.00 | -24.08 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-4481 | chrX:53680160-53680167 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1260b | chrX:53680078-53680085 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-8079 | chrX:53680151-53680158 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1260a | chrX:53680078-53680085 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-4745-5p | chrX:53680160-53680167 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1245a | chrX:53680151-53680158 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-425-3p | chrX:53680109-53680116 | 8mer-1a | chrX:53680104-53680124 | 155.00 | -24.47 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-491-5p | chrX:53680088-53680095 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| MSBB | ENST00000262854 | 53680049 | 53680186 | hsa-miR-6081 | chrX:53680096-53680103 | 8mer-1a | chrX:53680080-53680103 | 154.00 | -24.08 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-4481 | chrX:53680160-53680167 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1260b | chrX:53680078-53680085 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-8079 | chrX:53680151-53680158 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1260a | chrX:53680078-53680085 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-4745-5p | chrX:53680160-53680167 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-1245a | chrX:53680151-53680158 | 8mer-1a | chrX:53680151-53680167 | 159.00 | -23.74 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-425-3p | chrX:53680109-53680116 | 8mer-1a | chrX:53680104-53680124 | 155.00 | -24.47 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-491-5p | chrX:53680088-53680095 | 8mer-1a | chrX:53680072-53680095 | 159.00 | -28.03 |
| ROSMAP | ENST00000262854 | 53680049 | 53680186 | hsa-miR-6081 | chrX:53680096-53680103 | 8mer-1a | chrX:53680080-53680103 | 154.00 | -24.08 |
Top |
SNVs in the skipped exons for HUWE1 |
| - 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 |
Top |
AD stage-associated exon skippint events for HUWE1 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HUWE1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for HUWE1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM45 | exon_skip_153958 | -4.118094e-01 | 2.415268e-07 |
| CB | RBM4 | exon_skip_252605 | -4.576519e-01 | 3.910059e-09 |
| HCC | SRSF2 | exon_skip_153958 | -4.060072e-01 | 7.370358e-12 |
| HCC | ZCRB1 | exon_skip_153958 | -4.309881e-01 | 2.544584e-13 |
| IFG | KHDRBS2 | exon_skip_153958 | 4.073470e-01 | 3.143633e-02 |
| IFG | NOVA1 | exon_skip_153958 | 4.456482e-01 | 1.746760e-02 |
| IFG | TARDBP | exon_skip_2148 | -4.575140e-01 | 1.877052e-02 |
| IFG | PCBP2 | exon_skip_2148 | -5.412737e-01 | 4.296375e-03 |
| IFG | EWSR1 | exon_skip_2148 | -5.301057e-01 | 5.344027e-03 |
| IFG | SRSF4 | exon_skip_2148 | -5.044057e-01 | 8.596762e-03 |
| IFG | RBM4B | exon_skip_2148 | -4.157763e-01 | 3.464370e-02 |
| PCC | SRSF2 | exon_skip_153958 | -4.391041e-01 | 8.707070e-11 |
| PCC | HNRNPK | exon_skip_153958 | -4.302279e-01 | 2.266263e-10 |
| PCC | ZCRB1 | exon_skip_153958 | -4.858852e-01 | 3.473714e-13 |
| PG | SRSF2 | exon_skip_153958 | -4.816921e-01 | 7.533625e-11 |
| PG | ZNF326 | exon_skip_153958 | -5.219154e-01 | 9.035906e-13 |
| PG | RBM6 | exon_skip_153958 | -4.217135e-01 | 2.066191e-08 |
| PG | SRSF11 | exon_skip_153958 | -5.339321e-01 | 2.145250e-13 |
| PG | HNRNPK | exon_skip_153958 | -4.278611e-01 | 1.220289e-08 |
| PG | PCBP2 | exon_skip_153958 | -4.829174e-01 | 6.639066e-11 |
| PG | RC3H1 | exon_skip_153958 | -4.663839e-01 | 3.506410e-10 |
| PG | RBM45 | exon_skip_153958 | -5.202192e-01 | 1.101934e-12 |
| PG | NUP42 | exon_skip_153958 | -4.470972e-01 | 2.191074e-09 |
| PG | EIF4G2 | exon_skip_153958 | -4.019865e-01 | 1.044429e-07 |
| PG | PABPC1 | exon_skip_153958 | -4.047958e-01 | 8.344780e-08 |
| PG | NOVA1 | exon_skip_153958 | -4.378056e-01 | 5.089839e-09 |
Top |
RelatedDrugs for HUWE1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for HUWE1 |
| 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)
|