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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 HECTD4 |
 Gene summary |
| Gene information | Gene symbol | HECTD4 | Gene ID | 283450 |
| Gene name | HECT domain E3 ubiquitin protein ligase 4 | |
| Synonyms | C12ord51|C12orf51|HEEL|POTAGE | |
| Cytomap | 12q24.13 | |
| Type of gene | protein-coding | |
| Description | probable E3 ubiquitin-protein ligase HECTD4AF-1 specific protein phosphataseHECT domain containing E3 ubiquitin protein ligase 4HECT domain-containing protein 4HECT-type E3 ubiquitin transferase HECTD4probable E3 ubiquitin-protein ligase C12orf51tra | |
| Modification date | 20200313 | |
| UniProtAcc | A0A286P059, | |
| 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 HECTD4 |
| 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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ENSG00000173064
| 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 |
| STG | UP | ENST00000651701.1 | HECTD4-215:nonsense_mediated_decay:HECTD4 | 1.779115e+01 | 1.608132e+00 | 2.375466e-04 | 1.830054e-02 |
| CB | DOWN | ENST00000549306.1 | HECTD4-210:lncRNA:HECTD4 | 7.608915e+01 | -2.742606e+00 | 1.257592e-11 | 1.183942e-09 |
| CB | DOWN | ENST00000549141.1 | HECTD4-209:lncRNA:HECTD4 | 3.246566e+02 | -8.804672e-01 | 2.476176e-07 | 4.572053e-06 |
| TC | DOWN | ENST00000549306.1 | HECTD4-210:lncRNA:HECTD4 | 5.875622e+01 | -1.447215e+00 | 3.503722e-04 | 4.345096e-03 |
| 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 HECTD4 |
| 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_110649 | chr12 | 112226643:112226758:112228089:112228258:112228647:112228804 | 112228089:112228258 |
| exon_skip_113167 | chr12 | 112200638:112200798:112203636:112203772:112204486:112204623 | 112203636:112203772 |
| exon_skip_113177 | chr12 | 112265175:112265295:112265878:112265983:112266912:112266982 | 112265878:112265983 |
| exon_skip_118418 | chr12 | 112314457:112314546:112319225:112319742:112381952:112382092 | 112319225:112319742 |
| exon_skip_120298 | chr12 | 112273655:112273795:112274847:112274960:112279228:112279386 | 112274847:112274960 |
| exon_skip_125167 | chr12 | 112274847:112274960:112279228:112279386:112283110:112283302 | 112279228:112279386 |
| exon_skip_143236 | chr12 | 112179174:112179397:112183059:112183266:112184187:112185493 | 112183059:112183266 |
| exon_skip_152484 | chr12 | 112194997:112195066:112200638:112200798:112203636:112203772 | 112200638:112200798 |
| exon_skip_161534 | chr12 | 112203636:112203772:112204486:112204623:112207874:112208000 | 112204486:112204623 |
| exon_skip_165529 | chr12 | 112167814:112167917:112168633:112168806:112169503:112169620 | 112168633:112168806 |
| exon_skip_189369 | chr12 | 112208494:112208630:112210015:112210252:112212487:112212650 | 112210015:112210252 |
| exon_skip_192291 | chr12 | 112217034:112217195:112219386:112219489:112226643:112226758 | 112219386:112219489 |
| exon_skip_194657 | chr12 | 112210015:112210252:112212487:112212650:112216292:112216371 | 112212487:112212650 |
| exon_skip_195346 | chr12 | 112163542:112163737:112164109:112164275:112167317:112167463 | 112164109:112164275 |
| exon_skip_204221 | chr12 | 112170333:112170452:112171117:112171263:112172671:112172861 | 112171117:112171263 |
| exon_skip_204972 | chr12 | 112228647:112228811:112229698:112229880:112230687:112230822 | 112229698:112229880 |
| exon_skip_20699 | chr12 | 112172671:112172861:112175736:112175859:112176596:112176699 | 112175736:112175859 |
| exon_skip_210973 | chr12 | 112179174:112179397:112183059:112183266:112184187:112185427 | 112183059:112183266 |
| exon_skip_22511 | chr12 | 112246901:112247076:112247462:112247550:112248067:112248171 | 112247462:112247550 |
| exon_skip_240212 | chr12 | 112219386:112219489:112226643:112226758:112228089:112228176 | 112226643:112226758 |
| exon_skip_263915 | chr12 | 112168633:112168806:112169503:112169658:112170333:112170452 | 112169503:112169658 |
| exon_skip_274008 | chr12 | 112270227:112270459:112273655:112273795:112274847:112274960 | 112273655:112273795 |
| exon_skip_281499 | chr12 | 112170333:112170452:112171117:112171347:112172671:112172861 | 112171117:112171347 |
| exon_skip_295313 | chr12 | 112248320:112248512:112250144:112250377:112250971:112251134 | 112250144:112250377 |
| exon_skip_46723 | chr12 | 112167814:112167917:112169503:112169658:112170333:112170452 | 112169503:112169658 |
| exon_skip_54813 | chr12 | 112261305:112261429:112264090:112264212:112265175:112265295 | 112264090:112264212 |
| exon_skip_64588 | chr12 | 112167814:112167917:112168633:112168806:112169503:112169658 | 112168633:112168806 |
| exon_skip_65686 | chr12 | 112219386:112219489:112226643:112226758:112228089:112228146 | 112226643:112226758 |
| exon_skip_66188 | chr12 | 112163542:112163737:112164109:112164275:112167317:112167538 | 112164109:112164275 |
| exon_skip_75997 | chr12 | 112261305:112261429:112264084:112264212:112265175:112265295 | 112264084:112264212 |
| exon_skip_81689 | chr12 | 112231513:112231715:112233004:112233085:112235077:112235266 | 112233004:112233085 |
| exon_skip_90958 | chr12 | 112250971:112251134:112252424:112252528:112254043:112254162 | 112252424:112252528 |
| exon_skip_93629 | chr12 | 112269704:112269849:112270227:112270459:112273655:112273793 | 112270227:112270459 |
| 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 HECTD4 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for HECTD4 |
| 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 HECTD4 |
| 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 HECTD4 |
| - 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 HECTD4 |
| 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 HECTD4 |
| 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 HECTD4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | RBM6 | exon_skip_195346 | -4.301065e-01 | 1.699710e-08 |
| CB | PCBP1 | exon_skip_195346 | -4.160706e-01 | 5.419664e-08 |
| CB | NUP42 | exon_skip_195346 | 4.505638e-01 | 2.845430e-09 |
| CB | RBM23 | exon_skip_195346 | -4.108644e-01 | 8.222466e-08 |
| CB | NUP42 | exon_skip_22511 | 4.580517e-01 | 2.626546e-09 |
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RelatedDrugs for HECTD4 |
| 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 HECTD4 |
| 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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