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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 DNAH17 |
 Gene summary |
| Gene information | Gene symbol | DNAH17 | Gene ID | 8632 |
| Gene name | dynein axonemal heavy chain 17 | |
| Synonyms | DNAHL1|DNEL2|SPGF39 | |
| Cytomap | 17q25.3 | |
| Type of gene | protein-coding | |
| Description | dynein heavy chain 17, axonemalaxonemal beta dynein heavy chain 17axonemal dynein heavy chain-like protein 1ciliary dynein heavy chain 17ciliary dynein heavy chain-like protein 1dynein light chain 2, axonemaldynein, axonemal, heavy polypeptide 17 | |
| Modification date | 20200320 | |
| UniProtAcc | ||
| 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 DNAH17 |
| 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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ENSG00000187775
| 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 |
| PG | UP | ENST00000592192.2 | DNAH17-211:lncRNA:DNAH17 | 1.833394e+00 | 9.919673e-01 | 2.038868e-04 | 4.627570e-03 |
| CB | DOWN | ENST00000598378.2 | DNAH17-AS1-203:retained_intron:DNAH17 | 9.431347e+00 | -8.970002e-01 | 1.307816e-03 | 6.473581e-03 |
| TC | DOWN | ENST00000598378.2 | DNAH17-AS1-203:retained_intron:DNAH17 | 1.917198e+01 | -1.096079e+00 | 1.224214e-07 | 7.224280e-06 |
| TC | DOWN | ENST00000591373.2 | DNAH17-AS1-202:lncRNA:DNAH17 | 1.198933e+01 | -1.379669e+00 | 1.345260e-06 | 5.097756e-05 |
| TC | DOWN | ENST00000663269.1 | DNAH17-AS1-204:lncRNA:DNAH17 | 1.934910e+01 | -1.019826e+00 | 1.667666e-05 | 3.890731e-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 DNAH17 |
| 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_197941 | chr17 | 78445558:78445680:78449414:78449584:78450254:78450394 | 78449414:78449584 |
| exon_skip_198641 | chr17 | 78439090:78439217:78441051:78441199:78444604:78444797 | 78441051:78441199 |
| exon_skip_216479 | chr17 | 78434029:78434220:78437641:78437868:78439090:78439217 | 78437641:78437868 |
| exon_skip_246584 | chr17 | 78494593:78494820:78494959:78495097:78495875:78496032 | 78494959:78495097 |
| exon_skip_58323 | chr17 | 78451496:78451673:78453343:78453465:78454470:78454705 | 78453343:78453465 |
| exon_skip_79912 | chr17 | 78490699:78490847:78491443:78491570:78492633:78492765 | 78491443:78491570 |
| 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 DNAH17 |
| 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 |
| ENST00000389840 | 78453343 | 78453465 | 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 |
| 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 |
| ENST00000389840 | 78441051 | 78441199 | Frame-shift |
| ENST00000389840 | 78491443 | 78491570 | Frame-shift |
| ENST00000389840 | 78494959 | 78495097 | Frame-shift |
| ENST00000389840 | 78437641 | 78437868 | In-frame |
| ENST00000389840 | 78449414 | 78449584 | In-frame |
| ENST00000389840 | 78453343 | 78453465 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNAH17 |
p-ENSG00000187775_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 |
| ENST00000389840 | 13740 | 4462 | 78453343 | 78453465 | 10532 | 10653 | 3469 | 3509 |
| 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 |
| ENST00000389840 | 13740 | 4462 | 78453343 | 78453465 | 10532 | 10653 | 3469 | 3509 |
| ENST00000389840 | 13740 | 4462 | 78449414 | 78449584 | 11166 | 11335 | 3680 | 3736 |
| ENST00000389840 | 13740 | 4462 | 78437641 | 78437868 | 11931 | 12157 | 3935 | 4010 |
| 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 |
| Q9UFH2 | 3469 | 3509 | 865 | 4462 | Alternative sequence | ID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9UFH2 | 3469 | 3509 | 1 | 4462 | Chain | ID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal |
| Q9UFH2 | 3469 | 3509 | 3405 | 3632 | Region | Note=AAA 5;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9UFH2 | 3469 | 3509 | 3478 | 3478 | Sequence conflict | Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UFH2 | 3469 | 3509 | 3496 | 3496 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q9UFH2 | 3469 | 3509 | 865 | 4462 | Alternative sequence | ID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9UFH2 | 3469 | 3509 | 1 | 4462 | Chain | ID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal |
| Q9UFH2 | 3469 | 3509 | 3405 | 3632 | Region | Note=AAA 5;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9UFH2 | 3469 | 3509 | 3478 | 3478 | Sequence conflict | Note=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UFH2 | 3469 | 3509 | 3496 | 3496 | Sequence conflict | Note=V->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UFH2 | 3680 | 3736 | 865 | 4462 | Alternative sequence | ID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9UFH2 | 3680 | 3736 | 1 | 4462 | Chain | ID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal |
| Q9UFH2 | 3935 | 4010 | 865 | 4462 | Alternative sequence | ID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9UFH2 | 3935 | 4010 | 1 | 4462 | Chain | ID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal |
| Q9UFH2 | 3935 | 4010 | 3842 | 4068 | Region | Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q9UFH2 | 3935 | 4010 | 3953 | 3953 | Sequence conflict | Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UFH2 | 3935 | 4010 | 3958 | 3958 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UFH2 | 3935 | 4010 | 3967 | 3967 | Sequence conflict | Note=S->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UFH2 | 3935 | 4010 | 3999 | 3999 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UFH2 | 3935 | 4010 | 4003 | 4003 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DNAH17 |
| 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 DNAH17 |
| - 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 DNAH17 |
| 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 DNAH17 |
| 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 DNAH17 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DNAH17 |
| 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 DNAH17 |
| 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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