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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 DYNC1I1 |
 Gene summary |
| Gene information | Gene symbol | DYNC1I1 | Gene ID | 1780 |
| Gene name | dynein cytoplasmic 1 intermediate chain 1 | |
| Synonyms | DNCI1|DNCIC1 | |
| Cytomap | 7q21.3 | |
| Type of gene | protein-coding | |
| Description | cytoplasmic dynein 1 intermediate chain 1DH IC-1cytoplasmic dynein intermediate chain 1dynein intermediate chain 1, cytosolicdynein, cytoplasmic, intermediate polypeptide 1 | |
| Modification date | 20200313 | |
| UniProtAcc | A0A0A0MTG2, | |
| 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 DYNC1I1 |
| 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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ENSG00000158560
| 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 | DOWN | ENST00000447467.6 | DYNC1I1-205:protein_coding:DYNC1I1 | 4.854312e+02 | -8.478927e-01 | 2.156914e-05 | 8.855463e-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 DYNC1I1 |
| 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_10151 | chr7 | 96035619:96035752:96039277:96039421:96076057:96076087 | 96039277:96039421 |
| exon_skip_121191 | chr7 | 96035619:96035752:96039277:96039421:96076057:96076197 | 96039277:96039421 |
| exon_skip_163426 | chr7 | 95984815:95984977:95987056:95987155:95995948:95996073 | 95987056:95987155 |
| exon_skip_172853 | chr7 | 95810392:95810506:95813196:95813337:95869883:95869998 | 95813196:95813337 |
| exon_skip_190108 | chr7 | 95772604:95772773:95802680:95802794:95804721:95804791 | 95802680:95802794 |
| exon_skip_212924 | chr7 | 95977514:95977601:95984815:95984977:95987056:95987155 | 95984815:95984977 |
| exon_skip_24443 | chr7 | 95810392:95810506:95813196:95813337:95828057:95828116 | 95813196:95813337 |
| exon_skip_250249 | chr7 | 95813280:95813337:95828057:95828116:95869883:95869907 | 95828057:95828116 |
| exon_skip_25164 | chr7 | 95810404:95810506:95813247:95813337:95869883:95869998 | 95813247:95813337 |
| exon_skip_253275 | chr7 | 96039277:96039421:96076057:96076197:96080363:96080488 | 96076057:96076197 |
| exon_skip_262470 | chr7 | 95810404:95810506:95813196:95813337:95869883:95869998 | 95813196:95813337 |
| exon_skip_282274 | chr7 | 95995948:95996073:96028175:96028321:96032667:96032780 | 96028175:96028321 |
| exon_skip_30669 | chr7 | 95813247:95813337:95828057:95828116:95869883:95869998 | 95828057:95828116 |
| exon_skip_57087 | chr7 | 95772604:95772773:95802680:95802794:95804721:95804837 | 95802680:95802794 |
| exon_skip_63093 | chr7 | 95813247:95813337:95869883:95869998:95977512:95977601 | 95869883:95869998 |
| exon_skip_75771 | chr7 | 95987056:95987155:95995948:95996073:96028175:96028321 | 95995948:95996073 |
| exon_skip_80056 | chr7 | 95810392:95810506:95813247:95813337:95869883:95869998 | 95813247:95813337 |
| exon_skip_8356 | chr7 | 95810392:95810506:95813247:95813337:95828057:95828116 | 95813247:95813337 |
| exon_skip_85109 | chr7 | 95813280:95813337:95828057:95828116:95869883:95869998 | 95828057:95828116 |
| 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 DYNC1I1 |
| 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 |
| ENST00000324972 | 95813196 | 95813337 | Frame-shift |
| ENST00000324972 | 95987056 | 95987155 | Frame-shift |
| ENST00000324972 | 96039277 | 96039421 | Frame-shift |
| ENST00000324972 | 95828057 | 95828116 | In-frame |
| ENST00000324972 | 95995948 | 95996073 | In-frame |
| ENST00000324972 | 96028175 | 96028321 | 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 |
| ENST00000324972 | 95828057 | 95828116 | In-frame |
| ENST00000324972 | 95995948 | 95996073 | 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 |
| ENST00000324972 | 95813196 | 95813337 | Frame-shift |
| ENST00000324972 | 95984815 | 95984977 | Frame-shift |
| ENST00000324972 | 96039277 | 96039421 | Frame-shift |
| ENST00000324972 | 95828057 | 95828116 | In-frame |
| ENST00000324972 | 95995948 | 95996073 | In-frame |
| ENST00000324972 | 96028175 | 96028321 | In-frame |
| ENST00000324972 | 96076057 | 96076197 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DYNC1I1 |
p-ENSG00000158560_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 |
| ENST00000324972 | 2967 | 645 | 95828057 | 95828116 | 560 | 618 | 122 | 141 |
| ENST00000324972 | 2967 | 645 | 95995948 | 95996073 | 1089 | 1213 | 298 | 340 |
| ENST00000324972 | 2967 | 645 | 96028175 | 96028321 | 1215 | 1360 | 340 | 389 |
| 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 |
| ENST00000324972 | 2967 | 645 | 95828057 | 95828116 | 560 | 618 | 122 | 141 |
| ENST00000324972 | 2967 | 645 | 95995948 | 95996073 | 1089 | 1213 | 298 | 340 |
| 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 |
| ENST00000324972 | 2967 | 645 | 95828057 | 95828116 | 560 | 618 | 122 | 141 |
| ENST00000324972 | 2967 | 645 | 95995948 | 95996073 | 1089 | 1213 | 298 | 340 |
| ENST00000324972 | 2967 | 645 | 96028175 | 96028321 | 1215 | 1360 | 340 | 389 |
| ENST00000324972 | 2967 | 645 | 96076057 | 96076197 | 1755 | 1894 | 520 | 567 |
| 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 |
| O14576 | 122 | 141 | 123 | 142 | Alternative sequence | ID=VSP_001333;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334 |
| O14576 | 122 | 141 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 122 | 141 | 2 | 123 | Region | Note=Interaction with DCTN1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14576 | 298 | 340 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 298 | 340 | 285 | 334 | Repeat | Note=WD 1 |
| O14576 | 298 | 340 | 338 | 378 | Repeat | Note=WD 2 |
| O14576 | 340 | 389 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 340 | 389 | 373 | 373 | Natural variant | ID=VAR_064709;Note=Found in a renal cell carcinoma case%3B somatic mutation. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=PMID:21248752 |
| O14576 | 340 | 389 | 338 | 378 | Repeat | Note=WD 2 |
| O14576 | 340 | 389 | 387 | 428 | Repeat | Note=WD 3 |
| 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 |
| O14576 | 122 | 141 | 123 | 142 | Alternative sequence | ID=VSP_001333;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334 |
| O14576 | 122 | 141 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 122 | 141 | 2 | 123 | Region | Note=Interaction with DCTN1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14576 | 298 | 340 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 298 | 340 | 285 | 334 | Repeat | Note=WD 1 |
| O14576 | 298 | 340 | 338 | 378 | Repeat | Note=WD 2 |
| 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 |
| O14576 | 122 | 141 | 123 | 142 | Alternative sequence | ID=VSP_001333;Note=In isoform 3%2C isoform 4 and isoform 5. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|Ref.2;Dbxref=PMID:14702039,PMID:15489334 |
| O14576 | 122 | 141 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 122 | 141 | 2 | 123 | Region | Note=Interaction with DCTN1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| O14576 | 298 | 340 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 298 | 340 | 285 | 334 | Repeat | Note=WD 1 |
| O14576 | 298 | 340 | 338 | 378 | Repeat | Note=WD 2 |
| O14576 | 340 | 389 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 340 | 389 | 373 | 373 | Natural variant | ID=VAR_064709;Note=Found in a renal cell carcinoma case%3B somatic mutation. H->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21248752;Dbxref=PMID:21248752 |
| O14576 | 340 | 389 | 338 | 378 | Repeat | Note=WD 2 |
| O14576 | 340 | 389 | 387 | 428 | Repeat | Note=WD 3 |
| O14576 | 520 | 567 | 2 | 645 | Chain | ID=PRO_0000114652;Note=Cytoplasmic dynein 1 intermediate chain 1 |
| O14576 | 520 | 567 | 482 | 527 | Repeat | Note=WD 5 |
| O14576 | 520 | 567 | 530 | 570 | Repeat | Note=WD 6 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DYNC1I1 |
| 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 DYNC1I1 |
| - 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 DYNC1I1 |
| 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 DYNC1I1 |
| 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 DYNC1I1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DYNC1I1 |
| 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 DYNC1I1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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