|
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 DYNC2LI1 |
Gene summary |
Gene information | Gene symbol | DYNC2LI1 | Gene ID | 51626 |
Gene name | dynein cytoplasmic 2 light intermediate chain 1 | |
Synonyms | CGI-60|D2LIC|LIC3 | |
Cytomap | 2p21 | |
Type of gene | protein-coding | |
Description | cytoplasmic dynein 2 light intermediate chain 1 | |
Modification date | 20200313 | |
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 |
Top |
Gene structures and expression levels for DYNC2LI1 |
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. |
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. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DYNC2LI1 |
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_11119 | chr2 | 43774086:43774146:43776782:43776899:43783520:43783554 | 43776782:43776899 |
exon_skip_141140 | chr2 | 43794457:43794643:43795887:43795958:43796718:43796741 | 43795887:43795958 |
exon_skip_16906 | chr2 | 43794457:43794643:43795887:43795958:43796718:43796795 | 43795887:43795958 |
exon_skip_201520 | chr2 | 43794457:43794643:43795890:43795958:43796718:43796795 | 43795890:43795958 |
exon_skip_207809 | chr2 | 43794457:43794643:43795890:43795958:43796718:43796741 | 43795890:43795958 |
exon_skip_236778 | chr2 | 43796718:43796795:43800841:43800917:43801639:43801709 | 43800841:43800917 |
exon_skip_243654 | chr2 | 43783520:43783554:43787181:43787250:43789633:43789721 | 43787181:43787250 |
exon_skip_255720 | chr2 | 43776823:43776899:43783520:43783554:43789633:43789721 | 43783520:43783554 |
exon_skip_257808 | chr2 | 43776823:43776899:43781628:43781764:43783520:43783554 | 43781628:43781764 |
exon_skip_280816 | chr2 | 43795890:43795958:43796718:43796795:43800841:43800917 | 43796718:43796795 |
exon_skip_87296 | chr2 | 43776782:43776899:43781628:43781764:43783520:43783554 | 43781628:43781764 |
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 DYNC2LI1 |
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 |
ENST00000260605 | 43787181 | 43787250 | Frame-shift |
ENST00000260605 | 43800841 | 43800917 | Frame-shift |
ENST00000260605 | 43795890 | 43795958 | In-frame |
ENST00000260605 | 43796718 | 43796795 | 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 |
ENST00000260605 | 43787181 | 43787250 | Frame-shift |
ENST00000260605 | 43800841 | 43800917 | Frame-shift |
ENST00000260605 | 43795890 | 43795958 | 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 |
ENST00000260605 | 43787181 | 43787250 | Frame-shift |
ENST00000260605 | 43800841 | 43800917 | Frame-shift |
ENST00000260605 | 43795890 | 43795958 | In-frame |
ENST00000260605 | 43796718 | 43796795 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for DYNC2LI1 |
p-ENSG00000138036_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 |
ENST00000260605 | 1416 | 351 | 43795890 | 43795958 | 609 | 676 | 169 | 192 |
ENST00000260605 | 1416 | 351 | 43796718 | 43796795 | 678 | 754 | 192 | 218 |
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 |
ENST00000260605 | 1416 | 351 | 43795890 | 43795958 | 609 | 676 | 169 | 192 |
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 |
ENST00000260605 | 1416 | 351 | 43795890 | 43795958 | 609 | 676 | 169 | 192 |
ENST00000260605 | 1416 | 351 | 43796718 | 43796795 | 678 | 754 | 192 | 218 |
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 |
Q8TCX1 | 169 | 192 | 145 | 351 | Alternative sequence | ID=VSP_031288;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 169 | 169 | Alternative sequence | ID=VSP_031289;Note=In isoform 2. P->PQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 170 | 201 | Alternative sequence | ID=VSP_031290;Note=In isoform 4. DHELIDPFPVPLVIIGSKYDVFQDFESEKRKV->VSCCLGLLLESLVPFIVNDNITNNFFRFLCMT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 1 | 351 | Chain | ID=PRO_0000318750;Note=Cytoplasmic dynein 2 light intermediate chain 1 |
Q8TCX1 | 192 | 218 | 145 | 351 | Alternative sequence | ID=VSP_031288;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 192 | 218 | 170 | 201 | Alternative sequence | ID=VSP_031290;Note=In isoform 4. DHELIDPFPVPLVIIGSKYDVFQDFESEKRKV->VSCCLGLLLESLVPFIVNDNITNNFFRFLCMT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 192 | 218 | 202 | 351 | Alternative sequence | ID=VSP_031291;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 192 | 218 | 1 | 351 | Chain | ID=PRO_0000318750;Note=Cytoplasmic dynein 2 light intermediate chain 1 |
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 |
Q8TCX1 | 169 | 192 | 145 | 351 | Alternative sequence | ID=VSP_031288;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 169 | 169 | Alternative sequence | ID=VSP_031289;Note=In isoform 2. P->PQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 170 | 201 | Alternative sequence | ID=VSP_031290;Note=In isoform 4. DHELIDPFPVPLVIIGSKYDVFQDFESEKRKV->VSCCLGLLLESLVPFIVNDNITNNFFRFLCMT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 1 | 351 | Chain | ID=PRO_0000318750;Note=Cytoplasmic dynein 2 light intermediate chain 1 |
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 |
Q8TCX1 | 169 | 192 | 145 | 351 | Alternative sequence | ID=VSP_031288;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 169 | 169 | Alternative sequence | ID=VSP_031289;Note=In isoform 2. P->PQ;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 170 | 201 | Alternative sequence | ID=VSP_031290;Note=In isoform 4. DHELIDPFPVPLVIIGSKYDVFQDFESEKRKV->VSCCLGLLLESLVPFIVNDNITNNFFRFLCMT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 169 | 192 | 1 | 351 | Chain | ID=PRO_0000318750;Note=Cytoplasmic dynein 2 light intermediate chain 1 |
Q8TCX1 | 192 | 218 | 145 | 351 | Alternative sequence | ID=VSP_031288;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 192 | 218 | 170 | 201 | Alternative sequence | ID=VSP_031290;Note=In isoform 4. DHELIDPFPVPLVIIGSKYDVFQDFESEKRKV->VSCCLGLLLESLVPFIVNDNITNNFFRFLCMT;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 192 | 218 | 202 | 351 | Alternative sequence | ID=VSP_031291;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8TCX1 | 192 | 218 | 1 | 351 | Chain | ID=PRO_0000318750;Note=Cytoplasmic dynein 2 light intermediate chain 1 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in DYNC2LI1 |
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 |
Top |
SNVs in the skipped exons for DYNC2LI1 |
- 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 DYNC2LI1 |
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 DYNC2LI1 |
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 DYNC2LI1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Top |
RelatedDrugs for DYNC2LI1 |
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 DYNC2LI1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |