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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 DYSF |
 Gene summary |
| Gene information | Gene symbol | DYSF | Gene ID | 8291 |
| Gene name | dysferlin | |
| Synonyms | FER1L1|LGMD2B|LGMDR2|MMD1 | |
| Cytomap | 2p13.2 | |
| Type of gene | protein-coding | |
| Description | dysferlindystrophy-associated fer-1-like 1fer-1-like family member 1fer-1-like protein 1limb girdle muscular dystrophy 2B (autosomal recessive) | |
| Modification date | 20200328 | |
| UniProtAcc | ||
| Context | - 25706306(A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy) |
| 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 DYSF |
| 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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ENSG00000135636
| 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 |
| CB | UP | ENST00000410020.8 | DYSF-208:protein_coding:DYSF | 2.018317e+01 | 1.488394e+00 | 1.154164e-02 | 3.910326e-02 |
| TC | UP | ENST00000410020.8 | DYSF-208:protein_coding:DYSF | 5.616670e+01 | 1.260102e+00 | 3.730729e-03 | 2.685000e-02 |
| 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 DYSF |
| 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_149384 | chr2 | 71667376:71667515:71668754:71668842:71669112:71669207 | 71668754:71668842 |
| exon_skip_177051 | chr2 | 71679057:71679235:71681001:71681110:71682530:71682677 | 71681001:71681110 |
| exon_skip_183719 | chr2 | 71589593:71589686:71590211:71590288:71598564:71598745 | 71590211:71590288 |
| exon_skip_203438 | chr2 | 71613334:71613410:71620547:71620609:71643965:71644033 | 71620547:71620609 |
| exon_skip_232135 | chr2 | 71601499:71601528:71602776:71602805:71611245:71611346 | 71602776:71602805 |
| exon_skip_286766 | chr2 | 71511807:71511921:71513240:71513332:71513716:71513921 | 71513240:71513332 |
| exon_skip_30651 | chr2 | 71668754:71668842:71669112:71669207:71669605:71669746 | 71669112:71669207 |
| exon_skip_42958 | chr2 | 71658878:71659033:71660560:71660651:71664268:71664438 | 71660560:71660651 |
| exon_skip_56905 | chr2 | 71539157:71539239:71549350:71549391:71551041:71551156 | 71549350:71549391 |
| exon_skip_9475 | chr2 | 71669605:71669746:71674197:71674296:71679057:71679235 | 71674197:71674296 |
| 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 DYSF |
| 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 |
| ENST00000258104 | 71668754 | 71668842 | Frame-shift |
| ENST00000258104 | 71681001 | 71681110 | Frame-shift |
| ENST00000258104 | 71549350 | 71549391 | In-frame |
| ENST00000258104 | 71602776 | 71602805 | In-frame |
| ENST00000258104 | 71669112 | 71669207 | 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 |
| ENST00000258104 | 71668754 | 71668842 | Frame-shift |
| ENST00000258104 | 71549350 | 71549391 | 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 |
| ENST00000258104 | 71660560 | 71660651 | Frame-shift |
| ENST00000258104 | 71668754 | 71668842 | Frame-shift |
| ENST00000258104 | 71674197 | 71674296 | Frame-shift |
| ENST00000258104 | 71681001 | 71681110 | Frame-shift |
| ENST00000258104 | 71549350 | 71549391 | In-frame |
| ENST00000258104 | 71590211 | 71590288 | In-frame |
| ENST00000258104 | 71602776 | 71602805 | In-frame |
| ENST00000258104 | 71669112 | 71669207 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DYSF |
p-ENSG00000135636_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 |
| ENST00000258104 | 6813 | 2080 | 71549350 | 71549391 | 1759 | 1799 | 494 | 507 |
| ENST00000258104 | 6813 | 2080 | 71602776 | 71602805 | 4152 | 4180 | 1291 | 1301 |
| ENST00000258104 | 6813 | 2080 | 71669112 | 71669207 | 5708 | 5802 | 1810 | 1841 |
| 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 |
| ENST00000258104 | 6813 | 2080 | 71549350 | 71549391 | 1759 | 1799 | 494 | 507 |
| 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 |
| ENST00000258104 | 6813 | 2080 | 71549350 | 71549391 | 1759 | 1799 | 494 | 507 |
| ENST00000258104 | 6813 | 2080 | 71590211 | 71590288 | 3721 | 3797 | 1148 | 1173 |
| ENST00000258104 | 6813 | 2080 | 71602776 | 71602805 | 4152 | 4180 | 1291 | 1301 |
| ENST00000258104 | 6813 | 2080 | 71669112 | 71669207 | 5708 | 5802 | 1810 | 1841 |
| 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 |
| O75923 | 494 | 507 | 494 | 508 | Alternative sequence | ID=VSP_035926;Note=In isoform 3%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 9%2C isoform 11%2C isoform 12%2C isoform 13 and isoform 15. EEPAGAVKPSKASDL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:19221801,ECO:0000303|Ref.7;D |
| O75923 | 494 | 507 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 494 | 507 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75923 | 1291 | 1301 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 1291 | 1301 | 1298 | 1298 | Natural variant | ID=VAR_012309;Note=In MMD1 and LGMD2B. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9731526;Dbxref=dbSNP:rs121908954,PMID:9731526 |
| O75923 | 1291 | 1301 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75923 | 1810 | 1841 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 1810 | 1841 | 1813 | 1926 | Domain | Note=C2 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| O75923 | 1810 | 1841 | 1837 | 1837 | Natural variant | ID=VAR_057874;Note=In MMD1. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16100712,ECO:0000269|PubMed:18853459;Dbxref=dbSNP:rs398123794,PMID:16100712,PMID:18853459 |
| O75923 | 1810 | 1841 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O75923 | 494 | 507 | 494 | 508 | Alternative sequence | ID=VSP_035926;Note=In isoform 3%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 9%2C isoform 11%2C isoform 12%2C isoform 13 and isoform 15. EEPAGAVKPSKASDL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:19221801,ECO:0000303|Ref.7;D |
| O75923 | 494 | 507 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 494 | 507 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| O75923 | 494 | 507 | 494 | 508 | Alternative sequence | ID=VSP_035926;Note=In isoform 3%2C isoform 5%2C isoform 6%2C isoform 7%2C isoform 9%2C isoform 11%2C isoform 12%2C isoform 13 and isoform 15. EEPAGAVKPSKASDL->V;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:19221801,ECO:0000303|Ref.7;D |
| O75923 | 494 | 507 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 494 | 507 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75923 | 1148 | 1173 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 1148 | 1173 | 1139 | 1244 | Domain | Note=C2 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| O75923 | 1148 | 1173 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75923 | 1291 | 1301 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 1291 | 1301 | 1298 | 1298 | Natural variant | ID=VAR_012309;Note=In MMD1 and LGMD2B. I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:9731526;Dbxref=dbSNP:rs121908954,PMID:9731526 |
| O75923 | 1291 | 1301 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| O75923 | 1810 | 1841 | 1 | 2080 | Chain | ID=PRO_0000057879;Note=Dysferlin |
| O75923 | 1810 | 1841 | 1813 | 1926 | Domain | Note=C2 7;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| O75923 | 1810 | 1841 | 1837 | 1837 | Natural variant | ID=VAR_057874;Note=In MMD1. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16100712,ECO:0000269|PubMed:18853459;Dbxref=dbSNP:rs398123794,PMID:16100712,PMID:18853459 |
| O75923 | 1810 | 1841 | 1 | 2046 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DYSF |
| 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 DYSF |
| - 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 DYSF |
| 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 DYSF |
| 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 DYSF |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for DYSF |
| 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 DYSF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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