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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 DNM2 |
Gene summary |
Gene information | Gene symbol | DNM2 | Gene ID | 1785 |
Gene name | dynamin 2 | |
Synonyms | CMT2M|CMTDI1|CMTDIB|DI-CMTB|DYN2|DYNII|LCCS5 | |
Cytomap | 19p13.2 | |
Type of gene | protein-coding | |
Description | dynamin-2dynamin II | |
Modification date | 20200329 | |
UniProtAcc | ||
Context | - 19126407(Decrease of dynamin 2 levels in late-onset Alzheimer's disease alters Abeta metabolism) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
DNM2 | GO:1903526 | negative regulation of membrane tubulation | 18388313 |
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Gene structures and expression levels for DNM2 |
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 |
STG | UP | ENST00000590806.5 | DNM2-215:retained_intron:DNM2 | 4.702232e+01 | 1.212430e+00 | 5.339703e-07 | 3.393609e-04 |
PG | UP | ENST00000591818.1 | DNM2-219:protein_coding:DNM2 | 2.936909e+00 | 1.307931e+00 | 2.521811e-06 | 1.801914e-04 |
PG | UP | ENST00000591266.1 | DNM2-217:lncRNA:DNM2 | 2.384588e+00 | 8.454799e-01 | 1.737933e-04 | 4.111581e-03 |
TC | DOWN | ENST00000588976.1 | DNM2-212:lncRNA:DNM2 | 8.312114e-01 | -1.000618e+00 | 1.243262e-03 | 1.167838e-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 DNM2 |
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_120269 | chr19 | 10819980:10820089:10823788:10823899:10825057:10825221 | 10823788:10823899 |
exon_skip_124855 | chr19 | 10795372:10795439:10797380:10797518:10798486:10798562 | 10797380:10797518 |
exon_skip_180590 | chr19 | 10829112:10829268:10830127:10830378:10832304:10833484 | 10830127:10830378 |
exon_skip_206748 | chr19 | 10786564:10786706:10793720:10793855:10795372:10795439 | 10793720:10793855 |
exon_skip_217346 | chr19 | 10802288:10802358:10805916:10805967:10812264:10812300 | 10805916:10805967 |
exon_skip_244387 | chr19 | 10802288:10802358:10803639:10803668:10805916:10805967 | 10803639:10803668 |
exon_skip_274946 | chr19 | 10812275:10812377:10819980:10820089:10823788:10823899 | 10819980:10820089 |
exon_skip_280980 | chr19 | 10783016:10783120:10786564:10786706:10793720:10793751 | 10786564:10786706 |
exon_skip_283953 | chr19 | 10759738:10759811:10772479:10772628:10775703:10775815 | 10772479:10772628 |
exon_skip_49994 | chr19 | 10805916:10805967:10808569:10808580:10812264:10812300 | 10808569:10808580 |
exon_skip_83323 | chr19 | 10798486:10798572:10802288:10802358:10805916:10805967 | 10802288:10802358 |
exon_skip_88496 | chr19 | 10795372:10795439:10796061:10796199:10798486:10798562 | 10796061:10796199 |
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 DNM2 |
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 |
ENST00000355667 | 10786564 | 10786706 | Frame-shift |
ENST00000355667 | 10793720 | 10793855 | Frame-shift |
ENST00000355667 | 10802288 | 10802358 | Frame-shift |
ENST00000355667 | 10772479 | 10772628 | In-frame |
ENST00000355667 | 10808569 | 10808580 | 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 |
ENST00000355667 | 10808569 | 10808580 | 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 |
ENST00000355667 | 10786564 | 10786706 | Frame-shift |
ENST00000355667 | 10793720 | 10793855 | Frame-shift |
ENST00000355667 | 10796061 | 10796199 | Frame-shift |
ENST00000355667 | 10802288 | 10802358 | Frame-shift |
ENST00000355667 | 10819980 | 10820089 | Frame-shift |
ENST00000355667 | 10823788 | 10823899 | Frame-shift |
ENST00000355667 | 10772479 | 10772628 | In-frame |
ENST00000355667 | 10808569 | 10808580 | In-frame |
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Infer the effects of exon skipping event on protein functional features for DNM2 |
p-ENSG00000079805_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 |
ENST00000355667 | 3558 | 870 | 10772479 | 10772628 | 317 | 465 | 79 | 128 |
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 |
ENST00000355667 | 3558 | 870 | 10772479 | 10772628 | 317 | 465 | 79 | 128 |
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 |
P50570 | 79 | 128 | 1 | 870 | Chain | ID=PRO_0000206570;Note=Dynamin-2 |
P50570 | 79 | 128 | 28 | 294 | Domain | Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
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 |
P50570 | 79 | 128 | 1 | 870 | Chain | ID=PRO_0000206570;Note=Dynamin-2 |
P50570 | 79 | 128 | 28 | 294 | Domain | Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
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3'-UTR located exon skipping events that lost miRNA binding sites in DNM2 |
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 DNM2 |
- 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 DNM2 |
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 DNM2 |
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 DNM2 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
DLPFC | KHDRBS2 | exon_skip_98202 | 5.515855e-01 | 6.267907e-24 |
DLPFC | SF1 | exon_skip_205933 | 4.287484e-01 | 1.514585e-16 |
DLPFC | EIF4B | exon_skip_205933 | 4.460126e-01 | 6.323557e-18 |
TC | RBM24 | exon_skip_205933 | 4.811505e-01 | 1.193058e-10 |
TC | NUP42 | exon_skip_205933 | 4.317575e-01 | 1.195076e-08 |
TC | SRSF5 | exon_skip_98202 | 4.248257e-01 | 3.248139e-08 |
TC | NOVA1 | exon_skip_98202 | 4.224242e-01 | 3.952443e-08 |
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RelatedDrugs for DNM2 |
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 DNM2 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |