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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in RPSMAP, MSBB, and Mayo

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for DNM1L

check button Gene summary
Gene informationGene symbol

DNM1L

Gene ID

10059

Gene namedynamin 1 like
SynonymsDLP1|DRP1|DVLP|DYMPLE|EMPF|EMPF1|HDYNIV|OPA5
Cytomap

12p11.21

Type of geneprotein-coding
Descriptiondynamin-1-like proteinDnm1p/Vps1p-like proteindynamin family member proline-rich carboxyl-terminal domain lessdynamin-like protein 4dynamin-like protein IVdynamin-related protein 1
Modification date20200327
UniProtAcc

B4DDQ3,

B4DPZ9,

D3DUW5,

D3DUW6,

D3DUW7,

F8VR28,

F8VUJ9,

F8VYL3,

F8VZ52,

F8W1W3,

H0YHY4,

H0YI79,

O00429,

Q32Q67,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
DNM1L

GO:0000266

mitochondrial fission

23530241

DNM1L

GO:0003374

dynamin family protein polymerization involved in mitochondrial fission

11514614|23530241

DNM1L

GO:0016559

peroxisome fission

12618434

DNM1L

GO:0050714

positive regulation of protein secretion

9570752

DNM1L

GO:0061025

membrane fusion

20850011

DNM1L

GO:0065003

protein-containing complex assembly

20850011

DNM1L

GO:0090149

mitochondrial membrane fission

11514614


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Gene structures and expression levels for DNM1L

check buttonSkipped 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.
all structure

ENSG00000087470
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBUPENST00000434676.6DNM1L-206:nonsense_mediated_decay:DNM1L6.991280e+001.742261e+001.020696e-119.881576e-10
CBUPENST00000550154.5DNM1L-224:protein_coding:DNM1L1.561787e+002.114176e+001.813158e-062.488902e-05
CBDOWNENST00000414834.6DNM1L-205:protein_coding:DNM1L1.020872e+03-1.720145e+003.578861e-064.424665e-05
CBUPENST00000266481.10DNM1L-201:protein_coding:DNM1L1.380812e+021.685874e+003.672978e-042.221972e-03
TCDOWNENST00000414834.6DNM1L-205:protein_coding:DNM1L9.584020e+02-9.341197e-018.487969e-048.700232e-03
TCUPENST00000266481.10DNM1L-201:protein_coding:DNM1L4.324727e+018.936131e-012.922034e-032.234619e-02

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DNM1L

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_106244chr1232710929:32711015:32713209:32713371:32718643:3271871832713209:32713371
exon_skip_109971chr1232737867:32737942:32738264:32738296:32740064:3274024032738264:32738296
exon_skip_116747chr1232708153:32708224:32709544:32709607:32710929:3271100332709544:32709607
exon_skip_118142chr1232708153:32708224:32710929:32711015:32713209:3271331932710929:32711015
exon_skip_120122chr1232701415:32701562:32707367:32707413:32708153:3270820632707367:32707413
exon_skip_121639chr1232701415:32701562:32707367:32707413:32708153:3270822432707367:32707413
exon_skip_122447chr1232710929:32711015:32718643:32718763:32720664:3272079532718643:32718763
exon_skip_141804chr1232720664:32720795:32722427:32722633:32731014:3273106132722427:32722633
exon_skip_154648chr1232737105:32737161:32737865:32737942:32738264:3273829632737865:32737942
exon_skip_174491chr1232713247:32713371:32718643:32718763:32720664:3272079532718643:32718763
exon_skip_194736chr1232707367:32707413:32708153:32708224:32710929:3271101532708153:32708224
exon_skip_195060chr1232701415:32701562:32707367:32707413:32710929:3271100332707367:32707413
exon_skip_203406chr1232731854:32731943:32732538:32732610:32733715:3273372732732538:32732610
exon_skip_208375chr1232737865:32737942:32738264:32738296:32740064:3274024032738264:32738296
exon_skip_238008chr1232737105:32737161:32737865:32737942:32740064:3274024032737865:32737942
exon_skip_245679chr1232731854:32731943:32732538:32732610:32733715:3273380732732538:32732610
exon_skip_28200chr1232701415:32701562:32707367:32707413:32718643:3271871832707367:32707413
exon_skip_38812chr1232710929:32711015:32711180:32711272:32713209:3271331932711180:32711272
exon_skip_41217chr1232707367:32707413:32708153:32708224:32710929:3271100332708153:32708224
exon_skip_4415chr1232710929:32711015:32713209:32713371:32718643:3271876332713209:32713371
exon_skip_52890chr1232701415:32701562:32708153:32708224:32710929:3271100332708153:32708224
exon_skip_53341chr1232708153:32708224:32710929:32711015:32713209:3271337132710929:32711015
exon_skip_60612chr1232740064:32740240:32740409:32740518:32742589:3274268432740409:32740518
exon_skip_71804chr1232710929:32711015:32713209:32713371:32718643:3271866232713209:32713371
exon_skip_72795chr1232701415:32701562:32706690:32706814:32707367:3270741332706690:32706814
exon_skip_74111chr1232731486:32731511:32731854:32731943:32733715:3273380732731854:32731943
exon_skip_76122chr1232701415:32701562:32705825:32705863:32707367:3270741332705825:32705863
exon_skip_88554chr1232713209:32713371:32718643:32718763:32720664:3272079532718643:32718763
exon_skip_90996chr1232737105:32737161:32738264:32738296:32740064:3274024032738264:32738296

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
psi tcga
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value
exon_skip_76122MSBB_PG4.680986e-016.257143e-01-1.576157e-011.496503e-05
exon_skip_154648MSBB_PG7.431034e-018.594231e-01-1.163196e-012.757506e-02
exon_skip_238008MSBB_IFG7.252941e-018.381818e-01-1.128877e-013.527962e-02
exon_skip_238008Mayo_CB5.252439e-016.800000e-01-1.547561e-014.081146e-06
exon_skip_7276Mayo_CB5.739024e-017.288312e-01-1.549287e-011.445072e-06


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Open reading frame (ORF) annotation in the exon skipping event for DNM1L

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005497013270736732707413Frame-shift
ENST000005497013271320932713371Frame-shift
ENST000005497013271864332718763Frame-shift
ENST000005497013274040932740518Frame-shift
ENST000005497013270815332708224In-frame
ENST000005497013271092932711015In-frame
ENST000005497013273185432731943In-frame
ENST000005497013273786532737942In-frame
ENST000005497013273826432738296In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005497013270736732707413Frame-shift
ENST000005497013271320932713371Frame-shift
ENST000005497013271864332718763Frame-shift
ENST000005497013274040932740518Frame-shift
ENST000005497013270815332708224In-frame
ENST000005497013271092932711015In-frame
ENST000005497013273786532737942In-frame
ENST000005497013273826432738296In-frame

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000005497013270736732707413Frame-shift
ENST000005497013271320932713371Frame-shift
ENST000005497013271864332718763Frame-shift
ENST000005497013274040932740518Frame-shift
ENST000005497013270815332708224In-frame
ENST000005497013271092932711015In-frame
ENST000005497013272242732722633In-frame
ENST000005497013273185432731943In-frame
ENST000005497013273786532737942In-frame
ENST000005497013273826432738296In-frame

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Infer the effects of exon skipping event on protein functional features for DNM1L

p-ENSG00000087470_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005497012504736327081533270822437344399123
ENST0000054970125047363271092932711015445530123152
ENST000005497012504736327318543273194314321520452482
ENST000005497012504736327378653273794216721748532558
ENST000005497012504736327382643273829617501781558569

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005497012504736327081533270822437344399123
ENST0000054970125047363271092932711015445530123152
ENST000005497012504736327378653273794216721748532558
ENST000005497012504736327382643273829617501781558569

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000005497012504736327081533270822437344399123
ENST0000054970125047363271092932711015445530123152
ENST00000549701250473632722427327226339481153291359
ENST000005497012504736327318543273194314321520452482
ENST000005497012504736327378653273794216721748532558
ENST000005497012504736327382643273829617501781558569

check button 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 featureDescription of feature
O004299912344246Alternative sequenceID=VSP_054545;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O0042999123121123Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429991231736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O004299912322302DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O0042999123104119HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O0042912315244246Alternative sequenceID=VSP_054545;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O00429123152121123Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429123152130136Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429123152141146Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O004291231521736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O0042912315222302DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O00429123152146146MutagenesisNote=Abolishes GTP hydrolysis. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23977156;Dbxref=PMID:23977156
O00429123152149149MutagenesisNote=Abolishes GTP hydrolysis. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23977156;Dbxref=PMID:23977156
O00429123152146149RegionNote=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O004294524821736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429452482458493HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BEJ
O00429452482470470MutagenesisNote=No effect on S-nitrosylation. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19342591;Dbxref=PMID:19342591
O00429452482344489RegionNote=Middle domain
O00429452482448685RegionNote=Interaction with GSK3B
O00429532558533569Alternative sequenceID=VSP_013685;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9731200;Dbxref=PMID:10749171,PMID:14702039,PMID:9731200
O00429532558533558Alternative sequenceID=VSP_013686;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O00429532558544569Alternative sequenceID=VSP_013687;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10749171;Dbxref=PMID:10749171
O004295325581736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429532558532532Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558535535Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558558558Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558548548Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
O00429532558532532MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-535%3B R-558 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558535535MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-558 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558558558MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558448685RegionNote=Interaction with GSK3B
O00429532558502569RegionNote=B domain
O00429558569533569Alternative sequenceID=VSP_013685;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9731200;Dbxref=PMID:10749171,PMID:14702039,PMID:9731200
O00429558569533558Alternative sequenceID=VSP_013686;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O00429558569544569Alternative sequenceID=VSP_013687;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10749171;Dbxref=PMID:10749171
O00429558569559569Alternative sequenceID=VSP_013688;Note=In isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|Ref.6;Dbxref=PMID:10749171
O004295585691736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429558569558558Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569568568Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569558558MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569568568MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-558. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569448685RegionNote=Interaction with GSK3B
O00429558569502569RegionNote=B domain

check button 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 featureDescription of feature
O004299912344246Alternative sequenceID=VSP_054545;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O0042999123121123Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429991231736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O004299912322302DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O0042999123104119HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O0042912315244246Alternative sequenceID=VSP_054545;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O00429123152121123Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429123152130136Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429123152141146Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O004291231521736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O0042912315222302DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O00429123152146146MutagenesisNote=Abolishes GTP hydrolysis. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23977156;Dbxref=PMID:23977156
O00429123152149149MutagenesisNote=Abolishes GTP hydrolysis. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23977156;Dbxref=PMID:23977156
O00429123152146149RegionNote=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O00429532558533569Alternative sequenceID=VSP_013685;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9731200;Dbxref=PMID:10749171,PMID:14702039,PMID:9731200
O00429532558533558Alternative sequenceID=VSP_013686;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O00429532558544569Alternative sequenceID=VSP_013687;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10749171;Dbxref=PMID:10749171
O004295325581736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429532558532532Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558535535Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558558558Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558548548Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
O00429532558532532MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-535%3B R-558 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558535535MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-558 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558558558MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558448685RegionNote=Interaction with GSK3B
O00429532558502569RegionNote=B domain
O00429558569533569Alternative sequenceID=VSP_013685;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9731200;Dbxref=PMID:10749171,PMID:14702039,PMID:9731200
O00429558569533558Alternative sequenceID=VSP_013686;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O00429558569544569Alternative sequenceID=VSP_013687;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10749171;Dbxref=PMID:10749171
O00429558569559569Alternative sequenceID=VSP_013688;Note=In isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|Ref.6;Dbxref=PMID:10749171
O004295585691736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429558569558558Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569568568Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569558558MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569568568MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-558. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569448685RegionNote=Interaction with GSK3B
O00429558569502569RegionNote=B domain

check button 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 featureDescription of feature
O004299912344246Alternative sequenceID=VSP_054545;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O0042999123121123Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429991231736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O004299912322302DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O0042999123104119HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O0042912315244246Alternative sequenceID=VSP_054545;Note=In isoform 7. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O00429123152121123Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429123152130136Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429123152141146Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O004291231521736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O0042912315222302DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O00429123152146146MutagenesisNote=Abolishes GTP hydrolysis. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23977156;Dbxref=PMID:23977156
O00429123152149149MutagenesisNote=Abolishes GTP hydrolysis. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23977156;Dbxref=PMID:23977156
O00429123152146149RegionNote=G3 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O004292913591736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O0042929135922302DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
O00429291359282317HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429291359338355HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3W6P
O00429291359300300MutagenesisNote=No effect on S-nitrosylation. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19342591;Dbxref=PMID:19342591
O00429291359345345MutagenesisNote=No effect on S-nitrosylation. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19342591;Dbxref=PMID:19342591
O00429291359344489RegionNote=Middle domain
O004294524821736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429452482458493HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BEJ
O00429452482470470MutagenesisNote=No effect on S-nitrosylation. C->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19342591;Dbxref=PMID:19342591
O00429452482344489RegionNote=Middle domain
O00429452482448685RegionNote=Interaction with GSK3B
O00429532558533569Alternative sequenceID=VSP_013685;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9731200;Dbxref=PMID:10749171,PMID:14702039,PMID:9731200
O00429532558533558Alternative sequenceID=VSP_013686;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O00429532558544569Alternative sequenceID=VSP_013687;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10749171;Dbxref=PMID:10749171
O004295325581736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429532558532532Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558535535Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558558558Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558548548Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
O00429532558532532MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-535%3B R-558 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558535535MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-558 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558558558MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429532558448685RegionNote=Interaction with GSK3B
O00429532558502569RegionNote=B domain
O00429558569533569Alternative sequenceID=VSP_013685;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:9731200;Dbxref=PMID:10749171,PMID:14702039,PMID:9731200
O00429558569533558Alternative sequenceID=VSP_013686;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
O00429558569544569Alternative sequenceID=VSP_013687;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:10749171;Dbxref=PMID:10749171
O00429558569559569Alternative sequenceID=VSP_013688;Note=In isoform 4 and isoform 8. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:10749171,ECO:0000303|Ref.6;Dbxref=PMID:10749171
O004295585691736ChainID=PRO_0000206566;Note=Dynamin-1-like protein
O00429558569558558Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569568568Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO);Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569558558MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-568. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569568568MutagenesisNote=Some loss of sumoylation in B domain. Complete loss of sumoylation in B domain%3B when associated with R-532%3B R-535 and R-558. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19638400;Dbxref=PMID:19638400
O00429558569448685RegionNote=Interaction with GSK3B
O00429558569502569RegionNote=B domain


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3'-UTR located exon skipping events that lost miRNA binding sites in DNM1L

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for DNM1L

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for DNM1L

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end
ADstageMSBBIFGexon_skip_238008-4.405748e-011.895159e-02chr12+327371053273716132737865327379423274006432740240

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNM1L

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for DNM1L

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBPTBP1exon_skip_76122-4.052161e-012.955438e-07
CBRBM6exon_skip_154648-4.148907e-015.406778e-08
CBPCBP4exon_skip_1546485.313521e-015.768748e-13
CBRBM6exon_skip_238008-5.062199e-011.346614e-11
CBPCBP4exon_skip_2380085.715216e-015.405429e-15
CBDAZAP1exon_skip_7276-4.058676e-011.110416e-07
CBRBM6exon_skip_7276-4.807525e-011.420631e-10
CBCNOT4exon_skip_7276-4.866159e-017.853168e-11
CBRBM3exon_skip_72764.933829e-013.906673e-11
CBPCBP4exon_skip_72765.605288e-011.551676e-14
CBTRA2Aexon_skip_7276-5.848396e-015.753788e-16
CBFUBP1exon_skip_7276-4.546139e-011.748633e-09
CBRBM45exon_skip_72767.340757e-013.512346e-28
CBNUP42exon_skip_72765.589808e-011.896704e-14
CBPTBP1exon_skip_7276-4.687523e-014.617644e-10
CBRBM4exon_skip_7276-7.392905e-019.327523e-29
CBTRA2Aexon_skip_90996-4.075423e-011.416481e-07
DLPFCRBFOX2exon_skip_72765.590025e-012.843484e-28
DLPFCELAVL4exon_skip_72764.667491e-014.277040e-19
DLPFCRBM3exon_skip_72764.657934e-015.156740e-19
DLPFCKHDRBS2exon_skip_72764.874014e-016.486719e-21
DLPFCKHSRPexon_skip_72764.097657e-011.134038e-14
DLPFCSART3exon_skip_72764.004255e-015.049033e-14
DLPFCNOVA1exon_skip_72764.243740e-019.972019e-16
FLILF2exon_skip_761225.333573e-019.947994e-16
FLPTBP1exon_skip_76122-4.237130e-016.742049e-10
FLHNRNPH2exon_skip_761225.030623e-016.638221e-14
FLESRP1exon_skip_761225.294775e-011.744308e-15
FLSRSF2exon_skip_72764.626810e-011.412664e-11
FLRBFOX2exon_skip_72764.930862e-013.707610e-13
FLMSI1exon_skip_7276-4.076060e-014.413377e-09
FLELAVL4exon_skip_72764.548789e-013.397825e-11
FLRBM3exon_skip_72764.575445e-012.523841e-11
FLKHDRBS3exon_skip_72764.055959e-015.340676e-09
FLHNRNPA0exon_skip_72765.020542e-011.180859e-13
FLRALYLexon_skip_72764.223879e-011.043715e-09
FLHNRNPLexon_skip_72764.357002e-012.679974e-10
HCCHNRNPA2B1exon_skip_76122-4.851584e-011.820536e-17
HCCPTBP1exon_skip_76122-5.854367e-012.042814e-26
HCCHNRNPFexon_skip_76122-4.672207e-013.728797e-16
HCCRBM6exon_skip_154648-5.949785e-012.430019e-27
HCCPCBP1exon_skip_154648-4.587171e-011.655672e-15
HCCEIF4G2exon_skip_154648-5.786133e-011.284694e-25
HCCRBM6exon_skip_238008-5.516490e-018.034379e-23
HCCEIF4G2exon_skip_238008-4.800389e-016.536443e-17
HCCDAZAP1exon_skip_7276-5.451122e-012.237248e-22
HCCRBMS2exon_skip_7276-6.194623e-014.130226e-30
HCCRBFOX2exon_skip_72764.692214e-013.046957e-16
HCCMSI1exon_skip_7276-6.222104e-011.948797e-30
HCCPABPN1exon_skip_7276-5.332169e-012.603026e-21
HCCSFPQexon_skip_7276-5.842177e-013.385511e-26
HCCRBM6exon_skip_7276-6.259069e-017.011799e-31
HCCTIA1exon_skip_7276-4.743187e-011.312062e-16
HCCTRNAU1APexon_skip_7276-4.276525e-011.780941e-13
HCCRBM47exon_skip_7276-4.491451e-017.365480e-15
HCCUNKexon_skip_7276-4.516937e-014.972578e-15
HCCKHDRBS2exon_skip_72764.242279e-012.898625e-13
HCCSF1exon_skip_7276-4.503171e-016.150598e-15
HCCKHDRBS3exon_skip_7276-5.166389e-016.797914e-20
HCCFUBP1exon_skip_7276-4.727829e-011.693738e-16
HCCRBM45exon_skip_7276-4.472546e-019.836498e-15
HCCEIF4G2exon_skip_7276-5.606120e-017.867140e-24
HCCPTBP1exon_skip_7276-6.558963e-011.028952e-34
HCCRBM4exon_skip_7276-5.005500e-011.365865e-18
IFGPABPN1Lexon_skip_76122-5.088438e-015.689009e-03
IFGPTBP1exon_skip_76122-4.557885e-011.478781e-02
IFGHNRNPFexon_skip_76122-4.119962e-012.936996e-02
IFGIGF2BP2exon_skip_154648-5.136289e-015.180375e-03
PCCIGF2BP2exon_skip_76122-4.073106e-018.495659e-10
PCCPTBP1exon_skip_76122-7.287653e-014.682141e-36
PCCHNRNPFexon_skip_76122-6.058700e-011.981073e-22
PCCRBM6exon_skip_154648-4.758070e-014.913083e-13
PCCIGF2BP2exon_skip_154648-4.097462e-019.605528e-10
PCCPCBP4exon_skip_154648-4.185523e-013.834739e-10
PCCRBM6exon_skip_238008-5.013644e-011.057247e-14
PCCRBMS2exon_skip_7276-5.734827e-016.188211e-20
PCCRBFOX2exon_skip_72764.493242e-016.258375e-12
PCCRBM6exon_skip_7276-4.022360e-011.195736e-09
PCCZFP36exon_skip_7276-4.379024e-012.412731e-11
PCCPTBP1exon_skip_7276-5.707159e-011.019079e-19
PGRBM25exon_skip_761224.058489e-012.994210e-09
PGILF2exon_skip_761225.226547e-012.830919e-15
PGPTBP1exon_skip_76122-4.289426e-012.881945e-10
PGHNRNPH2exon_skip_761225.895630e-016.369177e-20
PGPCBP1exon_skip_1546484.339595e-014.189619e-09
PGRALYLexon_skip_1546485.342446e-018.782119e-14
PGRBFOX2exon_skip_72765.423571e-011.536099e-14
PGELAVL4exon_skip_72764.956620e-014.738517e-12
PGRBM3exon_skip_72764.235285e-017.088546e-09
PGPCBP1exon_skip_72764.047276e-013.656139e-08
PGKHDRBS2exon_skip_72764.851619e-011.531514e-11
PGZFP36exon_skip_7276-4.098753e-012.356612e-08
PGKHDRBS3exon_skip_72764.474371e-017.571828e-10
PGRBM24exon_skip_72764.852248e-011.520971e-11
PGHNRNPA0exon_skip_72764.241143e-016.724347e-09
PGRALYLexon_skip_72764.864812e-011.324508e-11
PGSART3exon_skip_72764.054978e-013.425224e-08
STGILF2exon_skip_761224.238046e-013.150483e-05
STGPTBP1exon_skip_76122-4.602726e-015.009519e-06
STGHNRNPH2exon_skip_761224.991641e-015.503979e-07
STGRALYLexon_skip_1546485.259888e-013.879292e-07
STGSRSF2exon_skip_72764.383743e-012.426093e-05
STGRBFOX2exon_skip_72765.053820e-016.945745e-07
STGELAVL4exon_skip_72764.367801e-012.617029e-05
STGRBM3exon_skip_72765.079867e-015.955059e-07
STGKHDRBS3exon_skip_72764.311389e-013.411237e-05
STGRBM24exon_skip_72764.581113e-019.197201e-06
STGHNRNPA0exon_skip_72764.775848e-013.323737e-06
STGHNRNPDLexon_skip_72764.283997e-013.873226e-05
STGRALYLexon_skip_72765.417479e-017.181868e-08
STGHNRNPLexon_skip_72764.665319e-015.968035e-06
STGSRSF9exon_skip_72764.171188e-016.460956e-05
TCRBM25exon_skip_761224.036318e-011.206703e-07
TCILF2exon_skip_761225.673501e-015.193253e-15
TCPTBP1exon_skip_76122-4.299129e-011.399927e-08
TCPTBP3exon_skip_761225.318679e-014.582248e-13
TCEWSR1exon_skip_761224.175005e-013.962040e-08
TCHNRNPH2exon_skip_761227.633997e-018.436497e-32
TCESRP1exon_skip_761226.495995e-011.510617e-20
TCRBM6exon_skip_154648-4.155039e-015.673213e-08
TCRALYLexon_skip_1546488.060027e-012.338735e-37
TCRBM6exon_skip_238008-5.115971e-018.780407e-12
TCRALYLexon_skip_2380088.045484e-011.124116e-36
TCRBMS2exon_skip_7276-4.934288e-013.371421e-11
TCSRSF2exon_skip_72764.063459e-019.742327e-08
TCRBFOX2exon_skip_72765.949620e-011.076612e-16
TCMSI1exon_skip_7276-4.283024e-011.606058e-08
TCELAVL4exon_skip_72766.684996e-014.524101e-22
TCRBM6exon_skip_7276-4.470595e-013.099649e-09
TCRBM3exon_skip_72764.745030e-012.316606e-10
TCKHDRBS2exon_skip_72766.989655e-018.911275e-25
TCKHDRBS3exon_skip_72765.580570e-011.767889e-14
TCRBM24exon_skip_72766.092260e-011.251797e-17
TCHNRNPA0exon_skip_72765.176603e-012.390177e-12
TCHNRNPDexon_skip_72764.774038e-011.737199e-10
TCNUP42exon_skip_72765.389142e-011.962004e-13
TCRALYLexon_skip_72766.880762e-019.018188e-24
TCPTBP1exon_skip_7276-5.813496e-017.617135e-16
TCNOVA1exon_skip_72765.478550e-016.497934e-14

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RelatedDrugs for DNM1L

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DNM1L

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource