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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 DNM1

check button Gene summary
Gene informationGene symbol

DNM1

Gene ID

1759

Gene namedynamin 1
SynonymsDNM|EIEE31
Cytomap

9q34.11

Type of geneprotein-coding
Descriptiondynamin-1
Modification date20200327
UniProtAcc

A0A0D9SFB1,

A0A0D9SFE4,

A0A0D9SFP1,

A0A0U1RQP1,

A0A1B0GU67,

A0A1B0GUX5,

A0A1B0GVK6,

H7C5U0,

Q05193,

Context- 26373435(Radiation-Induced Alteration of the Brain Proteome: Understanding the Role of the Sirtuin 2 Deacetylase in a Murine Model)

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

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Gene structures and expression levels for DNM1

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

ENSG00000106976
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
STGUPENST00000628346.2DNM1-213:protein_coding:DNM14.004685e+012.769677e+006.130075e-043.005826e-02
STGUPENST00000486160.3DNM1-208:protein_coding:DNM13.772250e+024.568947e+001.437856e-034.646536e-02
PGDOWNENST00000637999.1DNM1-227:nonsense_mediated_decay:DNM13.397313e+01-9.670771e-018.238886e-064.354785e-04
PGDOWNENST00000475805.5DNM1-206:protein_coding:DNM11.493257e+03-9.844299e-015.926056e-051.866887e-03
CBDOWNENST00000341179.11DNM1-201:protein_coding:DNM11.960384e+03-1.256139e+001.291869e-024.279538e-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 DNM1

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_107211chr9128250929:128250940:128253101:128253137:128254006:128254162128253101:128253137
exon_skip_108518chr9128250802:128250940:128253101:128253137:128254654:128254671128253101:128253137
exon_skip_109612chr9128222793:128222860:128226035:128226086:128234021:128234107128226035:128226086
exon_skip_110768chr9128222793:128222860:128224251:128224389:128234021:128234107128224251:128224389
exon_skip_113249chr9128250802:128250940:128253101:128253137:128254006:128254028128253101:128253137
exon_skip_118459chr9128226035:128226173:128231986:128232124:128234021:128234024128231986:128232124
exon_skip_124441chr9128247375:128247486:128247924:128247935:128248583:128248753128247924:128247935
exon_skip_128894chr9128246476:128246503:128246937:128247123:128247375:128247391128246937:128247123
exon_skip_146425chr9128226035:128226173:128231986:128232124:128234021:128234107128231986:128232124
exon_skip_150945chr9128246394:128246503:128246937:128247123:128247375:128247391128246937:128247123
exon_skip_160015chr9128250929:128250940:128253101:128253137:128254009:128254055128253101:128253137
exon_skip_176015chr9128219193:128219252:128219988:128220086:128220181:128220341128219988:128220086
exon_skip_177937chr9128250802:128250940:128253101:128253137:128254006:128254162128253101:128253137
exon_skip_178430chr9128222197:128222339:128222461:128222596:128222793:128222860128222461:128222596
exon_skip_183066chr9128239985:128239996:128242232:128242345:128246394:128246471128242232:128242345
exon_skip_190540chr9128250802:128250940:128253101:128253137:128254009:128254055128253101:128253137
exon_skip_210451chr9128239728:128239779:128239985:128239996:128242232:128242242128239985:128239996
exon_skip_210918chr9128246478:128246503:128246937:128247123:128247375:128247391128246937:128247123
exon_skip_212130chr9128242306:128242345:128246394:128246503:128247375:128247391128246394:128246503
exon_skip_213486chr9128226146:128226173:128231986:128232124:128234021:128234024128231986:128232124
exon_skip_223151chr9128222793:128222860:128226035:128226173:128234021:128234107128226035:128226173
exon_skip_226615chr9128222793:128222860:128226035:128226173:128231986:128232124128226035:128226173
exon_skip_236110chr9128234021:128234107:128234816:128234935:128239445:128239515128234816:128234935
exon_skip_239027chr9128239728:128239779:128239985:128239996:128242232:128242345128239985:128239996
exon_skip_241304chr9128250929:128250940:128253101:128253137:128254654:128254876128253101:128253137
exon_skip_244435chr9128250802:128250940:128253101:128253137:128254654:128254876128253101:128253137
exon_skip_245129chr9128220181:128220341:128221110:128221216:128222197:128222339128221110:128221216
exon_skip_250115chr9128250115:128250356:128250725:128250940:128253101:128253136128250725:128250940
exon_skip_253155chr9128250900:128250940:128253101:128253137:128254006:128254162128253101:128253137
exon_skip_261610chr9128222793:128222860:128226035:128226086:128234021:128234024128226035:128226086
exon_skip_261922chr9128220181:128220341:128221110:128221216:128222197:128222260128221110:128221216
exon_skip_262518chr9128226138:128226173:128234021:128234107:128239445:128239515128234021:128234107
exon_skip_264395chr9128234051:128234107:128234816:128234935:128239445:128239515128234816:128234935
exon_skip_266515chr9128239728:128239779:128239985:128239996:128242232:128242253128239985:128239996
exon_skip_272249chr9128234027:128234107:128234816:128234935:128239445:128239515128234816:128234935
exon_skip_275810chr9128219129:128219252:128219988:128220086:128220181:128220341128219988:128220086
exon_skip_279049chr9128250115:128250356:128250725:128250940:128253101:128253137128250725:128250940
exon_skip_280989chr9128246479:128246503:128246937:128247123:128247375:128247391128246937:128247123
exon_skip_2971chr9128219049:128219252:128219988:128220086:128220181:128220341128219988:128220086
exon_skip_36856chr9128239728:128239779:128239985:128239996:128242232:128242267128239985:128239996
exon_skip_39632chr9128250926:128250940:128253101:128253137:128254006:128254162128253101:128253137
exon_skip_43062chr9128250926:128250940:128253101:128253137:128254654:128254876128253101:128253137
exon_skip_59694chr9128219222:128219252:128219988:128220086:128220181:128220341128219988:128220086
exon_skip_61443chr9128222793:128222860:128226035:128226173:128234021:128234024128226035:128226173
exon_skip_66470chr9128250900:128250940:128253101:128253137:128254654:128254876128253101:128253137
exon_skip_83893chr9128250926:128250940:128253101:128253137:128254009:128254055128253101:128253137
exon_skip_87718chr9128222793:128222860:128224251:128224389:128234021:128234024128224251:128224389
exon_skip_94597chr9128219211:128219252:128219988:128220086:128220181:128220341128219988:128220086
exon_skip_95198chr9128226138:128226173:128231986:128232124:128234021:128234024128231986:128232124

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for DNM1

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
ENST00000372923128224251128224389Frame-shift
ENST00000372923128246394128246503Frame-shift
ENST00000372923128219988128220086In-frame
ENST00000372923128239985128239996In-frame
ENST00000372923128247924128247935In-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
ENST00000372923128224251128224389Frame-shift
ENST00000372923128246394128246503Frame-shift
ENST00000372923128219988128220086In-frame
ENST00000372923128239985128239996In-frame
ENST00000372923128247924128247935In-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
ENST00000372923128222461128222596Frame-shift
ENST00000372923128224251128224389Frame-shift
ENST00000372923128246394128246503Frame-shift
ENST00000372923128219988128220086In-frame
ENST00000372923128239985128239996In-frame
ENST00000372923128242232128242345In-frame
ENST00000372923128247924128247935In-frame

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Infer the effects of exon skipping event on protein functional features for DNM1

p-ENSG00000106976_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
ENST000003729233261864128219988128220086710807197229

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
ENST000003729233261864128219988128220086710807197229

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
ENST000003729233261864128219988128220086710807197229
ENST00000372923326186412824223212824234516781790519557

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
Q05193197229198205Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q051931972291864ChainID=PRO_0000206563;Note=Dynamin-1
Q0519319722928294DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
Q05193197229207209HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q05193197229217220HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q05193197229206206Natural variantID=VAR_073711;Note=In EIEE31. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25262651;Dbxref=dbSNP:rs587777861,PMID:25262651
Q05193197229205208Nucleotide bindingNote=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q05193197229205208RegionNote=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055

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
Q05193197229198205Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q051931972291864ChainID=PRO_0000206563;Note=Dynamin-1
Q0519319722928294DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
Q05193197229207209HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q05193197229217220HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q05193197229206206Natural variantID=VAR_073711;Note=In EIEE31. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25262651;Dbxref=dbSNP:rs587777861,PMID:25262651
Q05193197229205208Nucleotide bindingNote=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q05193197229205208RegionNote=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055

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
Q05193197229198205Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q051931972291864ChainID=PRO_0000206563;Note=Dynamin-1
Q0519319722928294DomainNote=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
Q05193197229207209HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q05193197229217220HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q
Q05193197229206206Natural variantID=VAR_073711;Note=In EIEE31. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25262651;Dbxref=dbSNP:rs587777861,PMID:25262651
Q05193197229205208Nucleotide bindingNote=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q05193197229205208RegionNote=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055
Q05193519557520529Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DYN
Q05193519557537555Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DYN
Q051935195571864ChainID=PRO_0000206563;Note=Dynamin-1
Q05193519557519625DomainNote=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145
Q05193519557533535HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DYN


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3'-UTR located exon skipping events that lost miRNA binding sites in DNM1

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 DNM1

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 DNM1

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_29714.655777e-011.253327e-02chr9+128219049128219252128219988128220086128220181128220341
CDRMSBBIFGexon_skip_29715.640587e-011.770415e-03chr9+128219049128219252128219988128220086128220181128220341

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNM1

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 DNM1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBRBM3exon_skip_1836554.312900e-011.537636e-08
CBRBM45exon_skip_1836554.011678e-011.754168e-07
CBRBM4exon_skip_183655-4.261374e-012.372031e-08
DLPFCHNRNPH2exon_skip_2413044.284478e-012.584938e-12
HCCILF2exon_skip_430624.366980e-016.614309e-14
HCCHNRNPH2exon_skip_430624.292060e-011.944874e-13
PCCRBM3exon_skip_1845414.926537e-012.141928e-12
PCCRBM3exon_skip_2743904.901259e-015.804814e-12
PCCILF2exon_skip_1132494.294130e-011.072718e-10
PCCSRSF9exon_skip_1132494.078408e-011.063591e-09
PCCILF2exon_skip_2413044.336575e-013.933767e-11
PCCSRSF9exon_skip_2413044.410823e-011.665467e-11
PCCHNRNPH2exon_skip_2413044.148670e-013.161725e-10
PGILF2exon_skip_2444354.411342e-011.148187e-08
PGHNRNPH2exon_skip_2444354.394317e-011.326080e-08
TCSRSF2exon_skip_2696234.018009e-019.379888e-06
TCRBM25exon_skip_2696234.166210e-014.013261e-06
TCHNRNPH2exon_skip_1085184.468605e-013.538375e-09

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RelatedDrugs for DNM1

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 DNM1

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