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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 DYNC1I2

check button Gene summary
Gene informationGene symbol

DYNC1I2

Gene ID

1781

Gene namedynein cytoplasmic 1 intermediate chain 2
SynonymsDIC74|DNCI2|IC2|NEDMIBA
Cytomap

2q31.1

Type of geneprotein-coding
Descriptioncytoplasmic dynein 1 intermediate chain 2DH IC-2dynein intermediate chain 2, cytosolicdynein, cytoplasmic, intermediate polypeptide 2testis tissue sperm-binding protein Li 66n
Modification date20200315
UniProtAcc

E7EMU4,

E7EQL5,

E7EQU2,

E7ERH4,

E7ERR6,

E7ESD3,

E7ET01,

E7ETL8,

E7EU01,

E7EUM4,

E7EV09,

E9PGG1,

Q13409,

Context

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 DYNC1I2

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

ENSG00000077380
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
PCCUPENST00000479806.1DYNC1I2-223:retained_intron:DYNC1I23.500490e+011.634571e+001.261848e-063.061112e-04
PCCUPENST00000456808.5DYNC1I2-219:protein_coding:DYNC1I28.645199e+001.182270e+003.448744e-041.302564e-02
HCCUPENST00000479806.1DYNC1I2-223:retained_intron:DYNC1I21.680112e+011.299936e+001.230913e-048.311657e-03
CBDOWNENST00000479806.1DYNC1I2-223:retained_intron:DYNC1I23.700587e+02-1.138881e+002.091818e-062.806621e-05
CBUPENST00000438879.5DYNC1I2-215:protein_coding:DYNC1I28.915930e+002.233959e+002.856257e-063.658275e-05
CBUPENST00000411953.5DYNC1I2-208:protein_coding:DYNC1I21.041778e+011.268688e+009.383970e-057.018218e-04
TCDOWNENST00000479806.1DYNC1I2-223:retained_intron:DYNC1I22.901425e+02-2.070424e+002.278212e-127.461468e-10

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 DYNC1I2

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_107104chr2171690147:171690263:171692777:171692894:171707233:171707377171692777:171692894
exon_skip_116414chr2171692777:171692894:171707233:171707377:171715328:171715350171707233:171707377
exon_skip_122272chr2171692777:171692894:171707287:171707377:171715328:171715350171707287:171707377
exon_skip_131233chr2171692781:171692894:171707233:171707377:171715328:171715443171707233:171707377
exon_skip_139143chr2171692777:171692894:171707287:171707377:171712767:171712779171707287:171707377
exon_skip_139764chr2171692777:171692894:171707233:171707377:171712767:171712779171707233:171707377
exon_skip_149560chr2171692777:171692894:171707233:171707377:171715328:171715443171707233:171707377
exon_skip_174503chr2171725919:171726081:171726194:171726293:171726791:171726852171726194:171726293
exon_skip_17669chr2171690147:171690263:171692777:171692894:171707287:171707377171692777:171692894
exon_skip_178062chr2171692777:171692894:171707287:171707377:171715328:171715443171707287:171707377
exon_skip_180734chr2171707287:171707377:171712767:171712826:171715328:171715350171712767:171712826
exon_skip_181210chr2171690147:171690263:171692777:171692894:171715328:171715350171692777:171692894
exon_skip_21687chr2171692781:171692894:171715328:171715443:171725618:171725650171715328:171715443
exon_skip_250924chr2171727821:171727967:171728305:171728418:171728717:171728768171728305:171728418
exon_skip_260222chr2171692781:171692894:171706547:171706564:171707287:171707377171706547:171706564
exon_skip_271271chr2171727821:171727967:171728305:171728418:171728717:171728850171728305:171728418
exon_skip_35903chr2171692777:171692894:171706547:171706564:171707287:171707377171706547:171706564
exon_skip_44799chr2171692777:171692894:171715328:171715443:171725618:171725650171715328:171715443
exon_skip_52926chr2171715390:171715443:171725618:171725713:171725919:171725946171725618:171725713
exon_skip_75347chr2171692781:171692894:171707287:171707377:171715328:171715443171707287:171707377

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_180734MSBB_PG1.632450e-012.998276e-01-1.365826e-012.111467e-08


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Open reading frame (ORF) annotation in the exon skipping event for DYNC1I2

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
ENST00000397119171726194171726293Frame-shift
ENST00000409773171726194171726293Frame-shift
ENST00000397119171706547171706564In-frame
ENST00000409773171706547171706564In-frame
ENST00000397119171712767171712826In-frame
ENST00000409773171712767171712826In-frame
ENST00000397119171725618171725713In-frame
ENST00000409773171725618171725713In-frame
ENST00000397119171728305171728418In-frame
ENST00000409773171728305171728418In-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
ENST00000397119171706547171706564In-frame
ENST00000409773171706547171706564In-frame
ENST00000397119171712767171712826In-frame
ENST00000409773171712767171712826In-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
ENST00000397119171726194171726293Frame-shift
ENST00000409773171726194171726293Frame-shift
ENST00000397119171706547171706564In-frame
ENST00000409773171706547171706564In-frame
ENST00000397119171712767171712826In-frame
ENST00000409773171712767171712826In-frame
ENST00000397119171725618171725713In-frame
ENST00000409773171725618171725713In-frame
ENST00000397119171728305171728418In-frame
ENST00000409773171728305171728418In-frame

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Infer the effects of exon skipping event on protein functional features for DYNC1I2

p-ENSG00000077380_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
ENST000003971192621638171712767171712826504562112131
ENST000004097732600638171712767171712826476534112131
ENST000003971192621638171725618171725713680774171202
ENST000004097732600638171725618171725713652746171202
ENST00000397119262163817172830517172841813121424381419
ENST00000409773260063817172830517172841812841396381419

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
ENST000003971192621638171712767171712826504562112131
ENST000004097732600638171712767171712826476534112131

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
ENST000003971192621638171712767171712826504562112131
ENST000004097732600638171712767171712826476534112131
ENST000003971192621638171725618171725713680774171202
ENST000004097732600638171725618171725713652746171202
ENST00000397119262163817172830517172841813121424381419
ENST00000409773260063817172830517172841812841396381419

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
Q13409112131113132Alternative sequenceID=VSP_001337;Note=In isoform 2C%2C isoform 2F and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:00
Q13409112131113132Alternative sequenceID=VSP_001337;Note=In isoform 2C%2C isoform 2F and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:00
Q134091121312638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134091121312638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134091712022638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134091712022638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q13409381419384389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419384389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419398402Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419398402Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419405410Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419405410Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419419423Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419419423Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q134093814192638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134093814192638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q13409381419379420RepeatNote=WD 3
Q13409381419379420RepeatNote=WD 3
Q13409381419393395TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419393395TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U

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
Q13409112131113132Alternative sequenceID=VSP_001337;Note=In isoform 2C%2C isoform 2F and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:00
Q13409112131113132Alternative sequenceID=VSP_001337;Note=In isoform 2C%2C isoform 2F and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:00
Q134091121312638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134091121312638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2

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
Q13409112131113132Alternative sequenceID=VSP_001337;Note=In isoform 2C%2C isoform 2F and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:00
Q13409112131113132Alternative sequenceID=VSP_001337;Note=In isoform 2C%2C isoform 2F and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:17974005,ECO:00
Q134091121312638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134091121312638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134091712022638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134091712022638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q13409381419384389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419384389Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419398402Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419398402Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419405410Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419405410Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419419423Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419419423Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q134093814192638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q134093814192638ChainID=PRO_0000114655;Note=Cytoplasmic dynein 1 intermediate chain 2
Q13409381419379420RepeatNote=WD 3
Q13409381419379420RepeatNote=WD 3
Q13409381419393395TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U
Q13409381419393395TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6F1U


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3'-UTR located exon skipping events that lost miRNA binding sites in DYNC1I2

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 DYNC1I2

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 DYNC1I2

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
ADstageMSBBPGexon_skip_180734-3.955287e-013.080000e-09chr2+171707287171707377171712767171712826171715328171715350
ADstageROSMAPPCCexon_skip_180734-3.097637e-013.660000e-06chr2+171707287171707377171712767171712826171715328171715350
CDRMSBBPGexon_skip_180734-4.951389e-012.510000e-14chr2+171707287171707377171712767171712826171715328171715350

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DYNC1I2

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR
TCexon_skip_180734rs7602864chr2:1716310671.166173e-052.813114e-03

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Correlation with RNA binding proteins (RBPs) for DYNC1I2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBFXR2exon_skip_1807344.316077e-011.346060e-08
FLRALYLexon_skip_359034.654708e-014.861040e-12
FLMBNL1exon_skip_1807344.378342e-011.115120e-10
FLFXR2exon_skip_1807344.814610e-016.949091e-13
HCCRBM6exon_skip_35903-6.549764e-017.789979e-35
HCCU2AF2exon_skip_35903-4.820995e-012.698212e-17
HCCTIA1exon_skip_35903-5.415857e-013.294074e-22
HCCTRNAU1APexon_skip_35903-5.675244e-011.127511e-24
HCCFUBP1exon_skip_35903-5.248485e-019.974764e-21
HCCRALYexon_skip_35903-7.003341e-011.444979e-41
HCCPTBP1exon_skip_35903-7.196840e-017.691679e-45
HCCRBMS3exon_skip_180734-5.261714e-017.670003e-21
IFGRBM24exon_skip_359035.121865e-015.329457e-03
IFGRALYLexon_skip_359035.006272e-016.661240e-03
IFGPTBP1exon_skip_35903-4.144021e-012.834464e-02
IFGFXR2exon_skip_1807344.997263e-016.775902e-03
PCCRALYLexon_skip_2602224.045766e-017.128686e-10
PCCPTBP1exon_skip_260222-5.600485e-013.771531e-19
PGRBM24exon_skip_359034.755127e-018.598832e-13
PGRALYLexon_skip_359035.770635e-012.499721e-19
PGCELF1exon_skip_359034.274159e-012.238053e-10
PGFXR2exon_skip_1807345.083677e-013.906258e-15
STGRBM24exon_skip_359034.668095e-012.725390e-06
STGRALYLexon_skip_359035.850161e-019.135171e-10
STGPTBP1exon_skip_35903-4.423854e-011.008953e-05
TCELAVL1exon_skip_359034.437641e-014.168583e-09
TCRBM24exon_skip_359037.934547e-016.738731e-36
TCRALYLexon_skip_359038.715558e-018.979254e-51
TCPTBP3exon_skip_359035.354427e-012.987148e-13
TCCELF1exon_skip_359036.023041e-013.604549e-17
TCFXR2exon_skip_1807345.119721e-014.533465e-12

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RelatedDrugs for DYNC1I2

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 DYNC1I2

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