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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 DIS3L2

check button Gene summary
Gene informationGene symbol

DIS3L2

Gene ID

129563

Gene nameDIS3 like 3'-5' exoribonuclease 2
SynonymsFAM6A|PRLMNS|hDIS3L2
Cytomap

2q37.1

Type of geneprotein-coding
DescriptionDIS3-like exonuclease 2DIS3 mitotic control homolog-like 2family with sequence similarity 6, member A
Modification date20200313
UniProtAcc

C9JGP4,

H7C036,

H7C1Q8,

H7C302,

H7C440,

Q8IYB7,

Context

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
DIS3L2

GO:0010587

miRNA catabolic process

24141620


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Gene structures and expression levels for DIS3L2

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

ENSG00000144535
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
CBDOWNENST00000418143.1DIS3L2-207:protein_coding:DIS3L28.847279e+00-1.557896e+002.062772e-039.455569e-03
TCDOWNENST00000418143.1DIS3L2-207:protein_coding:DIS3L21.607938e+01-1.826193e+004.319747e-061.325172e-04

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 DIS3L2

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_105362chr2232238533:232238645:232249239:232249346:232263207:232263362232249239:232249346
exon_skip_135183chr2232330690:232330776:232333840:232333987:232334369:232334454232333840:232333987
exon_skip_150015chr2232163459:232163632:232198527:232198776:232210326:232210405232198527:232198776
exon_skip_173586chr2232330690:232330776:232331670:232331926:232333840:232333987232331670:232331926
exon_skip_186047chr2232087487:232087721:232111197:232111255:232130619:232130719232111197:232111255
exon_skip_194467chr2232130619:232130719:232136472:232136719:232163459:232163632232136472:232136719
exon_skip_204594chr2232210326:232210405:232238533:232238645:232249239:232249346232238533:232238645
exon_skip_267114chr2232329886:232329996:232330690:232330776:232333840:232333987232330690:232330776
exon_skip_276758chr2232014928:232014979:232015514:232015671:232024277:232024330232015514:232015671
exon_skip_293361chr2232330695:232330776:232333840:232333987:232334369:232334454232333840:232333987
exon_skip_55943chr2232163463:232163632:232198527:232198776:232210326:232210405232198527:232198776
exon_skip_71402chr2232330695:232330776:232331670:232331926:232333840:232333987232331670:232331926
exon_skip_86421chr2232249340:232249346:232263207:232263440:232300040:232300119232263207:232263440

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 DIS3L2

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
ENST00000325385232015514232015671Frame-shift
ENST00000409307232015514232015671Frame-shift
ENST00000325385232136472232136719Frame-shift
ENST00000409307232136472232136719Frame-shift
ENST00000325385232238533232238645Frame-shift
ENST00000409307232238533232238645Frame-shift
ENST00000325385232333840232333987Frame-shift
ENST00000409307232333840232333987Frame-shift
ENST00000325385232263207232263440In-frame
ENST00000409307232263207232263440In-frame
ENST00000325385232330690232330776In-frame
ENST00000409307232330690232330776In-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
ENST00000325385232015514232015671Frame-shift
ENST00000409307232015514232015671Frame-shift
ENST00000325385232136472232136719Frame-shift
ENST00000409307232136472232136719Frame-shift
ENST00000325385232333840232333987Frame-shift
ENST00000409307232333840232333987Frame-shift

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
ENST00000325385232015514232015671Frame-shift
ENST00000409307232015514232015671Frame-shift
ENST00000325385232136472232136719Frame-shift
ENST00000409307232136472232136719Frame-shift
ENST00000325385232238533232238645Frame-shift
ENST00000409307232238533232238645Frame-shift
ENST00000325385232333840232333987Frame-shift
ENST00000409307232333840232333987Frame-shift
ENST00000325385232249239232249346In-frame
ENST00000409307232249239232249346In-frame
ENST00000325385232263207232263440In-frame
ENST00000409307232263207232263440In-frame
ENST00000325385232330690232330776In-frame
ENST00000409307232330690232330776In-frame

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Infer the effects of exon skipping event on protein functional features for DIS3L2

p-ENSG00000144535_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
ENST00000325385351888523226320723226344017031935475553
ENST00000409307267588523226320723226344014271659475553
ENST00000325385351888523233069023233077622012286641670
ENST00000409307267588523233069023233077619252010641670

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

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
ENST00000325385351888523224923923224934615951701439475
ENST00000409307267588523224923923224934613191425439475
ENST00000325385351888523226320723226344017031935475553
ENST00000409307267588523226320723226344014271659475553
ENST00000325385351888523233069023233077622012286641670
ENST00000409307267588523233069023233077619252010641670

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
Q8IYB7475553250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7475553250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7475553357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7475553357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7475553528603Alternative sequenceID=VSP_030375;Note=In isoform 3. AVLNLHGIAKQLRQQRFVDGALRLDQLKLAFTLDHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRAFPE->QNADKDGAAHLQASHSPSAEDAEAQPSTEERLPETRGICDRDPDTRLFFLQQQSRVLEAKPQNTIRVEEQTTQLQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxr
Q8IYB7475553528603Alternative sequenceID=VSP_030375;Note=In isoform 3. AVLNLHGIAKQLRQQRFVDGALRLDQLKLAFTLDHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRAFPE->QNADKDGAAHLQASHSPSAEDAEAQPSTEERLPETRGICDRDPDTRLFFLQQQSRVLEAKPQNTIRVEEQTTQLQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxr
Q8IYB74755531885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB74755531885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB7475553483483Natural variantID=VAR_067577;Note=Probable disease-associated mutation found in a patient with Wilms tumor%3B does not suppress anchorage-independent cell growth. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs186865544,PMID:22306653
Q8IYB7475553483483Natural variantID=VAR_067577;Note=Probable disease-associated mutation found in a patient with Wilms tumor%3B does not suppress anchorage-independent cell growth. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs186865544,PMID:22306653
Q8IYB7475553489489Natural variantID=VAR_067578;Note=In PRLMNS. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs387907116,PMID:22306653
Q8IYB7475553489489Natural variantID=VAR_067578;Note=In PRLMNS. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs387907116,PMID:22306653
Q8IYB7641670250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7641670250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7641670357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7641670357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7641670604885Alternative sequenceID=VSP_030377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IYB7641670604885Alternative sequenceID=VSP_030377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IYB7641670620885Alternative sequenceID=VSP_030378;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IYB7641670620885Alternative sequenceID=VSP_030378;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IYB76416701885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB76416701885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2

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

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
Q8IYB7439475250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7439475250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7439475357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7439475357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB74394751885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB74394751885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB7439475443443Natural variantID=VAR_079527;Note=In PRLMNS%3B unknown pathological significance. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328139;Dbxref=PMID:28328139
Q8IYB7439475443443Natural variantID=VAR_079527;Note=In PRLMNS%3B unknown pathological significance. M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28328139;Dbxref=PMID:28328139
Q8IYB7475553250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7475553250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7475553357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7475553357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7475553528603Alternative sequenceID=VSP_030375;Note=In isoform 3. AVLNLHGIAKQLRQQRFVDGALRLDQLKLAFTLDHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRAFPE->QNADKDGAAHLQASHSPSAEDAEAQPSTEERLPETRGICDRDPDTRLFFLQQQSRVLEAKPQNTIRVEEQTTQLQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxr
Q8IYB7475553528603Alternative sequenceID=VSP_030375;Note=In isoform 3. AVLNLHGIAKQLRQQRFVDGALRLDQLKLAFTLDHETGLPQGCHIYEYRESNKLVEEFMLLANMAVAHKIHRAFPE->QNADKDGAAHLQASHSPSAEDAEAQPSTEERLPETRGICDRDPDTRLFFLQQQSRVLEAKPQNTIRVEEQTTQLQI;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxr
Q8IYB74755531885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB74755531885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB7475553483483Natural variantID=VAR_067577;Note=Probable disease-associated mutation found in a patient with Wilms tumor%3B does not suppress anchorage-independent cell growth. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs186865544,PMID:22306653
Q8IYB7475553483483Natural variantID=VAR_067577;Note=Probable disease-associated mutation found in a patient with Wilms tumor%3B does not suppress anchorage-independent cell growth. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs186865544,PMID:22306653
Q8IYB7475553489489Natural variantID=VAR_067578;Note=In PRLMNS. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs387907116,PMID:22306653
Q8IYB7475553489489Natural variantID=VAR_067578;Note=In PRLMNS. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22306653;Dbxref=dbSNP:rs387907116,PMID:22306653
Q8IYB7641670250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7641670250885Alternative sequenceID=VSP_030373;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17974005,ECO:0000303|Ref.3;Dbxref=PMID:17974005
Q8IYB7641670357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7641670357885Alternative sequenceID=VSP_030374;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:17974005;Dbxref=PMID:17974005
Q8IYB7641670604885Alternative sequenceID=VSP_030377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IYB7641670604885Alternative sequenceID=VSP_030377;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q8IYB7641670620885Alternative sequenceID=VSP_030378;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IYB7641670620885Alternative sequenceID=VSP_030378;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q8IYB76416701885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2
Q8IYB76416701885ChainID=PRO_0000314817;Note=DIS3-like exonuclease 2


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3'-UTR located exon skipping events that lost miRNA binding sites in DIS3L2

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 DIS3L2

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 DIS3L2

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

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DIS3L2

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 DIS3L2

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBHNRNPA2B1exon_skip_1944674.114758e-011.149059e-07
CBCNOT4exon_skip_293361-5.213328e-012.551656e-12
IFGRBM25exon_skip_194467-5.411270e-019.305012e-03
IFGRBM6exon_skip_194467-4.255860e-014.830146e-02
IFGSRSF11exon_skip_194467-4.952590e-011.909718e-02
IFGMBNL1exon_skip_194467-4.720346e-012.655065e-02
IFGIGF2BP2exon_skip_194467-4.591382e-013.159419e-02
IFGRBM47exon_skip_194467-4.580056e-013.207097e-02
IFGPTBP1exon_skip_194467-4.410966e-013.988828e-02
IFGPABPC4exon_skip_194467-4.801631e-012.371648e-02
IFGSRSF1exon_skip_194467-4.615837e-013.058384e-02
IFGSRSF9exon_skip_194467-5.058528e-011.631142e-02
IFGSRSF5exon_skip_194467-4.749377e-012.550906e-02
IFGSART3exon_skip_194467-4.488103e-013.615569e-02
IFGPABPN1Lexon_skip_1500155.284052e-015.521047e-03
IFGPTBP1exon_skip_1500155.126977e-017.403266e-03

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RelatedDrugs for DIS3L2

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 DIS3L2

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