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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 MLLT1

check button Gene summary
Gene informationGene symbol

MLLT1

Gene ID

4298

Gene nameMLLT1 super elongation complex subunit
SynonymsENL|LTG19|YEATS1
Cytomap

19p13.3

Type of geneprotein-coding
Descriptionprotein ENLCTC-503J8.6ENL/MLL fusionMLL/ENL fusion proteinMLLT1/MLL fusionYEATS domain-containing protein 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homol
Modification date20200313
UniProtAcc

Q03111,

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 MLLT1

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

ENSG00000130382
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.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

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 MLLT1

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_164835chr196216405:6216513:6217954:6218041:6222121:62221746217954:6218041
exon_skip_191999chr196222205:6222684:6226977:6227102:6230570:62307136226977:6227102
exon_skip_206554chr196213726:6213797:6213939:6214038:6216405:62165136213939:6214038
exon_skip_33307chr196222121:6222684:6226977:6227102:6230570:62307136226977:6227102
exon_skip_60312chr196222121:6222684:6226977:6227102:6230570:62305846226977:6227102

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 MLLT1

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
ENST0000025267462269776227102In-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
ENST0000025267462269776227102In-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
ENST0000025267462139396214038Frame-shift
ENST0000025267462179546218041Frame-shift
ENST0000025267462269776227102In-frame

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Infer the effects of exon skipping event on protein functional features for MLLT1

p-ENSG00000130382_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
ENST00000252674452455962269776227102585709140181

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
ENST00000252674452455962269776227102585709140181

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
ENST00000252674452455962269776227102585709140181

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
Q03111140181141143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q031111401811559ChainID=PRO_0000215938;Note=Protein ENL
Q03111140181155155Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648

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
Q03111140181141143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q031111401811559ChainID=PRO_0000215938;Note=Protein ENL
Q03111140181155155Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648

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
Q03111140181141143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q031111401811559ChainID=PRO_0000215938;Note=Protein ENL
Q03111140181155155Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648


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3'-UTR located exon skipping events that lost miRNA binding sites in MLLT1

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 MLLT1

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 MLLT1

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
ADstageROSMAPPCCexon_skip_333073.313243e-016.660000e-07chr19-622212162226846226977622710262305706230713

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MLLT1

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 MLLT1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
DLPFCSRSF2exon_skip_191999-5.150515e-017.271697e-18
DLPFCPABPN1exon_skip_191999-4.000774e-019.358571e-11
DLPFCRBM5exon_skip_191999-4.932437e-012.648939e-16
DLPFCPCBP1exon_skip_191999-4.040448e-015.861044e-11
DLPFCILF2exon_skip_191999-5.294224e-015.886123e-19
DLPFCPCBP4exon_skip_191999-4.626808e-012.706372e-14
DLPFCENOX1exon_skip_191999-4.823067e-011.462934e-15
DLPFCPUF60exon_skip_191999-5.654781e-016.161812e-22
DLPFCEWSR1exon_skip_191999-5.581678e-012.650791e-21
DLPFCSRSF1exon_skip_191999-4.537971e-019.546485e-14
DLPFCSRSF9exon_skip_191999-4.904434e-014.126897e-16
DLPFCHNRNPH2exon_skip_191999-5.466454e-012.460630e-20
DLPFCESRP1exon_skip_191999-5.232059e-011.772019e-18
FLSRSF2exon_skip_33307-4.063751e-013.591735e-07
FLSRSF11exon_skip_33307-4.434798e-012.069759e-08
FLENOX1exon_skip_33307-4.145434e-011.972895e-07
FLSRSF1exon_skip_33307-4.358035e-013.842916e-08
FLSRSF9exon_skip_33307-4.586921e-015.798649e-09
HCCPABPN1exon_skip_333075.127540e-011.045421e-19
HCCRBM6exon_skip_333075.367590e-018.981701e-22
HCCSRSF11exon_skip_333074.714568e-011.634591e-16
HCCRBM5exon_skip_333074.883670e-019.066912e-18
HCCPCBP1exon_skip_333074.283391e-011.313287e-13
HCCTRA2Aexon_skip_333074.090552e-011.950018e-12
HCCRBM4Bexon_skip_333075.083353e-012.410317e-19
IFGHNRNPH2exon_skip_33307-4.443236e-011.784548e-02
IFGESRP1exon_skip_33307-4.282376e-012.299666e-02
TCHNRNPH2exon_skip_60312-4.608037e-018.702050e-10
TCESRP1exon_skip_60312-4.958569e-012.610165e-11

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RelatedDrugs for MLLT1

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 MLLT1

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