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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 TCGA

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Exon skipping events with PSIs in GTEx

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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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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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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 date20180519
UniProtAcc

Q03111

ContextPubMed: MLLT1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

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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Exon skipping events across known transcript of Ensembl for MLLT1 from UCSC genome browser

check buttonSkipped exons in TCGA and GTEx 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

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Gene isoform structures and expression levels for MLLT1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for MLLT1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_313755196213949:6214049:6216415:6216524:6217964:62180526216415:6216524ENSG00000130382.7ENST00000252674.7
exon_skip_313757196217964:6218052:6222131:6222695:6226987:62271136222131:6222695ENSG00000130382.7ENST00000252674.7
exon_skip_313758196222131:6222695:6226987:6227113:6230580:62307246226987:6227113ENSG00000130382.7ENST00000252674.7
exon_skip_313760196226987:6227113:6230580:6230724:6262238:62623216230580:6230724ENSG00000130382.7ENST00000252674.7
exon_skip_313762196230605:6230724:6262238:6262321:6270589:62707706262238:6262321ENSG00000130382.7ENST00000252674.7

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for MLLT1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_313755196213949:6214049:6216415:6216524:6217964:62180526216415:6216524ENSG00000130382.7ENST00000252674.7
exon_skip_313757196217964:6218052:6222131:6222695:6226987:62271136222131:6222695ENSG00000130382.7ENST00000252674.7
exon_skip_313758196222131:6222695:6226987:6227113:6230580:62307246226987:6227113ENSG00000130382.7ENST00000252674.7
exon_skip_313760196226987:6227113:6230580:6230724:6262238:62623216230580:6230724ENSG00000130382.7ENST00000252674.7
exon_skip_313762196230605:6230724:6262238:6262321:6270589:62707706262238:6262321ENSG00000130382.7ENST00000252674.7

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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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 TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000025267462164156216524Frame-shift
ENST0000025267462622386262321Frame-shift
ENST0000025267462221316222695In-frame
ENST0000025267462269876227113In-frame
ENST0000025267462305806230724In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST0000025267462164156216524Frame-shift
ENST0000025267462622386262321Frame-shift
ENST0000025267462221316222695In-frame
ENST0000025267462269876227113In-frame
ENST0000025267462305806230724In-frame

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

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000025267419485596230580623072444158492140
ENST00000252674194855962269876227113585710140182
ENST000002526741948559622213162226957111274182370

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000025267419485596230580623072444158492140
ENST00000252674194855962269876227113585710140182
ENST000002526741948559622213162226957111274182370

check button Lost protein functional features of individual exon skipping events in TCGA.
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
Q03111921409294Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q031119214097104Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q0311192140114126Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q03111921401559ChainID=PRO_0000215938;Note=Protein ENL
Q03111921408112DomainNote=YEATS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00376
Q0311192140129136HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q0311192140137139TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q03111140182141143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q031111401821559ChainID=PRO_0000215938;Note=Protein ENL
Q03111140182155155Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q031111823701559ChainID=PRO_0000215938;Note=Protein ENL
Q03111182370272280Compositional biasNote=Poly-Pro
Q03111182370319325Compositional biasNote=Poly-Ser
Q03111182370240240Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q03111182370262262Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q03111182370342342Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q03111182370292292Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231;Dbxref=PMID:18691976,PMID:19369195,PMID:20068231
Q03111182370296296Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231;Dbxref=PMID:18691976,PMID:20068231
Q03111182370359359Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q03111182370361361Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q03111182370269270Sequence conflictNote=KG->NP;Ontology_term=ECO:0000305;evidence=ECO:0000305


check button Lost protein functional features of individual exon skipping events in GTEx.
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
Q03111921409294Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q031119214097104Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q0311192140114126Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q03111921401559ChainID=PRO_0000215938;Note=Protein ENL
Q03111921408112DomainNote=YEATS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00376
Q0311192140129136HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q0311192140137139TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q03111140182141143Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S
Q031111401821559ChainID=PRO_0000215938;Note=Protein ENL
Q03111140182155155Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648
Q031111823701559ChainID=PRO_0000215938;Note=Protein ENL
Q03111182370272280Compositional biasNote=Poly-Pro
Q03111182370319325Compositional biasNote=Poly-Ser
Q03111182370240240Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q03111182370262262Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q03111182370342342Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q03111182370292292Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:19369195,ECO:0000244|PubMed:20068231;Dbxref=PMID:18691976,PMID:19369195,PMID:20068231
Q03111182370296296Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231;Dbxref=PMID:18691976,PMID:20068231
Q03111182370359359Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q03111182370361361Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231
Q03111182370269270Sequence conflictNote=KG->NP;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for MLLT1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-MI-A75H-01exon_skip_313758
6226988622711362269906226990Nonsense_MutationTAp.K182*
LIHCTCGA-MI-A75H-01exon_skip_313758
6226988622711362269906226990Nonsense_MutationTAp.K182X

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
PC3JPC3_LUNG6222132622269562222966222297Frame_Shift_DelGC-p.P316fs
DV90_LUNG6222132622269562223356222337In_Frame_DelTCT-p.K302del
HEC151_ENDOMETRIUM6216416621652462164316216431Missense_MutationGAp.P431L
RERFLCAD2_LUNG6216416621652462164566216456Missense_MutationCTp.E423K
HEC59_ENDOMETRIUM6216416621652462164716216471Missense_MutationCTp.D418N
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6216416621652462165156216515Missense_MutationCTp.R403H
IGR39_SKIN6222132622269562221366222136Missense_MutationGAp.S369F
IGR37_SKIN6222132622269562221366222136Missense_MutationGAp.S369F
MFE319_ENDOMETRIUM6222132622269562221866222186Missense_MutationCAp.K352N
RCC10RGB_KIDNEY6222132622269562221996222199Missense_MutationCTp.R348Q
DANG_PANCREAS6222132622269562223286222328Missense_MutationGAp.S305L
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM6222132622269562223746222374Missense_MutationCTp.A290T
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6222132622269562224196222419Missense_MutationGAp.P275S
SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6222132622269562224736222473Missense_MutationCTp.A257T
SNU1040_LARGE_INTESTINE6222132622269562225116222511Missense_MutationGAp.A244V
SF8657_SKIN6222132622269562225116222511Missense_MutationGAp.A244V
CP67MEL_SKIN6222132622269562225466222546Missense_MutationCAp.K232N
HDMYZ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6222132622269562225846222584Missense_MutationGAp.R220C
OCUM1_STOMACH6222132622269562226256222625Missense_MutationCTp.R206H
SNUC2A_LARGE_INTESTINE6222132622269562226256222625Missense_MutationCTp.R206H
NCIH1155_LUNG6222132622269562226256222625Missense_MutationCTp.R206H
SNUC2B_LARGE_INTESTINE6222132622269562226256222625Missense_MutationCTp.R206H
SKLU1_LUNG6222132622269562226356222635Missense_MutationCGp.E203Q
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6222132622269562226406222640Missense_MutationTAp.H201L
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6222132622269562226406222640Missense_MutationTAp.H201L
BICR18_UPPER_AERODIGESTIVE_TRACT6226988622711362270106227010Missense_MutationGTp.T175N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6226988622711362270106227010Missense_MutationGTp.T175N
LNCAPCLONEFGC_PROSTATE6226988622711362270686227068Missense_MutationGAp.P156S
RH36_SOFT_TISSUE6226988622711362270856227085Missense_MutationGAp.T150M
HA7EBV_MATCHED_NORMAL_TISSUE6230581623072462305866230586Missense_MutationCTp.G139S
HA7RCC_KIDNEY6230581623072462305866230586Missense_MutationCTp.G139S
HEC6_ENDOMETRIUM6230581623072462305886230588Missense_MutationGAp.A138V
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6230581623072462305916230591Missense_MutationCTp.R137Q
22RV1_PROSTATE6230581623072462306216230621Missense_MutationGTp.P127H
KARPAS422_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6230581623072462306576230657Missense_MutationTGp.N115T
OCILY10_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6230581623072462306576230657Missense_MutationTGp.N115T
A2058_SKIN6230581623072462306636230663Missense_MutationGAp.P113L
BICR18_UPPER_AERODIGESTIVE_TRACT6262239626232162622536262253Missense_MutationGAp.H88Y
HEC1B_ENDOMETRIUM6262239626232162622646262264Missense_MutationGTp.P84H

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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.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MLLT1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MLLT1


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RelatedDrugs for MLLT1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank 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