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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for MLLT1 |
Gene summary |
Gene information | Gene symbol | MLLT1 | Gene ID | 4298 |
Gene name | MLLT1 super elongation complex subunit | |
Synonyms | ENL|LTG19|YEATS1 | |
Cytomap | 19p13.3 | |
Type of gene | protein-coding | |
Description | protein 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 date | 20200313 | |
UniProtAcc | Q03111, | |
Context |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for MLLT1 |
Skipped 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. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MLLT1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_164835 | chr19 | 6216405:6216513:6217954:6218041:6222121:6222174 | 6217954:6218041 |
exon_skip_191999 | chr19 | 6222205:6222684:6226977:6227102:6230570:6230713 | 6226977:6227102 |
exon_skip_206554 | chr19 | 6213726:6213797:6213939:6214038:6216405:6216513 | 6213939:6214038 |
exon_skip_33307 | chr19 | 6222121:6222684:6226977:6227102:6230570:6230713 | 6226977:6227102 |
exon_skip_60312 | chr19 | 6222121:6222684:6226977:6227102:6230570:6230584 | 6226977:6227102 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MLLT1 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000252674 | 6226977 | 6227102 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000252674 | 6226977 | 6227102 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000252674 | 6213939 | 6214038 | Frame-shift |
ENST00000252674 | 6217954 | 6218041 | Frame-shift |
ENST00000252674 | 6226977 | 6227102 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MLLT1 |
p-ENSG00000130382_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000252674 | 4524 | 559 | 6226977 | 6227102 | 585 | 709 | 140 | 181 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000252674 | 4524 | 559 | 6226977 | 6227102 | 585 | 709 | 140 | 181 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000252674 | 4524 | 559 | 6226977 | 6227102 | 585 | 709 | 140 | 181 |
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 feature | Description of feature |
Q03111 | 140 | 181 | 141 | 143 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S |
Q03111 | 140 | 181 | 1 | 559 | Chain | ID=PRO_0000215938;Note=Protein ENL |
Q03111 | 140 | 181 | 155 | 155 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
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 feature | Description of feature |
Q03111 | 140 | 181 | 141 | 143 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S |
Q03111 | 140 | 181 | 1 | 559 | Chain | ID=PRO_0000215938;Note=Protein ENL |
Q03111 | 140 | 181 | 155 | 155 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
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 feature | Description of feature |
Q03111 | 140 | 181 | 141 | 143 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5J9S |
Q03111 | 140 | 181 | 1 | 559 | Chain | ID=PRO_0000215938;Note=Protein ENL |
Q03111 | 140 | 181 | 155 | 155 | Modified residue | Note=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 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MLLT1 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MLLT1 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
ADstage | ROSMAP | PCC | exon_skip_33307 | 3.313243e-01 | 6.660000e-07 | chr19 | - | 6222121 | 6222684 | 6226977 | 6227102 | 6230570 | 6230713 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MLLT1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MLLT1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
DLPFC | SRSF2 | exon_skip_191999 | -5.150515e-01 | 7.271697e-18 |
DLPFC | PABPN1 | exon_skip_191999 | -4.000774e-01 | 9.358571e-11 |
DLPFC | RBM5 | exon_skip_191999 | -4.932437e-01 | 2.648939e-16 |
DLPFC | PCBP1 | exon_skip_191999 | -4.040448e-01 | 5.861044e-11 |
DLPFC | ILF2 | exon_skip_191999 | -5.294224e-01 | 5.886123e-19 |
DLPFC | PCBP4 | exon_skip_191999 | -4.626808e-01 | 2.706372e-14 |
DLPFC | ENOX1 | exon_skip_191999 | -4.823067e-01 | 1.462934e-15 |
DLPFC | PUF60 | exon_skip_191999 | -5.654781e-01 | 6.161812e-22 |
DLPFC | EWSR1 | exon_skip_191999 | -5.581678e-01 | 2.650791e-21 |
DLPFC | SRSF1 | exon_skip_191999 | -4.537971e-01 | 9.546485e-14 |
DLPFC | SRSF9 | exon_skip_191999 | -4.904434e-01 | 4.126897e-16 |
DLPFC | HNRNPH2 | exon_skip_191999 | -5.466454e-01 | 2.460630e-20 |
DLPFC | ESRP1 | exon_skip_191999 | -5.232059e-01 | 1.772019e-18 |
FL | SRSF2 | exon_skip_33307 | -4.063751e-01 | 3.591735e-07 |
FL | SRSF11 | exon_skip_33307 | -4.434798e-01 | 2.069759e-08 |
FL | ENOX1 | exon_skip_33307 | -4.145434e-01 | 1.972895e-07 |
FL | SRSF1 | exon_skip_33307 | -4.358035e-01 | 3.842916e-08 |
FL | SRSF9 | exon_skip_33307 | -4.586921e-01 | 5.798649e-09 |
HCC | PABPN1 | exon_skip_33307 | 5.127540e-01 | 1.045421e-19 |
HCC | RBM6 | exon_skip_33307 | 5.367590e-01 | 8.981701e-22 |
HCC | SRSF11 | exon_skip_33307 | 4.714568e-01 | 1.634591e-16 |
HCC | RBM5 | exon_skip_33307 | 4.883670e-01 | 9.066912e-18 |
HCC | PCBP1 | exon_skip_33307 | 4.283391e-01 | 1.313287e-13 |
HCC | TRA2A | exon_skip_33307 | 4.090552e-01 | 1.950018e-12 |
HCC | RBM4B | exon_skip_33307 | 5.083353e-01 | 2.410317e-19 |
IFG | HNRNPH2 | exon_skip_33307 | -4.443236e-01 | 1.784548e-02 |
IFG | ESRP1 | exon_skip_33307 | -4.282376e-01 | 2.299666e-02 |
TC | HNRNPH2 | exon_skip_60312 | -4.608037e-01 | 8.702050e-10 |
TC | ESRP1 | exon_skip_60312 | -4.958569e-01 | 2.610165e-11 |
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RelatedDrugs for MLLT1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MLLT1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |