|
||||||
|
 | |
| |
| |
| 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 MLLT6 |
 Gene summary |
| Gene information | Gene symbol | MLLT6 | Gene ID | 4302 |
| Gene name | MLLT6, PHD finger containing | |
| Synonyms | AF17 | |
| Cytomap | 17q12 | |
| Type of gene | protein-coding | |
| Description | protein AF-17ALL1-fused gene from chromosome 17 proteinMLLT6, PHD finger domain containingMyeloid/lymphoid or mixed-lineage leukemia, translocated to, 6myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog); translocated to, 6myeloid/lymphoid | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for MLLT6 |
| 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. |
 |
ENSG00000275023
| 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 |
| PCC | UP | ENST00000615441.1 | MLLT6-204:lncRNA:MLLT6 | 2.786439e+00 | 9.140952e-01 | 1.795410e-04 | 8.674164e-03 |
| STG | UP | ENST00000615858.1 | MLLT6-206:protein_coding:MLLT6 | 2.601056e+01 | 8.453711e-01 | 4.138909e-06 | 1.518782e-03 |
| CB | DOWN | ENST00000615441.1 | MLLT6-204:lncRNA:MLLT6 | 4.416993e+01 | -1.088650e+00 | 4.051512e-08 | 9.854608e-07 |
| TC | DOWN | ENST00000615441.1 | MLLT6-204:lncRNA:MLLT6 | 2.242887e+01 | -8.387525e-01 | 3.085625e-04 | 3.932970e-03 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MLLT6 |
| 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_201925 | chr17 | 38720659:38720747:38721878:38722227:38722678:38722702 | 38721878:38722227 |
| exon_skip_202263 | chr17 | 38715612:38715828:38716367:38716981:38717432:38717613 | 38716367:38716981 |
| exon_skip_215058 | chr17 | 38706951:38707029:38707486:38707540:38707763:38707799 | 38707486:38707540 |
| exon_skip_274103 | chr17 | 38707486:38707540:38707763:38707872:38709173:38709276 | 38707763:38707872 |
| exon_skip_287539 | chr17 | 38720659:38720747:38721878:38722227:38722678:38722768 | 38721878:38722227 |
| 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 |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MLLT6 |
| 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 |
| ENST00000621332 | 38707763 | 38707872 | Frame-shift |
| ENST00000621332 | 38721878 | 38722227 | Frame-shift |
| ENST00000621332 | 38716367 | 38716981 | 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 |
| ENST00000621332 | 38707763 | 38707872 | Frame-shift |
| ENST00000621332 | 38721878 | 38722227 | Frame-shift |
| ENST00000621332 | 38716367 | 38716981 | 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 |
| ENST00000621332 | 38707486 | 38707540 | Frame-shift |
| ENST00000621332 | 38707763 | 38707872 | Frame-shift |
| ENST00000621332 | 38721878 | 38722227 | Frame-shift |
| ENST00000621332 | 38716367 | 38716981 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MLLT6 |
p-ENSG00000275023_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 |
| ENST00000621332 | 7595 | 1093 | 38716367 | 38716981 | 1129 | 1742 | 346 | 550 |
| 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 |
| ENST00000621332 | 7595 | 1093 | 38716367 | 38716981 | 1129 | 1742 | 346 | 550 |
| 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 |
| ENST00000621332 | 7595 | 1093 | 38716367 | 38716981 | 1129 | 1742 | 346 | 550 |
| 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 |
| P55198 | 346 | 550 | 1 | 1093 | Chain | ID=PRO_0000215937;Note=Protein AF-17 |
| P55198 | 346 | 550 | 378 | 378 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55198 | 346 | 550 | 423 | 423 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55198 | 346 | 550 | 451 | 451 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| 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 |
| P55198 | 346 | 550 | 1 | 1093 | Chain | ID=PRO_0000215937;Note=Protein AF-17 |
| P55198 | 346 | 550 | 378 | 378 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55198 | 346 | 550 | 423 | 423 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55198 | 346 | 550 | 451 | 451 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
| 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 |
| P55198 | 346 | 550 | 1 | 1093 | Chain | ID=PRO_0000215937;Note=Protein AF-17 |
| P55198 | 346 | 550 | 378 | 378 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55198 | 346 | 550 | 423 | 423 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P55198 | 346 | 550 | 451 | 451 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19690332;Dbxref=PMID:19690332 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in MLLT6 |
| 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 |
Top |
SNVs in the skipped exons for MLLT6 |
| - 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 |
Top |
AD stage-associated exon skippint events for MLLT6 |
| 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 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MLLT6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for MLLT6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | SRSF2 | exon_skip_287539 | -4.407524e-01 | 6.089918e-09 |
| CB | ZNF638 | exon_skip_287539 | 4.162910e-01 | 4.826213e-08 |
| DLPFC | SRSF11 | exon_skip_287539 | 4.839698e-01 | 1.754044e-21 |
| DLPFC | MBNL1 | exon_skip_287539 | -4.911672e-01 | 3.613986e-22 |
| HCC | SAMD4A | exon_skip_287539 | 4.054077e-01 | 3.492267e-12 |
| TC | PUM1 | exon_skip_201925 | -5.139168e-01 | 3.647250e-12 |
| TC | HNRNPH2 | exon_skip_201925 | -5.088925e-01 | 6.379740e-12 |
| TC | ESRP1 | exon_skip_201925 | -5.338873e-01 | 3.600640e-13 |
| TC | NOVA1 | exon_skip_201925 | -4.350284e-01 | 9.006232e-09 |
Top |
RelatedDrugs for MLLT6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for MLLT6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|