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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for L3MBTL4 |
 Gene summary |
| Gene information | Gene symbol | L3MBTL4 | Gene ID | 91133 |
| Gene name | L3MBTL histone methyl-lysine binding protein 4 | |
| Synonyms | HsT1031 | |
| Cytomap | 18p11.31 | |
| Type of gene | protein-coding | |
| Description | lethal(3)malignant brain tumor-like protein 4H-l(3)mbt-like protein 4L3MBTL4, histone methyl-lysine binding protein | |
| 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 |
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Gene structures and expression levels for L3MBTL4 |
| 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. |
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ENSG00000154655
| 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 L3MBTL4 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_126401 | chr18 | 5954706:5956387:5960094:5960156:5969393:5969562 | 5960094:5960156 |
| exon_skip_133812 | chr18 | 6080881:6080951:6093355:6093528:6138194:6138296 | 6093355:6093528 |
| exon_skip_140727 | chr18 | 6093355:6093528:6138194:6138296:6171828:6171942 | 6138194:6138296 |
| exon_skip_195555 | chr18 | 6171828:6171942:6213149:6213259:6215750:6215835 | 6213149:6213259 |
| exon_skip_274055 | chr18 | 5969393:5969562:6046728:6046754:6080881:6080951 | 6046728:6046754 |
| exon_skip_53470 | chr18 | 6263947:6264038:6301903:6301957:6311554:6311656 | 6301903:6301957 |
| exon_skip_69508 | chr18 | 6138194:6138296:6171828:6171942:6213149:6213259 | 6171828:6171942 |
| exon_skip_7025 | chr18 | 6046728:6046754:6080881:6080951:6093355:6093528 | 6080881:6080951 |
| exon_skip_79540 | chr18 | 6215750:6215835:6237964:6238040:6239718:6239872 | 6237964:6238040 |
| exon_skip_90728 | chr18 | 6244567:6244588:6263947:6264038:6301903:6301957 | 6263947:6264038 |
| 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 L3MBTL4 |
| 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 |
| ENST00000400105 | 6171828 | 6171942 | Frame-shift |
| ENST00000400105 | 6263947 | 6264038 | Frame-shift |
| ENST00000400105 | 6301903 | 6301957 | Frame-shift |
| ENST00000400105 | 5960094 | 5960156 | In-frame |
| ENST00000400105 | 6046728 | 6046754 | In-frame |
| ENST00000400105 | 6093355 | 6093528 | In-frame |
| ENST00000400105 | 6213149 | 6213259 | 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 |
| ENST00000400105 | 6171828 | 6171942 | Frame-shift |
| ENST00000400105 | 6237964 | 6238040 | Frame-shift |
| ENST00000400105 | 6263947 | 6264038 | Frame-shift |
| ENST00000400105 | 6301903 | 6301957 | Frame-shift |
| ENST00000400105 | 5960094 | 5960156 | In-frame |
| ENST00000400105 | 6046728 | 6046754 | In-frame |
| ENST00000400105 | 6213149 | 6213259 | 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 |
| ENST00000400105 | 6080881 | 6080951 | Frame-shift |
| ENST00000400105 | 6138194 | 6138296 | Frame-shift |
| ENST00000400105 | 6263947 | 6264038 | Frame-shift |
| ENST00000400105 | 6301903 | 6301957 | Frame-shift |
| ENST00000400105 | 5960094 | 5960156 | In-frame |
| ENST00000400105 | 6046728 | 6046754 | In-frame |
| ENST00000400105 | 6213149 | 6213259 | In-frame |
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Infer the effects of exon skipping event on protein functional features for L3MBTL4 |
p-ENSG00000154655_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 |
| ENST00000400105 | 3563 | 623 | 6213149 | 6213259 | 1031 | 1140 | 290 | 326 |
| ENST00000400105 | 3563 | 623 | 6093355 | 6093528 | 1360 | 1532 | 400 | 457 |
| ENST00000400105 | 3563 | 623 | 5960094 | 5960156 | 1802 | 1863 | 547 | 567 |
| 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 |
| ENST00000400105 | 3563 | 623 | 6213149 | 6213259 | 1031 | 1140 | 290 | 326 |
| ENST00000400105 | 3563 | 623 | 5960094 | 5960156 | 1802 | 1863 | 547 | 567 |
| 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 |
| ENST00000400105 | 3563 | 623 | 6213149 | 6213259 | 1031 | 1140 | 290 | 326 |
| ENST00000400105 | 3563 | 623 | 5960094 | 5960156 | 1802 | 1863 | 547 | 567 |
| 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 |
| Q8NA19 | 290 | 326 | 1 | 623 | Chain | ID=PRO_0000337077;Note=Lethal(3)malignant brain tumor-like protein 4 |
| Q8NA19 | 290 | 326 | 269 | 364 | Repeat | Note=MBT 3 |
| Q8NA19 | 400 | 457 | 1 | 623 | Chain | ID=PRO_0000337077;Note=Lethal(3)malignant brain tumor-like protein 4 |
| Q8NA19 | 400 | 457 | 370 | 414 | Zinc finger | Note=CCHHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01143 |
| Q8NA19 | 547 | 567 | 535 | 623 | Alternative sequence | ID=VSP_033864;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8NA19 | 547 | 567 | 1 | 623 | Chain | ID=PRO_0000337077;Note=Lethal(3)malignant brain tumor-like protein 4 |
| Q8NA19 | 547 | 567 | 543 | 607 | Domain | Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| 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 |
| Q8NA19 | 290 | 326 | 1 | 623 | Chain | ID=PRO_0000337077;Note=Lethal(3)malignant brain tumor-like protein 4 |
| Q8NA19 | 290 | 326 | 269 | 364 | Repeat | Note=MBT 3 |
| Q8NA19 | 547 | 567 | 535 | 623 | Alternative sequence | ID=VSP_033864;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8NA19 | 547 | 567 | 1 | 623 | Chain | ID=PRO_0000337077;Note=Lethal(3)malignant brain tumor-like protein 4 |
| Q8NA19 | 547 | 567 | 543 | 607 | Domain | Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
| 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 |
| Q8NA19 | 290 | 326 | 1 | 623 | Chain | ID=PRO_0000337077;Note=Lethal(3)malignant brain tumor-like protein 4 |
| Q8NA19 | 290 | 326 | 269 | 364 | Repeat | Note=MBT 3 |
| Q8NA19 | 547 | 567 | 535 | 623 | Alternative sequence | ID=VSP_033864;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q8NA19 | 547 | 567 | 1 | 623 | Chain | ID=PRO_0000337077;Note=Lethal(3)malignant brain tumor-like protein 4 |
| Q8NA19 | 547 | 567 | 543 | 607 | Domain | Note=SAM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00184 |
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3'-UTR located exon skipping events that lost miRNA binding sites in L3MBTL4 |
| 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 L3MBTL4 |
| - 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 L3MBTL4 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for L3MBTL4 |
| 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 L3MBTL4 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | SNRPA | exon_skip_90728 | 4.196084e-01 | 2.622496e-02 |
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RelatedDrugs for L3MBTL4 |
| 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 L3MBTL4 |
| 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)
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