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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 LGMN |
Gene summary |
Gene information | Gene symbol | LGMN | Gene ID | 5641 |
Gene name | legumain | |
Synonyms | AEP|LGMN1|PRSC1 | |
Cytomap | 14q32.12 | |
Type of gene | protein-coding | |
Description | legumainasparaginyl endopeptidasecysteine protease 1protease, cysteine 1protease, cysteine, 1 (legumain) | |
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 |
LGMN | GO:0010447 | response to acidic pH | 18374643 |
LGMN | GO:0035729 | cellular response to hepatocyte growth factor stimulus | 21237226 |
LGMN | GO:0071277 | cellular response to calcium ion | 21237226 |
LGMN | GO:0090026 | positive regulation of monocyte chemotaxis | 18377911 |
LGMN | GO:0097202 | activation of cysteine-type endopeptidase activity | 9821970|18374643 |
LGMN | GO:0097264 | self proteolysis | 9821970|18374643 |
LGMN | GO:1904646 | cellular response to amyloid-beta | 25326800 |
LGMN | GO:2001028 | positive regulation of endothelial cell chemotaxis | 18377911 |
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Gene structures and expression levels for LGMN |
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 |
CB | DOWN | ENST00000555169.1 | LGMN-210:protein_coding:LGMN | 5.875788e+01 | -1.711862e+00 | 1.975997e-07 | 3.779175e-06 |
TC | DOWN | ENST00000555169.1 | LGMN-210:protein_coding:LGMN | 1.101680e+02 | -8.129178e-01 | 4.812663e-04 | 5.582819e-03 |
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 LGMN |
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_111809 | chr14 | 92732728:92732815:92741062:92741179:92748489:92748512 | 92741062:92741179 |
exon_skip_11571 | chr14 | 92704276:92704361:92704640:92704707:92709672:92709750 | 92704640:92704707 |
exon_skip_124907 | chr14 | 92704293:92704361:92704640:92704707:92706483:92706653 | 92704640:92704707 |
exon_skip_128257 | chr14 | 92732649:92732815:92741718:92741859:92748489:92748570 | 92741718:92741859 |
exon_skip_132396 | chr14 | 92704276:92704361:92704640:92704707:92709672:92709741 | 92704640:92704707 |
exon_skip_135218 | chr14 | 92732728:92732815:92741062:92741179:92748489:92748570 | 92741062:92741179 |
exon_skip_143480 | chr14 | 92704640:92704707:92706483:92706653:92709672:92709750 | 92706483:92706653 |
exon_skip_143675 | chr14 | 92732649:92732815:92741705:92741859:92748489:92748518 | 92741705:92741859 |
exon_skip_157867 | chr14 | 92732649:92732815:92741705:92741859:92748489:92748627 | 92741705:92741859 |
exon_skip_161784 | chr14 | 92732649:92732815:92741705:92741859:92748489:92748570 | 92741705:92741859 |
exon_skip_184609 | chr14 | 92732728:92732815:92733682:92733810:92748489:92748627 | 92733682:92733810 |
exon_skip_18765 | chr14 | 92714424:92714451:92716136:92716221:92717380:92717447 | 92716136:92716221 |
exon_skip_204600 | chr14 | 92704296:92704361:92704640:92704707:92706483:92706653 | 92704640:92704707 |
exon_skip_214027 | chr14 | 92704640:92704707:92706483:92706653:92709672:92709872 | 92706483:92706653 |
exon_skip_214159 | chr14 | 92717380:92717461:92718774:92718844:92732649:92732815 | 92718774:92718844 |
exon_skip_215691 | chr14 | 92732649:92732815:92741718:92741859:92748489:92748518 | 92741718:92741859 |
exon_skip_219969 | chr14 | 92704276:92704361:92704640:92704707:92709672:92709872 | 92704640:92704707 |
exon_skip_241147 | chr14 | 92732649:92732815:92741718:92741859:92748489:92748627 | 92741718:92741859 |
exon_skip_241278 | chr14 | 92717380:92717461:92718747:92718844:92732649:92732815 | 92718747:92718844 |
exon_skip_278480 | chr14 | 92704276:92704361:92704640:92704707:92706483:92706653 | 92704640:92704707 |
exon_skip_281601 | chr14 | 92732649:92732815:92741718:92741859:92748489:92748512 | 92741718:92741859 |
exon_skip_28391 | chr14 | 92732728:92732815:92741062:92741179:92748489:92748518 | 92741062:92741179 |
exon_skip_42673 | chr14 | 92714376:92714451:92716136:92716221:92717380:92717461 | 92716136:92716221 |
exon_skip_439 | chr14 | 92732649:92732815:92741062:92741179:92748489:92748627 | 92741062:92741179 |
exon_skip_60524 | chr14 | 92704640:92704707:92706483:92706653:92709672:92709741 | 92706483:92706653 |
exon_skip_71646 | chr14 | 92732649:92732815:92733682:92733810:92748489:92748627 | 92733682:92733810 |
exon_skip_86749 | chr14 | 92711837:92711955:92712805:92712871:92713823:92713885 | 92712805:92712871 |
exon_skip_99346 | chr14 | 92713852:92713885:92714376:92714451:92716136:92716221 | 92714376:92714451 |
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 |
exon_skip_241278 | Mayo_CB | 8.030000e-01 | 9.205882e-01 | -1.175882e-01 | 1.320117e-06 |
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Open reading frame (ORF) annotation in the exon skipping event for LGMN |
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 |
ENST00000393218 | 92741062 | 92741179 | 3UTR-3UTR |
ENST00000334869 | 92704640 | 92704707 | Frame-shift |
ENST00000393218 | 92704640 | 92704707 | Frame-shift |
ENST00000334869 | 92712805 | 92712871 | Frame-shift |
ENST00000393218 | 92712805 | 92712871 | Frame-shift |
ENST00000334869 | 92714376 | 92714451 | Frame-shift |
ENST00000393218 | 92714376 | 92714451 | Frame-shift |
ENST00000334869 | 92716136 | 92716221 | Frame-shift |
ENST00000393218 | 92716136 | 92716221 | Frame-shift |
ENST00000334869 | 92718747 | 92718844 | Frame-shift |
ENST00000393218 | 92718747 | 92718844 | Frame-shift |
ENST00000334869 | 92706483 | 92706653 | In-frame |
ENST00000393218 | 92706483 | 92706653 | 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 |
ENST00000393218 | 92741062 | 92741179 | 3UTR-3UTR |
ENST00000334869 | 92704640 | 92704707 | Frame-shift |
ENST00000393218 | 92704640 | 92704707 | Frame-shift |
ENST00000334869 | 92718747 | 92718844 | Frame-shift |
ENST00000393218 | 92718747 | 92718844 | Frame-shift |
ENST00000334869 | 92706483 | 92706653 | In-frame |
ENST00000393218 | 92706483 | 92706653 | 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 |
ENST00000393218 | 92741062 | 92741179 | 3UTR-3UTR |
ENST00000334869 | 92704640 | 92704707 | Frame-shift |
ENST00000393218 | 92704640 | 92704707 | Frame-shift |
ENST00000334869 | 92712805 | 92712871 | Frame-shift |
ENST00000393218 | 92712805 | 92712871 | Frame-shift |
ENST00000334869 | 92716136 | 92716221 | Frame-shift |
ENST00000393218 | 92716136 | 92716221 | Frame-shift |
ENST00000334869 | 92718747 | 92718844 | Frame-shift |
ENST00000393218 | 92718747 | 92718844 | Frame-shift |
ENST00000334869 | 92706483 | 92706653 | In-frame |
ENST00000393218 | 92706483 | 92706653 | In-frame |
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Infer the effects of exon skipping event on protein functional features for LGMN |
p-ENSG00000100600_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 |
ENST00000334869 | 2072 | 433 | 92706483 | 92706653 | 1264 | 1433 | 340 | 396 |
ENST00000393218 | 2132 | 433 | 92706483 | 92706653 | 1359 | 1528 | 340 | 396 |
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 |
ENST00000334869 | 2072 | 433 | 92706483 | 92706653 | 1264 | 1433 | 340 | 396 |
ENST00000393218 | 2132 | 433 | 92706483 | 92706653 | 1359 | 1528 | 340 | 396 |
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 |
ENST00000334869 | 2072 | 433 | 92706483 | 92706653 | 1264 | 1433 | 340 | 396 |
ENST00000393218 | 2132 | 433 | 92706483 | 92706653 | 1359 | 1528 | 340 | 396 |
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 |
Q99538 | 340 | 396 | 341 | 397 | Alternative sequence | ID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 397 | Alternative sequence | ID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 372 | Alternative sequence | ID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 372 | Alternative sequence | ID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 373 | 433 | Alternative sequence | ID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 373 | 433 | Alternative sequence | ID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 378 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 378 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 390 | 429 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 390 | 429 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 324 | 433 | Propeptide | ID=PRO_0000026503 |
Q99538 | 340 | 396 | 324 | 433 | Propeptide | ID=PRO_0000026503 |
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 |
Q99538 | 340 | 396 | 341 | 397 | Alternative sequence | ID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 397 | Alternative sequence | ID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 372 | Alternative sequence | ID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 372 | Alternative sequence | ID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 373 | 433 | Alternative sequence | ID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 373 | 433 | Alternative sequence | ID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 378 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 378 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 390 | 429 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 390 | 429 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 324 | 433 | Propeptide | ID=PRO_0000026503 |
Q99538 | 340 | 396 | 324 | 433 | Propeptide | ID=PRO_0000026503 |
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 |
Q99538 | 340 | 396 | 341 | 397 | Alternative sequence | ID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 397 | Alternative sequence | ID=VSP_056454;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 372 | Alternative sequence | ID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 341 | 372 | Alternative sequence | ID=VSP_056455;Note=In isoform 3. ARHLIEKSVRKIVSLLAASEAEVEQLLSERAP->DKIVHGPRVPWSLLKSCLLEAFPSVSAPPTVC;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 373 | 433 | Alternative sequence | ID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 373 | 433 | Alternative sequence | ID=VSP_056456;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.3 |
Q99538 | 340 | 396 | 378 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 378 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 390 | 429 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 390 | 429 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q99538 | 340 | 396 | 324 | 433 | Propeptide | ID=PRO_0000026503 |
Q99538 | 340 | 396 | 324 | 433 | Propeptide | ID=PRO_0000026503 |
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3'-UTR located exon skipping events that lost miRNA binding sites in LGMN |
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 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-1976 | chr14:92741091-92741098 | 8mer-1a | chr14:92741078-92741098 | 149.00 | -24.39 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-6747-3p | chr14:92741089-92741096 | 8mer-1a | chr14:92741078-92741098 | 149.00 | -24.39 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-3664-5p | chr14:92741167-92741174 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-6778-3p | chr14:92741112-92741119 | 8mer-1a | chr14:92741108-92741130 | 162.00 | -21.71 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-367-5p | chr14:92741164-92741171 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-550b-3p | chr14:92741170-92741177 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-4284 | chr14:92741129-92741136 | 8mer-1a | chr14:92741127-92741149 | 156.00 | -19.33 |
Mayo | ENST00000393218 | 92741062 | 92741179 | hsa-miR-504-3p | chr14:92741150-92741157 | 8mer-1a | chr14:92741136-92741157 | 166.00 | -30.16 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-1976 | chr14:92741091-92741098 | 8mer-1a | chr14:92741078-92741098 | 149.00 | -24.39 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-6747-3p | chr14:92741089-92741096 | 8mer-1a | chr14:92741078-92741098 | 149.00 | -24.39 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-3664-5p | chr14:92741167-92741174 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-6778-3p | chr14:92741112-92741119 | 8mer-1a | chr14:92741108-92741130 | 162.00 | -21.71 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-367-5p | chr14:92741164-92741171 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-550b-3p | chr14:92741170-92741177 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-4284 | chr14:92741129-92741136 | 8mer-1a | chr14:92741127-92741149 | 156.00 | -19.33 |
MSBB | ENST00000393218 | 92741062 | 92741179 | hsa-miR-504-3p | chr14:92741150-92741157 | 8mer-1a | chr14:92741136-92741157 | 166.00 | -30.16 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-1976 | chr14:92741091-92741098 | 8mer-1a | chr14:92741078-92741098 | 149.00 | -24.39 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-6747-3p | chr14:92741089-92741096 | 8mer-1a | chr14:92741078-92741098 | 149.00 | -24.39 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-3664-5p | chr14:92741167-92741174 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-6778-3p | chr14:92741112-92741119 | 8mer-1a | chr14:92741108-92741130 | 162.00 | -21.71 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-367-5p | chr14:92741164-92741171 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-550b-3p | chr14:92741170-92741177 | 8mer-1a | chr14:92741154-92741179 | 157.00 | -24.80 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-4284 | chr14:92741129-92741136 | 8mer-1a | chr14:92741127-92741149 | 156.00 | -19.33 |
ROSMAP | ENST00000393218 | 92741062 | 92741179 | hsa-miR-504-3p | chr14:92741150-92741157 | 8mer-1a | chr14:92741136-92741157 | 166.00 | -30.16 |
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SNVs in the skipped exons for LGMN |
- 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 LGMN |
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 LGMN |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
TC | exon_skip_132396 | rs3783933 | chr14:92711055 | 3.652477e-04 | 4.588459e-02 |
HCC | exon_skip_278480 | rs1242118 | chr14:92720273 | 1.658790e-04 | 1.393904e-02 |
HCC | exon_skip_278480 | rs4904977 | chr14:92705208 | 2.187130e-04 | 1.745943e-02 |
HCC | exon_skip_278480 | rs1242119 | chr14:92716121 | 5.448465e-04 | 3.629437e-02 |
HCC | exon_skip_278480 | rs9791 | chr14:92704648 | 5.977946e-04 | 3.899708e-02 |
HCC | exon_skip_278480 | rs716097 | chr14:92712122 | 7.984504e-04 | 4.900875e-02 |
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Correlation with RNA binding proteins (RBPs) for LGMN |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | PCBP4 | exon_skip_167411 | 4.207772e-01 | 3.385801e-07 |
CB | RBM4 | exon_skip_167411 | -6.374614e-01 | 7.157668e-17 |
CB | RBM4B | exon_skip_167411 | -4.452570e-01 | 5.589304e-08 |
CB | RBM4 | exon_skip_214027 | -6.245019e-01 | 2.340078e-18 |
CB | RBM4B | exon_skip_214027 | -4.615828e-01 | 1.168617e-09 |
CB | TARDBP | exon_skip_63107 | -4.270754e-01 | 5.031713e-08 |
CB | U2AF2 | exon_skip_63107 | -5.288196e-01 | 3.498004e-12 |
CB | CNOT4 | exon_skip_63107 | -4.431814e-01 | 1.351824e-08 |
CB | TRA2A | exon_skip_63107 | -4.426852e-01 | 1.409134e-08 |
CB | TRA2A | exon_skip_241278 | -5.737780e-01 | 2.481867e-14 |
CB | NUP42 | exon_skip_241278 | 5.104988e-01 | 3.395269e-11 |
CB | RBM4 | exon_skip_241278 | -7.844413e-01 | 4.291404e-32 |
CB | RBM4B | exon_skip_241278 | -5.555992e-01 | 2.312120e-13 |
IFG | TARDBP | exon_skip_278480 | 4.904353e-01 | 9.399817e-03 |
IFG | SAMD4A | exon_skip_278480 | 4.532246e-01 | 1.758817e-02 |
IFG | RBM3 | exon_skip_278480 | -4.751283e-01 | 1.226253e-02 |
IFG | ILF2 | exon_skip_214027 | 4.287900e-01 | 2.563564e-02 |
TC | RBM4 | exon_skip_276183 | -4.827785e-01 | 3.935296e-10 |
TC | RBM4B | exon_skip_276183 | -4.473026e-01 | 9.550746e-09 |
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RelatedDrugs for LGMN |
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 LGMN |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |