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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 MLPH |
 Gene summary |
| Gene information | Gene symbol | MLPH | Gene ID | 79083 |
| Gene name | melanophilin | |
| Synonyms | SLAC2-A | |
| Cytomap | 2q37.3 | |
| Type of gene | protein-coding | |
| Description | melanophilinexophilin-3slp homolog lacking C2 domains asynaptotagmin-like protein 2a | |
| Modification date | 20200320 | |
| 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 MLPH |
| 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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ENSG00000115648
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| TC | UP | 2.615141e+01 | 1.225242e+00 | 2.521774e-11 | 2.619917e-09 |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000264605.8 | MLPH-201:protein_coding:MLPH | 1.029270e+00 | 1.639280e+00 | 1.579210e-03 | 7.572946e-03 |
| CB | UP | ENST00000409373.5 | MLPH-203:protein_coding:MLPH | 1.663501e+00 | 1.383841e+00 | 4.239044e-03 | 1.718648e-02 |
| TC | UP | ENST00000409373.5 | MLPH-203:protein_coding:MLPH | 4.368405e+00 | 3.147790e+00 | 7.737546e-08 | 4.927527e-06 |
| TC | UP | ENST00000264605.8 | MLPH-201:protein_coding:MLPH | 3.655276e+00 | 2.377141e+00 | 2.085256e-07 | 1.120905e-05 |
| TC | UP | ENST00000415753.5 | MLPH-205:protein_coding:MLPH | 1.113688e+00 | 2.444584e+00 | 3.343910e-06 | 1.081276e-04 |
| TC | UP | ENST00000468178.5 | MLPH-213:lncRNA:MLPH | 2.480484e+00 | 2.136236e+00 | 9.487293e-06 | 2.486727e-04 |
| TC | UP | ENST00000338530.8 | MLPH-202:protein_coding:MLPH | 5.232742e+00 | 1.953695e+00 | 4.529935e-04 | 5.323080e-03 |
| TC | UP | ENST00000464123.5 | MLPH-212:retained_intron:MLPH | 2.169913e+00 | 2.034391e+00 | 4.730087e-04 | 5.508397e-03 |
| TC | UP | ENST00000494110.5 | MLPH-222:retained_intron:MLPH | 1.229468e+00 | 1.532558e+00 | 1.174032e-03 | 1.118682e-02 |
| TC | UP | ENST00000477457.1 | MLPH-216:retained_intron:MLPH | 2.309810e+00 | 1.034147e+00 | 2.378675e-03 | 1.912064e-02 |
| TC | UP | ENST00000469619.5 | MLPH-214:retained_intron:MLPH | 8.059991e-01 | 1.413606e+00 | 5.223991e-03 | 3.465429e-02 |
| 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 MLPH |
| 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_14701 | chr2 | 237540348:237540533:237540802:237540957:237542567:237542659 | 237540802:237540957 |
| exon_skip_163036 | chr2 | 237540449:237540533:237540802:237540957:237542567:237542659 | 237540802:237540957 |
| exon_skip_232213 | chr2 | 237527435:237527516:237534564:237534647:237540348:237540446 | 237534564:237534647 |
| exon_skip_27673 | chr2 | 237518539:237518648:237519910:237520029:237525601:237525805 | 237519910:237520029 |
| exon_skip_6672 | chr2 | 237527377:237527516:237534564:237534647:237540348:237540533 | 237534564:237534647 |
| 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 MLPH |
| 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 |
| ENST00000264605 | 237519910 | 237520029 | In-frame |
| ENST00000264605 | 237534564 | 237534647 | In-frame |
| ENST00000264605 | 237540802 | 237540957 | 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 |
| ENST00000264605 | 237534564 | 237534647 | 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 |
| ENST00000264605 | 237519910 | 237520029 | In-frame |
| ENST00000264605 | 237534564 | 237534647 | In-frame |
| ENST00000264605 | 237540802 | 237540957 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MLPH |
p-ENSG00000115648_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 |
| ENST00000264605 | 3840 | 600 | 237519910 | 237520029 | 851 | 969 | 185 | 225 |
| ENST00000264605 | 3840 | 600 | 237534564 | 237534647 | 1316 | 1398 | 340 | 368 |
| ENST00000264605 | 3840 | 600 | 237540802 | 237540957 | 1586 | 1740 | 430 | 482 |
| 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 |
| ENST00000264605 | 3840 | 600 | 237534564 | 237534647 | 1316 | 1398 | 340 | 368 |
| 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 |
| ENST00000264605 | 3840 | 600 | 237519910 | 237520029 | 851 | 969 | 185 | 225 |
| ENST00000264605 | 3840 | 600 | 237534564 | 237534647 | 1316 | 1398 | 340 | 368 |
| ENST00000264605 | 3840 | 600 | 237540802 | 237540957 | 1586 | 1740 | 430 | 482 |
| 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 |
| Q9BV36 | 185 | 225 | 186 | 225 | Alternative sequence | ID=VSP_042158;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BV36 | 185 | 225 | 1 | 600 | Chain | ID=PRO_0000190222;Note=Melanophilin |
| Q9BV36 | 340 | 368 | 226 | 368 | Alternative sequence | ID=VSP_055730;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BV36 | 340 | 368 | 341 | 368 | Alternative sequence | ID=VSP_007554;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9BV36 | 340 | 368 | 1 | 600 | Chain | ID=PRO_0000190222;Note=Melanophilin |
| Q9BV36 | 340 | 368 | 347 | 347 | Natural variant | ID=VAR_015694;Note=H->R;Dbxref=dbSNP:rs2292884 |
| Q9BV36 | 430 | 482 | 430 | 481 | Alternative sequence | ID=VSP_042159;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BV36 | 430 | 482 | 1 | 600 | Chain | ID=PRO_0000190222;Note=Melanophilin |
| Q9BV36 | 430 | 482 | 373 | 496 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BV36 | 430 | 482 | 451 | 451 | Natural variant | ID=VAR_061754;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs58256353,PMID:14702039 |
| 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 |
| Q9BV36 | 340 | 368 | 226 | 368 | Alternative sequence | ID=VSP_055730;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BV36 | 340 | 368 | 341 | 368 | Alternative sequence | ID=VSP_007554;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9BV36 | 340 | 368 | 1 | 600 | Chain | ID=PRO_0000190222;Note=Melanophilin |
| Q9BV36 | 340 | 368 | 347 | 347 | Natural variant | ID=VAR_015694;Note=H->R;Dbxref=dbSNP:rs2292884 |
| 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 |
| Q9BV36 | 185 | 225 | 186 | 225 | Alternative sequence | ID=VSP_042158;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BV36 | 185 | 225 | 1 | 600 | Chain | ID=PRO_0000190222;Note=Melanophilin |
| Q9BV36 | 340 | 368 | 226 | 368 | Alternative sequence | ID=VSP_055730;Note=In isoform 5. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BV36 | 340 | 368 | 341 | 368 | Alternative sequence | ID=VSP_007554;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9BV36 | 340 | 368 | 1 | 600 | Chain | ID=PRO_0000190222;Note=Melanophilin |
| Q9BV36 | 340 | 368 | 347 | 347 | Natural variant | ID=VAR_015694;Note=H->R;Dbxref=dbSNP:rs2292884 |
| Q9BV36 | 430 | 482 | 430 | 481 | Alternative sequence | ID=VSP_042159;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9BV36 | 430 | 482 | 1 | 600 | Chain | ID=PRO_0000190222;Note=Melanophilin |
| Q9BV36 | 430 | 482 | 373 | 496 | Coiled coil | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BV36 | 430 | 482 | 451 | 451 | Natural variant | ID=VAR_061754;Note=P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:14702039;Dbxref=dbSNP:rs58256353,PMID:14702039 |
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3'-UTR located exon skipping events that lost miRNA binding sites in MLPH |
| 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 MLPH |
| - 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 MLPH |
| 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 MLPH |
| 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 MLPH |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for MLPH |
| 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 MLPH |
| 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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