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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 BMPR1A |
 Gene summary |
| Gene information | Gene symbol | BMPR1A | Gene ID | 657 |
| Gene name | bone morphogenetic protein receptor type 1A | |
| Synonyms | 10q23del|ACVRLK3|ALK3|CD292|SKR5 | |
| Cytomap | 10q23.2 | |
| Type of gene | protein-coding | |
| Description | bone morphogenetic protein receptor type-1AALK-3BMP type-1A receptorBMPR-1Aactivin A receptor, type II-like kinase 3activin receptor-like kinase 3bone morphogenetic protein receptor, type IAserine/threonine-protein kinase receptor R5 | |
| 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 |
| BMPR1A | GO:0006468 | protein phosphorylation | 12065756 |
| BMPR1A | GO:0010862 | positive regulation of pathway-restricted SMAD protein phosphorylation | 9389648|24904118 |
| BMPR1A | GO:0030509 | BMP signaling pathway | 9389648|18436533 |
| BMPR1A | GO:0060391 | positive regulation of SMAD protein signal transduction | 9389648 |
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Gene structures and expression levels for BMPR1A |
| 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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ENSG00000107779
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000638429.1 | BMPR1A-205:nonsense_mediated_decay:BMPR1A | 2.244867e+01 | 8.827360e-01 | 1.786231e-08 | 4.943151e-07 |
| TC | UP | ENST00000636056.1 | BMPR1A-204:nonsense_mediated_decay:BMPR1A | 2.581078e+02 | 9.043820e-01 | 1.267843e-03 | 1.184311e-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 BMPR1A |
| 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_118203 | chr10 | 86900027:86900126:86912240:86912384:86917134:86917326 | 86912240:86912384 |
| exon_skip_181328 | chr10 | 86890062:86890224:86892127:86892229:86899794:86899890 | 86892127:86892229 |
| exon_skip_198918 | chr10 | 86921520:86921695:86923376:86923506:86923594:86924641 | 86923376:86923506 |
| exon_skip_200853 | chr10 | 86899794:86899890:86900027:86900126:86912240:86912384 | 86900027:86900126 |
| exon_skip_270181 | chr10 | 86756851:86756919:86838865:86838979:86875867:86876085 | 86838865:86838979 |
| exon_skip_59598 | chr10 | 86838939:86838979:86843406:86843510:86875867:86876085 | 86843406:86843510 |
| exon_skip_82913 | chr10 | 86756650:86756919:86838865:86838979:86875867:86876085 | 86838865:86838979 |
| 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 BMPR1A |
| 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 |
| ENST00000372037 | 86838865 | 86838979 | 5UTR-5UTR |
| ENST00000372037 | 86923376 | 86923506 | Frame-shift |
| 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 |
| ENST00000372037 | 86838865 | 86838979 | 5UTR-5UTR |
| ENST00000372037 | 86892127 | 86892229 | Frame-shift |
| 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 |
| ENST00000372037 | 86838865 | 86838979 | 5UTR-5UTR |
| ENST00000372037 | 86892127 | 86892229 | Frame-shift |
| ENST00000372037 | 86900027 | 86900126 | Frame-shift |
| ENST00000372037 | 86912240 | 86912384 | Frame-shift |
| ENST00000372037 | 86923376 | 86923506 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BMPR1A |
p-ENSG00000107779_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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in BMPR1A |
| 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 BMPR1A |
| - 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 BMPR1A |
| 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 BMPR1A |
| 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 BMPR1A |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for BMPR1A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P36894 | approved|investigational | DB11639 | Dibotermin alfa | biotech | P36894 |
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RelatedDiseases for BMPR1A |
| 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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