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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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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 | 20180523 | |
| UniProtAcc | P36894 | |
| Context | PubMed: BMPR1A [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for BMPR1A from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for BMPR1A |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for BMPR1A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43543 | 10 | 88598695:88598736:88603162:88603267:88635623:88635842 | 88603162:88603267 | ENSG00000107779.7 | ENST00000480152.1 |
| exon_skip_43545 | 10 | 88598695:88598736:88635623:88635842:88649818:88649874 | 88635623:88635842 | ENSG00000107779.7 | ENST00000372037.3 |
| exon_skip_43548 | 10 | 88603162:88603267:88635623:88635842:88649818:88649874 | 88635623:88635842 | ENSG00000107779.7 | ENST00000480152.1 |
| exon_skip_43549 | 10 | 88635623:88635842:88649818:88649981:88651883:88651986 | 88649818:88649981 | ENSG00000107779.7 | ENST00000372037.3 |
| exon_skip_43553 | 10 | 88649818:88649981:88651883:88651986:88659550:88659647 | 88651883:88651986 | ENSG00000107779.7 | ENST00000372037.3 |
| exon_skip_43554 | 10 | 88659783:88659883:88671996:88672141:88676890:88677083 | 88671996:88672141 | ENSG00000107779.7 | ENST00000372037.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BMPR1A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_43543 | 10 | 88598695:88598736:88603162:88603267:88635623:88635842 | 88603162:88603267 | ENSG00000107779.7 | ENST00000480152.1 |
| exon_skip_43545 | 10 | 88598695:88598736:88635623:88635842:88649818:88649874 | 88635623:88635842 | ENSG00000107779.7 | ENST00000372037.3 |
| exon_skip_43548 | 10 | 88603162:88603267:88635623:88635842:88649818:88649874 | 88635623:88635842 | ENSG00000107779.7 | ENST00000480152.1 |
| exon_skip_43549 | 10 | 88635623:88635842:88649818:88649981:88651883:88651986 | 88649818:88649981 | ENSG00000107779.7 | ENST00000372037.3 |
| exon_skip_43553 | 10 | 88649818:88649981:88651883:88651986:88659550:88659647 | 88651883:88651986 | ENSG00000107779.7 | ENST00000372037.3 |
| exon_skip_43554 | 10 | 88659783:88659883:88671996:88672141:88676890:88677083 | 88671996:88672141 | ENSG00000107779.7 | ENST00000372037.3 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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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 TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000372037 | 88635623 | 88635842 | 5CDS-5UTR |
| ENST00000372037 | 88649818 | 88649981 | Frame-shift |
| ENST00000372037 | 88651883 | 88651986 | Frame-shift |
| ENST00000372037 | 88671996 | 88672141 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000372037 | 88635623 | 88635842 | 5CDS-5UTR |
| ENST00000372037 | 88649818 | 88649981 | Frame-shift |
| ENST00000372037 | 88651883 | 88651986 | Frame-shift |
| ENST00000372037 | 88671996 | 88672141 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BMPR1A |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 GTEx 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 TCGA. |
| 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 GTEx. |
| 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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SNVs in the skipped exons for BMPR1A |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_43549 | 88649819 | 88649981 | 88649922 | 88649922 | Frame_Shift_Del | T | - | p.P57fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_43549 | 88649819 | 88649981 | 88649922 | 88649922 | Frame_Shift_Del | T | - | p.P57fs |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_43549 | 88649819 | 88649981 | 88649922 | 88649922 | Frame_Shift_Del | T | - | p.P57fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_43554 | 88671997 | 88672141 | 88672121 | 88672121 | Frame_Shift_Del | G | - | p.G219fs |
| STAD | TCGA-CG-5733-01 | exon_skip_43553 | 88651884 | 88651986 | 88651973 | 88651974 | Frame_Shift_Ins | - | T | p.D107fs |
| STAD | TCGA-CG-5733-01 | exon_skip_43553 | 88651884 | 88651986 | 88651974 | 88651975 | Frame_Shift_Ins | - | T | p.D107fs |
| READ | TCGA-F5-6814-01 | exon_skip_43548 exon_skip_43545 | 88635624 | 88635842 | 88635844 | 88635844 | Splice_Site | T | C | . |
| UCEC | TCGA-D1-A103-01 | exon_skip_43554 | 88671997 | 88672141 | 88671996 | 88671996 | Splice_Site | G | T | e6-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F5-6814-01 |
| Cancer type: READ | |
| ESID: exon_skip_43545 | |
| Skipped exon start: 88635624 | |
| Skipped exon end: 88635842 | |
| Mutation start: 88635844 | |
| Mutation end: 88635844 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: . | |
exon_skip_104037_READ_TCGA-F5-6814-01.png | |
exon_skip_108731_READ_TCGA-F5-6814-01.png | |
exon_skip_111139_READ_TCGA-F5-6814-01.png | |
exon_skip_111141_READ_TCGA-F5-6814-01.png | |
exon_skip_134785_READ_TCGA-F5-6814-01.png | |
exon_skip_138676_READ_TCGA-F5-6814-01.png | |
exon_skip_141979_READ_TCGA-F5-6814-01.png | |
exon_skip_142361_READ_TCGA-F5-6814-01.png | |
exon_skip_142369_READ_TCGA-F5-6814-01.png | |
exon_skip_142374_READ_TCGA-F5-6814-01.png | |
exon_skip_145114_READ_TCGA-F5-6814-01.png | |
exon_skip_145115_READ_TCGA-F5-6814-01.png | |
exon_skip_153669_READ_TCGA-F5-6814-01.png | |
exon_skip_28270_READ_TCGA-F5-6814-01.png | |
exon_skip_290191_READ_TCGA-F5-6814-01.png | |
exon_skip_296525_READ_TCGA-F5-6814-01.png | |
exon_skip_358963_READ_TCGA-F5-6814-01.png | |
exon_skip_428765_READ_TCGA-F5-6814-01.png | |
exon_skip_43545_READ_TCGA-F5-6814-01.png | |
exon_skip_444150_READ_TCGA-F5-6814-01.png | |
exon_skip_479241_READ_TCGA-F5-6814-01.png | |
exon_skip_497224_READ_TCGA-F5-6814-01.png | |
| - 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 |
| CCK81_LARGE_INTESTINE | 88649819 | 88649981 | 88649922 | 88649922 | Frame_Shift_Del | T | - | p.P57fs |
| NCCSTCK140_STOMACH | 88635624 | 88635842 | 88635783 | 88635783 | Missense_Mutation | A | C | p.Q3P |
| CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 88635624 | 88635842 | 88635815 | 88635815 | Missense_Mutation | T | C | p.Y14H |
| HT115_LARGE_INTESTINE | 88649819 | 88649981 | 88649963 | 88649963 | Missense_Mutation | C | T | p.A71V |
| RKO_LARGE_INTESTINE | 88651884 | 88651986 | 88651972 | 88651972 | Missense_Mutation | G | A | p.D107N |
| NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 88651884 | 88651986 | 88651982 | 88651982 | Missense_Mutation | G | A | p.C110Y |
| HEC108_ENDOMETRIUM | 88671997 | 88672141 | 88672029 | 88672029 | Missense_Mutation | G | A | p.R188H |
| OVK18_OVARY | 88671997 | 88672141 | 88672029 | 88672029 | Missense_Mutation | G | A | p.R188H |
| CME1_SOFT_TISSUE | 88671997 | 88672141 | 88672035 | 88672035 | Missense_Mutation | A | G | p.N190S |
| COLO775_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 88671997 | 88672141 | 88672052 | 88672052 | Missense_Mutation | G | T | p.D196Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BMPR1A |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BMPR1A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BMPR1A |
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RelatedDrugs for BMPR1A |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P36894 | DB11639 | Dibotermin alfa | Bone morphogenetic protein receptor type-1A | biotech | approved|investigational |
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RelatedDiseases for BMPR1A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BMPR1A | C0345893 | Juvenile polyposis syndrome | 5 | CTD_human;ORPHANET;UNIPROT |
| BMPR1A | C0015393 | Eye Abnormalities | 1 | CTD_human |
| BMPR1A | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| BMPR1A | C1720887 | Female Urogenital Diseases | 1 | CTD_human |
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