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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 BMPR2 |
 Gene summary |
| Gene information | Gene symbol | BMPR2 | Gene ID | 659 |
| Gene name | bone morphogenetic protein receptor type 2 | |
| Synonyms | BMPR-II|BMPR3|BMR2|BRK-3|POVD1|PPH1|T-ALK | |
| Cytomap | 2q33.1-q33.2 | |
| Type of gene | protein-coding | |
| Description | bone morphogenetic protein receptor type-2BMP type II receptorBMP type-2 receptorbone morphogenetic protein receptor type IIbone morphogenetic protein receptor, type II (serine/threonine kinase)type II activin receptor-like kinasetype II receptor fo | |
| Modification date | 20180527 | |
| UniProtAcc | Q13873 | |
| Context | PubMed: BMPR2 [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 |
| BMPR2 | GO:0007178 | transmembrane receptor protein serine/threonine kinase signaling pathway | 12045205 |
| BMPR2 | GO:0010634 | positive regulation of epithelial cell migration | 12819188 |
| BMPR2 | GO:0030308 | negative regulation of cell growth | 12819188 |
| BMPR2 | GO:0030509 | BMP signaling pathway | 18436533 |
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Exon skipping events across known transcript of Ensembl for BMPR2 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 BMPR2 |
| 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 BMPR2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332550 | 2 | 203329548:203329702:203332241:203332412:203378441:203378552 | 203332241:203332412 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332552 | 2 | 203332241:203332412:203378441:203378552:203379610:203379702 | 203378441:203378552 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332553 | 2 | 203379610:203379702:203383544:203383775:203384809:203384924 | 203383544:203383775 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332554 | 2 | 203383544:203383775:203384809:203384924:203395516:203395677 | 203384809:203384924 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332556 | 2 | 203395516:203395677:203397307:203397455:203407033:203407170 | 203397307:203397455 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332557 | 2 | 203397307:203397455:203407033:203407170:203417438:203417611 | 203407033:203407170 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332558 | 2 | 203417442:203417611:203419974:203421254:203424418:203432474 | 203419974:203421254 | ENSG00000204217.8 | ENST00000374580.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BMPR2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_332550 | 2 | 203329548:203329702:203332241:203332412:203378441:203378552 | 203332241:203332412 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332552 | 2 | 203332241:203332412:203378441:203378552:203379610:203379702 | 203378441:203378552 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332553 | 2 | 203379610:203379702:203383544:203383775:203384809:203384924 | 203383544:203383775 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332554 | 2 | 203383544:203383775:203384809:203384924:203395516:203395677 | 203384809:203384924 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332556 | 2 | 203395516:203395677:203397307:203397455:203407033:203407170 | 203397307:203397455 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332557 | 2 | 203397307:203397455:203407033:203407170:203417438:203417611 | 203407033:203407170 | ENSG00000204217.8 | ENST00000374580.4,ENST00000374574.2 |
| exon_skip_332558 | 2 | 203417442:203417611:203419974:203421254:203424418:203432474 | 203419974:203421254 | ENSG00000204217.8 | ENST00000374580.4 |
| 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 BMPR2 |
| 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 |
| ENST00000374580 | 203384809 | 203384924 | Frame-shift |
| ENST00000374580 | 203397307 | 203397455 | Frame-shift |
| ENST00000374580 | 203407033 | 203407170 | Frame-shift |
| ENST00000374580 | 203419974 | 203421254 | Frame-shift |
| ENST00000374580 | 203332241 | 203332412 | In-frame |
| ENST00000374580 | 203378441 | 203378552 | In-frame |
| ENST00000374580 | 203383544 | 203383775 | In-frame |
| 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 |
| ENST00000374580 | 203384809 | 203384924 | Frame-shift |
| ENST00000374580 | 203397307 | 203397455 | Frame-shift |
| ENST00000374580 | 203407033 | 203407170 | Frame-shift |
| ENST00000374580 | 203419974 | 203421254 | Frame-shift |
| ENST00000374580 | 203332241 | 203332412 | In-frame |
| ENST00000374580 | 203378441 | 203378552 | In-frame |
| ENST00000374580 | 203383544 | 203383775 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BMPR2 |
| 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 |
| ENST00000374580 | 11478 | 1038 | 203332241 | 203332412 | 787 | 957 | 82 | 139 |
| ENST00000374580 | 11478 | 1038 | 203378441 | 203378552 | 958 | 1068 | 139 | 176 |
| ENST00000374580 | 11478 | 1038 | 203383544 | 203383775 | 1161 | 1391 | 207 | 284 |
| 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 |
| ENST00000374580 | 11478 | 1038 | 203332241 | 203332412 | 787 | 957 | 82 | 139 |
| ENST00000374580 | 11478 | 1038 | 203378441 | 203378552 | 958 | 1068 | 139 | 176 |
| ENST00000374580 | 11478 | 1038 | 203383544 | 203383775 | 1161 | 1391 | 207 | 284 |
| 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 |
| Q13873 | 82 | 139 | 76 | 84 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 90 | 92 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 113 | 118 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 27 | 1038 | Chain | ID=PRO_0000024415;Note=Bone morphogenetic protein receptor type-2 |
| Q13873 | 82 | 139 | 60 | 84 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 94 | 117 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 99 | 116 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 118 | 123 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 82 | 139 | 126 | 126 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 82 | 139 | 123 | 125 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 82 | 82 | Natural variant | ID=VAR_033109;Note=In PPH1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12358323;Dbxref=dbSNP:rs1085307185,PMID:12358323 |
| Q13873 | 82 | 139 | 84 | 84 | Natural variant | ID=VAR_079590;Note=In PPH1%3B alters alternative splicing of BMPR2. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=dbSNP:rs1085307197,PMID:24936649,PMID:28507310 |
| Q13873 | 82 | 139 | 87 | 87 | Natural variant | ID=VAR_079591;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. H->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 82 | 139 | 92 | 92 | Natural variant | ID=VAR_079592;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. Q->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 82 | 139 | 109 | 109 | Natural variant | ID=VAR_079593;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 82 | 139 | 117 | 117 | Natural variant | ID=VAR_013671;Note=In PPH1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11015450;Dbxref=PMID:11015450 |
| Q13873 | 82 | 139 | 118 | 118 | Natural variant | ID=VAR_013672;Note=In PPH1. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10973254;Dbxref=dbSNP:rs137852743,PMID:10973254 |
| Q13873 | 82 | 139 | 123 | 123 | Natural variant | ID=VAR_013673;Note=In PPH1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11115378;Dbxref=dbSNP:rs137852750,PMID:11115378 |
| Q13873 | 82 | 139 | 123 | 123 | Natural variant | ID=VAR_013674;Note=In PPH1. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11115378;Dbxref=dbSNP:rs137852750,PMID:11115378 |
| Q13873 | 82 | 139 | 138 | 138 | Natural variant | ID=VAR_079594;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 82 | 139 | 27 | 150 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 82 | 139 | 105 | 109 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 139 | 176 | 27 | 1038 | Chain | ID=PRO_0000024415;Note=Bone morphogenetic protein receptor type-2 |
| Q13873 | 139 | 176 | 162 | 162 | Natural variant | ID=VAR_079595;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 139 | 176 | 27 | 150 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 139 | 176 | 172 | 1038 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 139 | 176 | 151 | 171 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 207 | 284 | 202 | 211 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 213 | 222 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 225 | 233 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 260 | 267 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 273 | 279 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 230 | 230 | Binding site | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.13 |
| Q13873 | 207 | 284 | 27 | 1038 | Chain | ID=PRO_0000024415;Note=Bone morphogenetic protein receptor type-2 |
| Q13873 | 207 | 284 | 203 | 504 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13873 | 207 | 284 | 234 | 236 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 237 | 247 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 218 | 1038 | Natural variant | ID=VAR_079596;Note=In PPH1%3B changed localization to the plasma membrane. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 207 | 284 | 224 | 224 | Natural variant | ID=VAR_013675;Note=E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11115378;Dbxref=dbSNP:rs754343081,PMID:11115378 |
| Q13873 | 207 | 284 | 248 | 248 | Natural variant | ID=VAR_079597;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 207 | 284 | 264 | 264 | Natural variant | ID=VAR_079598;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 207 | 284 | 209 | 217 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.13 |
| Q13873 | 207 | 284 | 280 | 282 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.13 |
| Q13873 | 207 | 284 | 172 | 1038 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q13873 | 82 | 139 | 76 | 84 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 90 | 92 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 113 | 118 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 27 | 1038 | Chain | ID=PRO_0000024415;Note=Bone morphogenetic protein receptor type-2 |
| Q13873 | 82 | 139 | 60 | 84 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 94 | 117 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 99 | 116 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 118 | 123 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:2HLQ,ECO:0000269|PubMed:17094948;Dbxref=PMID:17094948 |
| Q13873 | 82 | 139 | 110 | 110 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 82 | 139 | 126 | 126 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 82 | 139 | 123 | 125 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 82 | 139 | 82 | 82 | Natural variant | ID=VAR_033109;Note=In PPH1. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12358323;Dbxref=dbSNP:rs1085307185,PMID:12358323 |
| Q13873 | 82 | 139 | 84 | 84 | Natural variant | ID=VAR_079590;Note=In PPH1%3B alters alternative splicing of BMPR2. C->F;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=dbSNP:rs1085307197,PMID:24936649,PMID:28507310 |
| Q13873 | 82 | 139 | 87 | 87 | Natural variant | ID=VAR_079591;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. H->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 82 | 139 | 92 | 92 | Natural variant | ID=VAR_079592;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. Q->L;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 82 | 139 | 109 | 109 | Natural variant | ID=VAR_079593;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. Q->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 82 | 139 | 117 | 117 | Natural variant | ID=VAR_013671;Note=In PPH1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11015450;Dbxref=PMID:11015450 |
| Q13873 | 82 | 139 | 118 | 118 | Natural variant | ID=VAR_013672;Note=In PPH1. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10973254;Dbxref=dbSNP:rs137852743,PMID:10973254 |
| Q13873 | 82 | 139 | 123 | 123 | Natural variant | ID=VAR_013673;Note=In PPH1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11115378;Dbxref=dbSNP:rs137852750,PMID:11115378 |
| Q13873 | 82 | 139 | 123 | 123 | Natural variant | ID=VAR_013674;Note=In PPH1. C->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11115378;Dbxref=dbSNP:rs137852750,PMID:11115378 |
| Q13873 | 82 | 139 | 138 | 138 | Natural variant | ID=VAR_079594;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. P->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 82 | 139 | 27 | 150 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 82 | 139 | 105 | 109 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2HLQ |
| Q13873 | 139 | 176 | 27 | 1038 | Chain | ID=PRO_0000024415;Note=Bone morphogenetic protein receptor type-2 |
| Q13873 | 139 | 176 | 162 | 162 | Natural variant | ID=VAR_079595;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. A->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 139 | 176 | 27 | 150 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 139 | 176 | 172 | 1038 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 139 | 176 | 151 | 171 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q13873 | 207 | 284 | 202 | 211 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 213 | 222 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 225 | 233 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 260 | 267 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 273 | 279 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 230 | 230 | Binding site | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.13 |
| Q13873 | 207 | 284 | 27 | 1038 | Chain | ID=PRO_0000024415;Note=Bone morphogenetic protein receptor type-2 |
| Q13873 | 207 | 284 | 203 | 504 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| Q13873 | 207 | 284 | 234 | 236 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 237 | 247 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3G2F |
| Q13873 | 207 | 284 | 218 | 1038 | Natural variant | ID=VAR_079596;Note=In PPH1%3B changed localization to the plasma membrane. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 207 | 284 | 224 | 224 | Natural variant | ID=VAR_013675;Note=E->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11115378;Dbxref=dbSNP:rs754343081,PMID:11115378 |
| Q13873 | 207 | 284 | 248 | 248 | Natural variant | ID=VAR_079597;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28507310;Dbxref=PMID:28507310 |
| Q13873 | 207 | 284 | 264 | 264 | Natural variant | ID=VAR_079598;Note=In PPH1%3B unknown pathological significance%3B unchanged subcellular localization. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:24936649,ECO:0000269|PubMed:28507310;Dbxref=PMID:24936649,PMID:28507310 |
| Q13873 | 207 | 284 | 209 | 217 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.13 |
| Q13873 | 207 | 284 | 280 | 282 | Nucleotide binding | Note=ATP;Ontology_term=ECO:0000305;evidence=ECO:0000305|Ref.13 |
| Q13873 | 207 | 284 | 172 | 1038 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
Top |
SNVs in the skipped exons for BMPR2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| STAD | TCGA-F1-6874-01 | exon_skip_332550 | 203332242 | 203332412 | 203332384 | 203332384 | Frame_Shift_Del | T | - | p.N130fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_332552 | 203378442 | 203378552 | 203378485 | 203378485 | Frame_Shift_Del | T | - | p.A154fs |
| COAD | TCGA-A6-5665-01 | exon_skip_332553 | 203383545 | 203383775 | 203383610 | 203383610 | Frame_Shift_Del | A | - | p.V229fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_332553 | 203383545 | 203383775 | 203383617 | 203383617 | Frame_Shift_Del | T | - | p.V231fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_332553 | 203383545 | 203383775 | 203383696 | 203383696 | Frame_Shift_Del | C | - | p.A258fs |
| STAD | TCGA-CG-5723-01 | exon_skip_332554 | 203384810 | 203384924 | 203384859 | 203384859 | Frame_Shift_Del | C | - | p.S301fs |
| COAD | TCGA-AU-6004-01 | exon_skip_332556 | 203397308 | 203397455 | 203397430 | 203397431 | Frame_Shift_Del | TA | - | p.417_417del |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_332557 | 203407034 | 203407170 | 203407062 | 203407062 | Frame_Shift_Del | T | - | p.A435fs |
| COAD | TCGA-AD-6889-01 | exon_skip_332557 | 203407034 | 203407170 | 203407071 | 203407072 | Frame_Shift_Del | AG | - | p.438_438del |
| COAD | TCGA-D5-6930-01 | exon_skip_332557 | 203407034 | 203407170 | 203407080 | 203407080 | Frame_Shift_Del | A | - | p.G441fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_332557 | 203407034 | 203407170 | 203407121 | 203407121 | Frame_Shift_Del | G | - | p.R455fs |
| COAD | TCGA-AA-3492-01 | exon_skip_332558 | 203419975 | 203421254 | 203420002 | 203420002 | Frame_Shift_Del | A | - | p.P538fs |
| COAD | TCGA-AD-6889-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| COAD | TCGA-AU-6004-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| COAD | TCGA-AY-6197-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| COAD | TCGA-CM-6674-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| COAD | TCGA-F4-6570-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| COAD | TCGA-G4-6304-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| STAD | TCGA-HF-A5NB-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_332558 | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_332558 | 203419975 | 203421254 | 203420584 | 203420584 | Frame_Shift_Del | T | - | p.C732fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_332558 | 203419975 | 203421254 | 203420129 | 203420130 | Frame_Shift_Ins | - | A | p.E581fs |
| STAD | TCGA-B7-A5TI-01 | exon_skip_332558 | 203419975 | 203421254 | 203420622 | 203420623 | Frame_Shift_Ins | - | C | p.P745fs |
| COAD | TCGA-A6-5665-01 | exon_skip_332552 | 203378442 | 203378552 | 203378487 | 203378487 | Nonsense_Mutation | T | A | p.L155X |
| COAD | TCGA-G4-6586-01 | exon_skip_332553 | 203383545 | 203383775 | 203383554 | 203383554 | Nonsense_Mutation | C | T | p.R211X |
| COAD | TCGA-AA-3525-01 | exon_skip_332553 | 203383545 | 203383775 | 203383560 | 203383560 | Nonsense_Mutation | C | T | p.R213X |
| STAD | TCGA-BR-8081-01 | exon_skip_332553 | 203383545 | 203383775 | 203383560 | 203383560 | Nonsense_Mutation | C | T | p.R213* |
| STAD | TCGA-BR-8588-01 | exon_skip_332553 | 203383545 | 203383775 | 203383565 | 203383565 | Nonsense_Mutation | T | A | p.Y214* |
| STAD | TCGA-BR-8588-01 | exon_skip_332553 | 203383545 | 203383775 | 203383565 | 203383565 | Nonsense_Mutation | T | A | p.Y214X |
| COAD | TCGA-AD-6895-01 | exon_skip_332553 | 203383545 | 203383775 | 203383769 | 203383769 | Nonsense_Mutation | T | A | p.Y282X |
| STAD | TCGA-BR-7851-01 | exon_skip_332554 | 203384810 | 203384924 | 203384850 | 203384850 | Nonsense_Mutation | G | A | p.W298* |
| STAD | TCGA-BR-7851-01 | exon_skip_332554 | 203384810 | 203384924 | 203384850 | 203384850 | Nonsense_Mutation | G | A | p.W298X |
| STAD | TCGA-F1-6874-01 | exon_skip_332554 | 203384810 | 203384924 | 203384918 | 203384918 | Nonsense_Mutation | C | T | p.R321* |
| COAD | TCGA-G4-6588-01 | exon_skip_332556 | 203397308 | 203397455 | 203397347 | 203397347 | Nonsense_Mutation | G | T | p.G390X |
| STAD | TCGA-CG-4465-01 | exon_skip_332557 | 203407034 | 203407170 | 203407105 | 203407105 | Nonsense_Mutation | C | T | p.Q450* |
| STAD | TCGA-CG-4465-01 | exon_skip_332557 | 203407034 | 203407170 | 203407105 | 203407105 | Nonsense_Mutation | C | T | p.Q450X |
| COAD | TCGA-AA-3554-01 | exon_skip_332558 | 203419975 | 203421254 | 203420138 | 203420138 | Nonsense_Mutation | C | T | p.R584X |
| SKCM | TCGA-EB-A3Y7-01 | exon_skip_332558 | 203419975 | 203421254 | 203420145 | 203420145 | Nonsense_Mutation | C | A | p.S586* |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_332558 | 203419975 | 203421254 | 203420177 | 203420177 | Nonsense_Mutation | C | T | p.R597* |
| BLCA | TCGA-E7-A7PW-01 | exon_skip_332558 | 203419975 | 203421254 | 203420609 | 203420609 | Nonsense_Mutation | C | T | p.Q741* |
| COAD | TCGA-AD-5900-01 | exon_skip_332558 | 203419975 | 203421254 | 203421005 | 203421005 | Nonsense_Mutation | C | T | p.R873X |
| KIRC | TCGA-A3-3372-01 | exon_skip_332558 | 203419975 | 203421254 | 203421005 | 203421005 | Nonsense_Mutation | C | T | p.R873* |
| KIRC | TCGA-A3-3372-01 | exon_skip_332558 | 203419975 | 203421254 | 203421005 | 203421005 | Nonsense_Mutation | C | T | p.R873X |
| THYM | TCGA-ZB-A96K-01 | exon_skip_332558 | 203419975 | 203421254 | 203421008 | 203421008 | Nonsense_Mutation | G | T | p.E874X |
| LIHC | TCGA-DD-A3A9-01 | exon_skip_332550 | 203332242 | 203332412 | 203332240 | 203332240 | Splice_Site | A | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| SNU407_LARGE_INTESTINE | 203383545 | 203383775 | 203383628 | 203383628 | Frame_Shift_Del | A | - | p.A235fs |
| SNUC2A_LARGE_INTESTINE | 203383545 | 203383775 | 203383716 | 203383717 | Frame_Shift_Del | GA | - | p.E265fs |
| SNUC2B_LARGE_INTESTINE | 203383545 | 203383775 | 203383716 | 203383717 | Frame_Shift_Del | GA | - | p.E265fs |
| KM12_LARGE_INTESTINE | 203407034 | 203407170 | 203407124 | 203407124 | Frame_Shift_Del | A | - | p.E456fs |
| GP5D_LARGE_INTESTINE | 203419975 | 203421254 | 203420002 | 203420002 | Frame_Shift_Del | A | - | p.P538fs |
| MDAPCA2B_PROSTATE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| CCK81_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| CL34_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| CW2_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| GP5D_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| HCT116_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| KM12_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| LIM1215_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| LOVO_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| LS180_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| LS411N_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| NCIH630_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| OVK18_OVARY | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| RKO_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| RL952_ENDOMETRIUM | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| SNU407_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| GP2D_LARGE_INTESTINE | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 203419975 | 203421254 | 203420130 | 203420130 | Frame_Shift_Del | A | - | p.E581fs |
| SNGM_ENDOMETRIUM | 203419975 | 203421254 | 203420325 | 203420326 | Frame_Shift_Del | CA | - | p.A646fs |
| JVM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203420129 | 203420130 | Frame_Shift_Ins | - | A | p.E581fs |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203420129 | 203420130 | Frame_Shift_Ins | - | A | p.E581fs |
| NUGC4_STOMACH | 203419975 | 203421254 | 203420129 | 203420130 | Frame_Shift_Ins | - | A | p.E581fs |
| DIPG007_CENTRAL_NERVOUS_SYSTEM | 203419975 | 203421254 | 203420136 | 203420137 | Frame_Shift_Ins | - | C | p.R584fs |
| KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203332242 | 203332412 | 203332314 | 203332314 | Missense_Mutation | C | T | p.S107L |
| NCIH1339_LUNG | 203332242 | 203332412 | 203332323 | 203332323 | Missense_Mutation | A | G | p.N110S |
| KURAMOCHI_OVARY | 203332242 | 203332412 | 203332334 | 203332334 | Missense_Mutation | C | T | p.R114C |
| CL40_LARGE_INTESTINE | 203332242 | 203332412 | 203332341 | 203332341 | Missense_Mutation | G | A | p.C116Y |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203378442 | 203378552 | 203378460 | 203378460 | Missense_Mutation | A | T | p.N146I |
| CHLA266_SOFT_TISSUE | 203383545 | 203383775 | 203383646 | 203383646 | Missense_Mutation | C | G | p.I241M |
| HEC108_ENDOMETRIUM | 203383545 | 203383775 | 203383650 | 203383650 | Missense_Mutation | G | A | p.E243K |
| HEP3B217_LIVER | 203383545 | 203383775 | 203383666 | 203383666 | Missense_Mutation | G | C | p.R248T |
| HEC1A_ENDOMETRIUM | 203383545 | 203383775 | 203383698 | 203383698 | Missense_Mutation | C | T | p.R259C |
| HEC1_ENDOMETRIUM | 203383545 | 203383775 | 203383698 | 203383698 | Missense_Mutation | C | T | p.R259C |
| HUPT4_PANCREAS | 203383545 | 203383775 | 203383698 | 203383698 | Missense_Mutation | C | T | p.R259C |
| HEC1B_ENDOMETRIUM | 203383545 | 203383775 | 203383698 | 203383698 | Missense_Mutation | C | T | p.R259C |
| NCIH2030_LUNG | 203383545 | 203383775 | 203383699 | 203383699 | Missense_Mutation | G | T | p.R259L |
| HEC59_ENDOMETRIUM | 203383545 | 203383775 | 203383714 | 203383714 | Missense_Mutation | A | T | p.D264V |
| SNU175_LARGE_INTESTINE | 203383545 | 203383775 | 203383737 | 203383737 | Missense_Mutation | C | T | p.R272C |
| IGROV1_OVARY | 203383545 | 203383775 | 203383770 | 203383770 | Missense_Mutation | C | T | p.P283S |
| SNUC2B_LARGE_INTESTINE | 203397308 | 203397455 | 203397351 | 203397351 | Missense_Mutation | C | T | p.A391V |
| RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203420028 | 203420028 | Missense_Mutation | C | T | p.S547F |
| GP2D_LARGE_INTESTINE | 203419975 | 203421254 | 203420075 | 203420075 | Missense_Mutation | G | A | p.V563M |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 203419975 | 203421254 | 203420075 | 203420075 | Missense_Mutation | G | A | p.V563M |
| SNU81_LARGE_INTESTINE | 203419975 | 203421254 | 203420080 | 203420080 | Missense_Mutation | G | T | p.K564N |
| EN_ENDOMETRIUM | 203419975 | 203421254 | 203420084 | 203420084 | Missense_Mutation | A | G | p.I566V |
| AU565_BREAST | 203419975 | 203421254 | 203420120 | 203420120 | Missense_Mutation | A | G | p.T578A |
| SISO_CERVIX | 203419975 | 203421254 | 203420129 | 203420129 | Missense_Mutation | G | A | p.E581K |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203420129 | 203420129 | Missense_Mutation | G | A | p.E581K |
| GP5D_LARGE_INTESTINE | 203419975 | 203421254 | 203420168 | 203420168 | Missense_Mutation | G | A | p.A594T |
| MIAPACA2_PANCREAS | 203419975 | 203421254 | 203420192 | 203420192 | Missense_Mutation | G | A | p.E602K |
| LNCAPCLONEFGC_PROSTATE | 203419975 | 203421254 | 203420199 | 203420199 | Missense_Mutation | G | T | p.S604I |
| LNCAPCLONEFGC_PROSTATE | 203419975 | 203421254 | 203420205 | 203420205 | Missense_Mutation | C | T | p.T606I |
| KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203420310 | 203420310 | Missense_Mutation | A | G | p.H641R |
| NCIH1436_LUNG | 203419975 | 203421254 | 203420313 | 203420313 | Missense_Mutation | C | T | p.T642I |
| SNU283_LARGE_INTESTINE | 203419975 | 203421254 | 203420388 | 203420388 | Missense_Mutation | A | C | p.K667T |
| EN_ENDOMETRIUM | 203419975 | 203421254 | 203420429 | 203420429 | Missense_Mutation | T | G | p.S681A |
| 5637_URINARY_TRACT | 203419975 | 203421254 | 203420477 | 203420477 | Missense_Mutation | G | A | p.D697N |
| TOV21G_OVARY | 203419975 | 203421254 | 203420603 | 203420603 | Missense_Mutation | C | T | p.P739S |
| SNU81_LARGE_INTESTINE | 203419975 | 203421254 | 203420741 | 203420741 | Missense_Mutation | G | A | p.E785K |
| NCIH250_LUNG | 203419975 | 203421254 | 203420951 | 203420951 | Missense_Mutation | G | T | p.D855Y |
| LS411N_LARGE_INTESTINE | 203419975 | 203421254 | 203421023 | 203421023 | Missense_Mutation | C | T | p.H879Y |
| MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203421078 | 203421078 | Missense_Mutation | G | A | p.G897D |
| IGR39_SKIN | 203419975 | 203421254 | 203421119 | 203421119 | Missense_Mutation | T | G | p.S911A |
| IGR37_SKIN | 203419975 | 203421254 | 203421119 | 203421119 | Missense_Mutation | T | G | p.S911A |
| MDAMB361_BREAST | 203419975 | 203421254 | 203421167 | 203421167 | Missense_Mutation | C | T | p.P927S |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 203419975 | 203421254 | 203421230 | 203421230 | Missense_Mutation | G | A | p.V948I |
| HCT15_LARGE_INTESTINE | 203383545 | 203383775 | 203383554 | 203383554 | Nonsense_Mutation | C | T | p.R211* |
| HRT18_LARGE_INTESTINE | 203383545 | 203383775 | 203383554 | 203383554 | Nonsense_Mutation | C | T | p.R211* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BMPR2 |
| 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 |
| exon_skip_332558 | 2 | 203417442:203417611:203419974:203421254:203424418:203432474 | 203419974:203421254 | ENST00000374580.4 | BRCA | rs1061157 | chr2:203421199 | G/A | 1.51e-04 |
| exon_skip_332558 | 2 | 203417442:203417611:203419974:203421254:203424418:203432474 | 203419974:203421254 | ENST00000374580.4 | PRAD | rs1061157 | chr2:203421199 | G/A | 2.23e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BMPR2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BMPR2 |
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RelatedDrugs for BMPR2 |
| 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 |
| Q13873 | DB11639 | Dibotermin alfa | Bone morphogenetic protein receptor type-2 | biotech | approved|investigational | |
| Q13873 | DB12010 | Fostamatinib | Bone morphogenetic protein receptor type-2 | small molecule | approved|investigational |
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RelatedDiseases for BMPR2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| BMPR2 | C0020542 | Pulmonary Hypertension | 9 | CTD_human;HPO |
| BMPR2 | C3203102 | Idiopathic pulmonary arterial hypertension | 7 | HPO;UNIPROT |
| BMPR2 | C0206081 | Hyperandrogenism | 1 | CTD_human |
| BMPR2 | C0340543 | Familial primary pulmonary hypertension | 1 | CTD_human;ORPHANET |
| BMPR2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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