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Open reading frame (ORF) annotation in the exon skipping event | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon | |
Gene summary for BMPR1B |
Gene summary |
Gene information | Gene symbol | BMPR1B | Gene ID | 658 |
Gene name | bone morphogenetic protein receptor type 1B | |
Synonyms | ALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293 | |
Cytomap | 4q22.3 | |
Type of gene | protein-coding | |
Description | bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase | |
Modification date | 20180523 | |
UniProtAcc | O00238 | |
Context | PubMed: BMPR1B [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 |
BMPR1B | GO:0006468 | protein phosphorylation | 12065756 |
BMPR1B | GO:0030509 | BMP signaling pathway | 18436533 |
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Exon skipping events across known transcript of Ensembl for BMPR1B 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 BMPR1B |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for BMPR1B |
Information of exkip skipping event in TCGA. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_425122 | 4 | 95796981:95797051:95917190:95917285:96025558:96025718 | 95917190:95917285 | ENSG00000138696.6 | ENST00000515059.1 |
exon_skip_425231 | 4 | 96025558:96025718:96035870:96035973:96036835:96036938 | 96035870:96035973 | ENSG00000138696.6 | ENST00000506363.1,ENST00000440890.2,ENST00000512312.1,ENST00000515059.1,ENST00000509540.1,ENST00000264568.4,ENST00000394931.1 |
exon_skip_425232 | 4 | 96025558:96025718:96035870:96035978:96036835:96036938 | 96035870:96035978 | ENSG00000138696.6 | ENST00000502683.1 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BMPR1B |
Information of exkip skipping event in GTEx |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
exon_skip_425122 | 4 | 95796981:95797051:95917190:95917285:96025558:96025718 | 95917190:95917285 | ENSG00000138696.6 | ENST00000515059.1 |
exon_skip_425231 | 4 | 96025558:96025718:96035870:96035973:96036835:96036938 | 96035870:96035973 | ENSG00000138696.6 | ENST00000515059.1,ENST00000506363.1,ENST00000512312.1,ENST00000509540.1,ENST00000440890.2,ENST00000264568.4,ENST00000394931.1 |
exon_skip_425232 | 4 | 96025558:96025718:96035870:96035978:96036835:96036938 | 96035870:96035978 | ENSG00000138696.6 | ENST00000502683.1 |
PSI values of skipped exons in GTEx. |
* Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for BMPR1B |
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 |
ENST00000515059 | 95917190 | 95917285 | 5UTR-5UTR |
ENST00000264568 | 96035870 | 96035973 | Frame-shift |
ENST00000394931 | 96035870 | 96035973 | Frame-shift |
ENST00000515059 | 96035870 | 96035973 | 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 |
ENST00000515059 | 95917190 | 95917285 | 5UTR-5UTR |
ENST00000264568 | 96035870 | 96035973 | Frame-shift |
ENST00000394931 | 96035870 | 96035973 | Frame-shift |
ENST00000515059 | 96035870 | 96035973 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for BMPR1B |
Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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 BMPR1B |
- 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 |
COAD | TCGA-DM-A1DA-01 | exon_skip_425231 | 96035871 | 96035973 | 96035974 | 96035974 | Splice_Site | G | T | . |
- 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 |
SNU1040_LARGE_INTESTINE | 96035871 | 96035978 | 96035909 | 96035909 | Missense_Mutation | A | G | p.D61G |
SNU1040_LARGE_INTESTINE | 96035871 | 96035973 | 96035909 | 96035909 | Missense_Mutation | A | G | p.D61G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BMPR1B |
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 BMPR1B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BMPR1B |
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RelatedDrugs for BMPR1B |
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 |
O00238 | DB12010 | Fostamatinib | Bone morphogenetic protein receptor type-1B | small molecule | approved|investigational |
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RelatedDiseases for BMPR1B |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |
BMPR1B | C1832702 | BRACHYDACTYLY, TYPE A2 | 2 | CTD_human;HPO;ORPHANET;UNIPROT |
BMPR1B | C0005941 | Bone Diseases, Developmental | 1 | CTD_human |
BMPR1B | C0015393 | Eye Abnormalities | 1 | CTD_human |
BMPR1B | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
BMPR1B | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
BMPR1B | C1836182 | Chondrodysplasia, acromesomelic, with genital anomalies | 1 | CTD_human |
BMPR1B | C4225183 | BRACHYDACTYLY, TYPE A1, D | 1 | UNIPROT |
BMPR1B | C4225404 | ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE | 1 | UNIPROT |