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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDiseases

Fusion gene ID: 4254

FusionGeneSummary for BMPR1B_PDLIM5

check button Fusion gene summary
Fusion gene informationFusion gene name: BMPR1B_PDLIM5
Fusion gene ID: 4254
HgeneTgene
Gene symbol

BMPR1B

PDLIM5

Gene ID

658

10611

Gene namebone morphogenetic protein receptor type 1BPDZ and LIM domain 5
SynonymsALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293ENH|ENH1|L9|LIM
Cytomap

4q22.3

4q22.3

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinasePDZ and LIM domain protein 5enigma homologenigma-like LIM domain proteinenigma-like PDZ and LIM domains protein
Modification date2018052320180522
UniProtAcc

O00238

Q96HC4

Ensembl transtripts involved in fusion geneENST00000515059, ENST00000440890, 
ENST00000264568, ENST00000394931, 
ENST00000502683, 
ENST00000450793, 
ENST00000538141, ENST00000380180, 
ENST00000318007, ENST00000437932, 
ENST00000317968, ENST00000542407, 
ENST00000508216, ENST00000514743, 
ENST00000380176, ENST00000359265, 
ENST00000512274, ENST00000504489, 
Fusion gene scores* DoF score5 X 4 X 4=809 X 12 X 5=540
# samples 612
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BMPR1B [Title/Abstract] AND PDLIM5 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBMPR1B

GO:0006468

protein phosphorylation

12065756

HgeneBMPR1B

GO:0030509

BMP signaling pathway

18436533


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPRADTCGA-HC-A4ZV-01ABMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
TCGARVPRADTCGA-EJ-7330-01ABMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000515059ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-3CDSENST00000515059ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-3CDSENST00000515059ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-3CDSENST00000515059ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-3CDSENST00000515059ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-3CDSENST00000515059ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000440890ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000440890ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000440890ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000440890ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000440890ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000440890ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000440890ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000440890ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000440890ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000440890ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000440890ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000440890ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000440890ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000264568ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000264568ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000264568ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000264568ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000264568ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000264568ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000264568ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000264568ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000264568ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000264568ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000264568ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000264568ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000264568ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000394931ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000394931ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000394931ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000394931ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000394931ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000394931ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000394931ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000394931ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000394931ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000394931ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000394931ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000394931ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000394931ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000502683ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000502683ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000502683ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000502683ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000502683ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-3CDSENST00000502683ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000502683ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000502683ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000502683ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000502683ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000502683ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000502683ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
intron-intronENST00000502683ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95444875

+
5UTR-intronENST00000515059ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-3UTRENST00000515059ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
5UTR-intronENST00000515059ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-3UTRENST00000440890ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000440890ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-3UTRENST00000264568ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000264568ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-3UTRENST00000394931ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000394931ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000450793BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000538141BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000380180BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000318007BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000437932BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000317968BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000542407BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000508216BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000514743BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-3UTRENST00000502683ENST00000380176BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000359265BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000512274BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+
intron-intronENST00000502683ENST00000504489BMPR1Bchr4

95679219

+PDLIM5chr4

95561427

+

Top

FusionProtFeatures for BMPR1B_PDLIM5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BMPR1B

O00238

PDLIM5

Q96HC4

On ligand binding, forms a receptor complex consistingof two type II and two type I transmembrane serine/threoninekinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMADtranscriptional regulators. Receptor for BMP7/OP-1 and GDF5.Positively regulates chondrocyte differentiation through GDF5interaction. {ECO:0000250|UniProtKB:P36898}. May play an important role in the heart development byscaffolding PKC to the Z-disk region. May play a role in theregulation of cardiomyocyte expansion. Overexpression promotes thedevelopment of heart hypertrophy. Contributes to the regulation ofdendritic spine morphogenesis in neurons. May restrainpostsynaptic growth of excitatory synapses (By similarity).{ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for BMPR1B_PDLIM5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

Top

FusionGenePPI for BMPR1B_PDLIM5


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
BMPR1BBMPR2, GDF5, GDF6, BMP7, BMP4, BMPR1A, BMPR1B, BMP2, SNX6, TRAF6, XIAP, TSC22D1, IGSF1, SMURF1, SMAD6, BAMBI, APP, PEG10, USP15, EVA1C, OTUB1, TPRA1PDLIM5TRIM39, CACNA1B, PRKCB, PRKCE, GFI1B, NDUFA7, SIN3A, ELMSAN1, DSTN, FN1, CALU, EIF4A3, METTL1, NPLOC4, PDE12, ANP32A, CBS, IPO11, PKM, PLIN3, SRP14, UBA2, RAD23B, TPD52, ZYX, COIL, CCDC136, KRT40, KRTAP10-7, SUZ12, RNF2, BMI1, SIRT6, ILK, METTL6, RWDD2B, SYT11, DNAJC8, MAP2K1, MAP2K2, ARFIP2, CAMK2G, NTRK1, BTRC, MED4, SSX2IP, CEP128, CEP19, XPO1, CDH1, PDLIM7, TULP3, PHF19, NFATC2IP, DENR, TPM2, EMILIN1, ATG14, G3BP1, BRCA1, TES


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for BMPR1B_PDLIM5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for BMPR1B_PDLIM5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMPR1BC1832702BRACHYDACTYLY, TYPE A22CTD_human;HPO;ORPHANET;UNIPROT
HgeneBMPR1BC0005941Bone Diseases, Developmental1CTD_human
HgeneBMPR1BC0015393Eye Abnormalities1CTD_human
HgeneBMPR1BC0033578Prostatic Neoplasms1CTD_human
HgeneBMPR1BC0376634Craniofacial Abnormalities1CTD_human
HgeneBMPR1BC1836182Chondrodysplasia, acromesomelic, with genital anomalies1CTD_human
HgeneBMPR1BC4225183BRACHYDACTYLY, TYPE A1, D1UNIPROT
HgeneBMPR1BC4225404ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE1UNIPROT
TgenePDLIM5C0005586Bipolar Disorder5PSYGENET
TgenePDLIM5C0036341Schizophrenia4PSYGENET
TgenePDLIM5C0041696Unipolar Depression4PSYGENET
TgenePDLIM5C1269683Major Depressive Disorder4PSYGENET
TgenePDLIM5C0151744Myocardial Ischemia1CTD_human
TgenePDLIM5C0221765Chronic schizophrenia1PSYGENET