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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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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4251

FusionGeneSummary for BMPR1B_ETV1

check button Fusion gene summary
Fusion gene informationFusion gene name: BMPR1B_ETV1
Fusion gene ID: 4251
HgeneTgene
Gene symbol

BMPR1B

ETV1

Gene ID

658

2115

Gene namebone morphogenetic protein receptor type 1BETS variant 1
SynonymsALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293ER81
Cytomap

4q22.3

7p21.2

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 kinaseETS translocation variant 1ets variant gene 1ets-related protein 81
Modification date2018052320180523
UniProtAcc

O00238

P50549

Ensembl transtripts involved in fusion geneENST00000515059, ENST00000440890, 
ENST00000264568, ENST00000394931, 
ENST00000502683, 
ENST00000430479, 
ENST00000399357, ENST00000420159, 
ENST00000343495, ENST00000242066, 
ENST00000405192, ENST00000405358, 
ENST00000403527, ENST00000405218, 
ENST00000403685, ENST00000476720, 
Fusion gene scores* DoF score5 X 4 X 4=8011 X 14 X 3=462
# samples 627
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/462*10)=-0.774933444365227
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BMPR1B [Title/Abstract] AND ETV1 [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

TgeneETV1

GO:0045944

positive regulation of transcription by RNA polymerase II

12750007


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-SU-A7E7-01ABMPR1Bchr4

95679219

+ETV1chr7

14028764

-
* 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-5UTRENST00000515059ENST00000430479BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-intronENST00000515059ENST00000399357BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-intronENST00000515059ENST00000420159BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-5UTRENST00000515059ENST00000343495BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-5UTRENST00000515059ENST00000242066BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-5UTRENST00000515059ENST00000405192BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-intronENST00000515059ENST00000405358BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-intronENST00000515059ENST00000403527BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-5UTRENST00000515059ENST00000405218BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-5UTRENST00000515059ENST00000403685BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
5UTR-intronENST00000515059ENST00000476720BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000440890ENST00000430479BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000440890ENST00000399357BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000440890ENST00000420159BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000440890ENST00000343495BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000440890ENST00000242066BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000440890ENST00000405192BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000440890ENST00000405358BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000440890ENST00000403527BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000440890ENST00000405218BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000440890ENST00000403685BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000440890ENST00000476720BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000264568ENST00000430479BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000264568ENST00000399357BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000264568ENST00000420159BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000264568ENST00000343495BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000264568ENST00000242066BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000264568ENST00000405192BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000264568ENST00000405358BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000264568ENST00000403527BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000264568ENST00000405218BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000264568ENST00000403685BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000264568ENST00000476720BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000394931ENST00000430479BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000394931ENST00000399357BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000394931ENST00000420159BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000394931ENST00000343495BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000394931ENST00000242066BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000394931ENST00000405192BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000394931ENST00000405358BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000394931ENST00000403527BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000394931ENST00000405218BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000394931ENST00000403685BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000394931ENST00000476720BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000502683ENST00000430479BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000502683ENST00000399357BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000502683ENST00000420159BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000502683ENST00000343495BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000502683ENST00000242066BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000502683ENST00000405192BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000502683ENST00000405358BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000502683ENST00000403527BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000502683ENST00000405218BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-5UTRENST00000502683ENST00000403685BMPR1Bchr4

95679219

+ETV1chr7

14028764

-
intron-intronENST00000502683ENST00000476720BMPR1Bchr4

95679219

+ETV1chr7

14028764

-

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FusionProtFeatures for BMPR1B_ETV1


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

O00238

ETV1

P50549

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}.

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


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FusionGeneSequence for BMPR1B_ETV1


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).

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FusionGenePPI for BMPR1B_ETV1


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, TPRA1ETV1SPI1, MAPK8, MAPK3, MAPK14, MAPKAPK2, EP300, KAT2B, RFWD2, RPS6KA5, NSMCE2, CCND3, NCOA3, NCOA2, JUN, UBE2I, STK40, DET1, TP53, TERT, ATR


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_ETV1


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_ETV1


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
TgeneETV1C0033578Prostatic Neoplasms2CTD_human