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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:LRRFIP1-BMPR1B (FusionGDB2 ID:HG9208TG658)

Fusion Gene Summary for LRRFIP1-BMPR1B

check button Fusion gene summary
Fusion gene informationFusion gene name: LRRFIP1-BMPR1B
Fusion gene ID: hg9208tg658
HgeneTgene
Gene symbol

LRRFIP1

BMPR1B

Gene ID

9208

658

Gene nameLRR binding FLII interacting protein 1bone morphogenetic protein receptor type 1B
SynonymsFLAP-1|FLAP1|FLIIAP1|GCF-2|GCF2|HUFI-1|TRIPALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293
Cytomap('LRRFIP1')('BMPR1B')

2q37.3

4q22.3

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat flightless-interacting protein 1GC-binding factor 2LRR FLII-interacting protein 1NEDD8-conjugating enzymeTAR RNA-interacting proteinleucine rich repeat (in FLII) interacting protein 1bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase
Modification date2020031320200313
UniProtAcc.

O00238

Ensembl transtripts involved in fusion geneENST00000244815, ENST00000289175, 
ENST00000308482, ENST00000392000, 
ENST00000468950, 
Fusion gene scores* DoF score16 X 12 X 9=172812 X 12 X 4=576
# samples 2012
** MAII scorelog2(20/1728*10)=-3.11103131238874
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/576*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: LRRFIP1 [Title/Abstract] AND BMPR1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLRRFIP1(238673818)-BMPR1B(95728308), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneLRRFIP1

GO:0000122

negative regulation of transcription by RNA polymerase II

14522076

TgeneBMPR1B

GO:0006468

protein phosphorylation

12065756

TgeneBMPR1B

GO:0030509

BMP signaling pathway

18436533



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AEC572991LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+


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Fusion Gene ORF analysis for LRRFIP1-BMPR1B

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
3UTR-intronENST00000244815ENST00000264568LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000244815ENST00000394931LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000244815ENST00000440890LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000244815ENST00000502683LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000244815ENST00000515059LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000289175ENST00000264568LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000289175ENST00000394931LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000289175ENST00000440890LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000289175ENST00000502683LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
3UTR-intronENST00000289175ENST00000515059LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000308482ENST00000264568LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000308482ENST00000394931LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000308482ENST00000440890LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000308482ENST00000502683LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000308482ENST00000515059LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000392000ENST00000264568LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000392000ENST00000394931LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000392000ENST00000440890LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000392000ENST00000502683LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000392000ENST00000515059LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000468950ENST00000264568LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000468950ENST00000394931LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000468950ENST00000440890LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000468950ENST00000502683LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+
intron-intronENST00000468950ENST00000515059LRRFIP1chr2

238673818

-BMPR1Bchr4

95728308

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for LRRFIP1-BMPR1B


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for LRRFIP1-BMPR1B


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:238673818/:95728308)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

O00238

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction. {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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Fusion Gene Sequence for LRRFIP1-BMPR1B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for LRRFIP1-BMPR1B


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


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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Related Drugs for LRRFIP1-BMPR1B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneBMPR1BO00238DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for LRRFIP1-BMPR1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRRFIP1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC1832702BRACHYDACTYLY, TYPE A23CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4225404ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE3GENOMICS_ENGLAND;UNIPROT
TgeneC0005941Bone Diseases, Developmental1CTD_human
TgeneC0015393Eye Abnormalities1CTD_human
TgeneC0025322Premature Menopause1GENOMICS_ENGLAND
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0152171Idiopathic pulmonary hypertension1GENOMICS_ENGLAND
TgeneC0265260Chondrodysplasia, Grebe type1ORPHANET
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0376634Craniofacial Abnormalities1CTD_human
TgeneC1300268Brachydactyly syndrome type C1ORPHANET
TgeneC1836182Chondrodysplasia, acromesomelic, with genital anomalies1CTD_human
TgeneC1856738Fibular hypoplasia and complex brachydactyly1ORPHANET
TgeneC1862103Brachydactyly type C1ORPHANET
TgeneC1862151BRACHYDACTYLY, TYPE A1 (disorder)1ORPHANET
TgeneC2930970Acromesomelic dysplasia Hunter-Thompson type1CTD_human
TgeneC3203102Idiopathic pulmonary arterial hypertension1GENOMICS_ENGLAND
TgeneC4225183BRACHYDACTYLY, TYPE A1, D1CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC4317009Diverticular Diseases1CTD_human
TgeneC4505353Diverticular Bleeding1CTD_human