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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:RUNX1-BMPR1B (FusionGDB2 ID:78643)

Fusion Gene Summary for RUNX1-BMPR1B

check button Fusion gene summary
Fusion gene informationFusion gene name: RUNX1-BMPR1B
Fusion gene ID: 78643
HgeneTgene
Gene symbol

RUNX1

BMPR1B

Gene ID

861

658

Gene nameRUNX family transcription factor 1bone morphogenetic protein receptor type 1B
SynonymsAML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alphaALK-6|ALK6|AMDD|BDA1D|BDA2|CDw293
Cytomap

21q22.12

4q22.3

Type of geneprotein-codingprotein-coding
Descriptionrunt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2bone morphogenetic protein receptor type-1BBMP type-1B receptorBMPR-1Bactivin receptor-like kinase 6bone morphogenetic protein receptor, type IBserine/threonine receptor kinase
Modification date2020032220200313
UniProtAcc.

O00238

Ensembl transtripts involved in fusion geneENST00000300305, ENST00000325074, 
ENST00000344691, ENST00000358356, 
ENST00000399240, ENST00000437180, 
ENST00000486278, ENST00000494829, 
ENST00000264568, ENST00000394931, 
ENST00000440890, ENST00000502683, 
ENST00000515059, 
Fusion gene scores* DoF score46 X 68 X 13=4066412 X 12 X 4=576
# samples 8912
** MAII scorelog2(89/40664*10)=-5.51380298959468
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: RUNX1 [Title/Abstract] AND BMPR1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRUNX1(36285941)-BMPR1B(95732914), # 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
HgeneRUNX1

GO:0030097

hemopoiesis

21873977

HgeneRUNX1

GO:0045893

positive regulation of transcription, DNA-templated

10207087|14970218

HgeneRUNX1

GO:0045944

positive regulation of transcription by RNA polymerase II

9199349|10207087|14970218|21873977

TgeneBMPR1B

GO:0006468

protein phosphorylation

12065756

TgeneBMPR1B

GO:0030509

BMP signaling pathway

18436533


check buttonFusion gene breakpoints across RUNX1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across BMPR1B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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/ADQ207770RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+


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Fusion Gene ORF analysis for RUNX1-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
intron-intronENST00000300305ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000300305ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000300305ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000300305ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000300305ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000325074ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000325074ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000325074ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000325074ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000325074ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000344691ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000344691ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000344691ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000344691ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000344691ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000358356ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000358356ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000358356ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000358356ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000358356ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000399240ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000399240ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000399240ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000399240ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000399240ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000437180ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000437180ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000437180ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000437180ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000437180ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000486278ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000486278ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000486278ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000486278ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000486278ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000494829ENST00000264568RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000494829ENST00000394931RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000494829ENST00000440890RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000494829ENST00000502683RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+
intron-intronENST00000494829ENST00000515059RUNX1chr21

36285941

-BMPR1Bchr4

95732914

+

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 RUNX1-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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for RUNX1-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/:36285941/:95732914)
- 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 RUNX1-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 RUNX1-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 RUNX1-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

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Related Diseases for RUNX1-BMPR1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource