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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: 4243

FusionGeneSummary for BMP7_RBM38

check button Fusion gene summary
Fusion gene informationFusion gene name: BMP7_RBM38
Fusion gene ID: 4243
HgeneTgene
Gene symbol

BMP7

RBM38

Gene ID

655

55544

Gene namebone morphogenetic protein 7RNA binding motif protein 38
SynonymsOP-1HSRNASEB|RNPC1|SEB4B|SEB4D|dJ800J21.2
Cytomap

20q13.31

20q13.31

Type of geneprotein-codingprotein-coding
Descriptionbone morphogenetic protein 7osteogenic protein 1RNA-binding protein 38CLL-associated antigen KW-5RNA-binding region (RNP1, RRM) containing 1RNA-binding region-containing protein 1ssDNA-binding protein SEB4
Modification date2018052320180523
UniProtAcc

P18075

Q9H0Z9

Ensembl transtripts involved in fusion geneENST00000395863, ENST00000395864, 
ENST00000450594, ENST00000460817, 
ENST00000356208, ENST00000440234, 
ENST00000371219, 
Fusion gene scores* DoF score7 X 5 X 5=1752 X 2 X 2=8
# samples 72
** MAII scorelog2(7/175*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: BMP7 [Title/Abstract] AND RBM38 [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
HgeneBMP7

GO:0010628

positive regulation of gene expression

28124060

HgeneBMP7

GO:0010800

positive regulation of peptidyl-threonine phosphorylation

19736306

HgeneBMP7

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

9311995|16049014|17244894|19736306

HgeneBMP7

GO:0030501

positive regulation of bone mineralization

18436533

HgeneBMP7

GO:0030509

BMP signaling pathway

16049014|18436533

HgeneBMP7

GO:0034116

positive regulation of heterotypic cell-cell adhesion

15100360

HgeneBMP7

GO:0034504

protein localization to nucleus

17244894

HgeneBMP7

GO:0042326

negative regulation of phosphorylation

17244894

HgeneBMP7

GO:0043407

negative regulation of MAP kinase activity

17244894

HgeneBMP7

GO:0045665

negative regulation of neuron differentiation

16325379

HgeneBMP7

GO:0045669

positive regulation of osteoblast differentiation

18436533

HgeneBMP7

GO:0045786

negative regulation of cell cycle

11502704

HgeneBMP7

GO:0045839

negative regulation of mitotic nuclear division

17244894

HgeneBMP7

GO:0045892

negative regulation of transcription, DNA-templated

15100360|17244894

HgeneBMP7

GO:0045893

positive regulation of transcription, DNA-templated

14517293|15100360|16049014

HgeneBMP7

GO:0048762

mesenchymal cell differentiation

9693150

HgeneBMP7

GO:0048812

neuron projection morphogenesis

16325379

HgeneBMP7

GO:0060393

regulation of pathway-restricted SMAD protein phosphorylation

16049014

HgeneBMP7

GO:0060395

SMAD protein signal transduction

17244894

HgeneBMP7

GO:0060548

negative regulation of cell death

12631064

HgeneBMP7

GO:0070487

monocyte aggregation

15100360

HgeneBMP7

GO:0072125

negative regulation of glomerular mesangial cell proliferation

17244894

HgeneBMP7

GO:1900006

positive regulation of dendrite development

11580864

HgeneBMP7

GO:1900106

positive regulation of hyaluranon cable assembly

15100360

TgeneRBM38

GO:0043484

regulation of RNA splicing

19285943


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
TCGARVOVTCGA-24-2288-01ABMP7chr20

55749987

-RBM38chr20

55982599

+
* 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
Frame-shiftENST00000395863ENST00000356208BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000395863ENST00000440234BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000395863ENST00000371219BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000395864ENST00000356208BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000395864ENST00000440234BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000395864ENST00000371219BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000450594ENST00000356208BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000450594ENST00000440234BMP7chr20

55749987

-RBM38chr20

55982599

+
Frame-shiftENST00000450594ENST00000371219BMP7chr20

55749987

-RBM38chr20

55982599

+
5UTR-3CDSENST00000460817ENST00000356208BMP7chr20

55749987

-RBM38chr20

55982599

+
5UTR-3CDSENST00000460817ENST00000440234BMP7chr20

55749987

-RBM38chr20

55982599

+
5UTR-3CDSENST00000460817ENST00000371219BMP7chr20

55749987

-RBM38chr20

55982599

+

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FusionProtFeatures for BMP7_RBM38


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BMP7

P18075

RBM38

Q9H0Z9

Induces cartilage and bone formation. May be theosteoinductive factor responsible for the phenomenon of epithelialosteogenesis. Plays a role in calcium regulation and bonehomeostasis. RNA-binding protein that specifically bind the 3'-UTR ofCDKN1A transcripts, leading to maintain the stability of CDKN1Atranscripts, thereby acting as a mediator of the p53/TP53 familyto regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitortranscriptionally regulated by the p53/TP53 family to induce cellcycle arrest. Isoform 1, but not isoform 2, has the ability toinduce cell cycle arrest in G1 and maintain the stability ofCDKN1A transcripts induced by p53/TP53. Also acts as a mRNAsplicing factor. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Plays a rolein myogenic differentiation. {ECO:0000269|PubMed:17050675,ECO:0000269|PubMed:19285943}.

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 BMP7_RBM38


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 BMP7_RBM38


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
BMP7BMPR2, SOSTDC1, BMP7, NOG, ENG, BMPR1A, BMPR1B, ACVR1, ACVR2A, ACVR2B, SMAD1, SMAD3, ACTN4, KRTAP5-9, TRIM27, MTUS2, KRTAP10-7, KRTAP10-5, KRTAP10-8, KRTAP10-3, NOTCH2NL, TAZ, TRAC, ISLR, UBR1, VWA8, GSTCD, NPTX1, AMD1, CNTNAP3B, ICK, NAAA, OLFM4, PDCD10, STK26, GDF11, DKKL1, OLFM2, GNB2, BTBD1, SLAMF1, PPP2R5D, PTPRKRBM38RCHY1, MDM2, RBFOX2, RBM24, TMEM184A, CLASRP, PTCD3


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 BMP7_RBM38


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 BMP7_RBM38


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBMP7C0033578Prostatic Neoplasms2CTD_human
HgeneBMP7C0005974Bone Resorption1CTD_human
HgeneBMP7C0014175Endometriosis1CTD_human
HgeneBMP7C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneBMP7C0034069Pulmonary Fibrosis1CTD_human
HgeneBMP7C0038356Stomach Neoplasms1CTD_human
HgeneBMP7C0041696Unipolar Depression1PSYGENET
HgeneBMP7C1269683Major Depressive Disorder1PSYGENET