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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: 32040

FusionGeneSummary for RPRD2_MYH11

check button Fusion gene summary
Fusion gene informationFusion gene name: RPRD2_MYH11
Fusion gene ID: 32040
HgeneTgene
Gene symbol

RPRD2

MYH11

Gene ID

23248

4629

Gene nameregulation of nuclear pre-mRNA domain containing 2myosin heavy chain 11
SynonymsHSPC099|KIAA0460AAT4|FAA4|SMHC|SMMHC
Cytomap

1q21.2

16p13.11

Type of geneprotein-codingprotein-coding
Descriptionregulation of nuclear pre-mRNA domain-containing protein 2myosin-11myosin heavy chain, smooth muscle isoformmyosin, heavy chain 11, smooth musclemyosin, heavy polypeptide 11, smooth muscle
Modification date2018051920180519
UniProtAcc

Q5VT52

P35749

Ensembl transtripts involved in fusion geneENST00000492220, ENST00000401000, 
ENST00000539519, ENST00000369067, 
ENST00000369068, 
ENST00000396324, 
ENST00000452625, ENST00000576790, 
ENST00000300036, ENST00000573908, 
Fusion gene scores* DoF score9 X 7 X 7=44111 X 15 X 6=990
# samples 1021
** MAII scorelog2(10/441*10)=-2.1407786557828
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/990*10)=-2.23703919730085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RPRD2 [Title/Abstract] AND MYH11 [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

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
ChiTaRS3.1BE827752RPRD2chr1

150437089

-MYH11chr16

15876254

+
* 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
3UTR-3CDSENST00000492220ENST00000396324RPRD2chr1

150437089

-MYH11chr16

15876254

+
3UTR-3CDSENST00000492220ENST00000452625RPRD2chr1

150437089

-MYH11chr16

15876254

+
3UTR-3CDSENST00000492220ENST00000576790RPRD2chr1

150437089

-MYH11chr16

15876254

+
3UTR-3CDSENST00000492220ENST00000300036RPRD2chr1

150437089

-MYH11chr16

15876254

+
3UTR-intronENST00000492220ENST00000573908RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000401000ENST00000396324RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000401000ENST00000452625RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000401000ENST00000576790RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000401000ENST00000300036RPRD2chr1

150437089

-MYH11chr16

15876254

+
5CDS-intronENST00000401000ENST00000573908RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000539519ENST00000396324RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000539519ENST00000452625RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000539519ENST00000576790RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000539519ENST00000300036RPRD2chr1

150437089

-MYH11chr16

15876254

+
5CDS-intronENST00000539519ENST00000573908RPRD2chr1

150437089

-MYH11chr16

15876254

+
intron-3CDSENST00000369067ENST00000396324RPRD2chr1

150437089

-MYH11chr16

15876254

+
intron-3CDSENST00000369067ENST00000452625RPRD2chr1

150437089

-MYH11chr16

15876254

+
intron-3CDSENST00000369067ENST00000576790RPRD2chr1

150437089

-MYH11chr16

15876254

+
intron-3CDSENST00000369067ENST00000300036RPRD2chr1

150437089

-MYH11chr16

15876254

+
intron-intronENST00000369067ENST00000573908RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000369068ENST00000396324RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000369068ENST00000452625RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000369068ENST00000576790RPRD2chr1

150437089

-MYH11chr16

15876254

+
Frame-shitENST00000369068ENST00000300036RPRD2chr1

150437089

-MYH11chr16

15876254

+
5CDS-intronENST00000369068ENST00000573908RPRD2chr1

150437089

-MYH11chr16

15876254

+

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FusionProtFeatures for RPRD2_MYH11


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RPRD2

Q5VT52

MYH11

P35749

Muscle contraction.

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 RPRD2_MYH11


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 RPRD2_MYH11


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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RelatedDrugs for RPRD2_MYH11


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 RPRD2_MYH11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYH11C0023467Leukemia, Myelocytic, Acute2CTD_human
TgeneMYH11C0023479Acute myelomonocytic leukemia1CTD_human;ORPHANET
TgeneMYH11C1851504Aortic aneurysm, familial thoracic 41CTD_human;UNIPROT