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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: 31522

FusionGeneSummary for RNF213_MYH6

check button Fusion gene summary
Fusion gene informationFusion gene name: RNF213_MYH6
Fusion gene ID: 31522
HgeneTgene
Gene symbol

RNF213

MYH6

Gene ID

57674

4624

Gene namering finger protein 213myosin heavy chain 6
SynonymsALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57ASD3|CMD1EE|CMH14|MYHC|MYHCA|SSS3|alpha-MHC
Cytomap

17q25.3

14q11.2

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterinmyosin-6myHC-alphamyosin heavy chain, cardiac muscle alpha isoformmyosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)
Modification date2018052720180519
UniProtAcc

Q63HN8

P13533

Ensembl transtripts involved in fusion geneENST00000508628, ENST00000456466, 
ENST00000582970, ENST00000319921, 
ENST00000336301, ENST00000427003, 
ENST00000405093, ENST00000356287, 
Fusion gene scores* DoF score22 X 22 X 12=58084 X 4 X 4=64
# samples 304
** MAII scorelog2(30/5808*10)=-4.27500704749987
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RNF213 [Title/Abstract] AND MYH6 [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
HgeneRNF213

GO:0016567

protein ubiquitination

21799892

HgeneRNF213

GO:0051260

protein homooligomerization

24658080|26126547

HgeneRNF213

GO:0051865

protein autoubiquitination

21799892

TgeneMYH6

GO:0002026

regulation of the force of heart contraction

15621050

TgeneMYH6

GO:0002027

regulation of heart rate

15621050

TgeneMYH6

GO:0006936

muscle contraction

15621050

TgeneMYH6

GO:0046034

ATP metabolic process

15621050


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
TCGARVUCECTCGA-AX-A3FX-01ARNF213chr17

78346534

+MYH6chr14

23851771

-
* 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-shitENST00000508628ENST00000405093RNF213chr17

78346534

+MYH6chr14

23851771

-
Frame-shitENST00000508628ENST00000356287RNF213chr17

78346534

+MYH6chr14

23851771

-
intron-3CDSENST00000456466ENST00000405093RNF213chr17

78346534

+MYH6chr14

23851771

-
intron-3CDSENST00000456466ENST00000356287RNF213chr17

78346534

+MYH6chr14

23851771

-
Frame-shitENST00000582970ENST00000405093RNF213chr17

78346534

+MYH6chr14

23851771

-
Frame-shitENST00000582970ENST00000356287RNF213chr17

78346534

+MYH6chr14

23851771

-
intron-3CDSENST00000319921ENST00000405093RNF213chr17

78346534

+MYH6chr14

23851771

-
intron-3CDSENST00000319921ENST00000356287RNF213chr17

78346534

+MYH6chr14

23851771

-
Frame-shitENST00000336301ENST00000405093RNF213chr17

78346534

+MYH6chr14

23851771

-
Frame-shitENST00000336301ENST00000356287RNF213chr17

78346534

+MYH6chr14

23851771

-
intron-3CDSENST00000427003ENST00000405093RNF213chr17

78346534

+MYH6chr14

23851771

-
intron-3CDSENST00000427003ENST00000356287RNF213chr17

78346534

+MYH6chr14

23851771

-

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FusionProtFeatures for RNF213_MYH6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RNF213

Q63HN8

MYH6

P13533

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 RNF213_MYH6


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 RNF213_MYH6


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
RNF213UBC, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLDMYH6ACTN2, TNNI1, TPM1, TPM2, HSPB2, HMGN1, MBP, SORT1, TMEM132A, NSF, MAP2K3, TCEB1, TMSB4X, UMPS, MCM3AP, TRIP11, VPRBP, MYBBP1A, COPE, USP24, BRD1, EDRF1, BDP1, DOCK6, FBXO31, PIGS, SPTY2D1, SPICE1, ITPRIPL2, MCM2, OPTN, BAG3, HIF1A


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 RNF213_MYH6


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 RNF213_MYH6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRNF213C1846689MOYAMOYA DISEASE 23UNIPROT
TgeneMYH6C2750467Cardiomyopathy, Familial Hypertrophic, 142CTD_human;UNIPROT
TgeneMYH6C0007193Cardiomyopathy, Dilated1CTD_human;HPO
TgeneMYH6C0007194Hypertrophic Cardiomyopathy1CTD_human;HPO
TgeneMYH6C0018817Atrial Septal Defects1CTD_human
TgeneMYH6C0037052Sick Sinus Syndrome1CTD_human;ORPHANET
TgeneMYH6C0949658Cardiomyopathy, Hypertrophic, Familial1CTD_human
TgeneMYH6C2750466Cardiomyopathy, Dilated, 1EE1CTD_human;UNIPROT
TgeneMYH6C3279790Atrial Septal Defect 31UNIPROT
TgeneMYH6C3279791SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO1UNIPROT