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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: 8553

FusionGeneSummary for CRYBG3_MYBPC1

check button Fusion gene summary
Fusion gene informationFusion gene name: CRYBG3_MYBPC1
Fusion gene ID: 8553
HgeneTgene
Gene symbol

CRYBG3

MYBPC1

Gene ID

131544

4604

Gene namecrystallin beta-gamma domain containing 3myosin binding protein C, slow type
SynonymsDKFZp667G2110|vlAKAPLCCS4|MYBPCC|MYBPCS
Cytomap

3q11.2

12q23.2

Type of geneprotein-codingprotein-coding
Descriptionvery large A-kinase anchor proteinbeta-gamma crystallin domain containing 3beta/gamma crystallin domain-containing protein 3myosin-binding protein C, slow-typeC-protein, skeletal muscle slow isoformskeletal muscle C-proteinslow MyBP-C
Modification date2018051920180523
UniProtAcc

Q68DQ2

Q00872

Ensembl transtripts involved in fusion geneENST00000182096, ENST00000485253, 
ENST00000419587, ENST00000389622, 
ENST00000547405, ENST00000452455, 
ENST00000360610, ENST00000441232, 
ENST00000392934, ENST00000547509, 
ENST00000361685, ENST00000550501, 
ENST00000549145, ENST00000553190, 
ENST00000536007, ENST00000541119, 
ENST00000545503, ENST00000361466, 
ENST00000551300, ENST00000550270, 
Fusion gene scores* DoF score5 X 4 X 5=10010 X 6 X 6=360
# samples 59
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CRYBG3 [Title/Abstract] AND MYBPC1 [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
TCGALDHNSCTCGA-P3-A6T7-01ACRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
* 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
5CDS-intronENST00000182096ENST00000547405CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000452455CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000360610CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000441232CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000392934CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000547509CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000361685CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-3UTRENST00000182096ENST00000550501CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-3UTRENST00000182096ENST00000549145CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-3UTRENST00000182096ENST00000553190CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-3UTRENST00000182096ENST00000536007CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000541119CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000545503CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-intronENST00000182096ENST00000361466CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-5UTRENST00000182096ENST00000551300CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
5CDS-5UTRENST00000182096ENST00000550270CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000547405CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000452455CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000360610CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000441232CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000392934CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000547509CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000361685CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000485253ENST00000550501CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000485253ENST00000549145CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000485253ENST00000553190CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000485253ENST00000536007CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000541119CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000545503CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000485253ENST00000361466CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-5UTRENST00000485253ENST00000551300CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-5UTRENST00000485253ENST00000550270CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000547405CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000452455CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000360610CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000441232CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000392934CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000547509CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000361685CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000419587ENST00000550501CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000419587ENST00000549145CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000419587ENST00000553190CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000419587ENST00000536007CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000541119CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000545503CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000419587ENST00000361466CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-5UTRENST00000419587ENST00000551300CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-5UTRENST00000419587ENST00000550270CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000547405CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000452455CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000360610CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000441232CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000392934CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000547509CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000361685CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000389622ENST00000550501CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000389622ENST00000549145CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000389622ENST00000553190CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-3UTRENST00000389622ENST00000536007CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000541119CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000545503CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-intronENST00000389622ENST00000361466CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-5UTRENST00000389622ENST00000551300CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+
intron-5UTRENST00000389622ENST00000550270CRYBG3chr3

97619329

+MYBPC1chr12

102008274

+

Top

FusionProtFeatures for CRYBG3_MYBPC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CRYBG3

Q68DQ2

MYBPC1

Q00872


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


Top

FusionGeneSequence for CRYBG3_MYBPC1


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).

Top

FusionGenePPI for CRYBG3_MYBPC1


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
CRYBG3TSSK1B, MLF1, PRKAR2B, FGFR1OP, POC1A, SSH3, NPAS1MYBPC1USP25, CALM1, MEOX2, NCF1, TRIM63, TRIM55, RAF1, FHL1, FHL2, FHL3, TP53


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


Top

RelatedDrugs for CRYBG3_MYBPC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for CRYBG3_MYBPC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYBPC1C3280526ARTHROGRYPOSIS, DISTAL, TYPE 1B2UNIPROT