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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: 22948

FusionGeneSummary for MYBPC2_DES

check button Fusion gene summary
Fusion gene informationFusion gene name: MYBPC2_DES
Fusion gene ID: 22948
HgeneTgene
Gene symbol

MYBPC2

DES

Gene ID

4606

1674

Gene namemyosin binding protein C, fast typedesmin
SynonymsMYBPC|MYBPCFCDCD3|CMD1F|CSM1|CSM2|LGMD1D|LGMD1E|LGMD2R
Cytomap

19q13.33

2q35

Type of geneprotein-codingprotein-coding
Descriptionmyosin-binding protein C, fast-typeC-protein, skeletal muscle fast isoformfast MyBP-Cfast-type muscle myosin-binding-protein Ctesticular tissue protein Li 126desmincardiomyopathy, dilated 1F (autosomal dominant)intermediate filament proteinmutant desmin p.K241E
Modification date2018052320180522
UniProtAcc

Q14324

P17661

Ensembl transtripts involved in fusion geneENST00000357701, ENST00000373960, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 5 X 2=40
# samples 35
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MYBPC2 [Title/Abstract] AND DES [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-CV-5971-01AMYBPC2chr19

50955260

+DESchr2

220286062

+
* 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
In-frameENST00000357701ENST00000373960MYBPC2chr19

50955260

+DESchr2

220286062

+

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FusionProtFeatures for MYBPC2_DES


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYBPC2

Q14324

DES

P17661

Thick filament-associated protein located in thecrossbridge region of vertebrate striated muscle a bands. In vitroit binds MHC, F-actin and native thin filaments, and modifies theactivity of actin-activated myosin ATPase. It may modulate musclecontraction or may play a more structural role.

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
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628255_3445831142DomainNote=Ig-like C2-type 2
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628345_4375831142DomainNote=Ig-like C2-type 3
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628438_5385831142DomainNote=Ig-like C2-type 4
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+162850_1535831142DomainNote=Ig-like C2-type 1
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49413_470341471RegionNote=Tail

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+16281048_11415831142DomainNote=Ig-like C2-type 7
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628539_6385831142DomainNote=Ig-like C2-type 5
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628641_7375831142DomainFibronectin type-III 1
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628739_8345831142DomainFibronectin type-III 2
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628838_9325831142DomainNote=Ig-like C2-type 6
HgeneMYBPC2chr19:50955260chr2:220286062ENST00000357701+1628935_10305831142DomainFibronectin type-III 3
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49108_416341471DomainIF rod
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49109_141341471RegionNote=Coil 1A
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49142_151341471RegionNote=Linker 1
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49152_252341471RegionNote=Coil 1B
TgeneDESchr19:50955260chr2:220286062ENST00000373960+491_108341471RegionNote=Head
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49253_268341471RegionNote=Linker 12
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49269_287341471RegionNote=Coil 2A
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49288_295341471RegionNote=Linker 2
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49296_412341471RegionNote=Coil 2B


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FusionGeneSequence for MYBPC2_DES


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.
>In-frame_MYBPC2_ENST00000357701_chr19_50955260_+_DES_ENST00000373960_chr2_220286062_+_713aa
MPEAKPAAKKAPKGKDAPKGAPKEAPPKEAPAEAPKEAPPEDQSPTAEEPTGVFLKKPDSVSVETGKDAVVVAKVNGKELPDKPTIKWFK
GKWLELGSKSGARFSFKESHNSASNVYTVELHIGKVVLGDRGYYRLEVKAKDTCDSCGFNIDVEAPRQDASGQSLESFKRTSEKKSDTAG
ELDFSGLLKKREVVEEEKKKKKKDDDDLGIPPEIWELLKGAKKSEYEKIAFQYGITDLRGMLKRLKKAKVEVKKSAAFTKKLDPAYQVDR
GNKIKLMVEISDPDLTLKWFKNGQEIKPSSKYVFENVGKKRILTINKCTLADDAAYEVAVKDEKCFTELFVKEPPVLIVTPLEDQQVFVG
DRVEMAVEVSEEGAQVMWMKDGVELTREDSFKARYRFKKDGKRHILIFSDVVQEDRGRYQVITNGGQCEAELIVEEKQLEVLQDIADLTV
KASEQAVFKCEVSDEKVTGKWYKNGVEVRPSKRITISHVGRFHKLVIDDVRPEDEGDYTFVPDGYALSLSAKLNFLEIKVEYVPKQEPPK
IHLDCSGKTSENAIVVVAGNKLRLDVSITGEPPPVATWLKGDENDSLMRQMRELEDRFASEASGYQDNIARLEEEIRHLKDEMARHLREY


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MYBPC2_ENST00000357701_chr19_50955260_+_DES_ENST00000373960_chr2_220286062_+_2139nt
ATGCCTGAGGCAAAACCAGCGGCCAAAAAGGCCCCCAAAGGCAAAGATGCCCCCAAAGGAGCCCCCAAGGAGGCTCCCCCTAAGGAGGCT
CCTGCAGAGGCCCCCAAAGAAGCCCCACCCGAGGACCAGTCCCCGACTGCAGAGGAGCCCACCGGCGTTTTCCTGAAGAAGCCGGACTCC
GTCTCAGTGGAGACTGGGAAGGACGCAGTGGTCGTGGCCAAGGTGAACGGGAAGGAGCTCCCAGACAAACCGACCATCAAGTGGTTCAAG
GGGAAGTGGCTGGAGCTGGGCAGCAAGAGTGGCGCCCGCTTCTCCTTCAAGGAGTCCCACAACTCCGCCAGCAATGTGTACACCGTGGAG
CTGCACATTGGGAAGGTGGTACTGGGGGACCGTGGGTATTACCGCCTCGAGGTCAAAGCCAAGGACACCTGTGACAGCTGTGGCTTCAAC
ATCGATGTGGAGGCACCCCGTCAGGATGCCTCTGGGCAGAGTCTAGAAAGCTTCAAGCGTACGAGTGAAAAGAAGTCGGATACTGCAGGT
GAGCTGGATTTCAGTGGCCTGTTGAAGAAGAGGGAGGTGGTGGAGGAGGAGAAGAAGAAGAAAAAGAAAGATGACGATGACCTAGGCATC
CCCCCGGAGATTTGGGAGCTCCTGAAAGGGGCAAAGAAGAGCGAGTACGAGAAAATCGCCTTCCAGTATGGCATCACCGACCTCCGGGGC
ATGCTGAAGCGGCTGAAAAAGGCTAAGGTCGAGGTCAAGAAGAGTGCAGCATTCACAAAGAAGCTGGATCCAGCCTACCAAGTGGACAGA
GGCAACAAGATCAAGTTGATGGTAGAGATCAGCGACCCAGACCTGACCCTCAAGTGGTTCAAGAACGGCCAGGAGATCAAACCAAGCAGC
AAGTACGTGTTTGAGAACGTTGGTAAGAAGCGAATTCTTACCATCAACAAGTGCACGCTGGCGGATGACGCTGCCTATGAAGTAGCTGTC
AAGGATGAGAAGTGTTTCACCGAGCTCTTCGTCAAAGAACCTCCAGTCCTAATTGTCACACCTCTTGAGGACCAGCAGGTGTTTGTGGGT
GACCGGGTGGAAATGGCAGTGGAGGTGTCAGAAGAGGGTGCCCAGGTGATGTGGATGAAAGATGGTGTGGAACTGACTCGGGAGGATTCC
TTCAAGGCCCGGTACCGCTTCAAGAAGGACGGGAAGCGCCACATCCTCATCTTCTCAGACGTGGTCCAGGAGGACAGGGGTCGCTATCAG
GTCATAACCAATGGCGGCCAGTGTGAGGCCGAGCTGATTGTGGAAGAGAAACAGCTGGAGGTCCTGCAGGACATCGCGGATCTGACGGTG
AAGGCCTCAGAACAAGCTGTGTTCAAGTGCGAGGTGTCTGATGAGAAAGTGACGGGCAAGTGGTATAAGAATGGGGTCGAGGTGCGGCCC
AGCAAGAGGATCACCATTTCCCATGTAGGCAGGTTCCACAAGCTGGTGATCGATGACGTCCGCCCCGAGGATGAGGGAGACTACACGTTT
GTGCCTGACGGCTACGCCCTGTCGCTCTCGGCCAAGCTCAACTTCCTGGAAATCAAGGTGGAGTACGTTCCCAAGCAAGAGCCACCAAAG
ATCCACTTGGATTGCTCGGGGAAGACCTCAGAGAATGCGATTGTGGTTGTGGCTGGAAACAAGCTGAGGCTTGACGTGTCCATCACAGGG
GAGCCCCCTCCCGTCGCTACCTGGCTGAAGGGAGATGAGAACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCGATTTGCCAGT
GAGGCCAGTGGCTACCAGGACAACATTGCGCGCCTGGAGGAGGAAATCCGGCACCTCAAGGATGAGATGGCCCGCCATCTGCGCGAGTAC
CAGGACCTGCTCAACGTGAAGATGGCCCTGGATGTGGAGATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCGGATCAATCTC
CCCATCCAGACCTACTCTGCCCTCAACTTCCGAGAAACCAGCCCTGAGCAAAGGGGTTCTGAGGTCCATACCAAGAAGACGGTGATGATC


* Fusion transcript sequences (Full-length transcript).
>In-frame_MYBPC2_ENST00000357701_chr19_50955260_+_DES_ENST00000373960_chr2_220286062_+_2939nt
GGCCTAGCGGGACGCGGCTGCGGTCAGAGGAGCAGGAGGAGGTCCCCCGACATGCCTGAGGCAAAACCAGCGGCCAAAAAGGCCCCCAAA
GGCAAAGATGCCCCCAAAGGAGCCCCCAAGGAGGCTCCCCCTAAGGAGGCTCCTGCAGAGGCCCCCAAAGAAGCCCCACCCGAGGACCAG
TCCCCGACTGCAGAGGAGCCCACCGGCGTTTTCCTGAAGAAGCCGGACTCCGTCTCAGTGGAGACTGGGAAGGACGCAGTGGTCGTGGCC
AAGGTGAACGGGAAGGAGCTCCCAGACAAACCGACCATCAAGTGGTTCAAGGGGAAGTGGCTGGAGCTGGGCAGCAAGAGTGGCGCCCGC
TTCTCCTTCAAGGAGTCCCACAACTCCGCCAGCAATGTGTACACCGTGGAGCTGCACATTGGGAAGGTGGTACTGGGGGACCGTGGGTAT
TACCGCCTCGAGGTCAAAGCCAAGGACACCTGTGACAGCTGTGGCTTCAACATCGATGTGGAGGCACCCCGTCAGGATGCCTCTGGGCAG
AGTCTAGAAAGCTTCAAGCGTACGAGTGAAAAGAAGTCGGATACTGCAGGTGAGCTGGATTTCAGTGGCCTGTTGAAGAAGAGGGAGGTG
GTGGAGGAGGAGAAGAAGAAGAAAAAGAAAGATGACGATGACCTAGGCATCCCCCCGGAGATTTGGGAGCTCCTGAAAGGGGCAAAGAAG
AGCGAGTACGAGAAAATCGCCTTCCAGTATGGCATCACCGACCTCCGGGGCATGCTGAAGCGGCTGAAAAAGGCTAAGGTCGAGGTCAAG
AAGAGTGCAGCATTCACAAAGAAGCTGGATCCAGCCTACCAAGTGGACAGAGGCAACAAGATCAAGTTGATGGTAGAGATCAGCGACCCA
GACCTGACCCTCAAGTGGTTCAAGAACGGCCAGGAGATCAAACCAAGCAGCAAGTACGTGTTTGAGAACGTTGGTAAGAAGCGAATTCTT
ACCATCAACAAGTGCACGCTGGCGGATGACGCTGCCTATGAAGTAGCTGTCAAGGATGAGAAGTGTTTCACCGAGCTCTTCGTCAAAGAA
CCTCCAGTCCTAATTGTCACACCTCTTGAGGACCAGCAGGTGTTTGTGGGTGACCGGGTGGAAATGGCAGTGGAGGTGTCAGAAGAGGGT
GCCCAGGTGATGTGGATGAAAGATGGTGTGGAACTGACTCGGGAGGATTCCTTCAAGGCCCGGTACCGCTTCAAGAAGGACGGGAAGCGC
CACATCCTCATCTTCTCAGACGTGGTCCAGGAGGACAGGGGTCGCTATCAGGTCATAACCAATGGCGGCCAGTGTGAGGCCGAGCTGATT
GTGGAAGAGAAACAGCTGGAGGTCCTGCAGGACATCGCGGATCTGACGGTGAAGGCCTCAGAACAAGCTGTGTTCAAGTGCGAGGTGTCT
GATGAGAAAGTGACGGGCAAGTGGTATAAGAATGGGGTCGAGGTGCGGCCCAGCAAGAGGATCACCATTTCCCATGTAGGCAGGTTCCAC
AAGCTGGTGATCGATGACGTCCGCCCCGAGGATGAGGGAGACTACACGTTTGTGCCTGACGGCTACGCCCTGTCGCTCTCGGCCAAGCTC
AACTTCCTGGAAATCAAGGTGGAGTACGTTCCCAAGCAAGAGCCACCAAAGATCCACTTGGATTGCTCGGGGAAGACCTCAGAGAATGCG
ATTGTGGTTGTGGCTGGAAACAAGCTGAGGCTTGACGTGTCCATCACAGGGGAGCCCCCTCCCGTCGCTACCTGGCTGAAGGGAGATGAG
AACGATTCCCTGATGAGGCAGATGCGGGAATTGGAGGACCGATTTGCCAGTGAGGCCAGTGGCTACCAGGACAACATTGCGCGCCTGGAG
GAGGAAATCCGGCACCTCAAGGATGAGATGGCCCGCCATCTGCGCGAGTACCAGGACCTGCTCAACGTGAAGATGGCCCTGGATGTGGAG
ATTGCCACCTACCGGAAGCTGCTGGAGGGAGAGGAGAGCCGGATCAATCTCCCCATCCAGACCTACTCTGCCCTCAACTTCCGAGAAACC
AGCCCTGAGCAAAGGGGTTCTGAGGTCCATACCAAGAAGACGGTGATGATCAAGACCATCGAGACACGGGATGGGGAGGTCGTCAGTGAG
GCCACACAGCAGCAGCATGAAGTGCTCTAAAGACAGAGACCCTCTGCCACCAGAGACCGTCCTCACCCCTGTCCTCACTGCTCCCTGAAG
CCAGCCTTCTTCCATCCCAGGACACCACACCCAGCCTCAGTCCTCCCCTCACAGCCTCTGACCCCTCCTCACTGGCCATCCCTCGTGGTC
CCCAACAGCGACATAGCCCATCCCTGCCTGGTCACAGGGCATGCCCCGGCCACCTCTGCGGACCCCAGCTGTGAGCCTTGGCTGTTGGCA
GTGAGTGAGCCTGGCTCTTGTGCTGGATGGAGCCCAGGCGGGAGCGGTGGCCCTGTCCCTCCCACCTCTGTGACCTCAGGCACTAGCCTT
TGGCTCTGGAGACAGCCCCAGAGCAGGGTGTTGGGATACTGCAGGGCCAGGACTGAGCCCCGCAGACCTCCCCAGCCCCTAGCCCAGGAG
AGAGAAAGCCAGGCAGGTAGCCAGGGGGACTAGCCCCTGTGGAGACTGGGGGGCTTGAAATTGTCCCCGTGGTCTCTTACTTTCCTTTCC
CCAGCCCAGGGTGGACTTAGAAAGCAGGGGCTACAAGAGGGAATCCCCGAAGGTGCTGGAGGTGGGAGCAGGAGATTGAGAAGGAGAGAA
AGTGGGTGAGATGCTGGAGAAGAGAGGAGAGGAGAGAGGCAGAGAGCGGTCTCAGGCTGGTGGGAGGGGCGCCCACCTCCCCACGCCCTC


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FusionGenePPI for MYBPC2_DES


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
MYBPC2ALKDESSPTAN1, SYNM, SYNC, NEB, DSP, S100A1, PLEKHA5, YWHAQ, ITSN1, SP1, SHBG, CRYAB, HNRNPUL1, RPL29, SNRNP70, HADHB, CCT7, MYL6, RPL17, JUP, HSP90AA5P, AURKB, MLH1, CAPN1, MAPKAPK2, TRIM63, TRIM55, EHHADH, UBE2I, PPP1R18, MOV10, BRCA1, HSPB1, GLI1, NEFM, GFAP, VIM, SPATA22, DLST, PDHA1, SOD1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49438_453341471CRYAB


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneDESchr19:50955260chr2:220286062ENST00000373960+49268_415341471NEB


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MYBPC2_DES


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 MYBPC2_DES


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDESC1832370MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED18CTD_human;ORPHANET;UNIPROT
TgeneDESC1858154CARDIOMYOPATHY, DILATED, 1I5CTD_human;UNIPROT
TgeneDESC1867005Scapuloperoneal Syndrome, Neurogenic, Kaeser Type3CTD_human;ORPHANET;UNIPROT
TgeneDESC0004238Atrial Fibrillation1CTD_human
TgeneDESC0017658Glomerulonephritis1CTD_human
TgeneDESC0024667Animal Mammary Neoplasms1CTD_human
TgeneDESC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneDESC0027720Nephrosis1CTD_human
TgeneDESC0038356Stomach Neoplasms1CTD_human
TgeneDESC0598608Hyperhomocysteinemia1CTD_human
TgeneDESC1458155Mammary Neoplasms1CTD_human