	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 22948

FusionGeneSummary for MYBPC2_DES

Fusion gene summary

Fusion gene information	Fusion gene name: MYBPC2_DES
	Fusion gene ID: 22948
		Hgene	Tgene
	Gene symbol	MYBPC2	DES
	Gene ID	4606	1674
	Gene name	myosin binding protein C, fast type	desmin
	Synonyms	MYBPC\|MYBPCF	CDCD3\|CMD1F\|CSM1\|CSM2\|LGMD1D\|LGMD1E\|LGMD2R
	Cytomap	19q13.33	2q35
	Type of gene	protein-coding	protein-coding
	Description	myosin-binding protein C, fast-typeC-protein, skeletal muscle fast isoformfast MyBP-Cfast-type muscle myosin-binding-protein Ctesticular tissue protein Li 126	desmincardiomyopathy, dilated 1F (autosomal dominant)intermediate filament proteinmutant desmin p.K241E
	Modification date	20180523	20180522
	UniProtAcc	Q14324	P17661
	Ensembl transtripts involved in fusion gene	ENST00000357701,	ENST00000373960,
Fusion gene scores	* DoF score	3 X 3 X 2=18	4 X 5 X 2=40
	# samples	3	5
	** MAII score	log2(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	HNSC	TCGA-CV-5971-01A	MYBPC2	chr19	50955260	+	DES	chr2	220286062	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
In-frame	ENST00000357701	ENST00000373960	MYBPC2	chr19	50955260	+	DES	chr2	220286062	+

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FusionProtFeatures for MYBPC2_DES

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
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.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

255_344

583

1142

Domain

Note=Ig-like C2-type 2

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

345_437

583

1142

Domain

Note=Ig-like C2-type 3

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

438_538

583

1142

Domain

Note=Ig-like C2-type 4

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

50_153

583

1142

Domain

Note=Ig-like C2-type 1

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

413_470

341

471

Region

Note=Tail

- In-frame and not-retained protein feature among the 13 regional features.

>>>>>>

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

1048_1141

583

1142

Domain

Note=Ig-like C2-type 7

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

539_638

583

1142

Domain

Note=Ig-like C2-type 5

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

641_737

583

1142

Domain

Fibronectin type-III 1

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

739_834

583

1142

Domain

Fibronectin type-III 2

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

838_932

583

1142

Domain

Note=Ig-like C2-type 6

Hgene

MYBPC2

chr19:50955260

chr2:220286062

ENST00000357701

935_1030

583

1142

Domain

Fibronectin type-III 3

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

108_416

341

471

Domain

IF rod

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

109_141

341

471

Region

Note=Coil 1A

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

142_151

341

471

Region

Note=Linker 1

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

152_252

341

471

Region

Note=Coil 1B

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

1_108

341

471

Region

Note=Head

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

253_268

341

471

Region

Note=Linker 12

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

269_287

341

471

Region

Note=Coil 2A

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

288_295

341

471

Region

Note=Linker 2

Tgene

DES

chr19:50955260

chr2:220286062

ENST00000373960

296_412

341

471

Region

Note=Coil 2B

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FusionGeneSequence for MYBPC2_DES

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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
MYBPC2	ALK	DES	SPTAN1, 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

- Retained PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Still interaction with
Tgene	DES	chr19:50955260	chr2:220286062	ENST00000373960	+	4	9	438_453	341	471	CRYAB

- Lost PPIs in in-frame fusion.

Partner	Gene	Hbp	Tbp	ENST	Strand	BPexon	TotalExon	Protein feature loci	*BPloci	TotalLen	Interaction lost with
Tgene	DES	chr19:50955260	chr2:220286062	ENST00000373960	+	4	9	268_415	341	471	NEB

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for MYBPC2_DES

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for MYBPC2_DES

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	DES	C1832370	MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	18	CTD_human;ORPHANET;UNIPROT
Tgene	DES	C1858154	CARDIOMYOPATHY, DILATED, 1I	5	CTD_human;UNIPROT
Tgene	DES	C1867005	Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	3	CTD_human;ORPHANET;UNIPROT
Tgene	DES	C0004238	Atrial Fibrillation	1	CTD_human
Tgene	DES	C0017658	Glomerulonephritis	1	CTD_human
Tgene	DES	C0024667	Animal Mammary Neoplasms	1	CTD_human
Tgene	DES	C0024668	Mammary Neoplasms, Experimental	1	CTD_human
Tgene	DES	C0027720	Nephrosis	1	CTD_human
Tgene	DES	C0038356	Stomach Neoplasms	1	CTD_human
Tgene	DES	C0598608	Hyperhomocysteinemia	1	CTD_human
Tgene	DES	C1458155	Mammary Neoplasms	1	CTD_human

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Fusion gene ID: 22948

FusionGeneSummary for MYBPC2_DES

FusionProtFeatures for MYBPC2_DES

FusionGeneSequence for MYBPC2_DES

FusionGenePPI for MYBPC2_DES

RelatedDrugs for MYBPC2_DES

RelatedDiseases for MYBPC2_DES