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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:MYO5A-NEDD4

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MYO5A-NEDD4
FusionPDB ID: 56709
FusionGDB2.0 ID: 56709
HgeneTgene
Gene symbol

MYO5A

NEDD4

Gene ID

4644

4734

Gene namemyosin VANEDD4 E3 ubiquitin protein ligase
SynonymsGS1|MYH12|MYO5|MYR12NEDD4-1|RPF1
Cytomap

15q21.2

15q21.3

Type of geneprotein-codingprotein-coding
Descriptionunconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-VamyoxinE3 ubiquitin-protein ligase NEDD4HECT-type E3 ubiquitin transferase NEDD4cell proliferation-inducing gene 53 proteinneural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligasereceptor-potentiating factor 1
Modification date2020031320200313
UniProtAcc

Q9Y4I1

Q96PU5

Ensembl transtripts involved in fusion geneENST idsENST00000356338, ENST00000358212, 
ENST00000399231, ENST00000399233, 
ENST00000553916, 
ENST00000338963, 
ENST00000506154, ENST00000508075, 
ENST00000508342, ENST00000435532, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 13 X 6=101410 X 11 X 5=550
# samples 1211
** MAII scorelog2(12/1014*10)=-3.07895134139482
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/550*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MYO5A [Title/Abstract] AND NEDD4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MYO5A(52632393)-NEDD4(56216897), # samples:2
Anticipated loss of major functional domain due to fusion event.MYO5A-NEDD4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MYO5A-NEDD4 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MYO5A-NEDD4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MYO5A-NEDD4 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneNEDD4

GO:0006511

ubiquitin-dependent protein catabolic process

20086093|26263374

TgeneNEDD4

GO:0006622

protein targeting to lysosome

17116753

TgeneNEDD4

GO:0007041

lysosomal transport

18544533

TgeneNEDD4

GO:0010766

negative regulation of sodium ion transport

10642508

TgeneNEDD4

GO:0016567

protein ubiquitination

17996703|18305167|25631046|26280536

TgeneNEDD4

GO:0031623

receptor internalization

18544533

TgeneNEDD4

GO:0032801

receptor catabolic process

18544533

TgeneNEDD4

GO:0034765

regulation of ion transmembrane transport

17289006

TgeneNEDD4

GO:0042391

regulation of membrane potential

17289006

TgeneNEDD4

GO:0042921

glucocorticoid receptor signaling pathway

8649367

TgeneNEDD4

GO:0045732

positive regulation of protein catabolic process

14973438

TgeneNEDD4

GO:0046824

positive regulation of nucleocytoplasmic transport

17218261

TgeneNEDD4

GO:0050847

progesterone receptor signaling pathway

8649367

TgeneNEDD4

GO:1901016

regulation of potassium ion transmembrane transporter activity

17289006

TgeneNEDD4

GO:2000650

negative regulation of sodium ion transmembrane transporter activity

10642508


check buttonFusion gene breakpoints across MYO5A (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across NEDD4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4SARCTCGA-VT-A80J-01AMYO5Achr15

52632393

-NEDD4chr15

56216897

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000399231MYO5Achr1552632393-ENST00000435532NEDD4chr1556216897-9924448324469482234
ENST00000356338MYO5Achr1552632393-ENST00000435532NEDD4chr1556216897-967342327466972207
ENST00000358212MYO5Achr1552632393-ENST00000435532NEDD4chr1556216897-96804239067042234
ENST00000399233MYO5Achr1552632393-ENST00000435532NEDD4chr1556216897-9915447424469392231
ENST00000553916MYO5Achr1552632393-ENST00000435532NEDD4chr1556216897-963441933566582207

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000399231ENST00000435532MYO5Achr1552632393-NEDD4chr1556216897-0.0005303210.9994697
ENST00000356338ENST00000435532MYO5Achr1552632393-NEDD4chr1556216897-0.0004080050.999592
ENST00000358212ENST00000435532MYO5Achr1552632393-NEDD4chr1556216897-0.0005825380.9994174
ENST00000399233ENST00000435532MYO5Achr1552632393-NEDD4chr1556216897-0.0005260940.99947387
ENST00000553916ENST00000435532MYO5Achr1552632393-NEDD4chr1556216897-0.0003938940.9996061

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>56709_56709_1_MYO5A-NEDD4_MYO5A_chr15_52632393_ENST00000356338_NEDD4_chr15_56216897_ENST00000435532_length(amino acids)=2207AA_BP=161
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGFETFEINSFE
QFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAISPTSATSSGRTPLTRTPAKPTKGRPGQMAKE
HKKTVGHQFRNSLHLLMETLNATTPHYVRCIKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFRAGQVAYLEKLRADKLRAACIRIQKTIRGWLLRKKYLRMRKAAITMQRYVRGYQARCYAK
FLRRTKAATIIQKYWRMYVVRRRYKIRRAATIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSETEKLRSDLERLQLSEEEAKVATGRVLSLQE
EIAKLRKDLEQTRSEKKCIEEHADRYKQETEQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRTEEPSEKKVPLDMSLFLKLQKRVTELEQEKQ
VMQDELDRKEEQVLRSKAKEEERPQIRGAELEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNRLLESQLQSQKRSHENEAEALRGEIQSLKEE
NNRQQQLLAQNLQLPPEARIEASLQHEITRLTNENLVHPQQHRLLFEVFDENRLTRDDFLGQVDVPLYPLPTENPRLERPYTFKDFVLHP
RSHKSRVKGYLRLKMTYLPKTSGSEDDNAEQAEELEPGWVVLDQPDAACHLQQQQEPSPLPPGWEERQDILGRTYYVNHESRRTQWKRPT
PQDNLTDAENGNIQLQAQRAFTTRRQISEETESVDNRESSENWEIIREDEATMYSNQAFPSPPPSSNLDVPTHLAEELNARLTIFGNSAV
SQPASSSNHSSRRGSLQAYTFEEQPTLPVLLPTSSGLPPGWEEKQDERGRSYYVDHNSRTTTWTKPTVQATVETSQLTSSQSSAGPQSQA
STSDSGQQVTQPSEIEQGFLPKGWEVRHAPNGRPFFIDHNTKTTTWEDPRLKIPAHLRGKTSLDTSNDLGPLPPGWEERTHTDGRIFYIN
HNIKRTQWEDPRLENVAITGPAVPYSRDYKRKYEFFRRKLKKQNDIPNKFEMKLRRATVLEDSYRRIMGVKRADFLKARLWIEFDGEKGL
DYGGVAREWFFLISKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFKFIGRVAGMAVYHGKLLDGFFIRPFYKMMLHKPITLHD
MESVDSEYYNSLRWILENDPTELDLRFIIDEELFGQTHQHELKNGGSEIVVTNKNKKEYIYLVIQWRFVNRIQKQMAAFKEGFFELIPQD
LIKIFDENELELLMCGLGDVDVNDWREHTKYKNGYSANHQVIQWFWKAVLMMDSEKRIRLLQFVTGTSRVPMNGFAELYGSNGPQSFTVE

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>56709_56709_2_MYO5A-NEDD4_MYO5A_chr15_52632393_ENST00000358212_NEDD4_chr15_56216897_ENST00000435532_length(amino acids)=2234AA_BP=161
MKSSSLETMFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGFETFEINSFE
QFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAISPTSATSSGRTPLTRTPAKPTKGRPGQMAKE
HKKTVGHQFRNSLHLLMETLNATTPHYVRCIKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFRAGQVAYLEKLRADKLRAACIRIQKTIRGWLLRKKYLRMRKAAITMQRYVRGYQARCYAK
FLRRTKAATIIQKYWRMYVVRRRYKIRRAATIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSETEKLRSDLERLQLSEEEAKVATGRVLSLQE
EIAKLRKDLEQTRSEKKCIEEHADRYKQETEQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRTEEPSEKKVPLDMSLFLKLQKRVTELEQEKQ
VMQDELDRKEEQVLRSKAKEEERPQIRGAELEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKLHENTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNRSSALDYHELNEDGELWLVYEGLKQANRLLE
SQLQSQKRSHENEAEALRGEIQSLKEENNRQQQLLAQNLQLPPEARIEASLQHEITRLTNENLVHPQQHRLLFEVFDENRLTRDDFLGQV
DVPLYPLPTENPRLERPYTFKDFVLHPRSHKSRVKGYLRLKMTYLPKTSGSEDDNAEQAEELEPGWVVLDQPDAACHLQQQQEPSPLPPG
WEERQDILGRTYYVNHESRRTQWKRPTPQDNLTDAENGNIQLQAQRAFTTRRQISEETESVDNRESSENWEIIREDEATMYSNQAFPSPP
PSSNLDVPTHLAEELNARLTIFGNSAVSQPASSSNHSSRRGSLQAYTFEEQPTLPVLLPTSSGLPPGWEEKQDERGRSYYVDHNSRTTTW
TKPTVQATVETSQLTSSQSSAGPQSQASTSDSGQQVTQPSEIEQGFLPKGWEVRHAPNGRPFFIDHNTKTTTWEDPRLKIPAHLRGKTSL
DTSNDLGPLPPGWEERTHTDGRIFYINHNIKRTQWEDPRLENVAITGPAVPYSRDYKRKYEFFRRKLKKQNDIPNKFEMKLRRATVLEDS
YRRIMGVKRADFLKARLWIEFDGEKGLDYGGVAREWFFLISKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFKFIGRVAGMAV
YHGKLLDGFFIRPFYKMMLHKPITLHDMESVDSEYYNSLRWILENDPTELDLRFIIDEELFGQTHQHELKNGGSEIVVTNKNKKEYIYLV
IQWRFVNRIQKQMAAFKEGFFELIPQDLIKIFDENELELLMCGLGDVDVNDWREHTKYKNGYSANHQVIQWFWKAVLMMDSEKRIRLLQF

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>56709_56709_3_MYO5A-NEDD4_MYO5A_chr15_52632393_ENST00000399231_NEDD4_chr15_56216897_ENST00000435532_length(amino acids)=2234AA_BP=161
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGFETFEINSFE
QFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAISPTSATSSGRTPLTRTPAKPTKGRPGQMAKE
HKKTVGHQFRNSLHLLMETLNATTPHYVRCIKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFRAGQVAYLEKLRADKLRAACIRIQKTIRGWLLRKKYLRMRKAAITMQRYVRGYQARCYAK
FLRRTKAATIIQKYWRMYVVRRRYKIRRAATIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSETEKLRSDLERLQLSEEEAKVATGRVLSLQE
EIAKLRKDLEQTRSEKKCIEEHADRYKQETEQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRTEEPSEKKVPLDMSLFLKLQKRVTELEQEKQ
VMQDELDRKEEQVLRSKAKEEERPQIRGAELEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNRSSALDYHELNEDGELWLVYEGLKQANRLLE
SQLQSQKRSHENEAEALRGEIQSLKEENNRQQQLLAQNLQLPPEARIEASLQHEITRLTNENLVHPQQHRLLFEVFDENRLTRDDFLGQV
DVPLYPLPTENPRLERPYTFKDFVLHPRSHKSRVKGYLRLKMTYLPKTSGSEDDNAEQAEELEPGWVVLDQPDAACHLQQQQEPSPLPPG
WEERQDILGRTYYVNHESRRTQWKRPTPQDNLTDAENGNIQLQAQRAFTTRRQISEETESVDNRESSENWEIIREDEATMYSNQAFPSPP
PSSNLDVPTHLAEELNARLTIFGNSAVSQPASSSNHSSRRGSLQAYTFEEQPTLPVLLPTSSGLPPGWEEKQDERGRSYYVDHNSRTTTW
TKPTVQATVETSQLTSSQSSAGPQSQASTSDSGQQVTQPSEIEQGFLPKGWEVRHAPNGRPFFIDHNTKTTTWEDPRLKIPAHLRGKTSL
DTSNDLGPLPPGWEERTHTDGRIFYINHNIKRTQWEDPRLENVAITGPAVPYSRDYKRKYEFFRRKLKKQNDIPNKFEMKLRRATVLEDS
YRRIMGVKRADFLKARLWIEFDGEKGLDYGGVAREWFFLISKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFKFIGRVAGMAV
YHGKLLDGFFIRPFYKMMLHKPITLHDMESVDSEYYNSLRWILENDPTELDLRFIIDEELFGQTHQHELKNGGSEIVVTNKNKKEYIYLV
IQWRFVNRIQKQMAAFKEGFFELIPQDLIKIFDENELELLMCGLGDVDVNDWREHTKYKNGYSANHQVIQWFWKAVLMMDSEKRIRLLQF

--------------------------------------------------------------

>56709_56709_4_MYO5A-NEDD4_MYO5A_chr15_52632393_ENST00000399233_NEDD4_chr15_56216897_ENST00000435532_length(amino acids)=2231AA_BP=161
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGFETFEINSFE
QFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAISPTSATSSGRTPLTRTPAKPTKGRPGQMAKE
HKKTVGHQFRNSLHLLMETLNATTPHYVRCIKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFRAGQVAYLEKLRADKLRAACIRIQKTIRGWLLRKKYLRMRKAAITMQRYVRGYQARCYAK
FLRRTKAATIIQKYWRMYVVRRRYKIRRAATIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSETEKLRSDLERLQLSEEEAKVATGRVLSLQE
EIAKLRKDLEQTRSEKKCIEEHADRYKQETEQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRTEEPSEKKVPLDMSLFLKLQKRVTELEQEKQ
VMQDELDRKEEQVLRSKAKEEERPQIRGAELEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNRSSALDYHELNEDGELWLVYEGLKQANRLLESQL
QSQKRSHENEAEALRGEIQSLKEENNRQQQLLAQNLQLPPEARIEASLQHEITRLTNENLVHPQQHRLLFEVFDENRLTRDDFLGQVDVP
LYPLPTENPRLERPYTFKDFVLHPRSHKSRVKGYLRLKMTYLPKTSGSEDDNAEQAEELEPGWVVLDQPDAACHLQQQQEPSPLPPGWEE
RQDILGRTYYVNHESRRTQWKRPTPQDNLTDAENGNIQLQAQRAFTTRRQISEETESVDNRESSENWEIIREDEATMYSNQAFPSPPPSS
NLDVPTHLAEELNARLTIFGNSAVSQPASSSNHSSRRGSLQAYTFEEQPTLPVLLPTSSGLPPGWEEKQDERGRSYYVDHNSRTTTWTKP
TVQATVETSQLTSSQSSAGPQSQASTSDSGQQVTQPSEIEQGFLPKGWEVRHAPNGRPFFIDHNTKTTTWEDPRLKIPAHLRGKTSLDTS
NDLGPLPPGWEERTHTDGRIFYINHNIKRTQWEDPRLENVAITGPAVPYSRDYKRKYEFFRRKLKKQNDIPNKFEMKLRRATVLEDSYRR
IMGVKRADFLKARLWIEFDGEKGLDYGGVAREWFFLISKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFKFIGRVAGMAVYHG
KLLDGFFIRPFYKMMLHKPITLHDMESVDSEYYNSLRWILENDPTELDLRFIIDEELFGQTHQHELKNGGSEIVVTNKNKKEYIYLVIQW
RFVNRIQKQMAAFKEGFFELIPQDLIKIFDENELELLMCGLGDVDVNDWREHTKYKNGYSANHQVIQWFWKAVLMMDSEKRIRLLQFVTG

--------------------------------------------------------------

>56709_56709_5_MYO5A-NEDD4_MYO5A_chr15_52632393_ENST00000553916_NEDD4_chr15_56216897_ENST00000435532_length(amino acids)=2207AA_BP=161
MAASELYTKFARVWIPDPEEVWKSAELLKDYKPGDKVLLLHLEEGKDLEYHLDPKTKELPHLRNPDILVGENDLTALSYLHEPAVLHNLR
VRFIDSKLIYTYCGIVLVAINPYEQLPIYGEDIINAYSGQNMGDMDPHIFAVAEEAYKQMARDERNQSIIVSGESGAGKTVSAKYAMRYF
ATVSGSASEANVEEKVLASNPIMESIGNAKTTRNDNSSRFGKYIEIGFDKRYRIIGANMRTYLLEKSRVVFQAEEERNYHIFYQLCASAK
LPEFKMLRLGNADNFNYTKQGGSPVIEGVDDAKEMAHTRQACTLLGISESHQMGIFRILAGILHLGNVGFTSRDADSCTIPPKHEPLCIF
CELMGVDYEEMCHWLCHRKLATATETYIKPISKLQATNARDALAKHIYAKLFNWIVDNVNQALHSAVKQHSFIGVLDIYGFETFEINSFE
QFCINYANEKLQQQFNMHVFKLEQEEYMKEQIPWTLIDFYDNQPCINLIESKLGILDLLDEECKMPKGTDDTWAQKLYNTHLNKCALFEK
PRLSNKAFIIQHFADKVEYQCEGFLEKNKDTVFEEQIKVLKSSKFKMLPELFQDDEKAISPTSATSSGRTPLTRTPAKPTKGRPGQMAKE
HKKTVGHQFRNSLHLLMETLNATTPHYVRCIKPNDFKFPFTFDEKRAVQQLRACGVLETIRISAAGFPSRWTYQEFFSRYRVLMKQKDVL
SDRKQTCKNVLEKLILDKDKYQFGKTKIFFRAGQVAYLEKLRADKLRAACIRIQKTIRGWLLRKKYLRMRKAAITMQRYVRGYQARCYAK
FLRRTKAATIIQKYWRMYVVRRRYKIRRAATIVLQSYLRGFLARNRYRKILREHKAVIIQKRVRGWLARTHYKRSMHAIIYLQCCFRRMM
AKRELKKLKIEARSVERYKKLHIGMENKIMQLQRKVDEQNKDYKCLVEKLTNLEGIYNSETEKLRSDLERLQLSEEEAKVATGRVLSLQE
EIAKLRKDLEQTRSEKKCIEEHADRYKQETEQLVSNLKEENTLLKQEKEALNHRIVQQAKEMTETMEKKLVEETKQLELDLNDERLRYQN
LLNEFSRLEERYDDLKEEMTLMVHVPKPGHKRTDSTHSSNESEYIFSSEIAEMEDIPSRTEEPSEKKVPLDMSLFLKLQKRVTELEQEKQ
VMQDELDRKEEQVLRSKAKEEERPQIRGAELEYESLKRQELESENKKLKNELNELRKALSEKSAPEVTAPGAPAYRVLMEQLTSVSEELD
VRKEEVLILRSQLVSQKEAIQPKDDKNTMTDSTILLEDVQKMKDKGEIAQAYIGLKETNRLLESQLQSQKRSHENEAEALRGEIQSLKEE
NNRQQQLLAQNLQLPPEARIEASLQHEITRLTNENLVHPQQHRLLFEVFDENRLTRDDFLGQVDVPLYPLPTENPRLERPYTFKDFVLHP
RSHKSRVKGYLRLKMTYLPKTSGSEDDNAEQAEELEPGWVVLDQPDAACHLQQQQEPSPLPPGWEERQDILGRTYYVNHESRRTQWKRPT
PQDNLTDAENGNIQLQAQRAFTTRRQISEETESVDNRESSENWEIIREDEATMYSNQAFPSPPPSSNLDVPTHLAEELNARLTIFGNSAV
SQPASSSNHSSRRGSLQAYTFEEQPTLPVLLPTSSGLPPGWEEKQDERGRSYYVDHNSRTTTWTKPTVQATVETSQLTSSQSSAGPQSQA
STSDSGQQVTQPSEIEQGFLPKGWEVRHAPNGRPFFIDHNTKTTTWEDPRLKIPAHLRGKTSLDTSNDLGPLPPGWEERTHTDGRIFYIN
HNIKRTQWEDPRLENVAITGPAVPYSRDYKRKYEFFRRKLKKQNDIPNKFEMKLRRATVLEDSYRRIMGVKRADFLKARLWIEFDGEKGL
DYGGVAREWFFLISKEMFNPYYGLFEYSATDNYTLQINPNSGLCNEDHLSYFKFIGRVAGMAVYHGKLLDGFFIRPFYKMMLHKPITLHD
MESVDSEYYNSLRWILENDPTELDLRFIIDEELFGQTHQHELKNGGSEIVVTNKNKKEYIYLVIQWRFVNRIQKQMAAFKEGFFELIPQD
LIKIFDENELELLMCGLGDVDVNDWREHTKYKNGYSANHQVIQWFWKAVLMMDSEKRIRLLQFVTGTSRVPMNGFAELYGSNGPQSFTVE

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr15:52632393/chr15:56216897)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MYO5A

Q9Y4I1

NEDD4

Q96PU5

FUNCTION: Processive actin-based motor that can move in large steps approximating the 36-nm pseudo-repeat of the actin filament. Involved in melanosome transport. Also mediates the transport of vesicles to the plasma membrane. May also be required for some polarization process involved in dendrite formation. {ECO:0000269|PubMed:10448864}.FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Inhibits TGF-beta signaling by triggering SMAD2 and TGFBR1 ubiquitination and proteasome-dependent degradation. Promotes ubiquitination and internalization of various plasma membrane channels such as ENaC, SCN2A/Nav1.2, SCN3A/Nav1.3, SCN5A/Nav1.5, SCN9A/Nav1.7, SCN10A/Nav1.8, KCNA3/Kv1.3, KCNH2, EAAT1, KCNQ2/Kv7.2, KCNQ3/Kv7.3 or CLC5 (PubMed:26363003, PubMed:27445338). Promotes ubiquitination and degradation of SGK1 and TNK2. Ubiquitinates BRAT1 and this ubiquitination is enhanced in the presence of NDFIP1 (PubMed:25631046). Plays a role in dendrite formation by melanocytes (PubMed:23999003). Involved in the regulation of TOR signaling (PubMed:27694961). Ubiquitinates and regulates protein levels of NTRK1 once this one is activated by NGF (PubMed:27445338). {ECO:0000250|UniProtKB:Q8CFI0, ECO:0000269|PubMed:12911626, ECO:0000269|PubMed:15040001, ECO:0000269|PubMed:15217910, ECO:0000269|PubMed:15489223, ECO:0000269|PubMed:15496141, ECO:0000269|PubMed:15576372, ECO:0000269|PubMed:19144635, ECO:0000269|PubMed:23999003, ECO:0000269|PubMed:25631046, ECO:0000269|PubMed:26363003, ECO:0000269|PubMed:27445338, ECO:0000269|PubMed:27694961}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140914_12371386.01829.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241914_12371413.01856.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-314069_7631386.01829.0DomainMyosin motor
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140766_7881386.01829.0DomainIQ 1
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140789_8181386.01829.0DomainIQ 2
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140814_8361386.01829.0DomainIQ 3
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140837_8611386.01829.0DomainIQ 4
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140862_8831386.01829.0DomainIQ 5
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140885_9141386.01829.0DomainIQ 6
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-31408_601386.01829.0DomainMyosin N-terminal SH3-like
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-324169_7631413.01856.0DomainMyosin motor
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241766_7881413.01856.0DomainIQ 1
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241789_8181413.01856.0DomainIQ 2
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241814_8361413.01856.0DomainIQ 3
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241837_8611413.01856.0DomainIQ 4
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241862_8831413.01856.0DomainIQ 5
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241885_9141413.01856.0DomainIQ 6
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-32418_601413.01856.0DomainMyosin N-terminal SH3-like
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140163_1701386.01829.0Nucleotide bindingATP
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241163_1701413.01856.0Nucleotide bindingATP
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-3140643_6651386.01829.0RegionActin-binding
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-3241643_6651413.01856.0RegionActin-binding
TgeneNEDD4chr15:52632393chr15:56216897ENST0000033896302268_21501248.0Compositional biasNote=Ser-rich
TgeneNEDD4chr15:52632393chr15:56216897ENST0000050615402568_21501304.0Compositional biasNote=Ser-rich
TgeneNEDD4chr15:52632393chr15:56216897ENST0000050834202568_21501320.0Compositional biasNote=Ser-rich
TgeneNEDD4chr15:52632393chr15:56216897ENST00000338963022610_64301248.0DomainWW 1
TgeneNEDD4chr15:52632393chr15:56216897ENST00000338963022767_80001248.0DomainWW 2
TgeneNEDD4chr15:52632393chr15:56216897ENST00000338963022840_87301248.0DomainWW 3
TgeneNEDD4chr15:52632393chr15:56216897ENST00000338963022892_92501248.0DomainWW 4
TgeneNEDD4chr15:52632393chr15:56216897ENST00000338963022984_131801248.0DomainHECT
TgeneNEDD4chr15:52632393chr15:56216897ENST00000435532329610_64379.0901.0DomainWW 1
TgeneNEDD4chr15:52632393chr15:56216897ENST00000435532329767_80079.0901.0DomainWW 2
TgeneNEDD4chr15:52632393chr15:56216897ENST00000435532329840_87379.0901.0DomainWW 3
TgeneNEDD4chr15:52632393chr15:56216897ENST00000435532329892_92579.0901.0DomainWW 4
TgeneNEDD4chr15:52632393chr15:56216897ENST00000435532329984_131879.0901.0DomainHECT
TgeneNEDD4chr15:52632393chr15:56216897ENST00000506154025610_64301304.0DomainWW 1
TgeneNEDD4chr15:52632393chr15:56216897ENST00000506154025767_80001304.0DomainWW 2
TgeneNEDD4chr15:52632393chr15:56216897ENST00000506154025840_87301304.0DomainWW 3
TgeneNEDD4chr15:52632393chr15:56216897ENST00000506154025892_92501304.0DomainWW 4
TgeneNEDD4chr15:52632393chr15:56216897ENST00000506154025984_131801304.0DomainHECT
TgeneNEDD4chr15:52632393chr15:56216897ENST00000508342025610_64301320.0DomainWW 1
TgeneNEDD4chr15:52632393chr15:56216897ENST00000508342025767_80001320.0DomainWW 2
TgeneNEDD4chr15:52632393chr15:56216897ENST00000508342025840_87301320.0DomainWW 3
TgeneNEDD4chr15:52632393chr15:56216897ENST00000508342025892_92501320.0DomainWW 4
TgeneNEDD4chr15:52632393chr15:56216897ENST00000508342025984_131801320.0DomainHECT

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-31401338_14451386.01829.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-32411338_14451413.01856.0Coiled coilOntology_term=ECO:0000255
HgeneMYO5Achr15:52632393chr15:56216897ENST00000356338-31401534_18101386.01829.0DomainDilute
HgeneMYO5Achr15:52632393chr15:56216897ENST00000399231-32411534_18101413.01856.0DomainDilute
TgeneNEDD4chr15:52632393chr15:56216897ENST0000043553232968_21579.0901.0Compositional biasNote=Ser-rich


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
MYO5AMLPH, DYNLL2, DLGAP1, DYNLL1, SHANK2, RAB27A, BMF, EXOC3, EXOC4, EXOC6, SIRT7, FBXO25, HGS, TRIM3, GRIA2, GRIA1, PAN2, CCDC8, PEX19, CREB3, SCP2, DTNBP1, MYH11, CAPZA2, MYO1E, PLS3, NTRK1, CDK2, DBN1, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, SYNPO, LIMA1, ANLN, MYO5C, MYO19, MYO18A, Actb, Flot1, Itga5, Myo1c, Ppp1cb, Tpm1, Coro1c, Tmod3, Lima1, Calml3, Myh10, Flnb, FBXW7, SSH1, DKK3, CDH5, TMOD4, UBE2O, TMOD3, EID1, FEZ1, OS9, PPP6R2, MYL2, LRRIQ1, AVIL, FAM160B2, IL20RA, TRIM25, HNRNPL, CALM1, AKAP9, NDEL1, TNF, ESR2, MB21D1, MYC, CDK9, NEK2, KIAA1429, USP14, APEX1, SQSTM1, PLEKHA4, ZC3H18, PRKD1, M, nsp4, nsp6, ORF7b, ESR1, KIF5B, RPH3A, RAB3A, LRRC31, KIF14, KIF23, ARHGEF11, nsp13ab, NINL, NUPR1, DNAJC5, AR, ISG15, EIF6, LAMP1, LAMP2, LAMP3, LAMTOR1, LCK, PEX3, PFN1, RAB11A, RAB2A, RAB35, RAB3B, RAB4A, RAB9A, STX7, TRIM37, ZCCHC10, PBXIP1, INTS4P2, PIPSL, MALL, TRAK1, DPM2, PNMA2, TNNC1, CUL9, WWC1, SH3BGRL, TMEM257, CXCL6, SAAL1, MYL12B, RBX1, GAGE5, LURAP1, PTP4A3, EIF2B5, TRIM52, CASQ2, DTX3, BTF3, nsp1, nsp12, CLEC4D, CLEC4E, PDE4B, FOS,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MYO5Aall structure
NEDD4


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to MYO5A-NEDD4


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to MYO5A-NEDD4


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYO5AC1836573GRISCELLI SYNDROME, TYPE 32GENOMICS_ENGLAND;ORPHANET
HgeneMYO5AC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneMYO5AC0398794Hypopigmentation-immunodeficiency disease1GENOMICS_ENGLAND
HgeneMYO5AC1859194GRISCELLI SYNDROME, TYPE 11CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneMYO5AC1860157Elejalde Disease1GENOMICS_ENGLAND;ORPHANET
HgeneMYO5AC4721453Peripheral Nervous System Diseases1CTD_human