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Fusion Protein:MYO5A-NEDD4 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: MYO5A-NEDD4 | FusionPDB ID: 56709 | FusionGDB2.0 ID: 56709 | Hgene | Tgene | Gene symbol | MYO5A | NEDD4 | Gene ID | 4644 | 4734 |
Gene name | myosin VA | NEDD4 E3 ubiquitin protein ligase | |
Synonyms | GS1|MYH12|MYO5|MYR12 | NEDD4-1|RPF1 | |
Cytomap | 15q21.2 | 15q21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | unconventional myosin-Vadilute myosin heavy chain, non-musclemyosin Vmyosin VA (heavy chain 12, myoxin)myosin, heavy polypeptide kinasemyosin-12myosin-Vamyoxin | E3 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 date | 20200313 | 20200313 | |
UniProtAcc | Q9Y4I1 | Q96PU5 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000356338, ENST00000358212, ENST00000399231, ENST00000399233, ENST00000553916, | ENST00000338963, ENST00000506154, ENST00000508075, ENST00000508342, ENST00000435532, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 13 X 13 X 6=1014 | 10 X 11 X 5=550 |
# samples | 12 | 11 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | NEDD4 | GO:0006511 | ubiquitin-dependent protein catabolic process | 20086093|26263374 |
Tgene | NEDD4 | GO:0006622 | protein targeting to lysosome | 17116753 |
Tgene | NEDD4 | GO:0007041 | lysosomal transport | 18544533 |
Tgene | NEDD4 | GO:0010766 | negative regulation of sodium ion transport | 10642508 |
Tgene | NEDD4 | GO:0016567 | protein ubiquitination | 17996703|18305167|25631046|26280536 |
Tgene | NEDD4 | GO:0031623 | receptor internalization | 18544533 |
Tgene | NEDD4 | GO:0032801 | receptor catabolic process | 18544533 |
Tgene | NEDD4 | GO:0034765 | regulation of ion transmembrane transport | 17289006 |
Tgene | NEDD4 | GO:0042391 | regulation of membrane potential | 17289006 |
Tgene | NEDD4 | GO:0042921 | glucocorticoid receptor signaling pathway | 8649367 |
Tgene | NEDD4 | GO:0045732 | positive regulation of protein catabolic process | 14973438 |
Tgene | NEDD4 | GO:0046824 | positive regulation of nucleocytoplasmic transport | 17218261 |
Tgene | NEDD4 | GO:0050847 | progesterone receptor signaling pathway | 8649367 |
Tgene | NEDD4 | GO:1901016 | regulation of potassium ion transmembrane transporter activity | 17289006 |
Tgene | NEDD4 | GO:2000650 | negative regulation of sodium ion transmembrane transporter activity | 10642508 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | SARC | TCGA-VT-A80J-01A | MYO5A | chr15 | 52632393 | - | NEDD4 | chr15 | 56216897 | - |
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Fusion ORF Analysis |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000399231 | MYO5A | chr15 | 52632393 | - | ENST00000435532 | NEDD4 | chr15 | 56216897 | - | 9924 | 4483 | 244 | 6948 | 2234 |
ENST00000356338 | MYO5A | chr15 | 52632393 | - | ENST00000435532 | NEDD4 | chr15 | 56216897 | - | 9673 | 4232 | 74 | 6697 | 2207 |
ENST00000358212 | MYO5A | chr15 | 52632393 | - | ENST00000435532 | NEDD4 | chr15 | 56216897 | - | 9680 | 4239 | 0 | 6704 | 2234 |
ENST00000399233 | MYO5A | chr15 | 52632393 | - | ENST00000435532 | NEDD4 | chr15 | 56216897 | - | 9915 | 4474 | 244 | 6939 | 2231 |
ENST00000553916 | MYO5A | chr15 | 52632393 | - | ENST00000435532 | NEDD4 | chr15 | 56216897 | - | 9634 | 4193 | 35 | 6658 | 2207 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000399231 | ENST00000435532 | MYO5A | chr15 | 52632393 | - | NEDD4 | chr15 | 56216897 | - | 0.000530321 | 0.9994697 |
ENST00000356338 | ENST00000435532 | MYO5A | chr15 | 52632393 | - | NEDD4 | chr15 | 56216897 | - | 0.000408005 | 0.999592 |
ENST00000358212 | ENST00000435532 | MYO5A | chr15 | 52632393 | - | NEDD4 | chr15 | 56216897 | - | 0.000582538 | 0.9994174 |
ENST00000399233 | ENST00000435532 | MYO5A | chr15 | 52632393 | - | NEDD4 | chr15 | 56216897 | - | 0.000526094 | 0.99947387 |
ENST00000553916 | ENST00000435532 | MYO5A | chr15 | 52632393 | - | NEDD4 | chr15 | 56216897 | - | 0.000393894 | 0.9996061 |
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Fusion Amino Acid Sequences |
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>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 -------------------------------------------------------------- >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 -------------------------------------------------------------- >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 |
![]() 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. |
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Hgene | Tgene |
MYO5A | NEDD4 |
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}. |
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- 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 | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 914_1237 | 1386.0 | 1829.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 914_1237 | 1413.0 | 1856.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 69_763 | 1386.0 | 1829.0 | Domain | Myosin motor |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 766_788 | 1386.0 | 1829.0 | Domain | IQ 1 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 789_818 | 1386.0 | 1829.0 | Domain | IQ 2 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 814_836 | 1386.0 | 1829.0 | Domain | IQ 3 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 837_861 | 1386.0 | 1829.0 | Domain | IQ 4 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 862_883 | 1386.0 | 1829.0 | Domain | IQ 5 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 885_914 | 1386.0 | 1829.0 | Domain | IQ 6 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 8_60 | 1386.0 | 1829.0 | Domain | Myosin N-terminal SH3-like |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 69_763 | 1413.0 | 1856.0 | Domain | Myosin motor |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 766_788 | 1413.0 | 1856.0 | Domain | IQ 1 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 789_818 | 1413.0 | 1856.0 | Domain | IQ 2 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 814_836 | 1413.0 | 1856.0 | Domain | IQ 3 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 837_861 | 1413.0 | 1856.0 | Domain | IQ 4 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 862_883 | 1413.0 | 1856.0 | Domain | IQ 5 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 885_914 | 1413.0 | 1856.0 | Domain | IQ 6 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 8_60 | 1413.0 | 1856.0 | Domain | Myosin N-terminal SH3-like |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 163_170 | 1386.0 | 1829.0 | Nucleotide binding | ATP |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 163_170 | 1413.0 | 1856.0 | Nucleotide binding | ATP |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 643_665 | 1386.0 | 1829.0 | Region | Actin-binding |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 643_665 | 1413.0 | 1856.0 | Region | Actin-binding |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000338963 | 0 | 22 | 68_215 | 0 | 1248.0 | Compositional bias | Note=Ser-rich | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000506154 | 0 | 25 | 68_215 | 0 | 1304.0 | Compositional bias | Note=Ser-rich | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000508342 | 0 | 25 | 68_215 | 0 | 1320.0 | Compositional bias | Note=Ser-rich | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000338963 | 0 | 22 | 610_643 | 0 | 1248.0 | Domain | WW 1 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000338963 | 0 | 22 | 767_800 | 0 | 1248.0 | Domain | WW 2 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000338963 | 0 | 22 | 840_873 | 0 | 1248.0 | Domain | WW 3 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000338963 | 0 | 22 | 892_925 | 0 | 1248.0 | Domain | WW 4 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000338963 | 0 | 22 | 984_1318 | 0 | 1248.0 | Domain | HECT | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000435532 | 3 | 29 | 610_643 | 79.0 | 901.0 | Domain | WW 1 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000435532 | 3 | 29 | 767_800 | 79.0 | 901.0 | Domain | WW 2 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000435532 | 3 | 29 | 840_873 | 79.0 | 901.0 | Domain | WW 3 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000435532 | 3 | 29 | 892_925 | 79.0 | 901.0 | Domain | WW 4 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000435532 | 3 | 29 | 984_1318 | 79.0 | 901.0 | Domain | HECT | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000506154 | 0 | 25 | 610_643 | 0 | 1304.0 | Domain | WW 1 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000506154 | 0 | 25 | 767_800 | 0 | 1304.0 | Domain | WW 2 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000506154 | 0 | 25 | 840_873 | 0 | 1304.0 | Domain | WW 3 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000506154 | 0 | 25 | 892_925 | 0 | 1304.0 | Domain | WW 4 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000506154 | 0 | 25 | 984_1318 | 0 | 1304.0 | Domain | HECT | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000508342 | 0 | 25 | 610_643 | 0 | 1320.0 | Domain | WW 1 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000508342 | 0 | 25 | 767_800 | 0 | 1320.0 | Domain | WW 2 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000508342 | 0 | 25 | 840_873 | 0 | 1320.0 | Domain | WW 3 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000508342 | 0 | 25 | 892_925 | 0 | 1320.0 | Domain | WW 4 | |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000508342 | 0 | 25 | 984_1318 | 0 | 1320.0 | Domain | HECT |
- 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 | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 1338_1445 | 1386.0 | 1829.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 1338_1445 | 1413.0 | 1856.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000356338 | - | 31 | 40 | 1534_1810 | 1386.0 | 1829.0 | Domain | Dilute |
Hgene | MYO5A | chr15:52632393 | chr15:56216897 | ENST00000399231 | - | 32 | 41 | 1534_1810 | 1413.0 | 1856.0 | Domain | Dilute |
Tgene | NEDD4 | chr15:52632393 | chr15:56216897 | ENST00000435532 | 3 | 29 | 68_215 | 79.0 | 901.0 | Compositional bias | Note=Ser-rich |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
MYO5A | MLPH, 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, |
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Gene | STRING network |
MYO5A | ![]() |
NEDD4 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs to MYO5A-NEDD4 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to MYO5A-NEDD4 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MYO5A | C1836573 | GRISCELLI SYNDROME, TYPE 3 | 2 | GENOMICS_ENGLAND;ORPHANET |
Hgene | MYO5A | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | MYO5A | C0398794 | Hypopigmentation-immunodeficiency disease | 1 | GENOMICS_ENGLAND |
Hgene | MYO5A | C1859194 | GRISCELLI SYNDROME, TYPE 1 | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | MYO5A | C1860157 | Elejalde Disease | 1 | GENOMICS_ENGLAND;ORPHANET |
Hgene | MYO5A | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |