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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:VPS53-MYH2 (FusionGDB2 ID:97813)

Fusion Gene Summary for VPS53-MYH2

check button Fusion gene summary
Fusion gene informationFusion gene name: VPS53-MYH2
Fusion gene ID: 97813
HgeneTgene
Gene symbol

VPS53

MYH2

Gene ID

55275

4620

Gene nameVPS53 subunit of GARP complexmyosin heavy chain 2
SynonymsHCCS1|PCH2E|hVps53L|pp13624IBM3|MYH2A|MYHSA2|MYHas8|MYPOP|MyHC-2A|MyHC-IIa
Cytomap

17p13.3

17p13.1

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 53 homologVPS53, GARP complex subunitmyosin-2fast 2a myosin heavy chaininclusion body myopathy 3, autosomal dominantmyosin heavy chain 2amyosin heavy chain IIamyosin heavy chain, skeletal muscle, adult 2myosin, heavy chain 2, skeletal muscle, adultmyosin, heavy polypeptide 2, skeletal
Modification date2020031320200313
UniProtAcc.

Q9UKX2

Ensembl transtripts involved in fusion geneENST00000437048, ENST00000574029, 
ENST00000576149, ENST00000446250, 
ENST00000291074, ENST00000571805, 
ENST00000401468, 		ENST00000532183, 
ENST00000245503, ENST00000397183, 
Fusion gene scores* DoF score18 X 15 X 14=37804 X 4 X 4=64
# samples 244
** MAII scorelog2(24/3780*10)=-3.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: VPS53 [Title/Abstract] AND MYH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointVPS53(505035)-MYH2(10444014), # samples:3
Anticipated loss of major functional domain due to fusion event.VPS53-MYH2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted 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
TgeneMYH2

GO:0006936

muscle contraction

8145163


check buttonFusion gene breakpoints across VPS53 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across MYH2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4BRCATCGA-D8-A1JM-01AVPS53chr17

505035

-MYH2chr17

10444014

-
ChimerDB4BRCATCGA-D8-A1JM-01AVPS53chr17

505035

-MYH2chr17

10444014

-
ChimerDB4BRCATCGA-D8-A1JM-01AVPS53chr17

505035

-MYH2chr17

10444014

-


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Fusion Gene ORF analysis for VPS53-MYH2

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
Frame-shiftENST00000437048ENST00000532183VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000437048ENST00000245503VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000437048ENST00000397183VPS53chr17

505035

-MYH2chr17

10444014

-
intron-3CDSENST00000574029ENST00000532183VPS53chr17

505035

-MYH2chr17

10444014

-
intron-3CDSENST00000574029ENST00000245503VPS53chr17

505035

-MYH2chr17

10444014

-
intron-3CDSENST00000574029ENST00000397183VPS53chr17

505035

-MYH2chr17

10444014

-
5UTR-3CDSENST00000576149ENST00000532183VPS53chr17

505035

-MYH2chr17

10444014

-
5UTR-3CDSENST00000576149ENST00000245503VPS53chr17

505035

-MYH2chr17

10444014

-
5UTR-3CDSENST00000576149ENST00000397183VPS53chr17

505035

-MYH2chr17

10444014

-
In-frameENST00000446250ENST00000532183VPS53chr17

505035

-MYH2chr17

10444014

-
In-frameENST00000446250ENST00000245503VPS53chr17

505035

-MYH2chr17

10444014

-
In-frameENST00000446250ENST00000397183VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000291074ENST00000532183VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000291074ENST00000245503VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000291074ENST00000397183VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000571805ENST00000532183VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000571805ENST00000245503VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000571805ENST00000397183VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000401468ENST00000532183VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000401468ENST00000245503VPS53chr17

505035

-MYH2chr17

10444014

-
Frame-shiftENST00000401468ENST00000397183VPS53chr17

505035

-MYH2chr17

10444014

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000446250VPS53chr17505035-ENST00000532183MYH2chr1710444014-2818146314652685406
ENST00000446250VPS53chr17505035-ENST00000245503MYH2chr1710444014-65131463146563841639
ENST00000446250VPS53chr17505035-ENST00000397183MYH2chr1710444014-65091463146563841639

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
ENST00000446250ENST00000532183VPS53chr17505035-MYH2chr1710444014-0.0017490920.9982509
ENST00000446250ENST00000245503VPS53chr17505035-MYH2chr1710444014-0.0156084360.98439157
ENST00000446250ENST00000397183VPS53chr17505035-MYH2chr1710444014-0.0155901210.9844098

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Fusion Genomic Features for VPS53-MYH2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for VPS53-MYH2


check button Go to

FGviewer for the breakpoints of chr17:505035-chr17:10444014

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.MYH2

Q9UKX2

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Muscle contraction. Required for cytoskeleton organization (By similarity). {ECO:0000250}.

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
HgeneVPS53chr17:505035chr17:10444014ENST00000291074-111897_138377.0671.0Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:505035chr17:10444014ENST00000437048-122297_138406.0833.0Coiled coilOntology_term=ECO:0000255
HgeneVPS53chr17:505035chr17:10444014ENST00000571805-121997_138406.0700.0Coiled coilOntology_term=ECO:0000255
TgeneMYH2chr17:505035chr17:10444014ENST00000245503940845_1941301.33333333333331942.0Coiled coilOntology_term=ECO:0000255
TgeneMYH2chr17:505035chr17:10444014ENST00000397183940845_1941301.33333333333331942.0Coiled coilOntology_term=ECO:0000255
TgeneMYH2chr17:505035chr17:10444014ENST00000245503940787_816301.33333333333331942.0DomainIQ
TgeneMYH2chr17:505035chr17:10444014ENST00000397183940787_816301.33333333333331942.0DomainIQ
TgeneMYH2chr17:505035chr17:10444014ENST00000245503940661_683301.33333333333331942.0RegionActin-binding
TgeneMYH2chr17:505035chr17:10444014ENST00000245503940763_777301.33333333333331942.0RegionActin-binding
TgeneMYH2chr17:505035chr17:10444014ENST00000397183940661_683301.33333333333331942.0RegionActin-binding
TgeneMYH2chr17:505035chr17:10444014ENST00000397183940763_777301.33333333333331942.0RegionActin-binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMYH2chr17:505035chr17:10444014ENST0000024550394033_82301.33333333333331942.0DomainMyosin N-terminal SH3-like
TgeneMYH2chr17:505035chr17:10444014ENST0000024550394086_784301.33333333333331942.0DomainMyosin motor
TgeneMYH2chr17:505035chr17:10444014ENST0000039718394033_82301.33333333333331942.0DomainMyosin N-terminal SH3-like
TgeneMYH2chr17:505035chr17:10444014ENST0000039718394086_784301.33333333333331942.0DomainMyosin motor
TgeneMYH2chr17:505035chr17:10444014ENST00000245503940179_186301.33333333333331942.0Nucleotide bindingATP
TgeneMYH2chr17:505035chr17:10444014ENST00000397183940179_186301.33333333333331942.0Nucleotide bindingATP


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Fusion Gene Sequence for VPS53-MYH2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000446250_ENST00000532183_TCGA-D8-A1JM-01A_VPS53_chr17_505035_-_MYH2_chr17_10444014_length(transcript)=2818nt_BP=1463nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGCGCTTGAAGAGGCTCAG
AAAGCTATCCAACAACTCTTTGGCAAAATCAAAGATATCAAAGACAAAGCTGAAAAATCAGAGCAAATGGTGAAAGAAATCACCCGTGAT
ATTAAGCAATTAGATCACGCCAAACGCCACCTGACCACCTCAATCACCACACTGAACCACCTGCACATGCTGGCAGGAGGTGTCGACTCC
CTCGAAGCCATGACCAGGCGAAGACAATACGGAGAAGTTGCTAATCTCCTTCAGGGTGTGATGAATGTCCTGGAGCACTTCCACAAGTAT
ATGGGGATTCCGCAGATCCGGCAGCTTTCCGAAAGGAAACCCAAAACACTGCAGCTGCATGGATTGAACTGGACGTGATGTGAAATGAAA
TAAGCCAGACACGGGAAGACAGATTCCTCATGTTCTCACTCATAGTGAAGGCTGCACAGACTGAGTTAGGACAGCAAATCCTGGCAGATT
TTGAAGAAGCGTTTCCTTCCCAGGGCACCAAGAGACCAGGAGGACCCAGCAATGTTCTACGAGATGCATGTCTGGTTGCTAATATTCTAG
ATCCCAGGATCAAACAGGAAATCATCAAAAAGTTTATTAAACAGCATCTGTCAGAGTATCTGGTACTTTTTCAAGAAAACCAAGATGTTG
CCTGGCTGGACAAAATCGACAGACGCTATGCCTGGATAAAACGCCAGCTTGTGGACTATGAGGAGAAATACGGCCGCATGTTTCCACGTG
AGTGGTGCATGGCTGAGAGGATTGCGGTGGAATTTTGCCATGTGACAAGGGCAGAACTTGCCAAGATTATGCGTACCAGAGCGAAGGAAA
TTGAAGTGAAATTGCTTCTTTTTGCTATTCAAAGAACAACTAACTTTGAGGGGTTTCTTGCAAAACGCTTCTCCGGCTGCACCCTGACCG
ATGGGACCCTGAAAAAGCTTGAGTCTCCACCCCCATCTACCAATCCCTTCCTGGAAGATGAGCCAACACCAGAGATGGAGGAACTGGCAA
CGGAGAAAGGAGATTTAGATCAAAAATGCTTCTGATTACCACGAACCCATATGATTACCCATTTGTCAGTCAAGGGGAGATCAGTGTGGC
CAGCATCGATGATCAGGAAGAACTGATGGCCACAGATAGTGCTATTGATATTTTGGGCTTTACTAATGAAGAAAAGGTCTCCATTTACAA
GCTCACGGGGGCTGTGATGCATTATGGGAACCTAAAATTTAAGCAAAAGCAGCGTGAGGAGCAAGCAGAGCCAGATGGCACAGAAGTTGC
TGACAAGGCGGCCTACCTCCAGAGTCTGAACTCTGCAGATCTGCTCAAAGCTCTCTGCTACCCCAGGGTCAAGGTCGGCAATGAGTATGT
CACCAAAGGCCAGACTGTAGAACAGGTGTCCAACGCAGTAGGTGCTCTGGCCAAAGCCGTCTACGAGAAGATGTTCCTGTGGATGGTTGC
CCGCATCAACCAGCAGCTGGACACCAAGCAGCCCAGGCAGTACTTCATCGGGGTCTTGGACATTGCTGGTTTTGAGATTTTTGATTTCAA
CAGCCTGGAGCAGCTGTGCATCAACTTCACCAATGAGAAACTGCAACAGTTTTTCAACCACCACATGTTCGTGCTGGAGCAGGAGGAGTA
CAAGAAGGAAGGCATCGAGTGGACGTTCATCGACTTCGGGATGGACCTGGCTGCCTGCATCGAGCTCATCGAGAAGCCTATGGGCATCTT
CTCCATCCTGGAAGAGGAGTGCATGTTCCCTAAGGCAACAGACACCTCCTTCAAGAACAAGCTGTATGACCAGCACCTGGGCAAGTCTGC
CAACTTCCAGAAGCCCAAGGTGGTCAAAGGCAAGGCCGAGGCCCACTTCGCTCTGATTCACTATGCTGGTGTTGTGGACTACAACATTAC
TGGCTGGCTGGAGAAGAACAAGGACCCCCTGAATGAGACCGTGGTTGGACTGTACCAGAAGTCTGCAATGAAAACTCTAGCTCAGCTCTT
CTCTGGGGCTCAAACTGCTGAAGGAGAGGGAGCTGGTGGAGGGGCCAAGAAAGGTGGTAAGAAGAAGGGCTCTTCTTTCCAGACAGTGTC
TGCCCTTTTCAGAGAGGAACAATCCAACACCAATCTAGCTAAATTCCGCAAGCTCCAGCATGAGCTGGAGGAGGCCGAGGAACGGGCTGA
CATTGCTGAGTCCCAGGTGAACAAACTGCGGGTGAAGAGCCGGGAGGTTCACACAAAAGTCATAAGTGAAGAGTGATCATGTCCTGATGC
CATGGAATGACTGAAGACAGGCACAAAATGTGACATCTTTGGTCATTTCCCTCTGTAATTATTGTGTATTCTACCCTGTTGCAAAGGAAA

>In-frame_ENST00000446250_ENST00000532183_TCGA-D8-A1JM-01A_VPS53_chr17_505035_-_MYH2_chr17_10444014_length(amino acids)=406AA_start in transcript=1465_stop in transcript=2685
MLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKVSIYKLTGAVMHYGNLKFKQKQREEQAEPDGTEVADKAAYLQS
LNSADLLKALCYPRVKVGNEYVTKGQTVEQVSNAVGALAKAVYEKMFLWMVARINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSANFQKPKVV
KGKAEAHFALIHYAGVVDYNITGWLEKNKDPLNETVVGLYQKSAMKTLAQLFSGAQTAEGEGAGGGAKKGGKKKGSSFQTVSALFREEQS

--------------------------------------------------------------
>In-frame_ENST00000446250_ENST00000245503_TCGA-D8-A1JM-01A_VPS53_chr17_505035_-_MYH2_chr17_10444014_length(transcript)=6513nt_BP=1463nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGCGCTTGAAGAGGCTCAG
AAAGCTATCCAACAACTCTTTGGCAAAATCAAAGATATCAAAGACAAAGCTGAAAAATCAGAGCAAATGGTGAAAGAAATCACCCGTGAT
ATTAAGCAATTAGATCACGCCAAACGCCACCTGACCACCTCAATCACCACACTGAACCACCTGCACATGCTGGCAGGAGGTGTCGACTCC
CTCGAAGCCATGACCAGGCGAAGACAATACGGAGAAGTTGCTAATCTCCTTCAGGGTGTGATGAATGTCCTGGAGCACTTCCACAAGTAT
ATGGGGATTCCGCAGATCCGGCAGCTTTCCGAAAGGAAACCCAAAACACTGCAGCTGCATGGATTGAACTGGACGTGATGTGAAATGAAA
TAAGCCAGACACGGGAAGACAGATTCCTCATGTTCTCACTCATAGTGAAGGCTGCACAGACTGAGTTAGGACAGCAAATCCTGGCAGATT
TTGAAGAAGCGTTTCCTTCCCAGGGCACCAAGAGACCAGGAGGACCCAGCAATGTTCTACGAGATGCATGTCTGGTTGCTAATATTCTAG
ATCCCAGGATCAAACAGGAAATCATCAAAAAGTTTATTAAACAGCATCTGTCAGAGTATCTGGTACTTTTTCAAGAAAACCAAGATGTTG
CCTGGCTGGACAAAATCGACAGACGCTATGCCTGGATAAAACGCCAGCTTGTGGACTATGAGGAGAAATACGGCCGCATGTTTCCACGTG
AGTGGTGCATGGCTGAGAGGATTGCGGTGGAATTTTGCCATGTGACAAGGGCAGAACTTGCCAAGATTATGCGTACCAGAGCGAAGGAAA
TTGAAGTGAAATTGCTTCTTTTTGCTATTCAAAGAACAACTAACTTTGAGGGGTTTCTTGCAAAACGCTTCTCCGGCTGCACCCTGACCG
ATGGGACCCTGAAAAAGCTTGAGTCTCCACCCCCATCTACCAATCCCTTCCTGGAAGATGAGCCAACACCAGAGATGGAGGAACTGGCAA
CGGAGAAAGGAGATTTAGATCAAAAATGCTTCTGATTACCACGAACCCATATGATTACCCATTTGTCAGTCAAGGGGAGATCAGTGTGGC
CAGCATCGATGATCAGGAAGAACTGATGGCCACAGATAGTGCTATTGATATTTTGGGCTTTACTAATGAAGAAAAGGTCTCCATTTACAA
GCTCACGGGGGCTGTGATGCATTATGGGAACCTAAAATTTAAGCAAAAGCAGCGTGAGGAGCAAGCAGAGCCAGATGGCACAGAAGTTGC
TGACAAGGCGGCCTACCTCCAGAGTCTGAACTCTGCAGATCTGCTCAAAGCTCTCTGCTACCCCAGGGTCAAGGTCGGCAATGAGTATGT
CACCAAAGGCCAGACTGTAGAACAGGTGTCCAACGCAGTAGGTGCTCTGGCCAAAGCCGTCTACGAGAAGATGTTCCTGTGGATGGTTGC
CCGCATCAACCAGCAGCTGGACACCAAGCAGCCCAGGCAGTACTTCATCGGGGTCTTGGACATTGCTGGTTTTGAGATTTTTGATTTCAA
CAGCCTGGAGCAGCTGTGCATCAACTTCACCAATGAGAAACTGCAACAGTTTTTCAACCACCACATGTTCGTGCTGGAGCAGGAGGAGTA
CAAGAAGGAAGGCATCGAGTGGACGTTCATCGACTTCGGGATGGACCTGGCTGCCTGCATCGAGCTCATCGAGAAGCCTATGGGCATCTT
CTCCATCCTGGAAGAGGAGTGCATGTTCCCTAAGGCAACAGACACCTCCTTCAAGAACAAGCTGTATGACCAGCACCTGGGCAAGTCTGC
CAACTTCCAGAAGCCCAAGGTGGTCAAAGGCAAGGCCGAGGCCCACTTCGCTCTGATTCACTATGCTGGTGTTGTGGACTACAACATTAC
TGGCTGGCTGGAGAAGAACAAGGACCCCCTGAATGAGACCGTGGTTGGACTGTACCAGAAGTCTGCAATGAAAACTCTAGCTCAGCTCTT
CTCTGGGGCTCAAACTGCTGAAGGAGAGGGAGCTGGTGGAGGGGCCAAGAAAGGTGGTAAGAAGAAGGGCTCTTCTTTCCAGACAGTGTC
TGCCCTTTTCAGAGAGAATTTGAACAAGCTGATGACCAACCTCAGGAGTACCCATCCTCACTTTGTGAGGTGTATCATCCCCAATGAGAC
AAAAACTCCTGGTGCCATGGAGCATGAGCTTGTCCTCCACCAGCTGAGGTGTAACGGTGTGCTGGAAGGCATCCGCATCTGTAGGAAAGG
ATTTCCAAGCAGAATCCTTTATGCAGACTTCAAACAGAGATACAAGGTATTAAATGCAAGTGCAATCCCTGAAGGGCAATTCATTGATAG
CAAGAAGGCCTCTGAGAAGCTCCTTGCATCCATCGACATTGACCACACCCAGTATAAATTTGGGCACACCAAGGTCTTTTTCAAAGCTGG
TCTTCTGGGGCTCCTAGAGGAGATGCGAGATGACAAGCTGGCCCAGCTGATTACCCGAACCCAGGCCAGGTGCAGAGGGTTCTTGGCAAG
AGTGGAGTACCAGAGGATGGTGGAGAGAAGGGAGGCCATCTTCTGTATCCAGTACAATATCAGATCCTTCATGAATGTCAAGCACTGGCC
CTGGATGAAACTCTTCTTCAAGATCAAGCCTCTGTTGAAGAGTGCAGAAACTGAGAAGGAGATGGCCACCATGAAGGAAGAATTTCAGAA
AATTAAAGACGAACTTGCCAAGTCAGAGGCAAAAAGGAAGGAACTGGAAGAAAAGATGGTGACGCTGTTGAAAGAAAAAAATGACTTGCA
GCTCCAAGTTCAGGCTGAAGCCGAAGGCTTGGCTGATGCAGAGGAAAGGTGTGACCAGCTAATCAAAACCAAAATCCAGCTAGAAGCCAA
AATCAAAGAGGTGACTGAGAGAGCTGAGGATGAGGAAGAGATCAATGCTGAGCTGACAGCCAAGAAGAGGAAACTGGAGGATGAATGTTC
AGAACTCAAGAAAGACATTGATGACCTTGAGCTGACACTGGCCAAGGTTGAGAAGGAGAAACATGCCACAGAAAACAAGGTGAAAAACCT
CACAGAAGAGATGGCAGGTCTGGATGAAACCATTGCTAAGCTGACCAAGGAGAAGAAGGCTCTCCAGGAGGCCCACCAGCAGACCCTGGA
TGACCTGCAGGCAGAGGAGGACAAAGTCAACACCCTGACCAAAGCTAAAATCAAACTTGAACAACAAGTGGATGATCTTGAAGGGTCCTT
GGAGCAAGAAAAGAAACTTCGCATGGACCTAGAAAGGGCTAAGAGGAAACTTGAGGGTGACTTGAAGTTGGCCCAAGAATCCATAATGGA
CATTGAAAATGAGAAACAGCAACTTGATGAAAAGCTCAAAAAGAAAGAGTTTGAAATCAGCAATCTGCAAAGCAAGATTGAAGATGAACA
GGCACTTGGCATTCAATTGCAGAAGAAAATTAAAGAATTGCAAGCCCGCATTGAGGAGCTGGAGGAGGAAATCGAGGCAGAGCGGGCCTC
CCGGGCCAAAGCAGAGAAGCAGCGCTCTGACCTCTCCCGGGAGCTGGAGGAGATCAGCGAGAGGCTGGAAGAAGCCGGTGGGGCCACTTC
AGCCCAGATTGAGATGAACAAGAAGCGGGAGGCTGAGTTCCAGAAAATGCGCAGGGACCTGGAGGAGGCCACCCTACAGCATGAAGCCAC
AGCGGCCACCCTGAGGAAGAAGCATGCAGATAGTGTGGCCGAGCTTGGGGAGCAGATTGACAACCTGCAGCGAGTGAAGCAGAAGCTGGA
GAAGGAGAAGAGTGAGATGAAGATGGAGATTGATGACCTTGCTAGTAATGTAGAAACGGTCTCCAAAGCCAAGGGAAACCTAGAGAAAAT
GTGCCGGACTCTAGAGGACCAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACTGCGCAGAGGGG
GCGCCTGCAGACTGAATCTGGTGAGTTTTCACGCCAGCTTGATGAAAAGGAAGCTCTGGTGTCTCAGTTATCAAGAGGCAAACAAGCCTT
TACTCAACAGATTGAAGAATTAAAGAGGCAACTTGAAGAGGAGATAAAAGCCAAGAACGCCCTGGCGCATGCCCTGCAGTCTTCCCGCCA
CGACTGTGACCTGCTGCGGGAACAGTATGAGGAGGAGCAGGAATCCAAGGCCGAGCTGCAGAGAGCACTGTCCAAGGCCAACACCGAGGT
TGCCCAATGGAGGACCAAATACGAGACGGACGCCATCCAGCGCACAGAGGAGCTGGAGGAGGCCAAGAAGAAGCTGGCCCAGCGGCTGCA
GGCAGCTGAGGAACATGTAGAAGCTGTGAACGCCAAATGTGCTTCCCTCGAAAAGACGAAGCAGCGGCTGCAGAATGAGGTCGAGGACCT
CATGCTTGATGTGGAGAGGACAAATGCCGCCTGTGCCGCCCTTGACAAAAAGCAAAGGAACTTCGATAAGATCCTGGCAGAATGGAAACA
GAAATGTGAGGAAACGCATGCTGAGCTTGAGGCCTCCCAGAAGGAGGCCCGTTCCCTTGGCACTGAGCTGTTCAAGATAAAGAATGCCTA
TGAGGAATCTTTGGATCAGCTAGAAACCCTGAAGCGAGAGAACAAAAACTTACAGCAGGAGATTTCTGACCTCACGGAACAGATTGCAGA
AGGAGGGAAACGTATCCATGAACTGGAGAAAATAAAGAAACAAGTGGAACAAGAAAAGTGTGAACTTCAGGCTGCTTTAGAAGAAGCAGA
GGCATCTCTTGAACATGAAGAGGGAAAGATCCTGCGCATCCAGCTTGAGTTGAACCAAGTCAAGTCTGAGGTTGATAGGAAAATTGCTGA
AAAAGATGAGGAAATTGACCAGCTGAAGAGAAACCACATTAGAATCGTGGAGTCCATGCAGAGCACGCTGGATGCTGAGATCAGGAGTAG
GAATGATGCCATTAGGCTCAAGAAGAAGATGGAGGGAGACCTCAATGAAATGGAAATCCAGCTGAACCATGCCAACCGCATGGCTGCTGA
GGCCCTGAGGAACTACAGGAACACCCAAGGCATCCTCAAGGATACCCAGATCCACCTGGATGATGCTCTCCGGAGCCAGGAGGACCTGAA
GGAACAGCTGGCCATGGTGGAGCGCAGAGCCAACCTGCTGCAGGCTGAGATCGAGGAGCTGCGGGCCACTCTGGAACAGACAGAGAGGAG
CAGAAAAATCGCAGAACAGGAGCTCCTGGATGCCAGTGAGCGTGTTCAGCTACTGCACACCCAGAACACCAGCCTGATCAACACCAAGAA
GAAGCTGGAGACAGATATTTCCCAAATGCAAGGAGAGATGGAGGACATTCTCCAGGAAGCCCGCAATGCAGAAGAAAAGGCCAAGAAGGC
CATCACTGATGCCGCCATGATGGCTGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTGGAGCGGATGAAGAAGAACATGGAGCA
GACCGTGAAGGATCTGCAGCTCCGTCTGGATGAGGCTGAGCAGCTGGCCCTGAAGGGTGGGAAGAAGCAGATCCAGAAACTGGAGGCCAG
GGTACGGGAGCTGGAAGGAGAGGTTGAGAGTGAGCAAAAGCGTAATGCTGAGGCTGTCAAAGGTCTGCGCAAACATGAGAGGCGAGTGAA
GGAACTCACTTACCAGACGGAAGAAGATAGAAAGAATATTCTCAGGCTTCAAGATTTGGTAGATAAACTTCAGGCAAAAGTGAAATCTTA
TAAGAGACAAGCTGAGGAGGCTGAGGAACAATCCAACACCAATCTAGCTAAATTCCGCAAGCTCCAGCATGAGCTGGAGGAGGCCGAGGA
ACGGGCTGACATTGCTGAGTCCCAGGTGAACAAACTGCGGGTGAAGAGCCGGGAGGTTCACACAAAAGTCATAAGTGAAGAGTGATCATG
TCCTGATGCCATGGAATGACTGAAGACAGGCACAAAATGTGACATCTTTGGTCATTTCCCTCTGTAATTATTGTGTATTCTACCCTGTTG

>In-frame_ENST00000446250_ENST00000245503_TCGA-D8-A1JM-01A_VPS53_chr17_505035_-_MYH2_chr17_10444014_length(amino acids)=1639AA_start in transcript=1465_stop in transcript=6384
MLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKVSIYKLTGAVMHYGNLKFKQKQREEQAEPDGTEVADKAAYLQS
LNSADLLKALCYPRVKVGNEYVTKGQTVEQVSNAVGALAKAVYEKMFLWMVARINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSANFQKPKVV
KGKAEAHFALIHYAGVVDYNITGWLEKNKDPLNETVVGLYQKSAMKTLAQLFSGAQTAEGEGAGGGAKKGGKKKGSSFQTVSALFRENLN
KLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEKLL
ASIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDDKLAQLITRTQARCRGFLARVEYQRMVERREAIFCIQYNIRSFMNVKHWPWMKLFFKI
KPLLKSAETEKEMATMKEEFQKIKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQAEAEGLADAEERCDQLIKTKIQLEAKIKEVTERA
EDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDK
VNTLTKAKIKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESIMDIENEKQQLDEKLKKKEFEISNLQSKIEDEQALGIQLQK
KIKELQARIEELEEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKH
ADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNVETVSKAKGNLEKMCRTLEDQLSELKSKEEEQQRLINDLTAQRGRLQTESGE
FSRQLDEKEALVSQLSRGKQAFTQQIEELKRQLEEEIKAKNALAHALQSSRHDCDLLREQYEEEQESKAELQRALSKANTEVAQWRTKYE
TDAIQRTEELEEAKKKLAQRLQAAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERTNAACAALDKKQRNFDKILAEWKQKCEETHAE
LEASQKEARSLGTELFKIKNAYEESLDQLETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKCELQAALEEAEASLEHEEG
KILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHIRIVESMQSTLDAEIRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYRNT
QGILKDTQIHLDDALRSQEDLKEQLAMVERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQ
MQGEMEDILQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTVKDLQLRLDEAEQLALKGGKKQIQKLEARVRELEGEV
ESEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNTNLAKFRKLQHELEEAEERADIAESQ

--------------------------------------------------------------
>In-frame_ENST00000446250_ENST00000397183_TCGA-D8-A1JM-01A_VPS53_chr17_505035_-_MYH2_chr17_10444014_length(transcript)=6509nt_BP=1463nt
GAAGTGCCGGAGCGGCTGACAGAGCGGCTGACGGAGCCGGGCTCACCAGGTCGCTGCCGCGAGGGAGTTGCTGTGCTGGGGCCTGGGTGG
CGGCTGGAGGCCTGAGTTGGGCTCGCGGCGGGGGTCGGCAGGGGGCCGGGTGGCGGAATGATGGAGGAGGAGGAACTGGAGTTCGTGGAG
GAGCTGGAAGCCGTGCTGCAGCTCACGCCCGAGGTGCAGCTGGCCATCGAGCAGGTGTTTCCAAGCCAGGACCCTCTAGATCGAGCAGAT
TTCAATGCTGTTGAGTATATCAATACCCTGTTCCCAACCGAGCAATCTCTGGCGAACATAGACGAAGTCGTGAACAAAATTAGGCTGAAA
ATAAGGAGACTGGATGACAATATTCGAACTGTTGTAAGAGGTCAGACGAACGTGGGGCAGGATGGACGGCAAGCGCTTGAAGAGGCTCAG
AAAGCTATCCAACAACTCTTTGGCAAAATCAAAGATATCAAAGACAAAGCTGAAAAATCAGAGCAAATGGTGAAAGAAATCACCCGTGAT
ATTAAGCAATTAGATCACGCCAAACGCCACCTGACCACCTCAATCACCACACTGAACCACCTGCACATGCTGGCAGGAGGTGTCGACTCC
CTCGAAGCCATGACCAGGCGAAGACAATACGGAGAAGTTGCTAATCTCCTTCAGGGTGTGATGAATGTCCTGGAGCACTTCCACAAGTAT
ATGGGGATTCCGCAGATCCGGCAGCTTTCCGAAAGGAAACCCAAAACACTGCAGCTGCATGGATTGAACTGGACGTGATGTGAAATGAAA
TAAGCCAGACACGGGAAGACAGATTCCTCATGTTCTCACTCATAGTGAAGGCTGCACAGACTGAGTTAGGACAGCAAATCCTGGCAGATT
TTGAAGAAGCGTTTCCTTCCCAGGGCACCAAGAGACCAGGAGGACCCAGCAATGTTCTACGAGATGCATGTCTGGTTGCTAATATTCTAG
ATCCCAGGATCAAACAGGAAATCATCAAAAAGTTTATTAAACAGCATCTGTCAGAGTATCTGGTACTTTTTCAAGAAAACCAAGATGTTG
CCTGGCTGGACAAAATCGACAGACGCTATGCCTGGATAAAACGCCAGCTTGTGGACTATGAGGAGAAATACGGCCGCATGTTTCCACGTG
AGTGGTGCATGGCTGAGAGGATTGCGGTGGAATTTTGCCATGTGACAAGGGCAGAACTTGCCAAGATTATGCGTACCAGAGCGAAGGAAA
TTGAAGTGAAATTGCTTCTTTTTGCTATTCAAAGAACAACTAACTTTGAGGGGTTTCTTGCAAAACGCTTCTCCGGCTGCACCCTGACCG
ATGGGACCCTGAAAAAGCTTGAGTCTCCACCCCCATCTACCAATCCCTTCCTGGAAGATGAGCCAACACCAGAGATGGAGGAACTGGCAA
CGGAGAAAGGAGATTTAGATCAAAAATGCTTCTGATTACCACGAACCCATATGATTACCCATTTGTCAGTCAAGGGGAGATCAGTGTGGC
CAGCATCGATGATCAGGAAGAACTGATGGCCACAGATAGTGCTATTGATATTTTGGGCTTTACTAATGAAGAAAAGGTCTCCATTTACAA
GCTCACGGGGGCTGTGATGCATTATGGGAACCTAAAATTTAAGCAAAAGCAGCGTGAGGAGCAAGCAGAGCCAGATGGCACAGAAGTTGC
TGACAAGGCGGCCTACCTCCAGAGTCTGAACTCTGCAGATCTGCTCAAAGCTCTCTGCTACCCCAGGGTCAAGGTCGGCAATGAGTATGT
CACCAAAGGCCAGACTGTAGAACAGGTGTCCAACGCAGTAGGTGCTCTGGCCAAAGCCGTCTACGAGAAGATGTTCCTGTGGATGGTTGC
CCGCATCAACCAGCAGCTGGACACCAAGCAGCCCAGGCAGTACTTCATCGGGGTCTTGGACATTGCTGGTTTTGAGATTTTTGATTTCAA
CAGCCTGGAGCAGCTGTGCATCAACTTCACCAATGAGAAACTGCAACAGTTTTTCAACCACCACATGTTCGTGCTGGAGCAGGAGGAGTA
CAAGAAGGAAGGCATCGAGTGGACGTTCATCGACTTCGGGATGGACCTGGCTGCCTGCATCGAGCTCATCGAGAAGCCTATGGGCATCTT
CTCCATCCTGGAAGAGGAGTGCATGTTCCCTAAGGCAACAGACACCTCCTTCAAGAACAAGCTGTATGACCAGCACCTGGGCAAGTCTGC
CAACTTCCAGAAGCCCAAGGTGGTCAAAGGCAAGGCCGAGGCCCACTTCGCTCTGATTCACTATGCTGGTGTTGTGGACTACAACATTAC
TGGCTGGCTGGAGAAGAACAAGGACCCCCTGAATGAGACCGTGGTTGGACTGTACCAGAAGTCTGCAATGAAAACTCTAGCTCAGCTCTT
CTCTGGGGCTCAAACTGCTGAAGGAGAGGGAGCTGGTGGAGGGGCCAAGAAAGGTGGTAAGAAGAAGGGCTCTTCTTTCCAGACAGTGTC
TGCCCTTTTCAGAGAGAATTTGAACAAGCTGATGACCAACCTCAGGAGTACCCATCCTCACTTTGTGAGGTGTATCATCCCCAATGAGAC
AAAAACTCCTGGTGCCATGGAGCATGAGCTTGTCCTCCACCAGCTGAGGTGTAACGGTGTGCTGGAAGGCATCCGCATCTGTAGGAAAGG
ATTTCCAAGCAGAATCCTTTATGCAGACTTCAAACAGAGATACAAGGTATTAAATGCAAGTGCAATCCCTGAAGGGCAATTCATTGATAG
CAAGAAGGCCTCTGAGAAGCTCCTTGCATCCATCGACATTGACCACACCCAGTATAAATTTGGGCACACCAAGGTCTTTTTCAAAGCTGG
TCTTCTGGGGCTCCTAGAGGAGATGCGAGATGACAAGCTGGCCCAGCTGATTACCCGAACCCAGGCCAGGTGCAGAGGGTTCTTGGCAAG
AGTGGAGTACCAGAGGATGGTGGAGAGAAGGGAGGCCATCTTCTGTATCCAGTACAATATCAGATCCTTCATGAATGTCAAGCACTGGCC
CTGGATGAAACTCTTCTTCAAGATCAAGCCTCTGTTGAAGAGTGCAGAAACTGAGAAGGAGATGGCCACCATGAAGGAAGAATTTCAGAA
AATTAAAGACGAACTTGCCAAGTCAGAGGCAAAAAGGAAGGAACTGGAAGAAAAGATGGTGACGCTGTTGAAAGAAAAAAATGACTTGCA
GCTCCAAGTTCAGGCTGAAGCCGAAGGCTTGGCTGATGCAGAGGAAAGGTGTGACCAGCTAATCAAAACCAAAATCCAGCTAGAAGCCAA
AATCAAAGAGGTGACTGAGAGAGCTGAGGATGAGGAAGAGATCAATGCTGAGCTGACAGCCAAGAAGAGGAAACTGGAGGATGAATGTTC
AGAACTCAAGAAAGACATTGATGACCTTGAGCTGACACTGGCCAAGGTTGAGAAGGAGAAACATGCCACAGAAAACAAGGTGAAAAACCT
CACAGAAGAGATGGCAGGTCTGGATGAAACCATTGCTAAGCTGACCAAGGAGAAGAAGGCTCTCCAGGAGGCCCACCAGCAGACCCTGGA
TGACCTGCAGGCAGAGGAGGACAAAGTCAACACCCTGACCAAAGCTAAAATCAAACTTGAACAACAAGTGGATGATCTTGAAGGGTCCTT
GGAGCAAGAAAAGAAACTTCGCATGGACCTAGAAAGGGCTAAGAGGAAACTTGAGGGTGACTTGAAGTTGGCCCAAGAATCCATAATGGA
CATTGAAAATGAGAAACAGCAACTTGATGAAAAGCTCAAAAAGAAAGAGTTTGAAATCAGCAATCTGCAAAGCAAGATTGAAGATGAACA
GGCACTTGGCATTCAATTGCAGAAGAAAATTAAAGAATTGCAAGCCCGCATTGAGGAGCTGGAGGAGGAAATCGAGGCAGAGCGGGCCTC
CCGGGCCAAAGCAGAGAAGCAGCGCTCTGACCTCTCCCGGGAGCTGGAGGAGATCAGCGAGAGGCTGGAAGAAGCCGGTGGGGCCACTTC
AGCCCAGATTGAGATGAACAAGAAGCGGGAGGCTGAGTTCCAGAAAATGCGCAGGGACCTGGAGGAGGCCACCCTACAGCATGAAGCCAC
AGCGGCCACCCTGAGGAAGAAGCATGCAGATAGTGTGGCCGAGCTTGGGGAGCAGATTGACAACCTGCAGCGAGTGAAGCAGAAGCTGGA
GAAGGAGAAGAGTGAGATGAAGATGGAGATTGATGACCTTGCTAGTAATGTAGAAACGGTCTCCAAAGCCAAGGGAAACCTAGAGAAAAT
GTGCCGGACTCTAGAGGACCAACTGAGTGAACTGAAATCAAAGGAAGAGGAGCAGCAGCGGCTGATCAATGACCTGACTGCGCAGAGGGG
GCGCCTGCAGACTGAATCTGGTGAGTTTTCACGCCAGCTTGATGAAAAGGAAGCTCTGGTGTCTCAGTTATCAAGAGGCAAACAAGCCTT
TACTCAACAGATTGAAGAATTAAAGAGGCAACTTGAAGAGGAGATAAAAGCCAAGAACGCCCTGGCGCATGCCCTGCAGTCTTCCCGCCA
CGACTGTGACCTGCTGCGGGAACAGTATGAGGAGGAGCAGGAATCCAAGGCCGAGCTGCAGAGAGCACTGTCCAAGGCCAACACCGAGGT
TGCCCAATGGAGGACCAAATACGAGACGGACGCCATCCAGCGCACAGAGGAGCTGGAGGAGGCCAAGAAGAAGCTGGCCCAGCGGCTGCA
GGCAGCTGAGGAACATGTAGAAGCTGTGAACGCCAAATGTGCTTCCCTCGAAAAGACGAAGCAGCGGCTGCAGAATGAGGTCGAGGACCT
CATGCTTGATGTGGAGAGGACAAATGCCGCCTGTGCCGCCCTTGACAAAAAGCAAAGGAACTTCGATAAGATCCTGGCAGAATGGAAACA
GAAATGTGAGGAAACGCATGCTGAGCTTGAGGCCTCCCAGAAGGAGGCCCGTTCCCTTGGCACTGAGCTGTTCAAGATAAAGAATGCCTA
TGAGGAATCTTTGGATCAGCTAGAAACCCTGAAGCGAGAGAACAAAAACTTACAGCAGGAGATTTCTGACCTCACGGAACAGATTGCAGA
AGGAGGGAAACGTATCCATGAACTGGAGAAAATAAAGAAACAAGTGGAACAAGAAAAGTGTGAACTTCAGGCTGCTTTAGAAGAAGCAGA
GGCATCTCTTGAACATGAAGAGGGAAAGATCCTGCGCATCCAGCTTGAGTTGAACCAAGTCAAGTCTGAGGTTGATAGGAAAATTGCTGA
AAAAGATGAGGAAATTGACCAGCTGAAGAGAAACCACATTAGAATCGTGGAGTCCATGCAGAGCACGCTGGATGCTGAGATCAGGAGTAG
GAATGATGCCATTAGGCTCAAGAAGAAGATGGAGGGAGACCTCAATGAAATGGAAATCCAGCTGAACCATGCCAACCGCATGGCTGCTGA
GGCCCTGAGGAACTACAGGAACACCCAAGGCATCCTCAAGGATACCCAGATCCACCTGGATGATGCTCTCCGGAGCCAGGAGGACCTGAA
GGAACAGCTGGCCATGGTGGAGCGCAGAGCCAACCTGCTGCAGGCTGAGATCGAGGAGCTGCGGGCCACTCTGGAACAGACAGAGAGGAG
CAGAAAAATCGCAGAACAGGAGCTCCTGGATGCCAGTGAGCGTGTTCAGCTACTGCACACCCAGAACACCAGCCTGATCAACACCAAGAA
GAAGCTGGAGACAGATATTTCCCAAATGCAAGGAGAGATGGAGGACATTCTCCAGGAAGCCCGCAATGCAGAAGAAAAGGCCAAGAAGGC
CATCACTGATGCCGCCATGATGGCTGAGGAGCTGAAGAAGGAGCAGGACACCAGCGCCCACCTGGAGCGGATGAAGAAGAACATGGAGCA
GACCGTGAAGGATCTGCAGCTCCGTCTGGATGAGGCTGAGCAGCTGGCCCTGAAGGGTGGGAAGAAGCAGATCCAGAAACTGGAGGCCAG
GGTACGGGAGCTGGAAGGAGAGGTTGAGAGTGAGCAAAAGCGTAATGCTGAGGCTGTCAAAGGTCTGCGCAAACATGAGAGGCGAGTGAA
GGAACTCACTTACCAGACGGAAGAAGATAGAAAGAATATTCTCAGGCTTCAAGATTTGGTAGATAAACTTCAGGCAAAAGTGAAATCTTA
TAAGAGACAAGCTGAGGAGGCTGAGGAACAATCCAACACCAATCTAGCTAAATTCCGCAAGCTCCAGCATGAGCTGGAGGAGGCCGAGGA
ACGGGCTGACATTGCTGAGTCCCAGGTGAACAAACTGCGGGTGAAGAGCCGGGAGGTTCACACAAAAGTCATAAGTGAAGAGTGATCATG
TCCTGATGCCATGGAATGACTGAAGACAGGCACAAAATGTGACATCTTTGGTCATTTCCCTCTGTAATTATTGTGTATTCTACCCTGTTG

>In-frame_ENST00000446250_ENST00000397183_TCGA-D8-A1JM-01A_VPS53_chr17_505035_-_MYH2_chr17_10444014_length(amino acids)=1639AA_start in transcript=1465_stop in transcript=6384
MLLITTNPYDYPFVSQGEISVASIDDQEELMATDSAIDILGFTNEEKVSIYKLTGAVMHYGNLKFKQKQREEQAEPDGTEVADKAAYLQS
LNSADLLKALCYPRVKVGNEYVTKGQTVEQVSNAVGALAKAVYEKMFLWMVARINQQLDTKQPRQYFIGVLDIAGFEIFDFNSLEQLCIN
FTNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLAACIELIEKPMGIFSILEEECMFPKATDTSFKNKLYDQHLGKSANFQKPKVV
KGKAEAHFALIHYAGVVDYNITGWLEKNKDPLNETVVGLYQKSAMKTLAQLFSGAQTAEGEGAGGGAKKGGKKKGSSFQTVSALFRENLN
KLMTNLRSTHPHFVRCIIPNETKTPGAMEHELVLHQLRCNGVLEGIRICRKGFPSRILYADFKQRYKVLNASAIPEGQFIDSKKASEKLL
ASIDIDHTQYKFGHTKVFFKAGLLGLLEEMRDDKLAQLITRTQARCRGFLARVEYQRMVERREAIFCIQYNIRSFMNVKHWPWMKLFFKI
KPLLKSAETEKEMATMKEEFQKIKDELAKSEAKRKELEEKMVTLLKEKNDLQLQVQAEAEGLADAEERCDQLIKTKIQLEAKIKEVTERA
EDEEEINAELTAKKRKLEDECSELKKDIDDLELTLAKVEKEKHATENKVKNLTEEMAGLDETIAKLTKEKKALQEAHQQTLDDLQAEEDK
VNTLTKAKIKLEQQVDDLEGSLEQEKKLRMDLERAKRKLEGDLKLAQESIMDIENEKQQLDEKLKKKEFEISNLQSKIEDEQALGIQLQK
KIKELQARIEELEEEIEAERASRAKAEKQRSDLSRELEEISERLEEAGGATSAQIEMNKKREAEFQKMRRDLEEATLQHEATAATLRKKH
ADSVAELGEQIDNLQRVKQKLEKEKSEMKMEIDDLASNVETVSKAKGNLEKMCRTLEDQLSELKSKEEEQQRLINDLTAQRGRLQTESGE
FSRQLDEKEALVSQLSRGKQAFTQQIEELKRQLEEEIKAKNALAHALQSSRHDCDLLREQYEEEQESKAELQRALSKANTEVAQWRTKYE
TDAIQRTEELEEAKKKLAQRLQAAEEHVEAVNAKCASLEKTKQRLQNEVEDLMLDVERTNAACAALDKKQRNFDKILAEWKQKCEETHAE
LEASQKEARSLGTELFKIKNAYEESLDQLETLKRENKNLQQEISDLTEQIAEGGKRIHELEKIKKQVEQEKCELQAALEEAEASLEHEEG
KILRIQLELNQVKSEVDRKIAEKDEEIDQLKRNHIRIVESMQSTLDAEIRSRNDAIRLKKKMEGDLNEMEIQLNHANRMAAEALRNYRNT
QGILKDTQIHLDDALRSQEDLKEQLAMVERRANLLQAEIEELRATLEQTERSRKIAEQELLDASERVQLLHTQNTSLINTKKKLETDISQ
MQGEMEDILQEARNAEEKAKKAITDAAMMAEELKKEQDTSAHLERMKKNMEQTVKDLQLRLDEAEQLALKGGKKQIQKLEARVRELEGEV
ESEQKRNAEAVKGLRKHERRVKELTYQTEEDRKNILRLQDLVDKLQAKVKSYKRQAEEAEEQSNTNLAKFRKLQHELEEAEERADIAESQ

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

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Fusion Gene PPI Analysis for VPS53-MYH2


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


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


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Related Drugs for VPS53-MYH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for VPS53-MYH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneVPS53C4014488PONTOCEREBELLAR HYPOPLASIA, TYPE 2E3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneVPS53C0266468Congenital pontocerebellar hypoplasia1GENOMICS_ENGLAND
HgeneVPS53C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
HgeneVPS53C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneVPS53C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneMYH2C1854106INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT2CTD_human;GENOMICS_ENGLAND;UNIPROT