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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:CHD2-MYH9

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CHD2-MYH9
FusionPDB ID: 16303
FusionGDB2.0 ID: 16303
HgeneTgene
Gene symbol

CHD2

MYH9

Gene ID

1826

4627

Gene nameDS cell adhesion moleculemyosin heavy chain 9
SynonymsCHD2|CHD2-42|CHD2-52BDPLT6|DFNA17|EPSTS|FTNS|MATINS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA
Cytomap

21q22.2

22q12.3

Type of geneprotein-codingprotein-coding
DescriptionDown syndrome cell adhesion moleculemyosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-A
Modification date2020031320200315
UniProtAcc

O14647

P35579

Ensembl transtripts involved in fusion geneENST idsENST00000554122, ENST00000394196, 
ENST00000420239, ENST00000557381, 
ENST00000536619, 
ENST00000216181, 
ENST00000401701, ENST00000475726, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score22 X 13 X 11=314644 X 46 X 15=30360
# samples 2356
** MAII scorelog2(23/3146*10)=-3.77381290447131
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(56/30360*10)=-5.76060115335786
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CHD2 [Title/Abstract] AND MYH9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CHD2(93444529)-MYH9(36701148), # samples:1
Anticipated loss of major functional domain due to fusion event.CHD2-MYH9 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.
CHD2-MYH9 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.
CHD2-MYH9 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.
CHD2-MYH9 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
HgeneCHD2

GO:0042327

positive regulation of phosphorylation

19196994

HgeneCHD2

GO:0048842

positive regulation of axon extension involved in axon guidance

18585357

TgeneMYH9

GO:0001525

angiogenesis

16403913

TgeneMYH9

GO:0001778

plasma membrane repair

27325790

TgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

TgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

TgeneMYH9

GO:0031032

actomyosin structure organization

24072716


check buttonFusion gene breakpoints across CHD2 (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 MYH9 (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
ChimerDB4OVTCGA-29-1688CHD2chr15

93444529

+MYH9chr22

36701148

-


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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)
ENST00000394196CHD2chr1593444529+ENST00000216181MYH9chr2236701148-62411130106848531261
ENST00000557381CHD2chr1593444529+ENST00000216181MYH9chr2236701148-588076970744921261
ENST00000420239CHD2chr1593444529+ENST00000216181MYH9chr2236701148-573462356143461261

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
ENST00000394196ENST00000216181CHD2chr1593444529+MYH9chr2236701148-0.0193800160.98062
ENST00000557381ENST00000216181CHD2chr1593444529+MYH9chr2236701148-0.0188191350.9811809
ENST00000420239ENST00000216181CHD2chr1593444529+MYH9chr2236701148-0.0194213930.98057866

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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

>16303_16303_1_CHD2-MYH9_CHD2_chr15_93444529_ENST00000394196_MYH9_chr22_36701148_ENST00000216181_length(amino acids)=1261AA_BP=20
MMRNKDKSQEEDSSLHSNASRYEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQAC
CRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLM
AEKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTT
EAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTD
LSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELE
DTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQG
KGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLST
KLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQ
QELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDL
MSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELE
DERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEEL
AAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENA
RQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKAS
TRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNKLRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPA

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

>16303_16303_2_CHD2-MYH9_CHD2_chr15_93444529_ENST00000420239_MYH9_chr22_36701148_ENST00000216181_length(amino acids)=1261AA_BP=20
MMRNKDKSQEEDSSLHSNASRYEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQAC
CRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLM
AEKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTT
EAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTD
LSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELE
DTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQG
KGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLST
KLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQ
QELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDL
MSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELE
DERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEEL
AAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENA
RQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKAS
TRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNKLRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPA

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

>16303_16303_3_CHD2-MYH9_CHD2_chr15_93444529_ENST00000557381_MYH9_chr22_36701148_ENST00000216181_length(amino acids)=1261AA_BP=20
MMRNKDKSQEEDSSLHSNASRYEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQAC
CRGYLARKAFAKRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLM
AEKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQKLQLEKVTT
EAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREEKQRQELEKTRRKLEGDSTD
LSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDLESERASRNKAEKQKRDLGEELEALKTELE
DTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEELAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQG
KGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQVELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLST
KLKQVEDEKNSFREQLEEEEEAKHNLEKQIATLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQ
QELDDLLVDLDHQRQSACNLEKKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDL
MSSKDDVGKSVHELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELE
DERKQRSMAVAARKKLEMDLKDLEAHIDSANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEAEMIQLQEEL
AAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQIDQINTDLNLERSHAQKNENA
RQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRTEKKLKDVLLQVDDERRNAEQYKDQADKAS
TRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNKLRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPA

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

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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/chr15:93444529/chr22:36701148)
- 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
CHD2

O14647

MYH9

P35579

FUNCTION: DNA-binding helicase that specifically binds to the promoter of target genes, leading to chromatin remodeling, possibly by promoting deposition of histone H3.3. Involved in myogenesis via interaction with MYOD1: binds to myogenic gene regulatory sequences and mediates incorporation of histone H3.3 prior to the onset of myogenic gene expression, promoting their expression (By similarity). {ECO:0000250}.FUNCTION: Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. Promotes also cell motility together with S100A4 (PubMed:16707441). During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10 (PubMed:20052411). {ECO:0000250|UniProtKB:Q8VDD5, ECO:0000269|PubMed:16707441, ECO:0000269|PubMed:20052411}.

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
TgeneMYH9chr15:93444529chr22:36701148ENST000002161811641837_1926719.66666666666661961.0Coiled coilOntology_term=ECO:0000255
TgeneMYH9chr15:93444529chr22:36701148ENST000002161811641779_808719.66666666666661961.0DomainIQ

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239121_13920.6666666666666681829.0Compositional biasNote=Ser-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+23913_7420.6666666666666681829.0Compositional biasNote=Ser-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239966_106620.6666666666666681829.0Compositional biasNote=Glu-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213121_13920.666666666666668502.0Compositional biasNote=Ser-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+21313_7420.666666666666668502.0Compositional biasNote=Ser-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213966_106620.666666666666668502.0Compositional biasNote=Glu-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238121_13920.6666666666666681740.0Compositional biasNote=Ser-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+23813_7420.6666666666666681740.0Compositional biasNote=Ser-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238966_106620.6666666666666681740.0Compositional biasNote=Glu-rich
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239261_35320.6666666666666681829.0DomainChromo 1
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239378_45620.6666666666666681829.0DomainChromo 2
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239496_66620.6666666666666681829.0DomainHelicase ATP-binding
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239795_94620.6666666666666681829.0DomainHelicase C-terminal
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213261_35320.666666666666668502.0DomainChromo 1
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213378_45620.666666666666668502.0DomainChromo 2
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213496_66620.666666666666668502.0DomainHelicase ATP-binding
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213795_94620.666666666666668502.0DomainHelicase C-terminal
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238261_35320.6666666666666681740.0DomainChromo 1
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238378_45620.6666666666666681740.0DomainChromo 2
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238496_66620.6666666666666681740.0DomainHelicase ATP-binding
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238795_94620.6666666666666681740.0DomainHelicase C-terminal
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239617_62020.6666666666666681829.0MotifNote=DEAH box
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213617_62020.666666666666668502.0MotifNote=DEAH box
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238617_62020.6666666666666681740.0MotifNote=DEAH box
HgeneCHD2chr15:93444529chr22:36701148ENST00000394196+239509_51620.6666666666666681829.0Nucleotide bindingATP
HgeneCHD2chr15:93444529chr22:36701148ENST00000420239+213509_51620.666666666666668502.0Nucleotide bindingATP
HgeneCHD2chr15:93444529chr22:36701148ENST00000557381+238509_51620.6666666666666681740.0Nucleotide bindingATP
TgeneMYH9chr15:93444529chr22:36701148ENST00000216181164127_77719.66666666666661961.0DomainMyosin N-terminal SH3-like
TgeneMYH9chr15:93444529chr22:36701148ENST00000216181164181_776719.66666666666661961.0DomainMyosin motor
TgeneMYH9chr15:93444529chr22:36701148ENST000002161811641174_181719.66666666666661961.0Nucleotide bindingATP
TgeneMYH9chr15:93444529chr22:36701148ENST000002161811641654_676719.66666666666661961.0RegionNote=Actin-binding


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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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CHD2
MYH9


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 CHD2-MYH9


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 CHD2-MYH9


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