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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:MYH9-C11orf85 (FusionGDB2 ID:56028)

Fusion Gene Summary for MYH9-C11orf85

check button Fusion gene summary
Fusion gene informationFusion gene name: MYH9-C11orf85
Fusion gene ID: 56028
HgeneTgene
Gene symbol

MYH9

C11orf85

Gene ID

4627

283129

Gene namemyosin heavy chain 9membrane anchored junction protein
SynonymsBDPLT6|DFNA17|EPSTS|FTNS|MATINS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCAC11orf85
Cytomap

22q12.3

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionmyosin-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-Amembrane-anchored junction protein
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000216181, ENST00000475726, 
ENST00000401701, 
ENST00000530444, 
ENST00000536065, ENST00000432175, 
ENST00000301896, 
Fusion gene scores* DoF score55 X 51 X 22=617105 X 6 X 4=120
# samples 778
** MAII scorelog2(77/61710*10)=-6.32450203855119
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MYH9 [Title/Abstract] AND C11orf85 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMYH9(36691551)-C11orf85(64722274), # samples:1
MYH9(36691551)-C11orf85(64708118), # samples:1
MYH9(36691551)-C11orf85(64727607), # samples:1
Anticipated loss of major functional domain due to fusion event.MYH9-C11orf85 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
MYH9-C11orf85 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
HgeneMYH9

GO:0001525

angiogenesis

16403913

HgeneMYH9

GO:0001778

plasma membrane repair

27325790

HgeneMYH9

GO:0006509

membrane protein ectodomain proteolysis

16186248

HgeneMYH9

GO:0030048

actin filament-based movement

12237319|15845534

HgeneMYH9

GO:0031032

actomyosin structure organization

24072716


check buttonFusion gene breakpoints across MYH9 (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 C11orf85 (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
ChimerDB4UCECTCGA-DI-A2QU-01AMYH9chr22

36691551

-C11orf85chr11

64722274

-
ChimerDB4UCECTCGA-DI-A2QU-01AMYH9chr22

36691551

-C11orf85chr11

64708118

-
ChimerDB4UCECTCGA-DI-A2QU-01AMYH9chr22

36691551

-C11orf85chr11

64727607

-


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Fusion Gene ORF analysis for MYH9-C11orf85

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-shiftENST00000216181ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64722274

-
5CDS-5UTRENST00000216181ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64722274

-
5CDS-5UTRENST00000216181ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64722274

-
5CDS-5UTRENST00000216181ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-3CDSENST00000475726ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-5UTRENST00000475726ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-5UTRENST00000475726ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-5UTRENST00000475726ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-3CDSENST00000401701ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-5UTRENST00000401701ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-5UTRENST00000401701ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64722274

-
intron-5UTRENST00000401701ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64722274

-
Frame-shiftENST00000216181ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64708118

-
Frame-shiftENST00000216181ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64708118

-
Frame-shiftENST00000216181ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64708118

-
Frame-shiftENST00000216181ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000475726ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000475726ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000475726ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000475726ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000401701ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000401701ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000401701ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64708118

-
intron-3CDSENST00000401701ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64708118

-
5CDS-5UTRENST00000216181ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64727607

-
5CDS-5UTRENST00000216181ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64727607

-
5CDS-5UTRENST00000216181ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64727607

-
5CDS-5UTRENST00000216181ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000475726ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000475726ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000475726ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000475726ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000401701ENST00000530444MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000401701ENST00000536065MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000401701ENST00000432175MYH9chr22

36691551

-C11orf85chr11

64727607

-
intron-5UTRENST00000401701ENST00000301896MYH9chr22

36691551

-C11orf85chr11

64727607

-

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)

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

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Fusion Genomic Features for MYH9-C11orf85


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 MYH9-C11orf85


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
..
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: 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.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for MYH9-C11orf85


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.

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Fusion Gene PPI Analysis for MYH9-C11orf85


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 MYH9-C11orf85


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 MYH9-C11orf85


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMYH9C0340978May-Hegglin anomaly25CLINGEN;GENOMICS_ENGLAND;UNIPROT
HgeneMYH9C1854520SEBASTIAN SYNDROME14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneMYH9C0398641Epstein syndrome (disorder)11CLINGEN
HgeneMYH9C0403445Fechtner syndrome (disorder)11CLINGEN
HgeneMYH9C0477317Other primary thrombocytopenia11CLINGEN
HgeneMYH9C1842035Giant Platelet Syndrome with Thrombocytopenia11CLINGEN
HgeneMYH9C1863659DEAFNESS, AUTOSOMAL DOMINANT 176CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneMYH9C0022661Kidney Failure, Chronic2CTD_human
HgeneMYH9C0006142Malignant neoplasm of breast1CTD_human;UNIPROT
HgeneMYH9C0017668Focal glomerulosclerosis1CTD_human
HgeneMYH9C0018784Sensorineural Hearing Loss (disorder)1GENOMICS_ENGLAND
HgeneMYH9C0018965Hematuria1GENOMICS_ENGLAND
HgeneMYH9C0020544Renal hypertension1CTD_human
HgeneMYH9C0027626Neoplasm Invasiveness1CTD_human
HgeneMYH9C0027706Hereditary nephritis1CTD_human
HgeneMYH9C0033687Proteinuria1GENOMICS_ENGLAND
HgeneMYH9C0035078Kidney Failure1GENOMICS_ENGLAND
HgeneMYH9C0086432Hyalinosis, Segmental Glomerular1CTD_human
HgeneMYH9C0086543Cataract1GENOMICS_ENGLAND
HgeneMYH9C0206692Carcinoma, Lobular1CTD_human
HgeneMYH9C0410005Nodular fasciitis1ORPHANET
HgeneMYH9C0678222Breast Carcinoma1CTD_human
HgeneMYH9C1257931Mammary Neoplasms, Human1CTD_human
HgeneMYH9C1458155Mammary Neoplasms1CTD_human
HgeneMYH9C1567741Alport Syndrome1CTD_human
HgeneMYH9C1567742Alport Syndrome, X-Linked1CTD_human
HgeneMYH9C1567743Alport Syndrome, Autosomal Dominant1CTD_human
HgeneMYH9C1567744Alport Syndrome, Autosomal Recessive1CTD_human
HgeneMYH9C1834478MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS1CTD_human
HgeneMYH9C2931861Hemorrhagic hereditary nephritis1CTD_human
HgeneMYH9C4280711Leukocyte inclusion bodies1GENOMICS_ENGLAND
HgeneMYH9C4704874Mammary Carcinoma, Human1CTD_human