Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:AKAP9-MYH9 (FusionGDB2 ID:HG10142TG4627)

Fusion Gene Summary for AKAP9-MYH9

check button Fusion gene summary
Fusion gene informationFusion gene name: AKAP9-MYH9
Fusion gene ID: hg10142tg4627
HgeneTgene
Gene symbol

AKAP9

MYH9

Gene ID

10142

4627

Gene nameA-kinase anchoring protein 9myosin heavy chain 9
SynonymsAKAP-9|AKAP350|AKAP450|CG-NAP|HYPERION|LQT11|MU-RMS-40.16A|PPP1R45|PRKA9|YOTIAOBDPLT6|DFNA17|EPSTS|FTNS|MATINS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA
Cytomap('AKAP9')('MYH9')

7q21.2

22q12.3

Type of geneprotein-codingprotein-coding
DescriptionA-kinase anchor protein 9A kinase (PRKA) anchor protein (yotiao) 9A kinase (PRKA) anchor protein 9A-kinase anchor protein 350 kDaA-kinase anchor protein 450 kDaAKAP 120-like proteinAKAP9-BRAF fusion proteincentrosome- and Golgi-localized PKN-associmyosin-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 date2020032820200315
UniProtAcc

Q99996

P35579

Ensembl transtripts involved in fusion geneENST00000356239, ENST00000358100, 
ENST00000359028, ENST00000394564, 
ENST00000491695, 
Fusion gene scores* DoF score17 X 21 X 11=392744 X 46 X 15=30360
# samples 2856
** MAII scorelog2(28/3927*10)=-3.80992886572143
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

PubMed: AKAP9 [Title/Abstract] AND MYH9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAKAP9(91630658)-MYH9(36722666), # samples:1
Anticipated loss of major functional domain due to fusion event.AKAP9-MYH9 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
AKAP9-MYH9 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
AKAP9-MYH9 seems lost the major protein functional domain in Tgene 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
HgeneAKAP9

GO:0098962

regulation of postsynaptic neurotransmitter receptor activity

10390370

HgeneAKAP9

GO:1903358

regulation of Golgi organization

27666745

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 button Fusion gene information
* 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
ChimerDB4STADTCGA-CD-A486-01AAKAP9chr7

91630658

+MYH9chr22

36722666

-


Top

Fusion Gene ORF analysis for AKAP9-MYH9

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
5CDS-intronENST00000356239ENST00000401701AKAP9chr7

91630658

+MYH9chr22

36722666

-
5CDS-intronENST00000356239ENST00000475726AKAP9chr7

91630658

+MYH9chr22

36722666

-
5CDS-intronENST00000358100ENST00000401701AKAP9chr7

91630658

+MYH9chr22

36722666

-
5CDS-intronENST00000358100ENST00000475726AKAP9chr7

91630658

+MYH9chr22

36722666

-
5CDS-intronENST00000359028ENST00000401701AKAP9chr7

91630658

+MYH9chr22

36722666

-
5CDS-intronENST00000359028ENST00000475726AKAP9chr7

91630658

+MYH9chr22

36722666

-
Frame-shiftENST00000356239ENST00000216181AKAP9chr7

91630658

+MYH9chr22

36722666

-
Frame-shiftENST00000358100ENST00000216181AKAP9chr7

91630658

+MYH9chr22

36722666

-
Frame-shiftENST00000359028ENST00000216181AKAP9chr7

91630658

+MYH9chr22

36722666

-
intron-3CDSENST00000394564ENST00000216181AKAP9chr7

91630658

+MYH9chr22

36722666

-
intron-3CDSENST00000491695ENST00000216181AKAP9chr7

91630658

+MYH9chr22

36722666

-
intron-intronENST00000394564ENST00000401701AKAP9chr7

91630658

+MYH9chr22

36722666

-
intron-intronENST00000394564ENST00000475726AKAP9chr7

91630658

+MYH9chr22

36722666

-
intron-intronENST00000491695ENST00000401701AKAP9chr7

91630658

+MYH9chr22

36722666

-
intron-intronENST00000491695ENST00000475726AKAP9chr7

91630658

+MYH9chr22

36722666

-

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

Top

Fusion Genomic Features for AKAP9-MYH9


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)


Top

Fusion Protein Features for AKAP9-MYH9


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/:91630658/:36722666)
- 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
AKAP9

Q99996

MYH9

P35579

FUNCTION: Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruits CAMSAP2 to the Golgi apparatus and tethers non-centrosomal minus-end microtubules to the Golgi, an important step for polarized cell movement (PubMed:27666745, PubMed:28814570). In complex with PDE4DIP isoform 13/MMG8/SMYLE, EB1/MAPRE1 and CDK5RAP2, contributes to microtubules nucleation and extension also from the centrosome to the cell periphery (PubMed:29162697). {ECO:0000269|PubMed:10202149, ECO:0000269|PubMed:15047863, ECO:0000269|PubMed:19242490, ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:27666745, ECO:0000269|PubMed:28814570, ECO:0000269|PubMed:29162697}.; FUNCTION: [Isoform 4]: Associated with the N-methyl-D-aspartate receptor and is specifically found in the neuromuscular junction (NMJ) as well as in neuronal synapses, suggesting a role in the organization of postsynaptic specializations. {ECO:0000269|PubMed:9482789}.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.
- 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


Top

Fusion Gene Sequence for AKAP9-MYH9


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.

Top

Fusion Gene PPI Analysis for AKAP9-MYH9


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


Top

Related Drugs for AKAP9-MYH9


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

Top

Related Diseases for AKAP9-MYH9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAKAP9C2678483Long Qt Syndrome 114CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAKAP9C0035828Romano-Ward Syndrome1ORPHANET
HgeneAKAP9C0037274Dermatologic disorders1CTD_human
HgeneAKAP9C0274861Arsenic Poisoning, Inorganic1CTD_human
HgeneAKAP9C0274862Nervous System, Organic Arsenic Poisoning1CTD_human
HgeneAKAP9C0311375Arsenic Poisoning1CTD_human
HgeneAKAP9C0751851Arsenic Encephalopathy1CTD_human
HgeneAKAP9C0751852Arsenic Induced Polyneuropathy1CTD_human
HgeneAKAP9C1142166Brugada Syndrome (disorder)1ORPHANET
TgeneC0340978May-Hegglin anomaly25CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneC1854520SEBASTIAN SYNDROME14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0398641Epstein syndrome (disorder)11CLINGEN
TgeneC0403445Fechtner syndrome (disorder)11CLINGEN
TgeneC0477317Other primary thrombocytopenia11CLINGEN
TgeneC1842035Giant Platelet Syndrome with Thrombocytopenia11CLINGEN
TgeneC1863659DEAFNESS, AUTOSOMAL DOMINANT 176CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0022661Kidney Failure, Chronic2CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneC0017668Focal glomerulosclerosis1CTD_human
TgeneC0018784Sensorineural Hearing Loss (disorder)1GENOMICS_ENGLAND
TgeneC0018965Hematuria1GENOMICS_ENGLAND
TgeneC0020544Renal hypertension1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027706Hereditary nephritis1CTD_human
TgeneC0033687Proteinuria1GENOMICS_ENGLAND
TgeneC0035078Kidney Failure1GENOMICS_ENGLAND
TgeneC0086432Hyalinosis, Segmental Glomerular1CTD_human
TgeneC0086543Cataract1GENOMICS_ENGLAND
TgeneC0206692Carcinoma, Lobular1CTD_human
TgeneC0410005Nodular fasciitis1ORPHANET
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1567741Alport Syndrome1CTD_human
TgeneC1567742Alport Syndrome, X-Linked1CTD_human
TgeneC1567743Alport Syndrome, Autosomal Dominant1CTD_human
TgeneC1567744Alport Syndrome, Autosomal Recessive1CTD_human
TgeneC1834478MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS1CTD_human
TgeneC2931861Hemorrhagic hereditary nephritis1CTD_human
TgeneC4280711Leukocyte inclusion bodies1GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human1CTD_human