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:PHF1-MYL9 (FusionGDB2 ID:HG5252TG10398)

Fusion Gene Summary for PHF1-MYL9

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF1-MYL9
Fusion gene ID: hg5252tg10398
HgeneTgene
Gene symbol

PHF1

MYL9

Gene ID

5252

10398

Gene namePHD finger protein 1myosin light chain 9
SynonymsMTF2L2|PCL1|PHF2|TDRD19C|hPHF1LC20|MLC-2C|MLC2|MRLC1|MYRL2
Cytomap('PHF1')('MYL9')

6p21.32

20q11.23

Type of geneprotein-codingprotein-coding
DescriptionPHD finger protein 1hPCl1polycomb-like 1polycomb-like protein 1testicular tissue protein Li 140tudor domain containing 19Cmyosin regulatory light polypeptide 920 kDa myosin light chainepididymis secretory sperm binding proteinmyosin RLCmyosin regulatory light chain 1myosin regulatory light chain 2, smooth muscle isoformmyosin regulatory light chain 9myosin regulatory
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000374512, ENST00000374516, 
ENST00000427869, ENST00000442136, 
ENST00000454914, ENST00000459809, 
ENST00000475137, ENST00000487460, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 4 X 4=80
# samples 35
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHF1 [Title/Abstract] AND MYL9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPHF1(33380570)-MYL9(35176434), # samples:1
Anticipated loss of major functional domain due to fusion event.PHF1-MYL9 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.
PHF1-MYL9 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.
PHF1-MYL9 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.
PHF1-MYL9 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
HgenePHF1

GO:0006974

cellular response to DNA damage stimulus

23142980


check buttonFusion gene breakpoints across PHF1 (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 MYL9 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4STADTCGA-CD-5798PHF1chr6

33380570

+MYL9chr20

35176434

+


Top

Fusion Gene ORF analysis for PHF1-MYL9

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-intronENST00000374512ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+
5CDS-intronENST00000374516ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+
In-frameENST00000374512ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
In-frameENST00000374516ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-3CDSENST00000427869ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-3CDSENST00000442136ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-3CDSENST00000454914ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-3CDSENST00000459809ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-3CDSENST00000475137ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-3CDSENST00000487460ENST00000279022PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-intronENST00000427869ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-intronENST00000442136ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-intronENST00000454914ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-intronENST00000459809ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-intronENST00000475137ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+
intron-intronENST00000487460ENST00000346786PHF1chr6

33380570

+MYL9chr20

35176434

+

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)
ENST00000374512PHF1chr633380570+ENST00000279022MYL9chr2035176434+1519608271942223
ENST00000374516PHF1chr633380570+ENST00000279022MYL9chr2035176434+1519608271942223

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
ENST00000374512ENST00000279022PHF1chr633380570+MYL9chr2035176434+0.0032041720.99679583
ENST00000374516ENST00000279022PHF1chr633380570+MYL9chr2035176434+0.0032041720.99679583

Top

Fusion Genomic Features for PHF1-MYL9


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)
PHF1chr633380570+MYL9chr2035176434+2.43E-050.9999757
PHF1chr633380570+MYL9chr2035176434+2.43E-050.9999757

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.
genomic feature

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.
genomic feature of top 1%

Top

Fusion Protein Features for PHF1-MYL9


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/chr6:33380570/chr20:35176434)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (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
HgenePHF1chr6:33380570chr20:35176434ENST00000374512+41429_86112458.0DomainNote=Tudor
HgenePHF1chr6:33380570chr20:35176434ENST00000374516+41529_86112568.0DomainNote=Tudor
TgeneMYL9chr6:33380570chr20:35176434ENST000003467860342_530119.0Calcium binding.
TgeneMYL9chr6:33380570chr20:35176434ENST0000027902214134_16961173.0DomainEF-hand 3
TgeneMYL9chr6:33380570chr20:35176434ENST000002790221498_13361173.0DomainEF-hand 2
TgeneMYL9chr6:33380570chr20:35176434ENST0000034678603134_1690119.0DomainEF-hand 3
TgeneMYL9chr6:33380570chr20:35176434ENST000003467860329_640119.0DomainEF-hand 1
TgeneMYL9chr6:33380570chr20:35176434ENST000003467860398_1330119.0DomainEF-hand 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePHF1chr6:33380570chr20:35176434ENST00000427869+11529_860568.0DomainNote=Tudor
HgenePHF1chr6:33380570chr20:35176434ENST00000454914+11429_860458.0DomainNote=Tudor
HgenePHF1chr6:33380570chr20:35176434ENST00000374512+414186_240112458.0Zinc fingerPHD-type 2
HgenePHF1chr6:33380570chr20:35176434ENST00000374512+41487_142112458.0Zinc fingerPHD-type 1
HgenePHF1chr6:33380570chr20:35176434ENST00000374516+415186_240112568.0Zinc fingerPHD-type 2
HgenePHF1chr6:33380570chr20:35176434ENST00000374516+41587_142112568.0Zinc fingerPHD-type 1
HgenePHF1chr6:33380570chr20:35176434ENST00000427869+115186_2400568.0Zinc fingerPHD-type 2
HgenePHF1chr6:33380570chr20:35176434ENST00000427869+11587_1420568.0Zinc fingerPHD-type 1
HgenePHF1chr6:33380570chr20:35176434ENST00000454914+114186_2400458.0Zinc fingerPHD-type 2
HgenePHF1chr6:33380570chr20:35176434ENST00000454914+11487_1420458.0Zinc fingerPHD-type 1
TgeneMYL9chr6:33380570chr20:35176434ENST000002790221442_5361173.0Calcium binding.
TgeneMYL9chr6:33380570chr20:35176434ENST000002790221429_6461173.0DomainEF-hand 1


Top

Fusion Gene Sequence for PHF1-MYL9


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.
>64808_64808_1_PHF1-MYL9_PHF1_chr6_33380570_ENST00000374512_MYL9_chr20_35176434_ENST00000279022_length(transcript)=1519nt_BP=608nt
CACCCTCCCCCCCAACCGGTCCGTCCCTCCCCTCCCTCCCTCCCCCCCGCCGCCTCCTCCTCCTGCCGCTGCCGCTGCTTTGGCTGCTGC
GTCATACGCCCCAGAGCCGCCGGGACGGAGGGGCTGGGCCTGGGGACCCCCCGGCCTCCGCCTGCACGCCCCCCCACGCCCGGACGTGCC
CTCTCCGCGCGGGGGACTCGCCTAGGTCTCCTACGTCTGCCCCTGCCCGGCTCCCGGCGGCCCCAGCTGTCACCGGCCCCCCCAGGATGC
AATGGCGCAGCCCCCCCGGCTGAGCCGCTCTGGTGCCTCCTCACTTTGGGACCCAGCTTCTCCTGCTCCCACCTCTGGCCCCAGGCCTCG
GCTTTGGGAGGGTCAAGATGTGCTGGCCAGATGGACTGATGGGCTGCTATACTTGGGTACCATCAAAAAGGTGGACAGTGCTAGGGAGGT
GTGTCTGGTCCAGTTTGAGGATGATTCGCAGTTTCTGGTTCTATGGAAAGACATTAGCCCTGCTGCCCTCCCTGGAGAGGAACTCCTCTG
TTGTGTCTGTCGCTCTGAGACTGTGGTCCCTGGGAACCGGCTGGTCAGCTGTGAGAAGTGTCGCCATGGGAAGAACCCCACAGACGAATA
CCTGGAGGGCATGATGAGCGAGGCCCCGGGGCCCATCAACTTCACCATGTTCCTCACCATGTTTGGGGAGAAGCTGAACGGCACGGACCC
CGAGGATGTGATTCGCAACGCCTTTGCCTGCTTCGACGAGGAAGCCTCAGGTTTCATCCATGAGGACCACCTCCGGGAGCTGCTCACCAC
CATGGGTGACCGCTTCACAGATGAGGAAGTGGACGAGATGTACCGGGAGGCACCCATTGATAAGAAAGGCAACTTCAACTACGTGGAGTT
CACCCGCATCCTCAAACATGGCGCCAAGGATAAAGACGACTAGGCCACCCCAGCCCCCTGACACCCCAGCCCCCGCCAGTCACCCCTCCC
CGCACACACCCGTCCATACCAGCTCCCTGCCCATGACCCTCGCTCAGGGATCCCCCTTTGAGGGGTTAGGGTCCCAGTTCCCAGTGGAAG
AAACAGGCCAGGAGAAGTGCGTGCCGAGCTGAGGCAGATGTTCCCACAGTGACCCCAGAGCCCTGGGCTATAGTCTCTGACCCCTCCAAG
GAAAGACCACCTTCTGGGGACATGGGCTGGAGGGCAGGACCTAGAGGCACCAAGGGAAGGCCCCATTCCGGGGCTGTTCCCCGAGGAGGA
AGGGAAGGGGCTCTGTGTGCCCCCCAGGAGGAAGAGGCCCTGAGTCCTGGGATCAGACACCCCTTCACGTGTATCCCCACACAAATGCAA
GCTCACCAAGGTCCCCTCTCAGTCCCCTTCCCTACACCCTGACCGGCCACTGCCGCACACCCACCCAGAGCACGCCACCCGCCATGGGAG

>64808_64808_1_PHF1-MYL9_PHF1_chr6_33380570_ENST00000374512_MYL9_chr20_35176434_ENST00000279022_length(amino acids)=223AA_BP=112
MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLC
CVCRSETVVPGNRLVSCEKCRHGKNPTDEYLEGMMSEAPGPINFTMFLTMFGEKLNGTDPEDVIRNAFACFDEEASGFIHEDHLRELLTT

--------------------------------------------------------------
>64808_64808_2_PHF1-MYL9_PHF1_chr6_33380570_ENST00000374516_MYL9_chr20_35176434_ENST00000279022_length(transcript)=1519nt_BP=608nt
CACCCTCCCCCCCAACCGGTCCGTCCCTCCCCTCCCTCCCTCCCCCCCGCCGCCTCCTCCTCCTGCCGCTGCCGCTGCTTTGGCTGCTGC
GTCATACGCCCCAGAGCCGCCGGGACGGAGGGGCTGGGCCTGGGGACCCCCCGGCCTCCGCCTGCACGCCCCCCCACGCCCGGACGTGCC
CTCTCCGCGCGGGGGACTCGCCTAGGTCTCCTACGTCTGCCCCTGCCCGGCTCCCGGCGGCCCCAGCTGTCACCGGCCCCCCCAGGATGC
AATGGCGCAGCCCCCCCGGCTGAGCCGCTCTGGTGCCTCCTCACTTTGGGACCCAGCTTCTCCTGCTCCCACCTCTGGCCCCAGGCCTCG
GCTTTGGGAGGGTCAAGATGTGCTGGCCAGATGGACTGATGGGCTGCTATACTTGGGTACCATCAAAAAGGTGGACAGTGCTAGGGAGGT
GTGTCTGGTCCAGTTTGAGGATGATTCGCAGTTTCTGGTTCTATGGAAAGACATTAGCCCTGCTGCCCTCCCTGGAGAGGAACTCCTCTG
TTGTGTCTGTCGCTCTGAGACTGTGGTCCCTGGGAACCGGCTGGTCAGCTGTGAGAAGTGTCGCCATGGGAAGAACCCCACAGACGAATA
CCTGGAGGGCATGATGAGCGAGGCCCCGGGGCCCATCAACTTCACCATGTTCCTCACCATGTTTGGGGAGAAGCTGAACGGCACGGACCC
CGAGGATGTGATTCGCAACGCCTTTGCCTGCTTCGACGAGGAAGCCTCAGGTTTCATCCATGAGGACCACCTCCGGGAGCTGCTCACCAC
CATGGGTGACCGCTTCACAGATGAGGAAGTGGACGAGATGTACCGGGAGGCACCCATTGATAAGAAAGGCAACTTCAACTACGTGGAGTT
CACCCGCATCCTCAAACATGGCGCCAAGGATAAAGACGACTAGGCCACCCCAGCCCCCTGACACCCCAGCCCCCGCCAGTCACCCCTCCC
CGCACACACCCGTCCATACCAGCTCCCTGCCCATGACCCTCGCTCAGGGATCCCCCTTTGAGGGGTTAGGGTCCCAGTTCCCAGTGGAAG
AAACAGGCCAGGAGAAGTGCGTGCCGAGCTGAGGCAGATGTTCCCACAGTGACCCCAGAGCCCTGGGCTATAGTCTCTGACCCCTCCAAG
GAAAGACCACCTTCTGGGGACATGGGCTGGAGGGCAGGACCTAGAGGCACCAAGGGAAGGCCCCATTCCGGGGCTGTTCCCCGAGGAGGA
AGGGAAGGGGCTCTGTGTGCCCCCCAGGAGGAAGAGGCCCTGAGTCCTGGGATCAGACACCCCTTCACGTGTATCCCCACACAAATGCAA
GCTCACCAAGGTCCCCTCTCAGTCCCCTTCCCTACACCCTGACCGGCCACTGCCGCACACCCACCCAGAGCACGCCACCCGCCATGGGAG

>64808_64808_2_PHF1-MYL9_PHF1_chr6_33380570_ENST00000374516_MYL9_chr20_35176434_ENST00000279022_length(amino acids)=223AA_BP=112
MAQPPRLSRSGASSLWDPASPAPTSGPRPRLWEGQDVLARWTDGLLYLGTIKKVDSAREVCLVQFEDDSQFLVLWKDISPAALPGEELLC
CVCRSETVVPGNRLVSCEKCRHGKNPTDEYLEGMMSEAPGPINFTMFLTMFGEKLNGTDPEDVIRNAFACFDEEASGFIHEDHLRELLTT

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

Top

Fusion Gene PPI Analysis for PHF1-MYL9


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 PHF1-MYL9


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 PHF1-MYL9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006114Cerebral Edema1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0042373Vascular Diseases1CTD_human
TgeneC0472387Vasogenic Cerebral Edema1CTD_human
TgeneC0472388Cytotoxic Cerebral Edema1CTD_human
TgeneC0750969Vasogenic Brain Edema1CTD_human
TgeneC0750970Cytotoxic Brain Edema1CTD_human
TgeneC1527311Brain Edema1CTD_human