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:YY1AP1-PHF20 (FusionGDB2 ID:HG55249TG51230)

Fusion Gene Summary for YY1AP1-PHF20

check button Fusion gene summary
Fusion gene informationFusion gene name: YY1AP1-PHF20
Fusion gene ID: hg55249tg51230
HgeneTgene
Gene symbol

YY1AP1

PHF20

Gene ID

55249

51230

Gene nameYY1 associated protein 1PHD finger protein 20
SynonymsGRNG|HCCA1|HCCA2|YY1APC20orf104|GLEA2|HCA58|NZF|TDRD20A|TZP
Cytomap('YY1AP1')('PHF20')

1q22

20q11.22-q11.23

Type of geneprotein-codingprotein-coding
DescriptionYY1-associated protein 1hepatocellular carcinoma susceptibility proteinhepatocellular carcinoma-associated protein 2PHD finger protein 20glioma-expressed antigen 2hepatocellular carcinoma-associated antigen 58novel zinc finger proteintranscription factor TZPtudor domain containing 20A
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000368339, ENST00000535662, 
ENST00000295566, ENST00000311573, 
ENST00000347088, ENST00000355499, 
ENST00000359205, ENST00000361831, 
ENST00000368330, ENST00000368340, 
ENST00000404643, ENST00000405763, 
ENST00000407221, ENST00000438245, 
ENST00000476093, 
Fusion gene scores* DoF score10 X 12 X 6=72026 X 25 X 15=9750
# samples 1432
** MAII scorelog2(14/720*10)=-2.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(32/9750*10)=-4.92925840863697
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: YY1AP1 [Title/Abstract] AND PHF20 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointYY1AP1(155629245)-PHF20(34432355), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneYY1AP1

GO:0051726

regulation of cell cycle

17541814

TgenePHF20

GO:0043981

histone H4-K5 acetylation

20018852

TgenePHF20

GO:0043982

histone H4-K8 acetylation

20018852

TgenePHF20

GO:0043984

histone H4-K16 acetylation

20018852



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
ChiTaRS5.0N/AAF206328YY1AP1chr1

155629245

-PHF20chr20

34432355

-


Top

Fusion Gene ORF analysis for YY1AP1-PHF20

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-intronENST00000368339ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
5CDS-intronENST00000368339ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
5CDS-intronENST00000368339ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
5CDS-intronENST00000535662ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
5CDS-intronENST00000535662ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
5CDS-intronENST00000535662ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000295566ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000295566ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000295566ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000311573ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000311573ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000311573ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000347088ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000347088ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000347088ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000355499ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000355499ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000355499ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000359205ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000359205ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000359205ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000361831ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000361831ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000361831ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000368330ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000368330ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000368330ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000368340ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000368340ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000368340ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000404643ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000404643ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000404643ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000405763ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000405763ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000405763ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000407221ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000407221ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000407221ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000438245ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000438245ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000438245ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000476093ENST00000374012YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000476093ENST00000439301YY1AP1chr1

155629245

-PHF20chr20

34432355

-
intron-intronENST00000476093ENST00000481202YY1AP1chr1

155629245

-PHF20chr20

34432355

-

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 YY1AP1-PHF20


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 YY1AP1-PHF20


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/:155629245/:34432355)
- 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

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


Top

Fusion Gene Sequence for YY1AP1-PHF20


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 YY1AP1-PHF20


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 YY1AP1-PHF20


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 YY1AP1-PHF20


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneYY1AP1C1865267Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly1CTD_human;GENOMICS_ENGLAND;ORPHANET