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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:PHF8-FGGY (FusionGDB2 ID:HG23133TG55277)

Fusion Gene Summary for PHF8-FGGY

check button Fusion gene summary
Fusion gene informationFusion gene name: PHF8-FGGY
Fusion gene ID: hg23133tg55277
HgeneTgene
Gene symbol

PHF8

FGGY

Gene ID

23133

55277

Gene namePHD finger protein 8FGGY carbohydrate kinase domain containing
SynonymsJHDM1F|KDM7B|MRXSSD|ZNF422-
Cytomap('PHF8')('FGGY')

Xp11.22

1p32.1

Type of geneprotein-codingprotein-coding
Descriptionhistone lysine demethylase PHF8jumonji C domain-containing histone demethylase 1FFGGY carbohydrate kinase domain-containing proteinD-ribulokinase
Modification date2020031320200313
UniProtAcc.

Q96C11

Ensembl transtripts involved in fusion geneENST00000322659, ENST00000338154, 
ENST00000338946, ENST00000357988, 
ENST00000462182, 
Fusion gene scores* DoF score8 X 7 X 4=22419 X 17 X 11=3553
# samples 824
** MAII scorelog2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(24/3553*10)=-3.8879313777227
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PHF8 [Title/Abstract] AND FGGY [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPHF8(53963213)-FGGY(60258279), # samples:2
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
HgenePHF8

GO:0033169

histone H3-K9 demethylation

20023638|20208542|20346720|20622853|20622854

HgenePHF8

GO:0035574

histone H4-K20 demethylation

20622853|20622854

HgenePHF8

GO:0045893

positive regulation of transcription, DNA-templated

20622853

HgenePHF8

GO:0045943

positive regulation of transcription by RNA polymerase I

20208542

HgenePHF8

GO:0061188

negative regulation of chromatin silencing at rDNA

20208542

HgenePHF8

GO:0070544

histone H3-K36 demethylation

20208542|20622853

HgenePHF8

GO:0071557

histone H3-K27 demethylation

20622853|20622854

TgeneFGGY

GO:0019321

pentose metabolic process

27909055

TgeneFGGY

GO:0046835

carbohydrate phosphorylation

27909055



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/AEC556957PHF8chrX

53963213

+FGGYchr1

60258279

+
ChiTaRS5.0N/AEC557675PHF8chrX

53963213

+FGGYchr1

60258279

+


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Fusion Gene ORF analysis for PHF8-FGGY

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
intron-intronENST00000322659ENST00000303721PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000322659ENST00000371210PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000322659ENST00000371212PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000322659ENST00000371218PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000322659ENST00000474476PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338154ENST00000303721PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338154ENST00000371210PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338154ENST00000371212PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338154ENST00000371218PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338154ENST00000474476PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338946ENST00000303721PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338946ENST00000371210PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338946ENST00000371212PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338946ENST00000371218PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000338946ENST00000474476PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000357988ENST00000303721PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000357988ENST00000371210PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000357988ENST00000371212PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000357988ENST00000371218PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000357988ENST00000474476PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000462182ENST00000303721PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000462182ENST00000371210PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000462182ENST00000371212PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000462182ENST00000371218PHF8chrX

53963213

+FGGYchr1

60258279

+
intron-intronENST00000462182ENST00000474476PHF8chrX

53963213

+FGGYchr1

60258279

+

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 PHF8-FGGY


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)


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Fusion Protein Features for PHF8-FGGY


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/:53963213/:60258279)
- 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
.FGGY

Q96C11

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


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Fusion Gene Sequence for PHF8-FGGY


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 PHF8-FGGY


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 PHF8-FGGY


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 PHF8-FGGY


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePHF8C1846055Siderius X-linked mental retardation syndrome14CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0028754Obesity1CTD_human
TgeneC0043094Weight Gain1CTD_human