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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:HDAC8-PHKA1 (FusionGDB2 ID:35736)

Fusion Gene Summary for HDAC8-PHKA1

check button Fusion gene summary
Fusion gene informationFusion gene name: HDAC8-PHKA1
Fusion gene ID: 35736
HgeneTgene
Gene symbol

HDAC8

PHKA1

Gene ID

55869

5255

Gene namehistone deacetylase 8phosphorylase kinase regulatory subunit alpha 1
SynonymsCDA07|CDLS5|HD8|HDACL1|KDAC8|MRXS6|RPD3|WTSPHKA
Cytomap

Xq13.1

Xq13.1

Type of geneprotein-codingprotein-coding
Descriptionhistone deacetylase 8histone deacetylase-like 1phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoformphosphorylase kinase alpha M subunitphosphorylase kinase, alpha 1 (muscle), muscle glycogenosis
Modification date2020032920200313
UniProtAcc

Q9BY41

.
Ensembl transtripts involved in fusion geneENST00000373583, ENST00000373573, 
ENST00000373589, ENST00000429103, 
ENST00000373571, ENST00000439122, 
ENST00000373560, ENST00000373559, 
ENST00000373561, ENST00000478743, 
ENST00000373556, ENST00000373554, 
ENST00000373542, ENST00000373545, 
ENST00000541944, ENST00000339490, 
ENST00000373539, 
Fusion gene scores* DoF score4 X 4 X 3=485 X 5 X 2=50
# samples 45
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/50*10)=0
Context

PubMed: HDAC8 [Title/Abstract] AND PHKA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHDAC8(71787739)-PHKA1(71804152), # samples:3
PHKA1(71915558)-HDAC8(71571688), # samples:1
Anticipated loss of major functional domain due to fusion event.HDAC8-PHKA1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HDAC8-PHKA1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
HDAC8-PHKA1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
HDAC8-PHKA1 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene 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
HgeneHDAC8

GO:0031397

negative regulation of protein ubiquitination

16809764

HgeneHDAC8

GO:0031647

regulation of protein stability

16809764


check buttonFusion gene breakpoints across HDAC8 (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 PHKA1 (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
ChimerDB4PRADTCGA-G9-7523-01AHDAC8chrX

71787739

-PHKA1chrX

71804152

-
ChimerDB4PRADTCGA-G9-7523HDAC8chrX

71787739

-PHKA1chrX

71804152

-
ChimerDB4PRADTCGA-G9-7523-01AHDAC8chrX

71787739

-PHKA1chrX

71804152

-


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Fusion Gene ORF analysis for HDAC8-PHKA1

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-3CDSENST00000373583ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373583ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373583ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373583ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373583ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373573ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373573ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373573ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373573ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373573ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373589ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373589ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373589ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373589ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373589ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000429103ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000429103ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000429103ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000429103ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000429103ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373571ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373571ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373571ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373571ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373571ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000439122ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000439122ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000439122ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000439122ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000439122ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373560ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373560ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373560ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373560ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373560ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373559ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373559ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373559ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373559ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373559ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373561ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373561ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373561ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373561ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373561ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000478743ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000478743ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000478743ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000478743ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000478743ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373556ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373556ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373556ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373556ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
Frame-shiftENST00000373556ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373554ENST00000373542HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373554ENST00000373545HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373554ENST00000541944HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373554ENST00000339490HDAC8chrX

71787739

-PHKA1chrX

71804152

-
intron-3CDSENST00000373554ENST00000373539HDAC8chrX

71787739

-PHKA1chrX

71804152

-

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 HDAC8-PHKA1


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 HDAC8-PHKA1


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
HDAC8

Q9BY41

.
FUNCTION: Responsible for the deacetylation of lysine residues on the N-terminal part of the core histones (H2A, H2B, H3 and H4). Histone deacetylation gives a tag for epigenetic repression and plays an important role in transcriptional regulation, cell cycle progression and developmental events. Histone deacetylases act via the formation of large multiprotein complexes. Also involved in the deacetylation of cohesin complex protein SMC3 regulating release of cohesin complexes from chromatin. May play a role in smooth muscle cell contractility. {ECO:0000269|PubMed:10748112, ECO:0000269|PubMed:10922473, ECO:0000269|PubMed:10926844, ECO:0000269|PubMed:14701748, ECO:0000269|PubMed:22885700}.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 HDAC8-PHKA1


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 HDAC8-PHKA1


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 HDAC8-PHKA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneHDAC8Q9BY41DB01592IronCofactorSmall moleculeApproved
HgeneHDAC8Q9BY41DB01592IronCofactorSmall moleculeApproved
HgeneHDAC8Q9BY41DB01592IronCofactorSmall moleculeApproved
HgeneHDAC8Q9BY41DB14488Ferrous gluconateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14488Ferrous gluconateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14488Ferrous gluconateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14489Ferrous succinateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14489Ferrous succinateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14489Ferrous succinateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14490Ferrous ascorbateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14490Ferrous ascorbateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14490Ferrous ascorbateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14491Ferrous fumarateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14491Ferrous fumarateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14491Ferrous fumarateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14501Ferrous glycine sulfateSmall moleculeApproved
HgeneHDAC8Q9BY41DB14548Zinc sulfate, unspecified formCofactorSmall moleculeApproved|Experimental
HgeneHDAC8Q9BY41DB14548Zinc sulfate, unspecified formCofactorSmall moleculeApproved|Experimental
HgeneHDAC8Q9BY41DB14548Zinc sulfate, unspecified formCofactorSmall moleculeApproved|Experimental
HgeneHDAC8Q9BY41DB01593ZincCofactorSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB01593ZincCofactorSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB01593ZincCofactorSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB02546VorinostatSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB02546VorinostatSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB02546VorinostatSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB14487Zinc acetateSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB14533Zinc chlorideCofactorSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB14533Zinc chlorideCofactorSmall moleculeApproved|Investigational
HgeneHDAC8Q9BY41DB14533Zinc chlorideCofactorSmall moleculeApproved|Investigational

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Related Diseases for HDAC8-PHKA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHDAC8C0270972Cornelia De Lange Syndrome5CLINGEN;ORPHANET
HgeneHDAC8C3550903CORNELIA DE LANGE SYNDROME 52GENOMICS_ENGLAND;UNIPROT
HgeneHDAC8C1839736WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME1GENOMICS_ENGLAND;ORPHANET
TgenePHKA1C1845151Glycogen Storage Disease, Type IXD4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT