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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:HDAC9-RPL8 (FusionGDB2 ID:35885)

Fusion Gene Summary for HDAC9-RPL8

Fusion gene summary

Fusion gene information	Fusion gene name: HDAC9-RPL8
	Fusion gene ID: 35885
		Hgene	Tgene
	Gene symbol	HDAC9	RPL8
	Gene ID	9734	6132
	Gene name	histone deacetylase 9	ribosomal protein L8
	Synonyms	HD7\|HD7b\|HD9\|HDAC\|HDAC7\|HDAC7B\|HDAC9B\|HDAC9FL\|HDRP\|MITR	L8
	Cytomap	7p21.1	8q24.3
	Type of gene	protein-coding	protein-coding
	Description	histone deacetylase 9MEF-2 interacting transcription repressor (MITR) proteinhistone deacetylase 4/5-related proteinhistone deacetylase 7B	60S ribosomal protein L8large ribosomal subunit protein uL2
	Modification date	20200322	20200327
	UniProtAcc	Q9UKV0	.
	Ensembl transtripts involved in fusion gene	ENST00000401921, ENST00000405010, ENST00000406072, ENST00000406451, ENST00000417496, ENST00000428307, ENST00000432645, ENST00000441542, ENST00000456174, ENST00000476135, ENST00000524023,	ENST00000262584, ENST00000394920, ENST00000527914, ENST00000528957, ENST00000529163,
Fusion gene scores	* DoF score	15 X 14 X 7=1470	17 X 17 X 6=1734
	# samples	15	21
	** MAII score	log2(15/1470*10)=-3.29278174922785 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(21/1734*10)=-3.04564266555571 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: HDAC9 [Title/Abstract] AND RPL8 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	HDAC9(18458046)-RPL8(146015154), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	HDAC9	GO:0000122	negative regulation of transcription by RNA polymerase II	10655483\|11535832
Hgene	HDAC9	GO:0016575	histone deacetylation	11535832
Hgene	HDAC9	GO:0032869	cellular response to insulin stimulus	19303849
Hgene	HDAC9	GO:0034983	peptidyl-lysine deacetylation	11535832
Hgene	HDAC9	GO:0042632	cholesterol homeostasis	28855441
Hgene	HDAC9	GO:0045892	negative regulation of transcription, DNA-templated	11535832
Hgene	HDAC9	GO:0050710	negative regulation of cytokine secretion	28855441
Hgene	HDAC9	GO:0051005	negative regulation of lipoprotein lipase activity	28855441
Hgene	HDAC9	GO:0070932	histone H3 deacetylation	12590135
Hgene	HDAC9	GO:0070933	histone H4 deacetylation	12590135
Hgene	HDAC9	GO:1990678	histone H4-K16 deacetylation	28855441
Tgene	RPL8	GO:0002181	cytoplasmic translation	25957688

Fusion gene breakpoints across HDAC9 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across RPL8 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChiTaRS5.0	N/A	BP429833	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+

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Fusion Gene ORF analysis for HDAC9-RPL8

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-intron	ENST00000401921	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000401921	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000401921	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000401921	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000401921	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000405010	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000405010	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000405010	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000405010	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000405010	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406072	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406072	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406072	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406072	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406072	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406451	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406451	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406451	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406451	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000406451	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000417496	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000417496	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000417496	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000417496	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000417496	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000428307	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000428307	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000428307	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000428307	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000428307	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000432645	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000432645	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000432645	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000432645	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000432645	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000441542	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000441542	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000441542	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000441542	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000441542	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000456174	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000456174	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000456174	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000456174	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000456174	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000476135	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000476135	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000476135	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000476135	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000476135	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000524023	ENST00000262584	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000524023	ENST00000394920	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000524023	ENST00000527914	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000524023	ENST00000528957	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+
intron-intron	ENST00000524023	ENST00000529163	HDAC9	chr7	18458046	-	RPL8	chr8	146015154	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for HDAC9-RPL8

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

Distribution 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.

Distribution 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 HDAC9-RPL8

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:18458046/:146015154)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
HDAC9 Q9UKV0	.
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. Represses MEF2-dependent transcription.; FUNCTION: Isoform 3 lacks active site residues and therefore is catalytically inactive. Represses MEF2-dependent transcription by recruiting HDAC1 and/or HDAC3. Seems to inhibit skeletal myogenesis and to be involved in heart development. Protects neurons from apoptosis, both by inhibiting JUN phosphorylation by MAPK10 and by repressing JUN transcription via HDAC1 recruitment to JUN promoter.	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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for HDAC9-RPL8

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 HDAC9-RPL8

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for HDAC9-RPL8

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for HDAC9-RPL8

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source