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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:FHL1-RANBP3 (FusionGDB2 ID:HG2273TG8498)

Fusion Gene Summary for FHL1-RANBP3

Fusion gene summary

Fusion gene information	Fusion gene name: FHL1-RANBP3
	Fusion gene ID: hg2273tg8498
		Hgene	Tgene
	Gene symbol	FHL1	RANBP3
	Gene ID	2273	8498
	Gene name	four and a half LIM domains 1	RAN binding protein 3
	Synonyms	FCMSU\|FHL-1\|FHL1A\|FHL1B\|FLH1A\|KYOT\|RBMX1A\|RBMX1B\|SLIM\|SLIM-1\|SLIM1\|SLIMMER\|XMPMA	-
	Cytomap	('FHL1')('RANBP3') Xq26.3	19p13.3
	Type of gene	protein-coding	protein-coding
	Description	four and a half LIM domains protein 1LIM protein SLIMMERfour-and-a-half Lin11, Isl-1 and Mec-3 domains 1skeletal muscle LIM-protein 1	ran-binding protein 3epididymis secretory sperm binding protein
	Modification date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000345434, ENST00000370676, ENST00000370683, ENST00000370690, ENST00000394153, ENST00000394155, ENST00000477080, ENST00000535737, ENST00000539015, ENST00000543669,
Fusion gene scores	* DoF score	6 X 4 X 3=72	10 X 10 X 6=600
	# samples	6	10
	** MAII score	log2(6/72*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(10/600*10)=-2.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: FHL1 [Title/Abstract] AND RANBP3 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	FHL1(135280533)-RANBP3(5916156), # 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	FHL1	GO:0003254	regulation of membrane depolarization	18281375
Hgene	FHL1	GO:0010972	negative regulation of G2/M transition of mitotic cell cycle	21702045
Hgene	FHL1	GO:0030308	negative regulation of cell growth	21702045
Hgene	FHL1	GO:0043268	positive regulation of potassium ion transport	18281375
Hgene	FHL1	GO:1901016	regulation of potassium ion transmembrane transporter activity	18281375
Hgene	FHL1	GO:2000134	negative regulation of G1/S transition of mitotic cell cycle	21702045

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	EC574788	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+

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Fusion Gene ORF analysis for FHL1-RANBP3

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-3UTR	ENST00000345434	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000345434	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000370676	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000370676	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000370683	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000370683	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000370690	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000370690	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000394153	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000394153	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000394155	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000394155	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000477080	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000477080	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000535737	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000535737	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000539015	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000539015	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000543669	ENST00000340578	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-3UTR	ENST00000543669	ENST00000439268	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000345434	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000345434	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000345434	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000345434	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370676	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370676	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370676	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370676	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370683	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370683	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370683	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370683	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370690	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370690	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370690	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000370690	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394153	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394153	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394153	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394153	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394155	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394155	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394155	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000394155	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000477080	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000477080	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000477080	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000477080	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000535737	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000535737	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000535737	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000535737	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000539015	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000539015	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000539015	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000539015	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000543669	ENST00000034275	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000543669	ENST00000541471	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000543669	ENST00000591092	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+
intron-intron	ENST00000543669	ENST00000591124	FHL1	chrX	135280533	+	RANBP3	chr19	5916156	+

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 FHL1-RANBP3

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)

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Fusion Protein Features for FHL1-RANBP3

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:135280533/:5916156)
- 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
.	.
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}.

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 FHL1-RANBP3

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 FHL1-RANBP3

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 FHL1-RANBP3

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 FHL1-RANBP3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	FHL1	C4225159	REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET	6	GENOMICS_ENGLAND;UNIPROT
Hgene	FHL1	C2678055	MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	FHL1	C4225423	REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET	4	GENOMICS_ENGLAND;UNIPROT
Hgene	FHL1	C2678061	SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT	3	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Hgene	FHL1	C0023893	Liver Cirrhosis, Experimental	1	CTD_human
Hgene	FHL1	C0270970	Reducing-body myopathy	1	ORPHANET
Hgene	FHL1	C1135196	Heart Failure, Diastolic	1	CTD_human
Hgene	FHL1	C1846010	URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME	1	GENOMICS_ENGLAND

Fusion Gene Studies in Kim Lab

Fusion gene:FHL1-RANBP3 (FusionGDB2 ID:HG2273TG8498)

Fusion Gene Summary for FHL1-RANBP3

Fusion Gene ORF analysis for FHL1-RANBP3

Fusion Genomic Features for FHL1-RANBP3

Fusion Protein Features for FHL1-RANBP3

Fusion Gene Sequence for FHL1-RANBP3

Fusion Gene PPI Analysis for FHL1-RANBP3

Related Drugs for FHL1-RANBP3

Related Diseases for FHL1-RANBP3

Fusion Gene Studies
in Kim Lab