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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:ASPH-ACTN1 (FusionGDB2 ID:7198)

Fusion Gene Summary for ASPH-ACTN1

Fusion gene summary

Fusion gene information	Fusion gene name: ASPH-ACTN1
	Fusion gene ID: 7198
		Hgene	Tgene
	Gene symbol	ASPH	ACTN1
	Gene ID	444	87
	Gene name	aspartate beta-hydroxylase	actinin alpha 1
	Synonyms	AAH\|BAH\|CASQ2BP1\|FDLAB\|HAAH\|JCTN\|junctin	BDPLT15
	Cytomap	8q12.3	14q24.1\|14q22-q24
	Type of gene	protein-coding	protein-coding
	Description	aspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenase	alpha-actinin-1F-actin cross-linking proteinactinin 1 smooth musclealpha-actinin cytoskeletal isoformepididymis secretory sperm binding proteinnon-muscle alpha-actinin-1
	Modification date	20200315	20200327
	UniProtAcc	Q12797	P12814
	Ensembl transtripts involved in fusion gene	ENST00000356457, ENST00000379449, ENST00000379454, ENST00000389204, ENST00000445642, ENST00000517661, ENST00000517847, ENST00000517856, ENST00000517903, ENST00000518068, ENST00000522603, ENST00000522835, ENST00000522919, ENST00000523897, ENST00000541428,	ENST00000193403, ENST00000376839, ENST00000394419, ENST00000438964, ENST00000538545, ENST00000554508,
Fusion gene scores	* DoF score	20 X 16 X 7=2240	17 X 18 X 5=1530
	# samples	21	20
	** MAII score	log2(21/2240*10)=-3.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(20/1530*10)=-2.93545974780529 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: ASPH [Title/Abstract] AND ACTN1 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	ASPH(62509753)-ACTN1(69341019), # 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	ASPH	GO:0045862	positive regulation of proteolysis	18387192
Hgene	ASPH	GO:0097202	activation of cysteine-type endopeptidase activity	18387192

Fusion gene breakpoints across ASPH (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 ACTN1 (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	CB049245	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+

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Fusion Gene ORF analysis for ASPH-ACTN1

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	ENST00000356457	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000379449	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000379454	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000389204	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000445642	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000517661	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000517847	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000517856	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000517903	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000518068	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000522603	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000522835	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000522919	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000523897	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-3UTR	ENST00000541428	ENST00000193403	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000356457	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000356457	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000356457	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000356457	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000356457	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379449	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379449	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379449	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379449	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379449	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379454	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379454	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379454	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379454	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000379454	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000389204	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000389204	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000389204	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000389204	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000389204	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000445642	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000445642	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000445642	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000445642	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000445642	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517661	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517661	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517661	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517661	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517661	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517847	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517847	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517847	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517847	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517847	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517856	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517856	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517856	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517856	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517856	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517903	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517903	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517903	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517903	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000517903	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000518068	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000518068	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000518068	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000518068	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000518068	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522603	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522603	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522603	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522603	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522603	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522835	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522835	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522835	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522835	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522835	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522919	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522919	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522919	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522919	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000522919	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000523897	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000523897	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000523897	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000523897	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000523897	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000541428	ENST00000376839	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000541428	ENST00000394419	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000541428	ENST00000438964	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000541428	ENST00000538545	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+
intron-intron	ENST00000541428	ENST00000554508	ASPH	chr8	62509753	-	ACTN1	chr14	69341019	+

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 ASPH-ACTN1

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 ASPH-ACTN1

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:62509753/:69341019)
- 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
ASPH Q12797	ACTN1 P12814
FUNCTION: [Isoform 1]: specifically hydroxylates an Asp or Asn residue in certain epidermal growth factor-like (EGF) domains of a number of proteins. {ECO:0000269\|PubMed:11773073}.; FUNCTION: [Isoform 8]: membrane-bound Ca(2+)-sensing protein, which is a structural component of the ER-plasma membrane junctions. Isoform 8 regulates the activity of Ca(+2) released-activated Ca(+2) (CRAC) channels in T-cells. {ECO:0000269\|PubMed:22586105}.	FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

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 ASPH-ACTN1

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 ASPH-ACTN1

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 ASPH-ACTN1

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 ASPH-ACTN1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source