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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:ELMO1-ARSA (FusionGDB2 ID:26237)

Fusion Gene Summary for ELMO1-ARSA

check button Fusion gene summary
Fusion gene informationFusion gene name: ELMO1-ARSA
Fusion gene ID: 26237
HgeneTgene
Gene symbol

ELMO1

ARSA

Gene ID

9844

410

Gene nameengulfment and cell motility 1arylsulfatase A
SynonymsCED-12|CED12|ELMO-1ASA|MLD
Cytomap

7p14.2-p14.1

22q13.33

Type of geneprotein-codingprotein-coding
Descriptionengulfment and cell motility protein 1ced-12 homolog 1arylsulfatase Acerebroside-sulfataseepididymis secretory sperm binding protein
Modification date2020031320200313
UniProtAcc

Q92556

P15289

Ensembl transtripts involved in fusion geneENST00000310758, ENST00000341056, 
ENST00000396040, ENST00000396045, 
ENST00000442504, ENST00000448602, 
ENST00000479447, 		ENST00000216124, 
ENST00000356098, ENST00000547307, 
ENST00000547805, ENST00000395619, 
ENST00000395621, ENST00000453344, 
ENST00000610191, 
Fusion gene scores* DoF score12 X 13 X 6=9362 X 2 X 1=4
# samples 142
** MAII scorelog2(14/936*10)=-2.74108170263844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: ELMO1 [Title/Abstract] AND ARSA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELMO1(36961945)-ARSA(51063456), # 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

check buttonFusion gene breakpoints across ELMO1 (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 ARSA (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
ChiTaRS5.0N/ABM145754ELMO1chr7

36961945

-ARSAchr22

51063456

+
ChiTaRS5.0N/ABM148694ELMO1chr7

36961945

-ARSAchr22

51063456

+


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Fusion Gene ORF analysis for ELMO1-ARSA

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-3UTRENST00000310758ENST00000216124ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000310758ENST00000356098ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000310758ENST00000547307ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000310758ENST00000547805ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000341056ENST00000216124ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000341056ENST00000356098ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000341056ENST00000547307ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000341056ENST00000547805ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396040ENST00000216124ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396040ENST00000356098ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396040ENST00000547307ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396040ENST00000547805ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396045ENST00000216124ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396045ENST00000356098ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396045ENST00000547307ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000396045ENST00000547805ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000442504ENST00000216124ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000442504ENST00000356098ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000442504ENST00000547307ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000442504ENST00000547805ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000448602ENST00000216124ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000448602ENST00000356098ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000448602ENST00000547307ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000448602ENST00000547805ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000479447ENST00000216124ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000479447ENST00000356098ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000479447ENST00000547307ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-3UTRENST00000479447ENST00000547805ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000310758ENST00000395619ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000310758ENST00000395621ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000310758ENST00000453344ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000310758ENST00000610191ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000341056ENST00000395619ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000341056ENST00000395621ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000341056ENST00000453344ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000341056ENST00000610191ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396040ENST00000395619ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396040ENST00000395621ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396040ENST00000453344ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396040ENST00000610191ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396045ENST00000395619ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396045ENST00000395621ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396045ENST00000453344ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000396045ENST00000610191ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000442504ENST00000395619ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000442504ENST00000395621ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000442504ENST00000453344ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000442504ENST00000610191ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000448602ENST00000395619ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000448602ENST00000395621ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000448602ENST00000453344ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000448602ENST00000610191ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000479447ENST00000395619ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000479447ENST00000395621ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000479447ENST00000453344ELMO1chr7

36961945

-ARSAchr22

51063456

+
intron-intronENST00000479447ENST00000610191ELMO1chr7

36961945

-ARSAchr22

51063456

+

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 ELMO1-ARSA


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 ELMO1-ARSA


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/:36961945/:51063456)
- 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
ELMO1

Q92556

ARSA

P15289

FUNCTION: Involved in cytoskeletal rearrangements required for phagocytosis of apoptotic cells and cell motility. Acts in association with DOCK1 and CRK. Was initially proposed to be required in complex with DOCK1 to activate Rac Rho small GTPases. May enhance the guanine nucleotide exchange factor (GEF) activity of DOCK1. {ECO:0000269|PubMed:11595183, ECO:0000269|PubMed:12134158}.FUNCTION: Hydrolyzes cerebroside sulfate. {ECO:0000269|PubMed:10751093, ECO:0000269|PubMed:24294900}.

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 ELMO1-ARSA


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 ELMO1-ARSA


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 ELMO1-ARSA


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 ELMO1-ARSA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource