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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-BLVRA (FusionGDB2 ID:26238)

Fusion Gene Summary for ELMO1-BLVRA

check button Fusion gene summary
Fusion gene informationFusion gene name: ELMO1-BLVRA
Fusion gene ID: 26238
HgeneTgene
Gene symbol

ELMO1

BLVRA

Gene ID

9844

644

Gene nameengulfment and cell motility 1biliverdin reductase A
SynonymsCED-12|CED12|ELMO-1BLVR|BVR|BVRA
Cytomap

7p14.2-p14.1

7p13

Type of geneprotein-codingprotein-coding
Descriptionengulfment and cell motility protein 1ced-12 homolog 1biliverdin reductase ABVR Abiliverdin-IX alpha-reductasetestis tissue sperm-binding protein Li 61n
Modification date2020031320200329
UniProtAcc

Q92556

P53004

Ensembl transtripts involved in fusion geneENST00000310758, ENST00000448602, 
ENST00000479447, ENST00000341056, 
ENST00000396040, ENST00000396045, 
ENST00000442504, 		ENST00000265523, 
ENST00000402924, 
Fusion gene scores* DoF score12 X 13 X 6=9365 X 7 X 5=175
# samples 148
** MAII scorelog2(14/936*10)=-2.74108170263844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/175*10)=-1.12928301694497
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointELMO1(37488277)-BLVRA(43810736), # samples:1
ELMO1(37488278)-BLVRA(43810737), # samples:1
ELMO1(37488463)-BLVRA(43810737), # 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneBLVRA

GO:0055114

oxidation-reduction process

10858451


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 BLVRA (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
ChimerDB4GBMTCGA-32-1970-01AELMO1chr7

37488278

-BLVRAchr7

43810737

+
ChimerDB4GBMTCGA-32-1970-01AELMO1chr7

37488463

-BLVRAchr7

43810737

+
ChimerDB4GBMTCGA-32-1970ELMO1chr7

37488277

-BLVRAchr7

43810736

+


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Fusion Gene ORF analysis for ELMO1-BLVRA

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
5UTR-5UTRENST00000310758ENST00000265523ELMO1chr7

37488278

-BLVRAchr7

43810737

+
5UTR-5UTRENST00000310758ENST00000265523ELMO1chr7

37488277

-BLVRAchr7

43810736

+
5UTR-5UTRENST00000310758ENST00000402924ELMO1chr7

37488278

-BLVRAchr7

43810737

+
5UTR-5UTRENST00000310758ENST00000402924ELMO1chr7

37488277

-BLVRAchr7

43810736

+
5UTR-5UTRENST00000448602ENST00000265523ELMO1chr7

37488463

-BLVRAchr7

43810737

+
5UTR-5UTRENST00000448602ENST00000402924ELMO1chr7

37488463

-BLVRAchr7

43810737

+
5UTR-5UTRENST00000479447ENST00000265523ELMO1chr7

37488463

-BLVRAchr7

43810737

+
5UTR-5UTRENST00000479447ENST00000402924ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000310758ENST00000265523ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000310758ENST00000402924ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000341056ENST00000265523ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000341056ENST00000265523ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000341056ENST00000265523ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000341056ENST00000402924ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000341056ENST00000402924ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000341056ENST00000402924ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000396040ENST00000265523ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000396040ENST00000265523ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000396040ENST00000265523ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000396040ENST00000402924ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000396040ENST00000402924ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000396040ENST00000402924ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000396045ENST00000265523ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000396045ENST00000265523ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000396045ENST00000265523ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000396045ENST00000402924ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000396045ENST00000402924ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000396045ENST00000402924ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000442504ENST00000265523ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000442504ENST00000265523ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000442504ENST00000265523ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000442504ENST00000402924ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000442504ENST00000402924ELMO1chr7

37488463

-BLVRAchr7

43810737

+
intron-5UTRENST00000442504ENST00000402924ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000448602ENST00000265523ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000448602ENST00000265523ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000448602ENST00000402924ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000448602ENST00000402924ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000479447ENST00000265523ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000479447ENST00000265523ELMO1chr7

37488277

-BLVRAchr7

43810736

+
intron-5UTRENST00000479447ENST00000402924ELMO1chr7

37488278

-BLVRAchr7

43810737

+
intron-5UTRENST00000479447ENST00000402924ELMO1chr7

37488277

-BLVRAchr7

43810736

+

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-BLVRA


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)
ELMO1chr737488277-BLVRAchr743810736+0.57500410.42499596
ELMO1chr737488277-BLVRAchr743810736+0.57500410.42499596
ELMO1chr737488462-BLVRAchr743810736+0.556721150.44327885
ELMO1chr737488277-BLVRAchr743810736+0.57500410.42499596
ELMO1chr737488277-BLVRAchr743810736+0.57500410.42499596
ELMO1chr737488462-BLVRAchr743810736+0.556721150.44327885

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.
genomic feature of top 1%

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Fusion Protein Features for ELMO1-BLVRA


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/:37488277/:43810736)
- 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

BLVRA

P53004

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: Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IX alpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor.

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-BLVRA


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-BLVRA


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-BLVRA


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-BLVRA


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