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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:ELOVL5-CRYL1 (FusionGDB2 ID:HG60481TG51084)

Fusion Gene Summary for ELOVL5-CRYL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ELOVL5-CRYL1
Fusion gene ID: hg60481tg51084
HgeneTgene
Gene symbol

ELOVL5

CRYL1

Gene ID

60481

51084

Gene nameELOVL fatty acid elongase 5crystallin lambda 1
SynonymsHELO1|SCA38|dJ483K16.1GDH|HEL30|gul3DH|lambda-CRY
Cytomap('ELOVL5')('CRYL1')

6p12.1

13q12.11

Type of geneprotein-codingprotein-coding
Descriptionelongation of very long chain fatty acids protein 53-keto acyl-CoA synthase ELOVL5ELOVL FA elongase 5ELOVL family member 5, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)fatty acid elongase 1homolog of yeast long chain polyunlambda-crystallin homologL-gulonate 3-dehydrogenasecrystallin, lamda 1epididymis luminal protein 30testicular tissue protein Li 44
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000304434, ENST00000370913, 
ENST00000370918, ENST00000486973, 
ENST00000541407, ENST00000542638, 
Fusion gene scores* DoF score8 X 2 X 7=11215 X 9 X 10=1350
# samples 817
** MAII scorelog2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(17/1350*10)=-2.98935275580049
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELOVL5 [Title/Abstract] AND CRYL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELOVL5(53213615)-CRYL1(21063635), # 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
HgeneELOVL5

GO:0034625

fatty acid elongation, monounsaturated fatty acid

20427700

HgeneELOVL5

GO:0034626

fatty acid elongation, polyunsaturated fatty acid

20427700|20937905

HgeneELOVL5

GO:0042761

very long-chain fatty acid biosynthetic process

20427700|20937905



check button Fusion gene information
* 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
ChimerDB4PRADTCGA-XJ-A9DQ-01AELOVL5chr6

53213615

-CRYL1chr13

21063635

-


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Fusion Gene ORF analysis for ELOVL5-CRYL1

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-3CDSENST00000304434ENST00000298248ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000304434ENST00000382812ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000370913ENST00000298248ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000370913ENST00000382812ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000370918ENST00000298248ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000370918ENST00000382812ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000486973ENST00000298248ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000486973ENST00000382812ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000541407ENST00000298248ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-3CDSENST00000541407ENST00000382812ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-intronENST00000304434ENST00000480748ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-intronENST00000370913ENST00000480748ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-intronENST00000370918ENST00000480748ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-intronENST00000486973ENST00000480748ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
5UTR-intronENST00000541407ENST00000480748ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
intron-3CDSENST00000542638ENST00000298248ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
intron-3CDSENST00000542638ENST00000382812ELOVL5chr6

53213615

-CRYL1chr13

21063635

-
intron-intronENST00000542638ENST00000480748ELOVL5chr6

53213615

-CRYL1chr13

21063635

-

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 ELOVL5-CRYL1


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)


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Fusion Protein Features for ELOVL5-CRYL1


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/:53213615/:21063635)
- 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
..
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}.

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 ELOVL5-CRYL1


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 ELOVL5-CRYL1


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 ELOVL5-CRYL1


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 ELOVL5-CRYL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneELOVL5C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneELOVL5C4518337Spinocerebellar ataxia type 381GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0520459Necrotizing Enterocolitis1CTD_human