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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:CREB3L4-L2HGDH (FusionGDB2 ID:19335)

Fusion Gene Summary for CREB3L4-L2HGDH

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB3L4-L2HGDH
Fusion gene ID: 19335
HgeneTgene
Gene symbol

CREB3L4

L2HGDH

Gene ID

148327

79944

Gene namecAMP responsive element binding protein 3 like 4L-2-hydroxyglutarate dehydrogenase
SynonymsAIBZIP|ATCE1|CREB3|CREB4|JAL|hJALC14orf160|L2HGA
Cytomap

1q21.3

14q21.3

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 3-like protein 4CREB-4androgen-induced basic leucine zipper proteinattaching to CRE-like 1cAMP responsive element binding protein 1cAMP-responsive element-binding protein 3-like protein 4cAMP-responsive L-2-hydroxyglutarate dehydrogenase, mitochondrial2-hydroxyglutarate dehydrogenaseL-alpha-hydroxyglutarate dehydrogenasealpha-hydroxyglutarate oxidoreductasealpha-ketoglutarate reductaseduranin
Modification date2020031320200313
UniProtAcc

Q8TEY5

Q9H9P8

Ensembl transtripts involved in fusion geneENST00000271889, ENST00000368600, 
ENST00000368603, ENST00000368607, 
ENST00000405694, ENST00000368601, 
ENST00000468845, 		ENST00000261699, 
ENST00000267436, ENST00000421284, 
ENST00000555423, ENST00000555610, 
ENST00000556393, 
Fusion gene scores* DoF score6 X 5 X 2=6011 X 9 X 6=594
# samples 613
** MAII scorelog2(6/60*10)=0log2(13/594*10)=-2.19195130777231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CREB3L4 [Title/Abstract] AND L2HGDH [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREB3L4(153946835)-L2HGDH(50726105), # 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
HgeneCREB3L4

GO:0045944

positive regulation of transcription by RNA polymerase II

16236796

TgeneL2HGDH

GO:0044267

cellular protein metabolic process

16005139


check buttonFusion gene breakpoints across CREB3L4 (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 L2HGDH (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/ABX647716CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-


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Fusion Gene ORF analysis for CREB3L4-L2HGDH

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
5CDS-intronENST00000271889ENST00000261699CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000271889ENST00000267436CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000271889ENST00000421284CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000271889ENST00000555423CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000271889ENST00000555610CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000271889ENST00000556393CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368600ENST00000261699CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368600ENST00000267436CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368600ENST00000421284CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368600ENST00000555423CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368600ENST00000555610CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368600ENST00000556393CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368603ENST00000261699CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368603ENST00000267436CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368603ENST00000421284CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368603ENST00000555423CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368603ENST00000555610CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368603ENST00000556393CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368607ENST00000261699CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368607ENST00000267436CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368607ENST00000421284CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368607ENST00000555423CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368607ENST00000555610CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000368607ENST00000556393CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000405694ENST00000261699CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000405694ENST00000267436CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000405694ENST00000421284CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000405694ENST00000555423CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000405694ENST00000555610CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
5CDS-intronENST00000405694ENST00000556393CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000368601ENST00000261699CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000368601ENST00000267436CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000368601ENST00000421284CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000368601ENST00000555423CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000368601ENST00000555610CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000368601ENST00000556393CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000468845ENST00000261699CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000468845ENST00000267436CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000468845ENST00000421284CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000468845ENST00000555423CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000468845ENST00000555610CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-
intron-intronENST00000468845ENST00000556393CREB3L4chr1

153946835

+L2HGDHchr14

50726105

-

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 CREB3L4-L2HGDH


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 CREB3L4-L2HGDH


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/:153946835/:50726105)
- 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
CREB3L4

Q8TEY5

L2HGDH

Q9H9P8

FUNCTION: Transcriptional activator that may play a role in the unfolded protein response. Binds to the UPR element (UPRE) but not to CRE element. Preferentially binds DNA with to the consensus sequence 5'-T[GT]ACGT[GA][GT]-3' and has transcriptional activation activity from UPRE. Binds to NF-kappa-B site and has transcriptional activation activity from NF-kappa-B-containing regulatory elements (By similarity). {ECO:0000250, ECO:0000269|PubMed:16236796}.

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 CREB3L4-L2HGDH


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 CREB3L4-L2HGDH


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 CREB3L4-L2HGDH


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 CREB3L4-L2HGDH


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