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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:CREB3L1-ATG13 (FusionGDB2 ID:19310)

Fusion Gene Summary for CREB3L1-ATG13

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB3L1-ATG13
Fusion gene ID: 19310
HgeneTgene
Gene symbol

CREB3L1

ATG13

Gene ID

90993

9776

Gene namecAMP responsive element binding protein 3 like 1autophagy related 13
SynonymsOASIS|OI16KIAA0652|PARATARG8
Cytomap

11p11.2

11p11.2

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 3-like protein 1BBF-2 homologcAMP-responsive element-binding protein 3-like protein 1old astrocyte specifically-induced substanceautophagy-related protein 13ATG13 autophagy related 13 homolog
Modification date2020032720200327
UniProtAcc

Q96BA8

O75143

Ensembl transtripts involved in fusion geneENST00000288400, ENST00000529193, 
ENST00000534616, 
ENST00000312040, 
ENST00000359513, ENST00000434074, 
ENST00000451945, ENST00000524625, 
ENST00000526508, ENST00000528494, 
ENST00000529655, ENST00000526485, 
ENST00000530500, 
Fusion gene scores* DoF score6 X 6 X 2=727 X 6 X 7=294
# samples 78
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/294*10)=-1.877744249949
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CREB3L1 [Title/Abstract] AND ATG13 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREB3L1(46299764)-ATG13(46651595), # 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
HgeneCREB3L1

GO:0010629

negative regulation of gene expression

27121396

HgeneCREB3L1

GO:0032967

positive regulation of collagen biosynthetic process

25310401

HgeneCREB3L1

GO:0040037

negative regulation of fibroblast growth factor receptor signaling pathway

27121396

HgeneCREB3L1

GO:0045892

negative regulation of transcription, DNA-templated

27121396


check buttonFusion gene breakpoints across CREB3L1 (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 ATG13 (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
ChimerDB4STADTCGA-FP-8099-01ACREB3L1chr11

46299764

+ATG13chr11

46651595

+
ChimerDB4STADTCGA-FP-8099-01ACREB3L1chr11

46299764

+ATG13chr11

46665829

+


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Fusion Gene ORF analysis for CREB3L1-ATG13

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-5UTRENST00000288400ENST00000312040CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-5UTRENST00000288400ENST00000312040CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000288400ENST00000359513CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000288400ENST00000434074CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000288400ENST00000451945CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000288400ENST00000524625CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-5UTRENST00000288400ENST00000524625CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000288400ENST00000526508CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000288400ENST00000528494CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000288400ENST00000529655CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000312040CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-5UTRENST00000529193ENST00000312040CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000359513CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000434074CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000451945CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000524625CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-5UTRENST00000529193ENST00000524625CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000526508CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000528494CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-5UTRENST00000529193ENST00000529655CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-intronENST00000288400ENST00000359513CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000434074CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000451945CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000526485CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000526485CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-intronENST00000288400ENST00000526508CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000528494CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000529655CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000530500CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000288400ENST00000530500CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-intronENST00000529193ENST00000359513CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000434074CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000451945CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000526485CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000526485CREB3L1chr11

46299764

+ATG13chr11

46665829

+
5CDS-intronENST00000529193ENST00000526508CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000528494CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000529655CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000530500CREB3L1chr11

46299764

+ATG13chr11

46651595

+
5CDS-intronENST00000529193ENST00000530500CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000312040CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-5UTRENST00000534616ENST00000312040CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000359513CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000434074CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000451945CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000524625CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-5UTRENST00000534616ENST00000524625CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000526508CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000528494CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-5UTRENST00000534616ENST00000529655CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-intronENST00000534616ENST00000359513CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000434074CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000451945CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000526485CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000526485CREB3L1chr11

46299764

+ATG13chr11

46665829

+
intron-intronENST00000534616ENST00000526508CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000528494CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000529655CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000530500CREB3L1chr11

46299764

+ATG13chr11

46651595

+
intron-intronENST00000534616ENST00000530500CREB3L1chr11

46299764

+ATG13chr11

46665829

+

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 CREB3L1-ATG13


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)
CREB3L1chr1146299764+ATG13chr1146651594+3.99E-081
CREB3L1chr1146299764+ATG13chr1146665828+5.06E-101
CREB3L1chr1146299764+ATG13chr1146651594+3.99E-081
CREB3L1chr1146299764+ATG13chr1146665828+5.06E-101

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 CREB3L1-ATG13


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/:46299764/:46651595)
- 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
CREB3L1

Q96BA8

ATG13

O75143

FUNCTION: Transcription factor involved in unfolded protein response (UPR). Binds the DNA consensus sequence 5'-GTGXGCXGC-3' (PubMed:21767813). In the absence of endoplasmic reticulum (ER) stress, inserted into ER membranes, with N-terminal DNA-binding and transcription activation domains oriented toward the cytosolic face of the membrane. In response to ER stress, transported to the Golgi, where it is cleaved in a site-specific manner by resident proteases S1P/MBTPS1 and S2P/MBTPS2. The released N-terminal cytosolic domain is translocated to the nucleus to effect transcription of specific target genes. Plays a critical role in bone formation through the transcription of COL1A1, and possibly COL1A2, and the secretion of bone matrix proteins. Directly binds to the UPR element (UPRE)-like sequence in an osteoblast-specific COL1A1 promoter region and induces its transcription. Does not regulate COL1A1 in other tissues, such as skin (By similarity). Required to protect astrocytes from ER stress-induced cell death. In astrocytes, binds to the cAMP response element (CRE) of the BiP/HSPA5 promoter and participate in its transcriptional activation (By similarity). Required for TGFB1 to activate genes involved in the assembly of collagen extracellular matrix (PubMed:25310401). {ECO:0000250|UniProtKB:Q9Z125, ECO:0000269|PubMed:12054625, ECO:0000269|PubMed:21767813, ECO:0000269|PubMed:25310401}.; FUNCTION: (Microbial infection) May play a role in limiting virus spread by inhibiting proliferation of virus-infected cells. Upon infection with diverse DNA and RNA viruses, inhibits cell-cycle progression by binding to promoters and activating transcription of genes encoding cell-cycle inhibitors, such as p21/CDKN1A (PubMed:21767813). {ECO:0000269|PubMed:21767813}.FUNCTION: Autophagy factor required for autophagosome formation and mitophagy. Target of the TOR kinase signaling pathway that regulates autophagy through the control of the phosphorylation status of ATG13 and ULK1, and the regulation of the ATG13-ULK1-RB1CC1 complex. Through its regulation of ULK1 activity, plays a role in the regulation of the kinase activity of mTORC1 and cell proliferation. {ECO:0000269|PubMed:18936157, ECO:0000269|PubMed:19211835, ECO:0000269|PubMed:19225151, ECO:0000269|PubMed:19287211, ECO:0000269|PubMed:21795849, ECO:0000269|PubMed:21855797}.

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 CREB3L1-ATG13


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 CREB3L1-ATG13


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 CREB3L1-ATG13


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 CREB3L1-ATG13


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