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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:GABARAPL1-CEACAM6 (FusionGDB2 ID:32057)

Fusion Gene Summary for GABARAPL1-CEACAM6

check button Fusion gene summary
Fusion gene informationFusion gene name: GABARAPL1-CEACAM6
Fusion gene ID: 32057
HgeneTgene
Gene symbol

GABARAPL1

CEACAM6

Gene ID

23710

4680

Gene nameGABA type A receptor associated protein like 1CEA cell adhesion molecule 6
SynonymsAPG8-LIKE|APG8L|ATG8|ATG8B|ATG8L|GEC1CD66c|CEAL|NCA
Cytomap

12p13.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptiongamma-aminobutyric acid receptor-associated protein-like 1GABA(A) receptor-associated protein-like 1early estrogen-regulated proteinglandular epithelial cell protein 1carcinoembryonic antigen-related cell adhesion molecule 6Cluster of Differentiation 66ccarcinoembryonic antigen related cell adhesion molecule 6carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)normal cross
Modification date2020032720200313
UniProtAcc

Q9H0R8

P40199

Ensembl transtripts involved in fusion geneENST00000266458, ENST00000539170, 
ENST00000545887, ENST00000546017, 
ENST00000421801, ENST00000535576, 
ENST00000539289, ENST00000543602, 
ENST00000544284, ENST00000545047, 
ENST00000199764, 
Fusion gene scores* DoF score2 X 2 X 2=810 X 10 X 5=500
# samples 211
** MAII scorelog2(2/8*10)=1.32192809488736log2(11/500*10)=-2.18442457113743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GABARAPL1 [Title/Abstract] AND CEACAM6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGABARAPL1(10374558)-CEACAM6(42259445), # 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

check buttonFusion gene breakpoints across GABARAPL1 (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 CEACAM6 (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-HU-8238-01AGABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+


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Fusion Gene ORF analysis for GABARAPL1-CEACAM6

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
3UTR-5UTRENST00000266458ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
3UTR-5UTRENST00000539170ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
3UTR-5UTRENST00000545887ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
3UTR-5UTRENST00000546017ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
intron-5UTRENST00000421801ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
intron-5UTRENST00000535576ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
intron-5UTRENST00000539289ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
intron-5UTRENST00000543602ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
intron-5UTRENST00000544284ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+
intron-5UTRENST00000545047ENST00000199764GABARAPL1chr12

10374558

+CEACAM6chr19

42259445

+

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 GABARAPL1-CEACAM6


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 GABARAPL1-CEACAM6


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/:10374558/:42259445)
- 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
GABARAPL1

Q9H0R8

CEACAM6

P40199

FUNCTION: Ubiquitin-like modifier that increases cell-surface expression of kappa-type opioid receptor through facilitating anterograde intracellular trafficking of the receptor (PubMed:16431922). Involved in formation of autophagosomal vacuoles (PubMed:20404487). While LC3s are involved in elongation of the phagophore membrane, the GABARAP/GATE-16 subfamily is essential for a later stage in autophagosome maturation (PubMed:20404487). Through its interaction with the reticulophagy receptor TEX264, participates in the remodeling of subdomains of the endoplasmic reticulum into autophagosomes upon nutrient stress, which then fuse with lysosomes for endoplasmic reticulum turnover (PubMed:31006538, PubMed:31006537). {ECO:0000269|PubMed:16431922, ECO:0000269|PubMed:20404487, ECO:0000269|PubMed:31006537, ECO:0000269|PubMed:31006538}.FUNCTION: Cell surface glycoprotein that plays a role in cell adhesion and tumor progression (PubMed:2803308, PubMed:2022629, PubMed:1378450, PubMed:8776764, PubMed:11590190, PubMed:10910050, PubMed:14724575, PubMed:16204051). Intercellular adhesion occurs in a calcium- and fibronectin-independent manner (PubMed:2022629, PubMed:16204051). Mediates homophilic and heterophilic cell adhesion with other carcinoembryonic antigen-related cell adhesion molecules, such as CEACAM5 and CEACAM8 (PubMed:2803308, PubMed:2022629, PubMed:8776764, PubMed:11590190, PubMed:16204051). Heterophilic interaction with CEACAM8 occurs in activated neutrophils (PubMed:8776764). Plays a role in neutrophil adhesion to cytokine-activated endothelial cells (PubMed:1378450). Plays a role as an oncogene by promoting tumor progression; positively regulates cell migration, cell adhesion to endothelial cells and cell invasion (PubMed:16204051). Also involved in the metastatic cascade process by inducing gain resistance to anoikis of pancreatic adenocarcinoma and colorectal carcinoma cells (PubMed:10910050, PubMed:14724575). {ECO:0000269|PubMed:10910050, ECO:0000269|PubMed:11590190, ECO:0000269|PubMed:1378450, ECO:0000269|PubMed:14724575, ECO:0000269|PubMed:16204051, ECO:0000269|PubMed:2022629, ECO:0000269|PubMed:2803308, ECO:0000269|PubMed:8776764}.

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 GABARAPL1-CEACAM6


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 GABARAPL1-CEACAM6


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 GABARAPL1-CEACAM6


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 GABARAPL1-CEACAM6


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