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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:SH2B1-GABARAPL1 (FusionGDB2 ID:81374)

Fusion Gene Summary for SH2B1-GABARAPL1

check button Fusion gene summary
Fusion gene informationFusion gene name: SH2B1-GABARAPL1
Fusion gene ID: 81374
HgeneTgene
Gene symbol

SH2B1

GABARAPL1

Gene ID

25970

23710

Gene nameSH2B adaptor protein 1GABA type A receptor associated protein like 1
SynonymsPSM|SH2BAPG8-LIKE|APG8L|ATG8|ATG8B|ATG8L|GEC1
Cytomap

16p11.2

12p13.2

Type of geneprotein-codingprotein-coding
DescriptionSH2B adapter protein 1SH2 domain-containing protein 1BSH2 domain-containing putative adapter SH2-BSH2-B signaling proteinpro-rich, PH and SH2 domain-containing signaling mediatorgamma-aminobutyric acid receptor-associated protein-like 1GABA(A) receptor-associated protein-like 1early estrogen-regulated proteinglandular epithelial cell protein 1
Modification date2020032720200327
UniProtAcc.

Q9H0R8

Ensembl transtripts involved in fusion geneENST00000563674, ENST00000337120, 
ENST00000359285, ENST00000538342, 
ENST00000322610, ENST00000395532, 
ENST00000545570, 		ENST00000266458, 
ENST00000421801, ENST00000539289, 
ENST00000535576, ENST00000539170, 
ENST00000544284, ENST00000546017, 
ENST00000543602, ENST00000545047, 
ENST00000545887, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 5 X 2=50
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/50*10)=0
Context

PubMed: SH2B1 [Title/Abstract] AND GABARAPL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSH2B1(28875269)-GABARAPL1(10370659), # 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 SH2B1 (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 GABARAPL1 (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/AAA296513SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+


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Fusion Gene ORF analysis for SH2B1-GABARAPL1

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-3CDSENST00000563674ENST00000266458SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-3CDSENST00000563674ENST00000421801SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-3UTRENST00000563674ENST00000539289SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-5UTRENST00000563674ENST00000535576SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-5UTRENST00000563674ENST00000539170SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-5UTRENST00000563674ENST00000544284SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-5UTRENST00000563674ENST00000546017SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-intronENST00000563674ENST00000543602SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-intronENST00000563674ENST00000545047SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
3UTR-intronENST00000563674ENST00000545887SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3CDSENST00000337120ENST00000266458SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3CDSENST00000337120ENST00000421801SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3CDSENST00000359285ENST00000266458SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3CDSENST00000359285ENST00000421801SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3CDSENST00000538342ENST00000266458SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3CDSENST00000538342ENST00000421801SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3UTRENST00000337120ENST00000539289SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3UTRENST00000359285ENST00000539289SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-3UTRENST00000538342ENST00000539289SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000337120ENST00000535576SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000337120ENST00000539170SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000337120ENST00000544284SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000337120ENST00000546017SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000359285ENST00000535576SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000359285ENST00000539170SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000359285ENST00000544284SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000359285ENST00000546017SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000538342ENST00000535576SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000538342ENST00000539170SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000538342ENST00000544284SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-5UTRENST00000538342ENST00000546017SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000337120ENST00000543602SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000337120ENST00000545047SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000337120ENST00000545887SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000359285ENST00000543602SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000359285ENST00000545047SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000359285ENST00000545887SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000538342ENST00000543602SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000538342ENST00000545047SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
5UTR-intronENST00000538342ENST00000545887SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3CDSENST00000322610ENST00000266458SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3CDSENST00000322610ENST00000421801SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3CDSENST00000395532ENST00000266458SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3CDSENST00000395532ENST00000421801SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3CDSENST00000545570ENST00000266458SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3CDSENST00000545570ENST00000421801SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3UTRENST00000322610ENST00000539289SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3UTRENST00000395532ENST00000539289SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-3UTRENST00000545570ENST00000539289SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000322610ENST00000535576SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000322610ENST00000539170SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000322610ENST00000544284SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000322610ENST00000546017SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000395532ENST00000535576SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000395532ENST00000539170SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000395532ENST00000544284SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000395532ENST00000546017SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000545570ENST00000535576SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000545570ENST00000539170SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000545570ENST00000544284SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-5UTRENST00000545570ENST00000546017SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000322610ENST00000543602SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000322610ENST00000545047SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000322610ENST00000545887SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000395532ENST00000543602SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000395532ENST00000545047SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000395532ENST00000545887SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000545570ENST00000543602SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000545570ENST00000545047SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+
intron-intronENST00000545570ENST00000545887SH2B1chr16

28875269

+GABARAPL1chr12

10370659

+

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 SH2B1-GABARAPL1


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)
SH2B1chr1628875266+GABARAPL1chr1210370661+4.92E-121
SH2B1chr1628875266+GABARAPL1chr1210370661+4.92E-121

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 SH2B1-GABARAPL1


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/:28875269/:10370659)
- 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

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: 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}.

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 SH2B1-GABARAPL1


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 SH2B1-GABARAPL1


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 SH2B1-GABARAPL1


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 SH2B1-GABARAPL1


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