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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:GULP1-AKT3 (FusionGDB2 ID:35371)

Fusion Gene Summary for GULP1-AKT3

check button Fusion gene summary
Fusion gene informationFusion gene name: GULP1-AKT3
Fusion gene ID: 35371
HgeneTgene
Gene symbol

GULP1

AKT3

Gene ID

51454

10000

Gene nameGULP PTB domain containing engulfment adaptor 1AKT serine/threonine kinase 3
SynonymsCED-6|CED6|GULPMPPH|MPPH2|PKB-GAMMA|PKBG|PRKBG|RAC-PK-gamma|RAC-gamma|STK-2
Cytomap

2q32.1-q32.2

1q43-q44

Type of geneprotein-codingprotein-coding
DescriptionPTB domain-containing engulfment adapter protein 1GULP, engulfment adaptor PTB domain containing 1PTB domain adapter protein CED-6PTB domain adaptor protein CED-6cell death protein 6 homologengulfment adapter proteinRAC-gamma serine/threonine-protein kinasePKB gammaRAC-gamma serine/threonine protein kinasev-akt murine thymoma viral oncogene homolog 3 (protein kinase B, gamma)
Modification date2020031320200313
UniProtAcc

Q9UBP9

Q9Y243

Ensembl transtripts involved in fusion geneENST00000479019, ENST00000359135, 
ENST00000409580, ENST00000409609, 
ENST00000409637, ENST00000409805, 
ENST00000409830, ENST00000409843, 
ENST00000410051, 		ENST00000263826, 
ENST00000336199, ENST00000366539, 
ENST00000366540, ENST00000492957, 
Fusion gene scores* DoF score12 X 10 X 6=72019 X 18 X 8=2736
# samples 1219
** MAII scorelog2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/2736*10)=-3.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GULP1 [Title/Abstract] AND AKT3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGULP1(189331296)-AKT3(243961366), # 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
HgeneGULP1

GO:0006911

phagocytosis, engulfment

11729193

TgeneAKT3

GO:0043536

positive regulation of blood vessel endothelial cell migration

28254819

TgeneAKT3

GO:1905564

positive regulation of vascular endothelial cell proliferation

28254819


check buttonFusion gene breakpoints across GULP1 (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 AKT3 (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/ABP277880GULP1chr2

189331296

+AKT3chr1

243961366

+


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Fusion Gene ORF analysis for GULP1-AKT3

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-intronENST00000479019ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
3UTR-intronENST00000479019ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
3UTR-intronENST00000479019ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
3UTR-intronENST00000479019ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
3UTR-intronENST00000479019ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000359135ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000359135ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000359135ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000359135ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000359135ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409580ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409580ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409580ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409580ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409580ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409609ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409609ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409609ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409609ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409609ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409637ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409637ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409637ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409637ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409637ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409805ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409805ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409805ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409805ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409805ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409830ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409830ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409830ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409830ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409830ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409843ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409843ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409843ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409843ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000409843ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000410051ENST00000263826GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000410051ENST00000336199GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000410051ENST00000366539GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000410051ENST00000366540GULP1chr2

189331296

+AKT3chr1

243961366

+
intron-intronENST00000410051ENST00000492957GULP1chr2

189331296

+AKT3chr1

243961366

+

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 GULP1-AKT3


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 GULP1-AKT3


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/:189331296/:243961366)
- 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
GULP1

Q9UBP9

AKT3

Q9Y243

FUNCTION: May function as an adapter protein. Required for efficient phagocytosis of apoptotic cells. Modulates cellular glycosphingolipid and cholesterol transport. May play a role in the internalization and endosomal trafficking of various LRP1 ligands, such as PSAP. Increases cellular levels of GTP-bound ARF6. {ECO:0000269|PubMed:10574763, ECO:0000269|PubMed:10574771, ECO:0000269|PubMed:16497666, ECO:0000269|PubMed:17398097}.FUNCTION: AKT3 is one of 3 closely related serine/threonine-protein kinases (AKT1, AKT2 and AKT3) called the AKT kinase, and which regulate many processes including metabolism, proliferation, cell survival, growth and angiogenesis. This is mediated through serine and/or threonine phosphorylation of a range of downstream substrates. Over 100 substrate candidates have been reported so far, but for most of them, no isoform specificity has been reported. AKT3 is the least studied AKT isoform. It plays an important role in brain development and is crucial for the viability of malignant glioma cells. AKT3 isoform may also be the key molecule in up-regulation and down-regulation of MMP13 via IL13. Required for the coordination of mitochondrial biogenesis with growth factor-induced increases in cellular energy demands. Down-regulation by RNA interference reduces the expression of the phosphorylated form of BAD, resulting in the induction of caspase-dependent apoptosis. {ECO:0000269|PubMed:18524868, ECO:0000269|PubMed:21191416}.

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 GULP1-AKT3


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 GULP1-AKT3


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 GULP1-AKT3


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 GULP1-AKT3


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