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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:UBAP2L-AKT1S1 (FusionGDB2 ID:95926)

Fusion Gene Summary for UBAP2L-AKT1S1

check button Fusion gene summary
Fusion gene informationFusion gene name: UBAP2L-AKT1S1
Fusion gene ID: 95926
HgeneTgene
Gene symbol

UBAP2L

AKT1S1

Gene ID

9898

84335

Gene nameubiquitin associated protein 2 likeAKT1 substrate 1
SynonymsNICE-4|NICE4Lobe|PRAS40
Cytomap

1q21.3

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionubiquitin-associated protein 2-likeprotein NICE-4proline-rich AKT1 substrate 140 kDa proline-rich AKT substrateAKT1 substrate 1 (proline rich)
Modification date2020031320200313
UniProtAcc.

Q96B36

Ensembl transtripts involved in fusion geneENST00000271877, ENST00000343815, 
ENST00000361546, ENST00000428931, 
ENST00000484819, 		ENST00000344175, 
ENST00000391831, ENST00000391832, 
ENST00000391833, ENST00000391834, 
ENST00000391835, ENST00000482622, 
Fusion gene scores* DoF score8 X 8 X 5=3201 X 1 X 1=1
# samples 91
** MAII scorelog2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: UBAP2L [Title/Abstract] AND AKT1S1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointUBAP2L(154209588)-AKT1S1(50373118), # 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
TgeneAKT1S1

GO:0006469

negative regulation of protein kinase activity

17386266

TgeneAKT1S1

GO:0032007

negative regulation of TOR signaling

17386266

TgeneAKT1S1

GO:0045792

negative regulation of cell size

17386266


check buttonFusion gene breakpoints across UBAP2L (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 AKT1S1 (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/ABM559400UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-


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Fusion Gene ORF analysis for UBAP2L-AKT1S1

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-3UTRENST00000271877ENST00000344175UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000271877ENST00000391831UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000271877ENST00000391832UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000271877ENST00000391833UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000271877ENST00000391834UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000271877ENST00000391835UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000343815ENST00000344175UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000343815ENST00000391831UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000343815ENST00000391832UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000343815ENST00000391833UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000343815ENST00000391834UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000343815ENST00000391835UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000361546ENST00000344175UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000361546ENST00000391831UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000361546ENST00000391832UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000361546ENST00000391833UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000361546ENST00000391834UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000361546ENST00000391835UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000428931ENST00000344175UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000428931ENST00000391831UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000428931ENST00000391832UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000428931ENST00000391833UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000428931ENST00000391834UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-3UTRENST00000428931ENST00000391835UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-intronENST00000271877ENST00000482622UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-intronENST00000343815ENST00000482622UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-intronENST00000361546ENST00000482622UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
5CDS-intronENST00000428931ENST00000482622UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
intron-3UTRENST00000484819ENST00000344175UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
intron-3UTRENST00000484819ENST00000391831UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
intron-3UTRENST00000484819ENST00000391832UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
intron-3UTRENST00000484819ENST00000391833UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
intron-3UTRENST00000484819ENST00000391834UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
intron-3UTRENST00000484819ENST00000391835UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-
intron-intronENST00000484819ENST00000482622UBAP2Lchr1

154209588

+AKT1S1chr19

50373118

-

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 UBAP2L-AKT1S1


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 UBAP2L-AKT1S1


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/:154209588/:50373118)
- 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
.AKT1S1

Q96B36

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: Subunit of mTORC1, which regulates cell growth and survival in response to nutrient and hormonal signals. mTORC1 is activated in response to growth factors or amino acids. Growth factor-stimulated mTORC1 activation involves a AKT1-mediated phosphorylation of TSC1-TSC2, which leads to the activation of the RHEB GTPase that potently activates the protein kinase activity of mTORC1. Amino acid-signaling to mTORC1 requires its relocalization to the lysosomes mediated by the Ragulator complex and the Rag GTPases. Activated mTORC1 up-regulates protein synthesis by phosphorylating key regulators of mRNA translation and ribosome synthesis. mTORC1 phosphorylates EIF4EBP1 and releases it from inhibiting the elongation initiation factor 4E (eiF4E). mTORC1 phosphorylates and activates S6K1 at 'Thr-389', which then promotes protein synthesis by phosphorylating PDCD4 and targeting it for degradation. Within mTORC1, AKT1S1 negatively regulates mTOR activity in a manner that is dependent on its phosphorylation state and binding to 14-3-3 proteins. Inhibits RHEB-GTP-dependent mTORC1 activation. Substrate for AKT1 phosphorylation, but can also be activated by AKT1-independent mechanisms. May also play a role in nerve growth factor-mediated neuroprotection. {ECO:0000269|PubMed:16174443, ECO:0000269|PubMed:17277771, ECO:0000269|PubMed:17386266}.

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 UBAP2L-AKT1S1


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 UBAP2L-AKT1S1


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 UBAP2L-AKT1S1


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 UBAP2L-AKT1S1


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