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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:SLC3A1-PLEKHA1 (FusionGDB2 ID:83220)

Fusion Gene Summary for SLC3A1-PLEKHA1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC3A1-PLEKHA1
Fusion gene ID: 83220
HgeneTgene
Gene symbol

SLC3A1

PLEKHA1

Gene ID

6519

59338

Gene namesolute carrier family 3 member 1pleckstrin homology domain containing A1
SynonymsATR1|CSNU1|D2H|NBAT|RBATTAPP1
Cytomap

2p21

10q26.13

Type of geneprotein-codingprotein-coding
Descriptionneutral and basic amino acid transport protein rBATB(0,+)-type amino acid transport proteinSLC3A1 variant BSLC3A1 variant CSLC3A1 variant DSLC3A1 variant ESLC3A1 variant FSLC3A1 variant Gamino acid transporter 1solute carrier family 3 (amino acidpleckstrin homology domain-containing family A member 1pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1tandem PH domain-containing protein 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000260649, ENST00000409229, 
ENST00000409294, ENST00000409380, 
ENST00000409387, ENST00000409740, 
ENST00000409741, ENST00000410056, 
ENST00000368988, ENST00000368989, 
ENST00000368990, ENST00000433307, 
ENST00000494222, ENST00000538022, 
Fusion gene scores* DoF score5 X 6 X 5=1505 X 5 X 3=75
# samples 65
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC3A1 [Title/Abstract] AND PLEKHA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC3A1(44548450)-PLEKHA1(124191626), # 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
TgenePLEKHA1

GO:0014065

phosphatidylinositol 3-kinase signaling

12101241

TgenePLEKHA1

GO:0031529

ruffle organization

15485858

TgenePLEKHA1

GO:0045184

establishment of protein localization

14516276

TgenePLEKHA1

GO:0050853

B cell receptor signaling pathway

12101241

TgenePLEKHA1

GO:0070301

cellular response to hydrogen peroxide

14516276


check buttonFusion gene breakpoints across SLC3A1 (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 PLEKHA1 (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-CD-A48C-01ASLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+


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Fusion Gene ORF analysis for SLC3A1-PLEKHA1

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-3UTRENST00000260649ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
3UTR-3UTRENST00000260649ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
3UTR-3UTRENST00000260649ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
3UTR-3UTRENST00000260649ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
3UTR-intronENST00000260649ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
3UTR-intronENST00000260649ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409229ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409229ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409229ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409229ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409294ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409294ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409294ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409294ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409380ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409380ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409380ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409380ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409387ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409387ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409387ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409387ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409740ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409740ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409740ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409740ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409741ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409741ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409741ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000409741ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000410056ENST00000368988SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000410056ENST00000368989SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000410056ENST00000368990SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-3UTRENST00000410056ENST00000433307SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409229ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409229ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409294ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409294ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409380ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409380ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409387ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409387ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409740ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409740ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409741ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000409741ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000410056ENST00000494222SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+
intron-intronENST00000410056ENST00000538022SLC3A1chr2

44548450

+PLEKHA1chr10

124191626

+

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 SLC3A1-PLEKHA1


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 SLC3A1-PLEKHA1


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/:44548450/:124191626)
- 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
..
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: 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}.

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 SLC3A1-PLEKHA1


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 SLC3A1-PLEKHA1


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 SLC3A1-PLEKHA1


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 SLC3A1-PLEKHA1


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