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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:BAIAP2L2-PLA2G6 (FusionGDB2 ID:HG80115TG8398)

Fusion Gene Summary for BAIAP2L2-PLA2G6

check button Fusion gene summary
Fusion gene informationFusion gene name: BAIAP2L2-PLA2G6
Fusion gene ID: hg80115tg8398
HgeneTgene
Gene symbol

BAIAP2L2

PLA2G6

Gene ID

80115

8398

Gene nameBAR/IMD domain containing adaptor protein 2 like 2phospholipase A2 group VI
Synonyms-CaI-PLA2|GVI|INAD1|IPLA2-VIA|NBIA2|NBIA2A|NBIA2B|PARK14|PLA2|PNPLA9|iPLA2|iPLA2beta
Cytomap('BAIAP2L2')('PLA2G6')

22q13.1

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionbrain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2BAI1 associated protein 2 like 2BAI1-associated protein 2-like protein 2pinkbarplanar intestinal- and kidney-specific BAR domain protein85/88 kDa calcium-independent phospholipase A285 kDa calcium-independent phospholipase A2GVI PLA2iPLA2-betaintracellular membrane-associated calcium-independent phospholipase A2 betaneurodegeneration with brain iron accumulation 2patatin-like phosph
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000332536, ENST00000381669, 
ENST00000332536, ENST00000381669, 
Fusion gene scores* DoF score2 X 3 X 3=1810 X 9 X 8=720
# samples 412
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(12/720*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BAIAP2L2 [Title/Abstract] AND PLA2G6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBAIAP2L2(38506482)-PLA2G6(38516916), # samples:2
BAIAP2L2(38506482)-PLA2G6(38509661), # samples:2
Anticipated loss of major functional domain due to fusion event.BAIAP2L2-PLA2G6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BAIAP2L2-PLA2G6 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BAIAP2L2-PLA2G6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BAIAP2L2-PLA2G6 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PLA2G6-BAIAP2L2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PLA2G6-BAIAP2L2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BAIAP2L2-PLA2G6 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
BAIAP2L2-PLA2G6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PLA2G6-BAIAP2L2 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PLA2G6-BAIAP2L2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* 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
TgenePLA2G6

GO:0019731

antibacterial humoral response

18714013


check buttonFusion gene breakpoints across BAIAP2L2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across PLA2G6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4HNSCTCGA-CN-4740-01ABAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
ChimerDB4HNSCTCGA-CN-4740BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
ChimerDB4PAADTCGA-F2-A7TX-01ABAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
ChimerDB4PAADTCGA-F2-A7TXBAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-


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Fusion Gene ORF analysis for BAIAP2L2-PLA2G6

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-intronENST00000332536ENST00000417303BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000332536ENST00000417303BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000332536ENST00000435484BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000332536ENST00000435484BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000332536ENST00000436218BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000332536ENST00000436218BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000332536ENST00000447598BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000332536ENST00000447598BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000332536ENST00000490473BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000332536ENST00000490473BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000381669ENST00000417303BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000381669ENST00000417303BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000381669ENST00000435484BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000381669ENST00000435484BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000381669ENST00000436218BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000381669ENST00000436218BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000381669ENST00000447598BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000381669ENST00000447598BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
5CDS-intronENST00000381669ENST00000490473BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
5CDS-intronENST00000381669ENST00000490473BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
Frame-shiftENST00000332536ENST00000332509BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
Frame-shiftENST00000332536ENST00000335539BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
Frame-shiftENST00000332536ENST00000402064BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
Frame-shiftENST00000381669ENST00000332509BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
Frame-shiftENST00000381669ENST00000335539BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
Frame-shiftENST00000381669ENST00000402064BAIAP2L2chr22

38506482

-PLA2G6chr22

38516916

-
In-frameENST00000332536ENST00000332509BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
In-frameENST00000332536ENST00000335539BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
In-frameENST00000332536ENST00000402064BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
In-frameENST00000381669ENST00000332509BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
In-frameENST00000381669ENST00000335539BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-
In-frameENST00000381669ENST00000402064BAIAP2L2chr22

38506482

-PLA2G6chr22

38509661

-

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 BAIAP2L2-PLA2G6


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.
genomic feature

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Fusion Protein Features for BAIAP2L2-PLA2G6


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/chr22:38506482/chr22:38516916)
- 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
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216652_654624753.0MotifDGA/G
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216652_654624753.0MotifDGA/G
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317677_686678807.0RegionCalmodulin-binding (1-9-14 motif)
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317748_759678807.0RegionCalmodulin-binding (IQ motif)
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216677_686624753.0RegionCalmodulin-binding (1-9-14 motif)
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216748_759624753.0RegionCalmodulin-binding (IQ motif)
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216677_686624753.0RegionCalmodulin-binding (1-9-14 motif)
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216748_759624753.0RegionCalmodulin-binding (IQ motif)

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBAIAP2L2chr22:38506482chr22:38509661ENST00000381669-1141_23917530.0DomainIMD
HgeneBAIAP2L2chr22:38506482chr22:38509661ENST00000381669-114324_38717530.0DomainSH3
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317481_665678807.0DomainPNPLA
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216481_665624753.0DomainPNPLA
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216481_665624753.0DomainPNPLA
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317485_490678807.0MotifGXGXXG
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317517_521678807.0MotifGXSXG
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317652_654678807.0MotifDGA/G
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216485_490624753.0MotifGXGXXG
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216517_521624753.0MotifGXSXG
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216485_490624753.0MotifGXGXXG
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216517_521624753.0MotifGXSXG
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317120_147678807.0RepeatANK 1
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317151_181678807.0RepeatANK 1
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317185_215678807.0RepeatANK 2
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317219_248678807.0RepeatANK 3
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317251_281678807.0RepeatANK 4
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317286_312678807.0RepeatANK 5
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317316_345678807.0RepeatANK 6
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317349_378678807.0RepeatANK 7
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317382_403678807.0RepeatANK 9
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216120_147624753.0RepeatANK 1
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216151_181624753.0RepeatANK 1
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216185_215624753.0RepeatANK 2
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216219_248624753.0RepeatANK 3
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216251_281624753.0RepeatANK 4
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216286_312624753.0RepeatANK 5
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216316_345624753.0RepeatANK 6
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216349_378624753.0RepeatANK 7
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216382_403624753.0RepeatANK 9
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216120_147624753.0RepeatANK 1
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216151_181624753.0RepeatANK 1
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216185_215624753.0RepeatANK 2
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216219_248624753.0RepeatANK 3
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216251_281624753.0RepeatANK 4
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216286_312624753.0RepeatANK 5
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216316_345624753.0RepeatANK 6
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216349_378624753.0RepeatANK 7
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216382_403624753.0RepeatANK 9
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317480_500678807.0TransmembraneHelical
TgenePLA2G6chr22:38506482chr22:38509661ENST000003325091317511_531678807.0TransmembraneHelical
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216480_500624753.0TransmembraneHelical
TgenePLA2G6chr22:38506482chr22:38509661ENST000003355391216511_531624753.0TransmembraneHelical
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216480_500624753.0TransmembraneHelical
TgenePLA2G6chr22:38506482chr22:38509661ENST000004020641216511_531624753.0TransmembraneHelical


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Fusion Gene Sequence for BAIAP2L2-PLA2G6


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 BAIAP2L2-PLA2G6


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 BAIAP2L2-PLA2G6


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 BAIAP2L2-PLA2G6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0270724Infantile Neuroaxonal Dystrophy7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1857747NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder)5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2751842PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0027960Nevus1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0349204Nonorganic psychosis1PSYGENET