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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:ASAP2-HSPB6 (FusionGDB2 ID:HG8853TG126393)

Fusion Gene Summary for ASAP2-HSPB6

check button Fusion gene summary
Fusion gene informationFusion gene name: ASAP2-HSPB6
Fusion gene ID: hg8853tg126393
HgeneTgene
Gene symbol

ASAP2

HSPB6

Gene ID

8853

126393

Gene nameArfGAP with SH3 domain, ankyrin repeat and PH domain 2heat shock protein family B (small) member 6
SynonymsAMAP2|CENTB3|DDEF2|PAG3|PAP|Pap-alpha|SHAG1HEL55|Hsp20|PPP1R91
Cytomap('ASAP2')('HSPB6')

2p25.1|2p24

19q13.12

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 2PYK2 C terminus-associated proteincentaurin, beta 3development and differentiation-enhancing factor 2paxillin-associated protein with ARF GAP activity 3pyk2 C-terminus-associated pheat shock protein beta-6epididymis luminal protein 55epididymis secretory sperm binding proteinheat shock 20 kDa-like protein p20heat shock protein family B (small) member B6heat shock protein, alpha-crystallin-related, B6protein phosphatase 1, reg
Modification date2020032720200313
UniProtAcc.

O14558

Ensembl transtripts involved in fusion geneENST00000491413, ENST00000281419, 
ENST00000315273, 
Fusion gene scores* DoF score10 X 15 X 8=12002 X 2 X 2=8
# samples 162
** MAII scorelog2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ASAP2 [Title/Abstract] AND HSPB6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASAP2(9533651)-HSPB6(36247930), # 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
TgeneHSPB6

GO:0045766

positive regulation of angiogenesis

22427880

TgeneHSPB6

GO:0061077

chaperone-mediated protein folding

14717697



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
ChimerDB4STADTCGA-BR-A453-01AASAP2chr2

9533651

+HSPB6chr19

36247930

-


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Fusion Gene ORF analysis for ASAP2-HSPB6

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-5UTRENST00000491413ENST00000004982ASAP2chr2

9533651

+HSPB6chr19

36247930

-
3UTR-5UTRENST00000491413ENST00000592984ASAP2chr2

9533651

+HSPB6chr19

36247930

-
3UTR-intronENST00000491413ENST00000587965ASAP2chr2

9533651

+HSPB6chr19

36247930

-
5CDS-5UTRENST00000281419ENST00000004982ASAP2chr2

9533651

+HSPB6chr19

36247930

-
5CDS-5UTRENST00000281419ENST00000592984ASAP2chr2

9533651

+HSPB6chr19

36247930

-
5CDS-5UTRENST00000315273ENST00000004982ASAP2chr2

9533651

+HSPB6chr19

36247930

-
5CDS-5UTRENST00000315273ENST00000592984ASAP2chr2

9533651

+HSPB6chr19

36247930

-
5CDS-intronENST00000281419ENST00000587965ASAP2chr2

9533651

+HSPB6chr19

36247930

-
5CDS-intronENST00000315273ENST00000587965ASAP2chr2

9533651

+HSPB6chr19

36247930

-

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 ASAP2-HSPB6


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)


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Fusion Protein Features for ASAP2-HSPB6


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/:9533651/:36247930)
- 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
.HSPB6

O14558

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: Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state. Seems to have versatile functions in various biological processes. Plays a role in regulating muscle function such as smooth muscle vasorelaxation and cardiac myocyte contractility. May regulate myocardial angiogenesis implicating KDR. Overexpression mediates cardioprotection and angiogenesis after induced damage. Stabilizes monomeric YWHAZ thereby supporting YWHAZ chaperone-like activity. {ECO:0000269|PubMed:14717697, ECO:0000269|PubMed:19845507, ECO:0000269|PubMed:20843828, ECO:0000269|PubMed:22427880, ECO:0000305, ECO:0000305|PubMed:22794279}.

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 ASAP2-HSPB6


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 ASAP2-HSPB6


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 ASAP2-HSPB6


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 ASAP2-HSPB6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0013221Drug toxicity1CTD_human
TgeneC0018799Heart Diseases1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human