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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:BIRC5-SPDYA (FusionGDB2 ID:HG332TG245711)

Fusion Gene Summary for BIRC5-SPDYA

check button Fusion gene summary
Fusion gene informationFusion gene name: BIRC5-SPDYA
Fusion gene ID: hg332tg245711
HgeneTgene
Gene symbol

BIRC5

SPDYA

Gene ID

332

245711

Gene namebaculoviral IAP repeat containing 5speedy/RINGO cell cycle regulator family member A
SynonymsAPI4|EPR-1RINGO3|RINGOA|SPDY1|SPY1
Cytomap('BIRC5')('SPDYA')

17q25.3

2p23.2

Type of geneprotein-codingprotein-coding
Descriptionbaculoviral IAP repeat-containing protein 5apoptosis inhibitor 4apoptosis inhibitor survivinsurvivin variant 3 alphaspeedy protein ARINGO Aepididymis secretory sperm binding proteinhSpy/Ringo Arapid inducer of G2/M progression in oocytes Aspeedy homolog Aspeedy-1
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000301633, ENST00000350051, 
ENST00000374948, ENST00000590449, 
ENST00000592734, ENST00000589892, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 6 X 3=108
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BIRC5 [Title/Abstract] AND SPDYA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBIRC5(76210826)-SPDYA(29050056), # 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
HgeneBIRC5

GO:0006468

protein phosphorylation

21252625

HgeneBIRC5

GO:0043066

negative regulation of apoptotic process

20627126|21364656

TgeneSPDYA

GO:0000082

G1/S transition of mitotic cell cycle

11980914

TgeneSPDYA

GO:0006974

cellular response to DNA damage stimulus

12839962

TgeneSPDYA

GO:0008284

positive regulation of cell proliferation

11980914

TgeneSPDYA

GO:0045860

positive regulation of protein kinase activity

28666995



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/ADB443041BIRC5chr17

76210826

+SPDYAchr2

29050056

+


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Fusion Gene ORF analysis for BIRC5-SPDYA

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-intronENST00000301633ENST00000334056BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000301633ENST00000379579BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000301633ENST00000462832BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000350051ENST00000334056BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000350051ENST00000379579BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000350051ENST00000462832BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000374948ENST00000334056BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000374948ENST00000379579BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000374948ENST00000462832BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000590449ENST00000334056BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000590449ENST00000379579BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000590449ENST00000462832BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000592734ENST00000334056BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000592734ENST00000379579BIRC5chr17

76210826

+SPDYAchr2

29050056

+
5CDS-intronENST00000592734ENST00000462832BIRC5chr17

76210826

+SPDYAchr2

29050056

+
intron-intronENST00000589892ENST00000334056BIRC5chr17

76210826

+SPDYAchr2

29050056

+
intron-intronENST00000589892ENST00000379579BIRC5chr17

76210826

+SPDYAchr2

29050056

+
intron-intronENST00000589892ENST00000462832BIRC5chr17

76210826

+SPDYAchr2

29050056

+

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 BIRC5-SPDYA


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 BIRC5-SPDYA


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/:76210826/:29050056)
- 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 BIRC5-SPDYA


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 BIRC5-SPDYA


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 BIRC5-SPDYA


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 BIRC5-SPDYA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBIRC5C0919267ovarian neoplasm4CTD_human
HgeneBIRC5C1140680Malignant neoplasm of ovary4CTD_human
HgeneBIRC5C0006142Malignant neoplasm of breast2CTD_human
HgeneBIRC5C0007102Malignant tumor of colon2CTD_human
HgeneBIRC5C0009375Colonic Neoplasms2CTD_human
HgeneBIRC5C0024121Lung Neoplasms2CTD_human
HgeneBIRC5C0242379Malignant neoplasm of lung2CTD_human
HgeneBIRC5C0678222Breast Carcinoma2CTD_human
HgeneBIRC5C1257931Mammary Neoplasms, Human2CTD_human
HgeneBIRC5C1458155Mammary Neoplasms2CTD_human
HgeneBIRC5C2239176Liver carcinoma2CTD_human
HgeneBIRC5C4704874Mammary Carcinoma, Human2CTD_human
HgeneBIRC5C0001418Adenocarcinoma1CTD_human
HgeneBIRC5C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneBIRC5C0007134Renal Cell Carcinoma1CTD_human
HgeneBIRC5C0007137Squamous cell carcinoma1CTD_human
HgeneBIRC5C0007873Uterine Cervical Neoplasm1CTD_human
HgeneBIRC5C0009402Colorectal Carcinoma1CTD_human
HgeneBIRC5C0009404Colorectal Neoplasms1CTD_human
HgeneBIRC5C0014170Endometrial Neoplasms1CTD_human
HgeneBIRC5C0023462Acute Megakaryocytic Leukemias1CTD_human
HgeneBIRC5C0023473Myeloid Leukemia, Chronic1CTD_human
HgeneBIRC5C0023487Acute Promyelocytic Leukemia1CTD_human
HgeneBIRC5C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
HgeneBIRC5C0024623Malignant neoplasm of stomach1CTD_human
HgeneBIRC5C0033578Prostatic Neoplasms1CTD_human
HgeneBIRC5C0038356Stomach Neoplasms1CTD_human
HgeneBIRC5C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneBIRC5C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneBIRC5C0205643Carcinoma, Cribriform1CTD_human
HgeneBIRC5C0205644Carcinoma, Granular Cell1CTD_human
HgeneBIRC5C0205645Adenocarcinoma, Tubular1CTD_human
HgeneBIRC5C0262584Carcinoma, Small Cell1CTD_human
HgeneBIRC5C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneBIRC5C0376358Malignant neoplasm of prostate1CTD_human
HgeneBIRC5C0476089Endometrial Carcinoma1CTD_human
HgeneBIRC5C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneBIRC5C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneBIRC5C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneBIRC5C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneBIRC5C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneBIRC5C4048328cervical cancer1CTD_human