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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:ALDH1A2-IGFBP5 (FusionGDB2 ID:HG8854TG3488)

Fusion Gene Summary for ALDH1A2-IGFBP5

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH1A2-IGFBP5
Fusion gene ID: hg8854tg3488
HgeneTgene
Gene symbol

ALDH1A2

IGFBP5

Gene ID

8854

3488

Gene namealdehyde dehydrogenase 1 family member A2insulin like growth factor binding protein 5
SynonymsRALDH(II)|RALDH2|RALDH2-TIBP5
Cytomap('ALDH1A2')('IGFBP5')

15q21.3

2q35

Type of geneprotein-codingprotein-coding
Descriptionretinal dehydrogenase 2RALDH 2retinaldehyde-specific dehydrogenase type 2insulin-like growth factor-binding protein 5IBP-5IGF-binding protein 5IGFBP-5
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000249750, ENST00000347587, 
ENST00000537372, ENST00000558231, 
ENST00000559517, ENST00000559579, 
Fusion gene scores* DoF score2 X 3 X 3=1815 X 20 X 2=600
# samples 320
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(20/600*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH1A2 [Title/Abstract] AND IGFBP5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALDH1A2(58245813)-IGFBP5(217541019), # 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
HgeneALDH1A2

GO:0002138

retinoic acid biosynthetic process

29240402

HgeneALDH1A2

GO:0008285

negative regulation of cell proliferation

16166285

HgeneALDH1A2

GO:0034097

response to cytokine

18495959

HgeneALDH1A2

GO:0051289

protein homotetramerization

29240402

TgeneIGFBP5

GO:0014912

negative regulation of smooth muscle cell migration

10766744

TgeneIGFBP5

GO:0017148

negative regulation of translation

15700281

TgeneIGFBP5

GO:0030336

negative regulation of cell migration

15700281

TgeneIGFBP5

GO:0043569

negative regulation of insulin-like growth factor receptor signaling pathway

10766744

TgeneIGFBP5

GO:0048662

negative regulation of smooth muscle cell proliferation

10766744

TgeneIGFBP5

GO:0071320

cellular response to cAMP

7559606

TgeneIGFBP5

GO:0071407

cellular response to organic cyclic compound

7559606



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


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Fusion Gene ORF analysis for ALDH1A2-IGFBP5

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

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 ALDH1A2-IGFBP5


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 ALDH1A2-IGFBP5


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/:58245813/:217541019)
- 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 ALDH1A2-IGFBP5


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 ALDH1A2-IGFBP5


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 ALDH1A2-IGFBP5


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 ALDH1A2-IGFBP5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH1A2C0025312Meningomyelocele1CTD_human
HgeneALDH1A2C0029408Degenerative polyarthritis1CTD_human
HgeneALDH1A2C0033578Prostatic Neoplasms1CTD_human
HgeneALDH1A2C0036341Schizophrenia1PSYGENET
HgeneALDH1A2C0086664Myelocele1CTD_human
HgeneALDH1A2C0086743Osteoarthrosis Deformans1CTD_human
HgeneALDH1A2C0242422Parkinsonian Disorders1CTD_human
HgeneALDH1A2C0242423Ramsay Hunt Paralysis Syndrome1CTD_human
HgeneALDH1A2C0376358Malignant neoplasm of prostate1CTD_human
HgeneALDH1A2C0751316Acquired Meningomyelocele1CTD_human
HgeneALDH1A2C0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
HgeneALDH1A2C0752098Autosomal Dominant Parkinsonism1CTD_human
HgeneALDH1A2C0752100Autosomal Recessive Parkinsonism1CTD_human
HgeneALDH1A2C0752101Parkinsonism, Experimental1CTD_human
HgeneALDH1A2C0752104Familial Juvenile Parkinsonism1CTD_human
HgeneALDH1A2C0752105Parkinsonism, Juvenile1CTD_human
HgeneALDH1A2C1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human