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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:FGB-ALDH2 (FusionGDB2 ID:30054)

Fusion Gene Summary for FGB-ALDH2

check button Fusion gene summary
Fusion gene informationFusion gene name: FGB-ALDH2
Fusion gene ID: 30054
HgeneTgene
Gene symbol

FGB

ALDH2

Gene ID

2244

217

Gene namefibrinogen beta chainaldehyde dehydrogenase 2 family member
SynonymsHEL-S-78pALDH-E2|ALDHI|ALDM
Cytomap

4q31.3

12q24.12

Type of geneprotein-codingprotein-coding
Descriptionfibrinogen beta chainbeta-fibrinogenepididymis secretory sperm binding protein Li 78pfibrinogen, B beta polypeptidealdehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)epididymis secretory sperm binding proteinliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2
Modification date2020031320200313
UniProtAcc.

P05091

Ensembl transtripts involved in fusion geneENST00000302068, ENST00000509493, 
ENST00000502545, 
ENST00000416293, 
ENST00000261733, 
Fusion gene scores* DoF score10 X 8 X 4=3206 X 9 X 7=378
# samples 118
** MAII scorelog2(11/320*10)=-1.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/378*10)=-2.24031432933371
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGB [Title/Abstract] AND ALDH2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGB(155487717)-ALDH2(112227639), # samples:1
Anticipated loss of major functional domain due to fusion event.FGB-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
FGB-ALDH2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
FGB-ALDH2 seems lost the major protein functional domain in Tgene 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
HgeneFGB

GO:0007160

cell-matrix adhesion

10903502

HgeneFGB

GO:0031639

plasminogen activation

16846481

HgeneFGB

GO:0034116

positive regulation of heterotypic cell-cell adhesion

8100742

HgeneFGB

GO:0034622

cellular protein-containing complex assembly

8910396

HgeneFGB

GO:0042730

fibrinolysis

16846481

HgeneFGB

GO:0043152

induction of bacterial agglutination

24367264

HgeneFGB

GO:0045907

positive regulation of vasoconstriction

15739255

HgeneFGB

GO:0045921

positive regulation of exocytosis

19193866

HgeneFGB

GO:0050714

positive regulation of protein secretion

19193866

HgeneFGB

GO:0051258

protein polymerization

12706644

HgeneFGB

GO:0051592

response to calcium ion

6777381

HgeneFGB

GO:0070374

positive regulation of ERK1 and ERK2 cascade

10903502|19193866

HgeneFGB

GO:0070527

platelet aggregation

6281794

HgeneFGB

GO:0072378

blood coagulation, fibrin clot formation

16846481

HgeneFGB

GO:0090277

positive regulation of peptide hormone secretion

19193866

HgeneFGB

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

10903502

HgeneFGB

GO:2000352

negative regulation of endothelial cell apoptotic process

10903502


check buttonFusion gene breakpoints across FGB (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 ALDH2 (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
ChimerDB4Non-CancerTCGA-DD-A1EL-11AFGBchr4

155487717

+ALDH2chr12

112227639

+


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Fusion Gene ORF analysis for FGB-ALDH2

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
Frame-shiftENST00000302068ENST00000416293FGBchr4

155487717

+ALDH2chr12

112227639

+
Frame-shiftENST00000302068ENST00000261733FGBchr4

155487717

+ALDH2chr12

112227639

+
intron-3CDSENST00000509493ENST00000416293FGBchr4

155487717

+ALDH2chr12

112227639

+
intron-3CDSENST00000509493ENST00000261733FGBchr4

155487717

+ALDH2chr12

112227639

+
3UTR-3CDSENST00000502545ENST00000416293FGBchr4

155487717

+ALDH2chr12

112227639

+
3UTR-3CDSENST00000502545ENST00000261733FGBchr4

155487717

+ALDH2chr12

112227639

+

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 FGB-ALDH2


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 FGB-ALDH2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.ALDH2

P05091

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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 FGB-ALDH2


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 FGB-ALDH2


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 FGB-ALDH2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneALDH2P05091DB00536GuanidineInhibitorSmall moleculeApproved
TgeneALDH2P05091DB00536GuanidineInhibitorSmall moleculeApproved
TgeneALDH2P05091DB00822DisulfiramInhibitorSmall moleculeApproved
TgeneALDH2P05091DB00822DisulfiramInhibitorSmall moleculeApproved
TgeneALDH2P05091DB00157NADHSmall moleculeApproved|Nutraceutical
TgeneALDH2P05091DB00157NADHSmall moleculeApproved|Nutraceutical

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Related Diseases for FGB-ALDH2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGBC2584774Congenital hypofibrinogenemia7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGBC0272350Dysfibrinogenemia, Congenital4CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneFGBC0001787Osteoporosis, Age-Related1CTD_human
HgeneFGBC0029456Osteoporosis1CTD_human
HgeneFGBC0029459Osteoporosis, Senile1CTD_human
HgeneFGBC0030567Parkinson Disease1CTD_human
HgeneFGBC0751406Post-Traumatic Osteoporosis1CTD_human
TgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
TgeneALDH2C0085762Alcohol abuse7CTD_human;PSYGENET
TgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
TgeneALDH2C0393756Hangover from alcohol4PSYGENET
TgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
TgeneALDH2C0001956Alcohol Use Disorder2CTD_human
TgeneALDH2C0004096Asthma2CTD_human
TgeneALDH2C0005586Bipolar Disorder2PSYGENET
TgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
TgeneALDH2C0009402Colorectal Carcinoma1CTD_human
TgeneALDH2C0009404Colorectal Neoplasms1CTD_human
TgeneALDH2C0014859Esophageal Neoplasms1CTD_human
TgeneALDH2C0016382Flushing1CTD_human
TgeneALDH2C0016689Freckles1CTD_human
TgeneALDH2C0021364Male infertility1CTD_human
TgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneALDH2C0025209Melanosis1CTD_human
TgeneALDH2C0025218Chloasma1CTD_human
TgeneALDH2C0028796Dermatitis, Occupational1CTD_human
TgeneALDH2C0032927Precancerous Conditions1CTD_human
TgeneALDH2C0042373Vascular Diseases1CTD_human
TgeneALDH2C0086457Industrial Dermatosis1CTD_human
TgeneALDH2C0236970Alcohol-Induced Disorders1CTD_human
TgeneALDH2C0242973Ventricular Dysfunction1CTD_human
TgeneALDH2C0282313Condition, Preneoplastic1CTD_human
TgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
TgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
TgeneALDH2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
TgeneALDH2C0546837Malignant neoplasm of esophagus1CTD_human
TgeneALDH2C0848676Subfertility, Male1CTD_human
TgeneALDH2C0917731Male sterility1CTD_human
TgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human
TgeneALDH2C3241937Nonalcoholic Steatohepatitis1CTD_human