Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ALDH2-AFF3 (FusionGDB2 ID:HG217TG3899)

Fusion Gene Summary for ALDH2-AFF3

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH2-AFF3
Fusion gene ID: hg217tg3899
HgeneTgene
Gene symbol

ALDH2

AFF3

Gene ID

217

3899

Gene namealdehyde dehydrogenase 2 family memberAF4/FMR2 family member 3
SynonymsALDH-E2|ALDHI|ALDMLAF4|MLLT2-like
Cytomap('ALDH2')('AFF3')

12q24.12

2q11.2

Type of geneprotein-codingprotein-coding
Descriptionaldehyde dehydrogenase, mitochondrialALDH class 2acetaldehyde dehydrogenase 2aldehyde dehydrogenase 2 family (mitochondrial)epididymis secretory sperm binding proteinliver mitochondrial ALDHnucleus-encoded mitochondrial aldehyde dehydrogenase 2AF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4
Modification date2020031320200313
UniProtAcc

P05091

P51826

Ensembl transtripts involved in fusion geneENST00000261733, ENST00000416293, 
Fusion gene scores* DoF score26 X 20 X 11=572014 X 19 X 6=1596
# samples 2116
** MAII scorelog2(21/5720*10)=-4.76755391399963
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1596*10)=-3.31831684133498
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH2 [Title/Abstract] AND AFF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALDH2(112247619)-AFF3(100355550), # 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


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/AAV686137ALDH2chr12

112247619

+AFF3chr2

100355550

-


Top

Fusion Gene ORF analysis for ALDH2-AFF3

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-intronENST00000261733ENST00000317233ALDH2chr12

112247619

+AFF3chr2

100355550

-
3UTR-intronENST00000261733ENST00000356421ALDH2chr12

112247619

+AFF3chr2

100355550

-
3UTR-intronENST00000261733ENST00000409236ALDH2chr12

112247619

+AFF3chr2

100355550

-
3UTR-intronENST00000261733ENST00000409579ALDH2chr12

112247619

+AFF3chr2

100355550

-
3UTR-intronENST00000261733ENST00000483600ALDH2chr12

112247619

+AFF3chr2

100355550

-
intron-intronENST00000416293ENST00000317233ALDH2chr12

112247619

+AFF3chr2

100355550

-
intron-intronENST00000416293ENST00000356421ALDH2chr12

112247619

+AFF3chr2

100355550

-
intron-intronENST00000416293ENST00000409236ALDH2chr12

112247619

+AFF3chr2

100355550

-
intron-intronENST00000416293ENST00000409579ALDH2chr12

112247619

+AFF3chr2

100355550

-
intron-intronENST00000416293ENST00000483600ALDH2chr12

112247619

+AFF3chr2

100355550

-

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

Top

Fusion Genomic Features for ALDH2-AFF3


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)


Top

Fusion Protein Features for ALDH2-AFF3


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/:112247619/:100355550)
- 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
ALDH2

P05091

AFF3

P51826

FUNCTION: Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA.

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


Top

Fusion Gene Sequence for ALDH2-AFF3


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.

Top

Fusion Gene PPI Analysis for ALDH2-AFF3


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


Top

Related Drugs for ALDH2-AFF3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneALDH2P05091DB00536GuanidineInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00536GuanidineInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00822DisulfiramInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00822DisulfiramInhibitorSmall moleculeApproved
HgeneALDH2P05091DB00157NADHSmall moleculeApproved|Nutraceutical
HgeneALDH2P05091DB00157NADHSmall moleculeApproved|Nutraceutical

Top

Related Diseases for ALDH2-AFF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH2C0001973Alcoholic Intoxication, Chronic7CTD_human;PSYGENET
HgeneALDH2C0085762Alcohol abuse7CTD_human;PSYGENET
HgeneALDH2C0001969Alcoholic Intoxication5PSYGENET
HgeneALDH2C0393756Hangover from alcohol4PSYGENET
HgeneALDH2C0236664Alcohol-Related Disorders3PSYGENET
HgeneALDH2C0001956Alcohol Use Disorder2CTD_human
HgeneALDH2C0004096Asthma2CTD_human
HgeneALDH2C0005586Bipolar Disorder2PSYGENET
HgeneALDH2C0279626Squamous cell carcinoma of esophagus2CTD_human
HgeneALDH2C0009402Colorectal Carcinoma1CTD_human
HgeneALDH2C0009404Colorectal Neoplasms1CTD_human
HgeneALDH2C0014859Esophageal Neoplasms1CTD_human
HgeneALDH2C0016382Flushing1CTD_human
HgeneALDH2C0016689Freckles1CTD_human
HgeneALDH2C0021364Male infertility1CTD_human
HgeneALDH2C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneALDH2C0025209Melanosis1CTD_human
HgeneALDH2C0025218Chloasma1CTD_human
HgeneALDH2C0028796Dermatitis, Occupational1CTD_human
HgeneALDH2C0032927Precancerous Conditions1CTD_human
HgeneALDH2C0042373Vascular Diseases1CTD_human
HgeneALDH2C0086457Industrial Dermatosis1CTD_human
HgeneALDH2C0236970Alcohol-Induced Disorders1CTD_human
HgeneALDH2C0242973Ventricular Dysfunction1CTD_human
HgeneALDH2C0282313Condition, Preneoplastic1CTD_human
HgeneALDH2C0342257Complications of Diabetes Mellitus1CTD_human
HgeneALDH2C0349464Wernicke-Korsakoff Syndrome1PSYGENET
HgeneALDH2C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneALDH2C0520459Necrotizing Enterocolitis1CTD_human
HgeneALDH2C0546837Malignant neoplasm of esophagus1CTD_human
HgeneALDH2C0848676Subfertility, Male1CTD_human
HgeneALDH2C0917731Male sterility1CTD_human
HgeneALDH2C2674838ALCOHOL SENSITIVITY, ACUTE1CTD_human
HgeneALDH2C3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC0003873Rheumatoid Arthritis2CTD_human
TgeneC0013146Drug abuse1CTD_human
TgeneC0013170Drug habituation1CTD_human
TgeneC0013222Drug Use Disorders1CTD_human
TgeneC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneC0036572Seizures1GENOMICS_ENGLAND
TgeneC0038580Substance Dependence1CTD_human
TgeneC0038586Substance Use Disorders1CTD_human
TgeneC0236969Substance-Related Disorders1CTD_human
TgeneC0740858Substance abuse problem1CTD_human
TgeneC1510472Drug Dependence1CTD_human
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4316881Prescription Drug Abuse1CTD_human