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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:ALDH2-TFF3 (FusionGDB2 ID:3999)

Fusion Gene Summary for ALDH2-TFF3

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH2-TFF3
Fusion gene ID: 3999
HgeneTgene
Gene symbol

ALDH2

TFF3

Gene ID

217

7033

Gene namealdehyde dehydrogenase 2 family membertrefoil factor 3
SynonymsALDH-E2|ALDHI|ALDMITF|P1B|TFI
Cytomap

12q24.12

21q22.3

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 2trefoil factor 3polypeptide P1.Btrefoil factor 3 (intestinal)
Modification date2020031320200313
UniProtAcc

P05091

.
Ensembl transtripts involved in fusion geneENST00000416293, ENST00000261733, 
ENST00000291525, ENST00000518498, 
ENST00000489676, 
Fusion gene scores* DoF score26 X 20 X 11=57204 X 4 X 3=48
# samples 214
** MAII scorelog2(21/5720*10)=-4.76755391399963
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH2 [Title/Abstract] AND TFF3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointALDH2(112221074)-TFF3(43735501), # 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 buttonFusion gene breakpoints across ALDH2 (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 TFF3 (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
ChimerDB4COADTCGA-AA-A01T-01AALDH2chr12

112221074

+TFF3chr21

43735501

-


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Fusion Gene ORF analysis for ALDH2-TFF3

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
intron-3CDSENST00000416293ENST00000291525ALDH2chr12

112221074

+TFF3chr21

43735501

-
intron-3CDSENST00000416293ENST00000518498ALDH2chr12

112221074

+TFF3chr21

43735501

-
intron-intronENST00000416293ENST00000489676ALDH2chr12

112221074

+TFF3chr21

43735501

-
In-frameENST00000261733ENST00000291525ALDH2chr12

112221074

+TFF3chr21

43735501

-
In-frameENST00000261733ENST00000518498ALDH2chr12

112221074

+TFF3chr21

43735501

-
5CDS-intronENST00000261733ENST00000489676ALDH2chr12

112221074

+TFF3chr21

43735501

-

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)
ENST00000261733ALDH2chr12112221074+ENST00000291525TFF3chr2143735501-11573088001156119
ENST00000261733ALDH2chr12112221074+ENST00000518498TFF3chr2143735501-11573088001156119

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
ENST00000261733ENST00000291525ALDH2chr12112221074+TFF3chr2143735501-0.243628030.7563719
ENST00000261733ENST00000518498ALDH2chr12112221074+TFF3chr2143735501-0.243628030.7563719

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Fusion Genomic Features for ALDH2-TFF3


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 ALDH2-TFF3


check button Go to

FGviewer for the breakpoints of chr12:112221074-chr21:43735501

.
- 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
TgeneTFF3chr12:112221074chr21:43735501ENST000005184980344_87095.0DomainP-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneALDH2chr12:112221074chr21:43735501ENST00000261733+113262_2670518.0Nucleotide bindingNAD
HgeneALDH2chr12:112221074chr21:43735501ENST00000416293+112262_2670471.0Nucleotide bindingNAD


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Fusion Gene Sequence for ALDH2-TFF3


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.
>In-frame_ENST00000261733_ENST00000291525_TCGA-AA-A01T-01A_ALDH2_chr12_112221074_+_TFF3_chr21_43735501_length(transcript)=1157nt_BP=308nt
TCAGTGGCCCTGAGACCCTAGCTCTGCTCTCGGTCCGCTCGCTGTCCGCTAGCCCGCTGCGATGTTGCGCGCTGCCGCCCGCTTCGGGCC
CCGCCTGGGCCGCCGCCTCTTGTCAGCCGCCGCCACCCAGGCCGTGCCTGCCCCCAACCAGCAGCCCGAGGTCTTCTGCAACCAGATTTT
CATAAACAATGAATGGCACGATGCCGTCAGCAGGAAAACATTCCCCACCGTCAATCCGTCCACTGGAGAGGTCATCTGTCAGGTAGCTGA
AGGGGACAAGGATCGAGCGGGACCGGACCTACCTGGCGAATGCACCTTCTGAGGCACCTCCAGCTGCCCCCGGCCGGGGGATGCGAGGCT
CGGAGCACCCTTGCCCGGCTGTGATTGCTGCCAGGCACTGTTCATCTCAGCTTTTCTGTCCCTTTGCTCCCGGCAAGCGCTTCTGCTGAA
AGTTCATATCTGGAGCCTGATGTCTTAACGAATAAAGGTCCCATGCTCCACCCGAGGACAGTTCTTCGTGCCTGAGACTTTCTGAGGTTG
TGCTTTATTTCTGCTGCGTCGTGGGAGAGGGCGGGAGGGTGTCAGGGGAGAGTCTGCCCAGGCCTCAAGGGCAGGAAAAGACTCCCTAAG
GAGCTGCAGTGCATGCAAGGATATTTTGAATCCAGACTGGCACCCACGTCACAGGAAAGCCTAGGAACACTGTAAGTGCCGCTTCCTCGG
GAAAGCAGAAAAAATACATTTCAGGTAGAAGTTTTCAAAAATCACAAGTCTTTCTTGGTGAAGACAGCAAGCCAATAAAACTGTCTTCCA
AAGTGGTCCTTTATTTCACAACCACTCTCGCTACTGTTCAATACTTGTACTATTCCTGGGTTTTGTTTCTTTGTACAGTAAACATTATGA
ACAAACAGGCACTGCAAACCAGTGTGCCGTGCCAGCCAAGGACAGGGTGGACTGCGGCTACCCCCATGTCACCCCCAAGGAGTGCAACAA
CCGGGGCTGCTGCTTTGACTCCAGGATCCCTGGAGTGCCTTGGTGTTTCAAGCCCCTGCAGGAAGCAGCGGAGCCCACGGTGGTCATGGC

>In-frame_ENST00000261733_ENST00000291525_TCGA-AA-A01T-01A_ALDH2_chr12_112221074_+_TFF3_chr21_43735501_length(amino acids)=119AA_start in transcript=800_stop in transcript=1156
MSSKVVLYFTTTLATVQYLYYSWVLFLCTVNIMNKQALQTSVPCQPRTGWTAATPMSPPRSATTGAAALTPGSLECLGVSSPCRKQRSPR

--------------------------------------------------------------
>In-frame_ENST00000261733_ENST00000518498_TCGA-AA-A01T-01A_ALDH2_chr12_112221074_+_TFF3_chr21_43735501_length(transcript)=1157nt_BP=308nt
TCAGTGGCCCTGAGACCCTAGCTCTGCTCTCGGTCCGCTCGCTGTCCGCTAGCCCGCTGCGATGTTGCGCGCTGCCGCCCGCTTCGGGCC
CCGCCTGGGCCGCCGCCTCTTGTCAGCCGCCGCCACCCAGGCCGTGCCTGCCCCCAACCAGCAGCCCGAGGTCTTCTGCAACCAGATTTT
CATAAACAATGAATGGCACGATGCCGTCAGCAGGAAAACATTCCCCACCGTCAATCCGTCCACTGGAGAGGTCATCTGTCAGGTAGCTGA
AGGGGACAAGGATCGAGCGGGACCGGACCTACCTGGCGAATGCACCTTCTGAGGCACCTCCAGCTGCCCCCGGCCGGGGGATGCGAGGCT
CGGAGCACCCTTGCCCGGCTGTGATTGCTGCCAGGCACTGTTCATCTCAGCTTTTCTGTCCCTTTGCTCCCGGCAAGCGCTTCTGCTGAA
AGTTCATATCTGGAGCCTGATGTCTTAACGAATAAAGGTCCCATGCTCCACCCGAGGACAGTTCTTCGTGCCTGAGACTTTCTGAGGTTG
TGCTTTATTTCTGCTGCGTCGTGGGAGAGGGCGGGAGGGTGTCAGGGGAGAGTCTGCCCAGGCCTCAAGGGCAGGAAAAGACTCCCTAAG
GAGCTGCAGTGCATGCAAGGATATTTTGAATCCAGACTGGCACCCACGTCACAGGAAAGCCTAGGAACACTGTAAGTGCCGCTTCCTCGG
GAAAGCAGAAAAAATACATTTCAGGTAGAAGTTTTCAAAAATCACAAGTCTTTCTTGGTGAAGACAGCAAGCCAATAAAACTGTCTTCCA
AAGTGGTCCTTTATTTCACAACCACTCTCGCTACTGTTCAATACTTGTACTATTCCTGGGTTTTGTTTCTTTGTACAGTAAACATTATGA
ACAAACAGGCACTGCAAACCAGTGTGCCGTGCCAGCCAAGGACAGGGTGGACTGCGGCTACCCCCATGTCACCCCCAAGGAGTGCAACAA
CCGGGGCTGCTGCTTTGACTCCAGGATCCCTGGAGTGCCTTGGTGTTTCAAGCCCCTGCAGGAAGCAGCGGAGCCCACGGTGGTCATGGC

>In-frame_ENST00000261733_ENST00000518498_TCGA-AA-A01T-01A_ALDH2_chr12_112221074_+_TFF3_chr21_43735501_length(amino acids)=119AA_start in transcript=800_stop in transcript=1156
MSSKVVLYFTTTLATVQYLYYSWVLFLCTVNIMNKQALQTSVPCQPRTGWTAATPMSPPRSATTGAAALTPGSLECLGVSSPCRKQRSPR

--------------------------------------------------------------

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Fusion Gene PPI Analysis for ALDH2-TFF3


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 ALDH2-TFF3


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

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Related Diseases for ALDH2-TFF3


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
TgeneTFF3C0019188Hepatitis, Animal1CTD_human
TgeneTFF3C0022658Kidney Diseases1CTD_human
TgeneTFF3C0022660Kidney Failure, Acute1CTD_human
TgeneTFF3C0333355Inflammatory disease of mucous membrane1CTD_human
TgeneTFF3C1565662Acute Kidney Insufficiency1CTD_human
TgeneTFF3C2609414Acute kidney injury1CTD_human