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:ALDH1A1-ALDH1A1 (FusionGDB2 ID:HG216TG216)

Fusion Gene Summary for ALDH1A1-ALDH1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH1A1-ALDH1A1
Fusion gene ID: hg216tg216
HgeneTgene
Gene symbol

ALDH1A1

ALDH1A1

Gene ID

216

216

Gene namealdehyde dehydrogenase 1 family member A1aldehyde dehydrogenase 1 family member A1
SynonymsALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1ALDC|ALDH-E1|ALDH1|ALDH11|HEL-9|HEL-S-53e|HEL12|PUMB1|RALDH1
Cytomap('ALDH1A1')('ALDH1A1')

9q21.13

9q21.13

Type of geneprotein-codingprotein-coding
Descriptionretinal dehydrogenase 1ALDH class 1ALHDIIRALDH 1acetaldehyde dehydrogenase 1aldehyde dehydrogenase 1, solublealdehyde dehydrogenase, liver cytosolicepididymis luminal protein 12epididymis luminal protein 9epididymis secretory sperm binding proteiretinal dehydrogenase 1ALDH class 1ALHDIIRALDH 1acetaldehyde dehydrogenase 1aldehyde dehydrogenase 1, solublealdehyde dehydrogenase, liver cytosolicepididymis luminal protein 12epididymis luminal protein 9epididymis secretory sperm binding protei
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000297785, ENST00000376939, 
ENST00000482210, 		ENST00000297785, 
ENST00000376939, ENST00000482210, 
Fusion gene scores* DoF score8 X 11 X 3=2648 X 11 X 3=264
# samples 1112
** MAII scorelog2(11/264*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/264*10)=-1.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH1A1 [Title/Abstract] AND ALDH1A1 [Title/Abstract] AND fusion [Title/Abstract]

New insights into the half-of-the-sites reactivity of human aldehyde dehydrogenase 1A1 (pmid:  23444097)
Most frequent breakpointALDH1A1(75515698)-ALDH1A1(75516164), # samples:2
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
HgeneALDH1A1

GO:0055114

oxidation-reduction process

25450233

TgeneALDH1A1

GO:0055114

oxidation-reduction process

25450233



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


Top

Fusion Gene ORF analysis for ALDH1A1-ALDH1A1

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

Top

Fusion Genomic Features for ALDH1A1-ALDH1A1


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 ALDH1A1-ALDH1A1


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/:75515698/:75516164)
- 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


Top

Fusion Gene Sequence for ALDH1A1-ALDH1A1


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 ALDH1A1-ALDH1A1


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 ALDH1A1-ALDH1A1


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

Top

Related Diseases for ALDH1A1-ALDH1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneALDH1A1C0001973Alcoholic Intoxication, Chronic5PSYGENET
HgeneALDH1A1C0001969Alcoholic Intoxication1PSYGENET
HgeneALDH1A1C0007134Renal Cell Carcinoma1CTD_human
HgeneALDH1A1C0007621Neoplastic Cell Transformation1CTD_human
HgeneALDH1A1C0022336Creutzfeldt-Jakob disease1CTD_human
HgeneALDH1A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneALDH1A1C0025202melanoma1CTD_human
HgeneALDH1A1C0036341Schizophrenia1PSYGENET
HgeneALDH1A1C0085762Alcohol abuse1PSYGENET
HgeneALDH1A1C0242422Parkinsonian Disorders1CTD_human
HgeneALDH1A1C0242423Ramsay Hunt Paralysis Syndrome1CTD_human
HgeneALDH1A1C0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
HgeneALDH1A1C0376329New Variant Creutzfeldt-Jakob Disease1CTD_human
HgeneALDH1A1C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneALDH1A1C0751254Creutzfeldt-Jakob Disease, Familial1CTD_human
HgeneALDH1A1C0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
HgeneALDH1A1C0752098Autosomal Dominant Parkinsonism1CTD_human
HgeneALDH1A1C0752100Autosomal Recessive Parkinsonism1CTD_human
HgeneALDH1A1C0752101Parkinsonism, Experimental1CTD_human
HgeneALDH1A1C0752104Familial Juvenile Parkinsonism1CTD_human
HgeneALDH1A1C0752105Parkinsonism, Juvenile1CTD_human
HgeneALDH1A1C1266042Chromophobe Renal Cell Carcinoma1CTD_human
HgeneALDH1A1C1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
HgeneALDH1A1C1266044Collecting Duct Carcinoma of the Kidney1CTD_human
HgeneALDH1A1C1306837Papillary Renal Cell Carcinoma1CTD_human
HgeneALDH1A1C1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
HgeneALDH1A1C3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneC0001969Alcoholic Intoxication1PSYGENET
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0022336Creutzfeldt-Jakob disease1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0025202melanoma1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0085762Alcohol abuse1PSYGENET
TgeneC0242422Parkinsonian Disorders1CTD_human
TgeneC0242423Ramsay Hunt Paralysis Syndrome1CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0376329New Variant Creutzfeldt-Jakob Disease1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0751254Creutzfeldt-Jakob Disease, Familial1CTD_human
TgeneC0752097Autosomal Dominant Juvenile Parkinson Disease1CTD_human
TgeneC0752098Autosomal Dominant Parkinsonism1CTD_human
TgeneC0752100Autosomal Recessive Parkinsonism1CTD_human
TgeneC0752101Parkinsonism, Experimental1CTD_human
TgeneC0752104Familial Juvenile Parkinsonism1CTD_human
TgeneC0752105Parkinsonism, Juvenile1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human
TgeneC1868675PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human