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:ELMSAN1-ALDH6A1 (FusionGDB2 ID:HG91748TG4329)

Fusion Gene Summary for ELMSAN1-ALDH6A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ELMSAN1-ALDH6A1
Fusion gene ID: hg91748tg4329
HgeneTgene
Gene symbol

ELMSAN1

ALDH6A1

Gene ID

91748

4329

Gene namemitotic deacetylase associated SANT domain proteinaldehyde dehydrogenase 6 family member A1
SynonymsC14orf117|C14orf43|ELMSAN1|LSR68|c14_5541MMSADHA|MMSDH
Cytomap('ELMSAN1')('ALDH6A1')

14q24.3

14q24.3

Type of geneprotein-codingprotein-coding
DescriptionELM2 and SANT domain-containing protein 1ELM2 and Myb/SANT domain containing 1ELM2 and Myb/SANT-like domain containing 1methylmalonate-semialdehyde dehydrogenase [acylating], mitochondrialmalonate-semialdehyde dehydrogenasemalonate-semialdehyde dehydrogenase (acetylating)mitochondrial acylating methylmalonate-semialdehyde dehydrogenasetesticular tissue protein Li 122
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000394071, ENST00000286523, 
ENST00000486739, 
Fusion gene scores* DoF score14 X 9 X 9=11346 X 4 X 5=120
# samples 157
** MAII scorelog2(15/1134*10)=-2.91838623444635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ELMSAN1 [Title/Abstract] AND ALDH6A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointELMSAN1(74253805)-ALDH6A1(74541720), # 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


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
ChimerDB4ACCTCGA-OR-A5J7-01AELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-


Top

Fusion Gene ORF analysis for ELMSAN1-ALDH6A1

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
5UTR-3CDSENST00000394071ENST00000350259ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
5UTR-3CDSENST00000394071ENST00000553458ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
5UTR-5UTRENST00000394071ENST00000556852ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
5UTR-intronENST00000394071ENST00000555126ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-3CDSENST00000286523ENST00000350259ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-3CDSENST00000286523ENST00000553458ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-3CDSENST00000486739ENST00000350259ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-3CDSENST00000486739ENST00000553458ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-5UTRENST00000286523ENST00000556852ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-5UTRENST00000486739ENST00000556852ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-intronENST00000286523ENST00000555126ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-
intron-intronENST00000486739ENST00000555126ELMSAN1chr14

74253805

-ALDH6A1chr14

74541720

-

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 ELMSAN1-ALDH6A1


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 ELMSAN1-ALDH6A1


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/:74253805/:74541720)
- 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 ELMSAN1-ALDH6A1


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 ELMSAN1-ALDH6A1


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 ELMSAN1-ALDH6A1


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 ELMSAN1-ALDH6A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC3279840Methylmalonate Semialdehyde Dehydrogenase Deficiency5CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0002514Amino Acid Metabolism, Inborn Errors1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0750905Amino Acid Metabolism, Inherited Disorders1CTD_human