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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:ERAL1-DIDO1 (FusionGDB2 ID:HG26284TG11083)

Fusion Gene Summary for ERAL1-DIDO1

check button Fusion gene summary
Fusion gene informationFusion gene name: ERAL1-DIDO1
Fusion gene ID: hg26284tg11083
HgeneTgene
Gene symbol

ERAL1

DIDO1

Gene ID

26284

11083

Gene nameEra like 12S mitochondrial rRNA chaperone 1death inducer-obliterator 1
SynonymsCEGA|ERA|ERA-W|ERAL1A|ERAL1B|H-ERA|HERA-A|HERA-B|PRLTS6BYE1|C20orf158|DATF-1|DATF1|DIDO2|DIDO3|DIO-1|DIO1|dJ885L7.8
Cytomap('ERAL1')('DIDO1')

17q11.2

20q13.33

Type of geneprotein-codingprotein-coding
DescriptionGTPase Era, mitochondrialERA-like protein 1Era G-protein-like 1GTP-binding protein era homologGTPase, human homolog of E. coli essential cell cycle protein Eraconserved ERA-like GTPaseera (E. coli G-protein homolog)-like 1death-inducer obliterator 1death-associated transcription factor 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000578001, ENST00000254928, 
Fusion gene scores* DoF score4 X 4 X 2=324 X 4 X 3=48
# samples 44
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: ERAL1 [Title/Abstract] AND DIDO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointERAL1(27182335)-DIDO1(61513766), # samples:2
Anticipated loss of major functional domain due to fusion event.ERAL1-DIDO1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ERAL1-DIDO1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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


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
ChimerDB4BRCATCGA-A1-A0SJ-01AERAL1chr17

27182335

-DIDO1chr20

61513766

-
ChimerDB4BRCATCGA-A1-A0SJ-01AERAL1chr17

27182335

+DIDO1chr20

61513766

-


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Fusion Gene ORF analysis for ERAL1-DIDO1

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-3CDSENST00000578001ENST00000266070ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-3CDSENST00000578001ENST00000395343ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-intronENST00000578001ENST00000266071ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-intronENST00000578001ENST00000354665ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-intronENST00000578001ENST00000370366ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-intronENST00000578001ENST00000370368ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-intronENST00000578001ENST00000370371ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-intronENST00000578001ENST00000395335ERAL1chr17

27182335

+DIDO1chr20

61513766

-
3UTR-intronENST00000578001ENST00000395340ERAL1chr17

27182335

+DIDO1chr20

61513766

-
5CDS-intronENST00000254928ENST00000266071ERAL1chr17

27182335

+DIDO1chr20

61513766

-
5CDS-intronENST00000254928ENST00000354665ERAL1chr17

27182335

+DIDO1chr20

61513766

-
5CDS-intronENST00000254928ENST00000370366ERAL1chr17

27182335

+DIDO1chr20

61513766

-
5CDS-intronENST00000254928ENST00000370368ERAL1chr17

27182335

+DIDO1chr20

61513766

-
5CDS-intronENST00000254928ENST00000370371ERAL1chr17

27182335

+DIDO1chr20

61513766

-
5CDS-intronENST00000254928ENST00000395335ERAL1chr17

27182335

+DIDO1chr20

61513766

-
5CDS-intronENST00000254928ENST00000395340ERAL1chr17

27182335

+DIDO1chr20

61513766

-
Frame-shiftENST00000254928ENST00000266070ERAL1chr17

27182335

+DIDO1chr20

61513766

-
Frame-shiftENST00000254928ENST00000395343ERAL1chr17

27182335

+DIDO1chr20

61513766

-

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 ERAL1-DIDO1


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)


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Fusion Protein Features for ERAL1-DIDO1


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/:27182335/:61513766)
- 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


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Fusion Gene Sequence for ERAL1-DIDO1


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 ERAL1-DIDO1


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 ERAL1-DIDO1


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

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Related Diseases for ERAL1-DIDO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERAL1C0685838Gonadal dysgenesis XX type deafness1ORPHANET
HgeneERAL1C4479656PERRAULT SYNDROME 61GENOMICS_ENGLAND;UNIPROT
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human