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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:C3orf52-AIFM1 (FusionGDB2 ID:HG79669TG9131)

Fusion Gene Summary for C3orf52-AIFM1

check button Fusion gene summary
Fusion gene informationFusion gene name: C3orf52-AIFM1
Fusion gene ID: hg79669tg9131
HgeneTgene
Gene symbol

C3orf52

AIFM1

Gene ID

79669

9131

Gene namechromosome 3 open reading frame 52apoptosis inducing factor mitochondria associated 1
SynonymsTTMPAIF|AUNX1|CMT2D|CMTX4|COWCK|COXPD6|DFNX5|NADMR|NAMSD|PDCD8|SEMDHL
Cytomap('C3orf52')('AIFM1')

3q13.2

Xq26.1

Type of geneprotein-codingprotein-coding
DescriptionTPA-induced transmembrane proteinTPA induced trans-membrane proteinnovel endoplasmic reticulum transmembrane proteinapoptosis-inducing factor 1, mitochondrialapoptosis-inducing factor, mitochondrion-associated, 1auditory neuropathy, X-linked recessive 1programmed cell death 8 (apoptosis-inducing factor)striatal apoptosis-inducing factortesticular secretory protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000264848, ENST00000430855, 
ENST00000431717, ENST00000467942, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 3=27
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C3orf52 [Title/Abstract] AND AIFM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC3orf52(111812336)-AIFM1(129265774), # samples:1
Anticipated loss of major functional domain due to fusion event.C3orf52-AIFM1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
TgeneAIFM1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17094969

TgeneAIFM1

GO:0055114

oxidation-reduction process

27178839



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
ChimerDB4OVTCGA-13-0887C3orf52chr3

111812336

+AIFM1chrX

129265774

-


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Fusion Gene ORF analysis for C3orf52-AIFM1

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
5CDS-3UTRENST00000264848ENST00000287295C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000264848ENST00000319908C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000264848ENST00000346424C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000264848ENST00000535724C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000430855ENST00000287295C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000430855ENST00000319908C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000430855ENST00000346424C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000430855ENST00000535724C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000431717ENST00000287295C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000431717ENST00000319908C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000431717ENST00000346424C3orf52chr3

111812336

+AIFM1chrX

129265774

-
5CDS-3UTRENST00000431717ENST00000535724C3orf52chr3

111812336

+AIFM1chrX

129265774

-
Frame-shiftENST00000264848ENST00000440263C3orf52chr3

111812336

+AIFM1chrX

129265774

-
Frame-shiftENST00000264848ENST00000460436C3orf52chr3

111812336

+AIFM1chrX

129265774

-
Frame-shiftENST00000430855ENST00000440263C3orf52chr3

111812336

+AIFM1chrX

129265774

-
Frame-shiftENST00000430855ENST00000460436C3orf52chr3

111812336

+AIFM1chrX

129265774

-
Frame-shiftENST00000431717ENST00000440263C3orf52chr3

111812336

+AIFM1chrX

129265774

-
Frame-shiftENST00000431717ENST00000460436C3orf52chr3

111812336

+AIFM1chrX

129265774

-
intron-3CDSENST00000467942ENST00000440263C3orf52chr3

111812336

+AIFM1chrX

129265774

-
intron-3CDSENST00000467942ENST00000460436C3orf52chr3

111812336

+AIFM1chrX

129265774

-
intron-3UTRENST00000467942ENST00000287295C3orf52chr3

111812336

+AIFM1chrX

129265774

-
intron-3UTRENST00000467942ENST00000319908C3orf52chr3

111812336

+AIFM1chrX

129265774

-
intron-3UTRENST00000467942ENST00000346424C3orf52chr3

111812336

+AIFM1chrX

129265774

-
intron-3UTRENST00000467942ENST00000535724C3orf52chr3

111812336

+AIFM1chrX

129265774

-

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 C3orf52-AIFM1


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 C3orf52-AIFM1


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/:111812336/:129265774)
- 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 C3orf52-AIFM1


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 C3orf52-AIFM1


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 C3orf52-AIFM1


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 C3orf52-AIFM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC3151753COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 68CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1845095DEAFNESS, X-LINKED 5 (disorder)6CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4304400X-linked hereditary sensory and autonomic neuropathy with deafness6CLINGEN
TgeneC0795910COWCHOCK SYNDROME5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020179Huntington Disease1CTD_human
TgeneC0027540Necrosis1CTD_human
TgeneC0035305Retinal Detachment1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0339546Retinal Pigment Epithelial Detachment1CTD_human
TgeneC0342302Brittle diabetes1CTD_human
TgeneC0393574Huntington Disease, Late Onset1CTD_human
TgeneC0751207Akinetic-Rigid Variant of Huntington Disease1CTD_human
TgeneC0751208Juvenile Huntington Disease1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1970840Leukoencephalopathy With Metaphyseal Chondrodysplasia1ORPHANET
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human