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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:C3orf52-AIFM1 (FusionGDB2 ID:HG79669TG9131)

Fusion Gene Summary for C3orf52-AIFM1

Fusion gene summary

Fusion gene information	Fusion gene name: C3orf52-AIFM1
	Fusion gene ID: hg79669tg9131
		Hgene	Tgene
	Gene symbol	C3orf52	AIFM1
	Gene ID	79669	9131
	Gene name	chromosome 3 open reading frame 52	apoptosis inducing factor mitochondria associated 1
	Synonyms	TTMP	AIF\|AUNX1\|CMT2D\|CMTX4\|COWCK\|COXPD6\|DFNX5\|NADMR\|NAMSD\|PDCD8\|SEMDHL
	Cytomap	('C3orf52')('AIFM1') 3q13.2	Xq26.1
	Type of gene	protein-coding	protein-coding
	Description	TPA-induced transmembrane proteinTPA induced trans-membrane proteinnovel endoplasmic reticulum transmembrane protein	apoptosis-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 date	20200313	20200313
	UniProtAcc	.	.
	Ensembl transtripts involved in fusion gene	ENST00000264848, ENST00000430855, ENST00000431717, ENST00000467942,
Fusion gene scores	* DoF score	2 X 2 X 2=8	3 X 3 X 3=27
	# samples	2	3
	** MAII score	log2(2/8*10)=1.32192809488736	log2(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 breakpoint	C3orf52(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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	AIFM1	GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	17094969
Tgene	AIFM1	GO:0055114	oxidation-reduction process	27178839

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	OV	TCGA-13-0887	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-

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Fusion Gene ORF analysis for C3orf52-AIFM1

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-3UTR	ENST00000264848	ENST00000287295	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000264848	ENST00000319908	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000264848	ENST00000346424	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000264848	ENST00000535724	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000430855	ENST00000287295	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000430855	ENST00000319908	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000430855	ENST00000346424	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000430855	ENST00000535724	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000431717	ENST00000287295	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000431717	ENST00000319908	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000431717	ENST00000346424	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
5CDS-3UTR	ENST00000431717	ENST00000535724	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
Frame-shift	ENST00000264848	ENST00000440263	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
Frame-shift	ENST00000264848	ENST00000460436	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
Frame-shift	ENST00000430855	ENST00000440263	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
Frame-shift	ENST00000430855	ENST00000460436	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
Frame-shift	ENST00000431717	ENST00000440263	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
Frame-shift	ENST00000431717	ENST00000460436	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
intron-3CDS	ENST00000467942	ENST00000440263	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
intron-3CDS	ENST00000467942	ENST00000460436	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
intron-3UTR	ENST00000467942	ENST00000287295	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
intron-3UTR	ENST00000467942	ENST00000319908	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
intron-3UTR	ENST00000467942	ENST00000346424	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-
intron-3UTR	ENST00000467942	ENST00000535724	C3orf52	chr3	111812336	+	AIFM1	chrX	129265774	-

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for C3orf52-AIFM1

FusionAI 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.

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

1-p

p (fusion gene breakpoint)

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Fusion Protein Features for C3orf52-AIFM1

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for C3orf52-AIFM1

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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for C3orf52-AIFM1

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for C3orf52-AIFM1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene		C3151753	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6	8	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C1845095	DEAFNESS, X-LINKED 5 (disorder)	6	CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C4304400	X-linked hereditary sensory and autonomic neuropathy with deafness	6	CLINGEN
Tgene		C0795910	COWCHOCK SYNDROME	5	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
Tgene		C0002152	Alloxan Diabetes	1	CTD_human
Tgene		C0011853	Diabetes Mellitus, Experimental	1	CTD_human
Tgene		C0011854	Diabetes Mellitus, Insulin-Dependent	1	CTD_human
Tgene		C0019193	Hepatitis, Toxic	1	CTD_human
Tgene		C0020179	Huntington Disease	1	CTD_human
Tgene		C0027540	Necrosis	1	CTD_human
Tgene		C0035305	Retinal Detachment	1	CTD_human
Tgene		C0038433	Streptozotocin Diabetes	1	CTD_human
Tgene		C0205734	Diabetes, Autoimmune	1	CTD_human
Tgene		C0339546	Retinal Pigment Epithelial Detachment	1	CTD_human
Tgene		C0342302	Brittle diabetes	1	CTD_human
Tgene		C0393574	Huntington Disease, Late Onset	1	CTD_human
Tgene		C0751207	Akinetic-Rigid Variant of Huntington Disease	1	CTD_human
Tgene		C0751208	Juvenile Huntington Disease	1	CTD_human
Tgene		C0860207	Drug-Induced Liver Disease	1	CTD_human
Tgene		C1262760	Hepatitis, Drug-Induced	1	CTD_human
Tgene		C1970840	Leukoencephalopathy With Metaphyseal Chondrodysplasia	1	ORPHANET
Tgene		C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
Tgene		C3837958	Diabetes Mellitus, Ketosis-Prone	1	CTD_human
Tgene		C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
Tgene		C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
Tgene		C4554117	Diabetes Mellitus, Sudden-Onset	1	CTD_human

Fusion Gene Studies in Kim Lab

Fusion gene:C3orf52-AIFM1 (FusionGDB2 ID:HG79669TG9131)

Fusion Gene Summary for C3orf52-AIFM1

Fusion Gene ORF analysis for C3orf52-AIFM1

Fusion Genomic Features for C3orf52-AIFM1

Fusion Protein Features for C3orf52-AIFM1

Fusion Gene Sequence for C3orf52-AIFM1

Fusion Gene PPI Analysis for C3orf52-AIFM1

Related Drugs for C3orf52-AIFM1

Related Diseases for C3orf52-AIFM1

Fusion Gene Studies
in Kim Lab