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:CHCHD3-EEF1G (FusionGDB2 ID:16237)

Fusion Gene Summary for CHCHD3-EEF1G

check button Fusion gene summary
Fusion gene informationFusion gene name: CHCHD3-EEF1G
Fusion gene ID: 16237
HgeneTgene
Gene symbol

CHCHD3

EEF1G

Gene ID

54927

1937

Gene namecoiled-coil-helix-coiled-coil-helix domain containing 3eukaryotic translation elongation factor 1 gamma
SynonymsMICOS19|MINOS3|Mic19|PPP1R22EF1G|GIG35
Cytomap

7q32.3-q33

11q12.3

Type of geneprotein-codingprotein-coding
DescriptionMICOS complex subunit MIC19coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrialmitochondrial contact site and cristae organizing system subunit 19mitochondrial inner membrane organizing system 3protein phosphatase 1, regulatoelongation factor 1-gammaEF-1-gammaPRO1608eEF-1B gammapancreatic tumor-related proteintranslation elongation factor eEF-1 gamma chain
Modification date2020032720200313
UniProtAcc

Q9NX63

P26641

Ensembl transtripts involved in fusion geneENST00000262570, ENST00000448878, 
ENST00000476546, ENST00000542753, 
ENST00000329251, ENST00000378019, 
ENST00000532986, 
Fusion gene scores* DoF score23 X 25 X 10=57509 X 9 X 6=486
# samples 3117
** MAII scorelog2(31/5750*10)=-4.21322183544486
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(17/486*10)=-1.51542156746808
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CHCHD3 [Title/Abstract] AND EEF1G [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEEF1G(62338435)-CHCHD3(132720700), # samples:6
CHCHD3(132719989)-EEF1G(62327077), # samples:1
CHCHD3(132719993)-EEF1G(62340215), # samples:1
CHCHD3(132719957)-EEF1G(62340215), # samples:1
CHCHD3(132720067)-EEF1G(62340215), # samples:1
CHCHD3(132720024)-EEF1G(62340215), # samples:1
CHCHD3(132719978)-EEF1G(62340215), # samples:1
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
HgeneCHCHD3

GO:0000122

negative regulation of transcription by RNA polymerase II

22567091


check buttonFusion gene breakpoints across CHCHD3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across EEF1G (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChiTaRS5.0N/AAA641230CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
ChiTaRS5.0N/ABF338359CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
ChiTaRS5.0N/ABF340307CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
ChiTaRS5.0N/ABF341548CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
ChiTaRS5.0N/ABG033591CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
ChiTaRS5.0N/ABG574747CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-


Top

Fusion Gene ORF analysis for CHCHD3-EEF1G

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
intron-3CDSENST00000262570ENST00000329251CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000329251CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000329251CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000329251CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000329251CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000378019CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000378019CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000378019CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000378019CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000262570ENST00000378019CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000329251CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000329251CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000329251CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000329251CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000329251CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000378019CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000378019CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000378019CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000378019CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000448878ENST00000378019CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000329251CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000329251CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000329251CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000329251CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000329251CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000378019CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000378019CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000378019CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000378019CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000476546ENST00000378019CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000329251CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000329251CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000329251CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000329251CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000329251CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000378019CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000378019CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000378019CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000378019CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-3CDSENST00000542753ENST00000378019CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-5UTRENST00000262570ENST00000532986CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-5UTRENST00000262570ENST00000532986CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-5UTRENST00000262570ENST00000532986CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-5UTRENST00000262570ENST00000532986CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-5UTRENST00000262570ENST00000532986CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-5UTRENST00000448878ENST00000532986CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-5UTRENST00000448878ENST00000532986CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-5UTRENST00000448878ENST00000532986CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-5UTRENST00000448878ENST00000532986CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-5UTRENST00000448878ENST00000532986CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-5UTRENST00000476546ENST00000532986CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-5UTRENST00000476546ENST00000532986CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-5UTRENST00000476546ENST00000532986CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-5UTRENST00000476546ENST00000532986CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-5UTRENST00000476546ENST00000532986CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-5UTRENST00000542753ENST00000532986CHCHD3chr7

132719993

-EEF1Gchr11

62340215

-
intron-5UTRENST00000542753ENST00000532986CHCHD3chr7

132719957

-EEF1Gchr11

62340215

-
intron-5UTRENST00000542753ENST00000532986CHCHD3chr7

132720067

-EEF1Gchr11

62340215

-
intron-5UTRENST00000542753ENST00000532986CHCHD3chr7

132720024

-EEF1Gchr11

62340215

-
intron-5UTRENST00000542753ENST00000532986CHCHD3chr7

132719978

-EEF1Gchr11

62340215

-
intron-intronENST00000262570ENST00000329251CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000262570ENST00000378019CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000262570ENST00000532986CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000448878ENST00000329251CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000448878ENST00000378019CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000448878ENST00000532986CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000476546ENST00000329251CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000476546ENST00000378019CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000476546ENST00000532986CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000542753ENST00000329251CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000542753ENST00000378019CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+
intron-intronENST00000542753ENST00000532986CHCHD3chr7

132719989

+EEF1Gchr11

62327077

+

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 CHCHD3-EEF1G


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for CHCHD3-EEF1G


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/:62338435/:132720700)
- 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
CHCHD3

Q9NX63

EEF1G

P26641

FUNCTION: Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Has also been shown to function as a transcription factor which binds to the BAG1 promoter and represses BAG1 transcription. Plays an important role in the maintenance of the MICOS complex stability and the mitochondrial cristae morphology (PubMed:25781180). {ECO:0000269|PubMed:22567091, ECO:0000269|PubMed:25781180}.FUNCTION: Probably plays a role in anchoring the complex to other cellular components.

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 CHCHD3-EEF1G


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 CHCHD3-EEF1G


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 CHCHD3-EEF1G


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 CHCHD3-EEF1G


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource