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:EIF3C-MAZ (FusionGDB2 ID:HG8663TG4150)

Fusion Gene Summary for EIF3C-MAZ

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF3C-MAZ
Fusion gene ID: hg8663tg4150
HgeneTgene
Gene symbol

EIF3C

MAZ

Gene ID

8663

4150

Gene nameeukaryotic translation initiation factor 3 subunit CMYC associated zinc finger protein
SynonymsEIF3CL|EIF3S8|eIF3-p110PUR1|Pur-1|SAF-1|SAF-2|SAF-3|ZF87|ZNF801|Zif87
Cytomap('EIF3C')('MAZ')

16p11.2

16p11.2

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 3 subunit Ccell migration-inducing protein 17eIF3 p110eukaryotic translation initiation factor 3 subunit 8eukaryotic translation initiation factor 3, subunit 8 (110kD)eukaryotic translation initiation factor 3myc-associated zinc finger proteinMAZIpurine-binding transcription factorserum amyloid A activating factor 1serum amyloid A activating factor 2transcription factor Zif87zinc finger protein 801zinc-finger protein, 87 kilodaltons
Modification date2020032220200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000566501, ENST00000331666, 
ENST00000395587, ENST00000564243, 
ENST00000565099, ENST00000566866, 
Fusion gene scores* DoF score12 X 9 X 10=10805 X 5 X 2=50
# samples 125
** MAII scorelog2(12/1080*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/50*10)=0
Context

PubMed: EIF3C [Title/Abstract] AND MAZ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointEIF3C(28700149)-MAZ(29819551), # 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
HgeneEIF3C

GO:0006413

translational initiation

17581632

TgeneMAZ

GO:0006367

transcription initiation from RNA polymerase II promoter

1502157

TgeneMAZ

GO:0006369

termination of RNA polymerase II transcription

1502157

TgeneMAZ

GO:0008284

positive regulation of cell proliferation

25487955

TgeneMAZ

GO:0010628

positive regulation of gene expression

25487955

TgeneMAZ

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

25487955

TgeneMAZ

GO:0030335

positive regulation of cell migration

25487955

TgeneMAZ

GO:0045893

positive regulation of transcription, DNA-templated

25487955

TgeneMAZ

GO:0051897

positive regulation of protein kinase B signaling

25487955

TgeneMAZ

GO:2001234

negative regulation of apoptotic signaling pathway

25487955



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
ChimerDB4BLCATCGA-CF-A3MH-01AEIF3Cchr16

28700149

+MAZchr16

29819551

+


Top

Fusion Gene ORF analysis for EIF3C-MAZ

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-3CDSENST00000566501ENST00000322945EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-3CDSENST00000566501ENST00000545521EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-5UTRENST00000566501ENST00000568282EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-5UTRENST00000566501ENST00000568544EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-5UTRENST00000566501ENST00000569978EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-intronENST00000566501ENST00000219782EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-intronENST00000566501ENST00000562337EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-intronENST00000566501ENST00000563402EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-intronENST00000566501ENST00000566906EIF3Cchr16

28700149

+MAZchr16

29819551

+
5UTR-intronENST00000566501ENST00000568516EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000331666ENST00000322945EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000331666ENST00000545521EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000395587ENST00000322945EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000395587ENST00000545521EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000564243ENST00000322945EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000564243ENST00000545521EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000565099ENST00000322945EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000565099ENST00000545521EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000566866ENST00000322945EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-3CDSENST00000566866ENST00000545521EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000331666ENST00000568282EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000331666ENST00000568544EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000331666ENST00000569978EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000395587ENST00000568282EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000395587ENST00000568544EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000395587ENST00000569978EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000564243ENST00000568282EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000564243ENST00000568544EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000564243ENST00000569978EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000565099ENST00000568282EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000565099ENST00000568544EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000565099ENST00000569978EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000566866ENST00000568282EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000566866ENST00000568544EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-5UTRENST00000566866ENST00000569978EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000331666ENST00000219782EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000331666ENST00000562337EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000331666ENST00000563402EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000331666ENST00000566906EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000331666ENST00000568516EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000395587ENST00000219782EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000395587ENST00000562337EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000395587ENST00000563402EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000395587ENST00000566906EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000395587ENST00000568516EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000564243ENST00000219782EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000564243ENST00000562337EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000564243ENST00000563402EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000564243ENST00000566906EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000564243ENST00000568516EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000565099ENST00000219782EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000565099ENST00000562337EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000565099ENST00000563402EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000565099ENST00000566906EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000565099ENST00000568516EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000566866ENST00000219782EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000566866ENST00000562337EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000566866ENST00000563402EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000566866ENST00000566906EIF3Cchr16

28700149

+MAZchr16

29819551

+
intron-intronENST00000566866ENST00000568516EIF3Cchr16

28700149

+MAZchr16

29819551

+

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 EIF3C-MAZ


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)
EIF3Cchr1628700149+MAZchr1629819550+0.99999955.34E-07
EIF3Cchr1628700149+MAZchr1629819550+0.99999955.34E-07


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.
genomic feature of top 1%

Top

Fusion Protein Features for EIF3C-MAZ


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/:28700149/:29819551)
- 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 EIF3C-MAZ


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 EIF3C-MAZ


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 EIF3C-MAZ


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 EIF3C-MAZ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0019693HIV Infections1CTD_human
TgeneC4505456HIV Coinfection1CTD_human