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:FNDC3A-MBNL1 (FusionGDB2 ID:30899)

Fusion Gene Summary for FNDC3A-MBNL1

check button Fusion gene summary
Fusion gene informationFusion gene name: FNDC3A-MBNL1
Fusion gene ID: 30899
HgeneTgene
Gene symbol

FNDC3A

MBNL1

Gene ID

22862

4154

Gene namefibronectin type III domain containing 3Amuscleblind like splicing regulator 1
SynonymsFNDC3|HUGO|bA203I16.1|bA203I16.5EXP|MBNL
Cytomap

13q14.2

3q25.1-q25.2

Type of geneprotein-codingprotein-coding
Descriptionfibronectin type-III domain-containing protein 3Ahuman gene expressed in odontoblastsmuscleblind-like protein 1muscleblind-liketriplet-expansion RNA-binding protein
Modification date2020031320200327
UniProtAcc

Q9Y2H6

Q9NR56

Ensembl transtripts involved in fusion geneENST00000398316, ENST00000492622, 
ENST00000541916, 		ENST00000282486, 
ENST00000282488, ENST00000324196, 
ENST00000324210, ENST00000355460, 
ENST00000357472, ENST00000461436, 
ENST00000463374, ENST00000485509, 
ENST00000485910, ENST00000492948, 
ENST00000493459, ENST00000498502, 
ENST00000545754, 
Fusion gene scores* DoF score15 X 12 X 7=126028 X 14 X 6=2352
# samples 1628
** MAII scorelog2(16/1260*10)=-2.97727992349992
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/2352*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FNDC3A [Title/Abstract] AND MBNL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFNDC3A(49743286)-MBNL1(151996254), # 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
TgeneMBNL1

GO:0008380

RNA splicing

18335541

TgeneMBNL1

GO:0043484

regulation of RNA splicing

15257297|16946708


check buttonFusion gene breakpoints across FNDC3A (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 MBNL1 (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/AAW021998FNDC3Achr13

49743286

-MBNL1chr3

151996254

-


Top

Fusion Gene ORF analysis for FNDC3A-MBNL1

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-intronENST00000398316ENST00000282486FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000282488FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000324196FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000324210FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000355460FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000357472FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000461436FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000463374FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000485509FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000485910FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000492948FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000493459FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000498502FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000398316ENST00000545754FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000282486FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000282488FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000324196FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000324210FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000355460FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000357472FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000461436FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000463374FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000485509FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000485910FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000492948FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000493459FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000498502FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000492622ENST00000545754FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000282486FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000282488FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000324196FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000324210FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000355460FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000357472FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000461436FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000463374FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000485509FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000485910FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000492948FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000493459FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000498502FNDC3Achr13

49743286

-MBNL1chr3

151996254

-
intron-intronENST00000541916ENST00000545754FNDC3Achr13

49743286

-MBNL1chr3

151996254

-

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 FNDC3A-MBNL1


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 FNDC3A-MBNL1


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/:49743286/:151996254)
- 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
FNDC3A

Q9Y2H6

MBNL1

Q9NR56

FUNCTION: Mediates spermatid-Sertoli adhesion during spermatogenesis. {ECO:0000250}.FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y-3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:18335541, ECO:0000269|PubMed:19470458}.

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 FNDC3A-MBNL1


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 FNDC3A-MBNL1


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 FNDC3A-MBNL1


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 FNDC3A-MBNL1


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