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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:NBPF12-FUS (FusionGDB2 ID:57104)

Fusion Gene Summary for NBPF12-FUS

check button Fusion gene summary
Fusion gene informationFusion gene name: NBPF12-FUS
Fusion gene ID: 57104
HgeneTgene
Gene symbol

NBPF12

FUS

Gene ID

149013

2521

Gene nameNBPF member 12FUS RNA binding protein
SynonymsCOAS1|KIAA1245ALS6|ETM4|FUS1|HNRNPP2|POMP75|TLS
Cytomap

1q21.1

16p11.2

Type of geneprotein-codingprotein-coding
Descriptionneuroblastoma breakpoint family member 12chomosome one amplified sequence 1 cyclophilinchromosome 1 amplified sequence 1RNA-binding protein FUS75 kDa DNA-pairing proteinfus-like proteinfused in sarcomafusion gene in myxoid liposarcomaheterogeneous nuclear ribonucleoprotein P2oncogene FUSoncogene TLStranslocated in liposarcoma protein
Modification date2020031320200329
UniProtAcc

Q5TAG4

P35637

Ensembl transtripts involved in fusion geneENST00000446760, ENST00000442909, 
ENST00000309471, ENST00000439206, 
ENST00000446080, ENST00000447862, 
ENST00000438910, ENST00000414957, 
ENST00000438411, ENST00000537773, 
ENST00000254108, ENST00000380244, 
ENST00000568685, ENST00000474990, 
Fusion gene scores* DoF score3 X 3 X 3=2720 X 13 X 10=2600
# samples 322
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(22/2600*10)=-3.56293619439116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NBPF12 [Title/Abstract] AND FUS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNBPF12(146378873)-FUS(31199646), # 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
TgeneFUS

GO:0006355

regulation of transcription, DNA-templated

26124092

TgeneFUS

GO:0006357

regulation of transcription by RNA polymerase II

25453086

TgeneFUS

GO:0008380

RNA splicing

26124092

TgeneFUS

GO:0043484

regulation of RNA splicing

25453086|27731383

TgeneFUS

GO:0048255

mRNA stabilization

27378374

TgeneFUS

GO:0051260

protein homooligomerization

25453086

TgeneFUS

GO:1905168

positive regulation of double-strand break repair via homologous recombination

10567410


check buttonFusion gene breakpoints across NBPF12 (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 FUS (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
ChimerDB4Non-CancerTCGA-CG-5721-11ANBPF12chr1

146378873

+FUSchr16

31199646

+


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Fusion Gene ORF analysis for NBPF12-FUS

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-3CDSENST00000446760ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
5UTR-3CDSENST00000446760ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
5UTR-3CDSENST00000446760ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
5UTR-3UTRENST00000446760ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
5UTR-3CDSENST00000442909ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
5UTR-3CDSENST00000442909ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
5UTR-3CDSENST00000442909ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
5UTR-3UTRENST00000442909ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000309471ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000309471ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000309471ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000309471ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000439206ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000439206ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000439206ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000439206ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000446080ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000446080ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000446080ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000446080ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000447862ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000447862ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000447862ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000447862ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000438910ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000438910ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000438910ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000438910ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000414957ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000414957ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000414957ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000414957ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000438411ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000438411ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000438411ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000438411ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000537773ENST00000254108NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000537773ENST00000380244NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3CDSENST00000537773ENST00000568685NBPF12chr1

146378873

+FUSchr16

31199646

+
intron-3UTRENST00000537773ENST00000474990NBPF12chr1

146378873

+FUSchr16

31199646

+

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 NBPF12-FUS


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)
NBPF12chr1146378873+FUSchr1631199645+1.20E-070.9999999
NBPF12chr1146378873+FUSchr1631199645+1.20E-070.9999999

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.

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Fusion Protein Features for NBPF12-FUS


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NBPF12

Q5TAG4

FUS

P35637

FUNCTION: DNA/RNA-binding protein that plays a role in various cellular processes such as transcription regulation, RNA splicing, RNA transport, DNA repair and damage response (PubMed:27731383). Binds to nascent pre-mRNAs and acts as a molecular mediator between RNA polymerase II and U1 small nuclear ribonucleoprotein thereby coupling transcription and splicing (PubMed:26124092). Binds also its own pre-mRNA and autoregulates its expression; this autoregulation mechanism is mediated by non-sense-mediated decay (PubMed:24204307). Plays a role in DNA repair mechanisms by promoting D-loop formation and homologous recombination during DNA double-strand break repair (PubMed:10567410). In neuronal cells, plays crucial roles in dendritic spine formation and stability, RNA transport, mRNA stability and synaptic homeostasis (By similarity). {ECO:0000250|UniProtKB:P56959, ECO:0000269|PubMed:10567410, ECO:0000269|PubMed:24204307, ECO:0000269|PubMed:26124092, ECO:0000269|PubMed:27731383}.

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 NBPF12-FUS


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 NBPF12-FUS


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 NBPF12-FUS


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 NBPF12-FUS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFUSC1842675AMYOTROPHIC LATERAL SCLEROSIS 6 (disorder)5UNIPROT
TgeneFUSC3468114Juvenile amyotrophic lateral sclerosis5ORPHANET
TgeneFUSC0002736Amyotrophic Lateral Sclerosis2CTD_human;ORPHANET
TgeneFUSC0206634Liposarcoma, Myxoid2CTD_human;ORPHANET
TgeneFUSC0393554Amyotrophic Lateral Sclerosis With Dementia1CTD_human
TgeneFUSC0497327Dementia1GENOMICS_ENGLAND
TgeneFUSC0543859Amyotrophic Lateral Sclerosis, Guam Form1CTD_human
TgeneFUSC3539195TREMOR, HEREDITARY ESSENTIAL, 41CTD_human;UNIPROT
TgeneFUSC3888102Frontotemporal Dementia With Motor Neuron Disease1ORPHANET