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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:FUT8-ACTN1 (FusionGDB2 ID:31729)

Fusion Gene Summary for FUT8-ACTN1

check button Fusion gene summary
Fusion gene informationFusion gene name: FUT8-ACTN1
Fusion gene ID: 31729
HgeneTgene
Gene symbol

FUT8

ACTN1

Gene ID

2530

87

Gene namefucosyltransferase 8actinin alpha 1
SynonymsCDGF|CDGF1BDPLT15
Cytomap

14q23.3

14q24.1|14q22-q24

Type of geneprotein-codingprotein-coding
Descriptionalpha-(1,6)-fucosyltransferaseGDP-L-Fuc:N-acetyl-beta-D-glucosaminide alpha1,6-fucosyltransferaseGDP-fucose--glycoprotein fucosyltransferasealpha1-6FucTfucosyltransferase 8 (alpha (1,6) fucosyltransferase)glycoprotein 6-alpha-L-fucosyltransferasealpha-actinin-1F-actin cross-linking proteinactinin 1 smooth musclealpha-actinin cytoskeletal isoformepididymis secretory sperm binding proteinnon-muscle alpha-actinin-1
Modification date2020032220200327
UniProtAcc.

P12814

Ensembl transtripts involved in fusion geneENST00000360689, ENST00000394586, 
ENST00000557164, ENST00000394585, 
ENST00000358307, ENST00000417683, 
ENST00000554765, 		ENST00000193403, 
ENST00000394419, ENST00000438964, 
ENST00000376839, ENST00000538545, 
ENST00000554508, 
Fusion gene scores* DoF score15 X 10 X 7=105017 X 18 X 5=1530
# samples 1820
** MAII scorelog2(18/1050*10)=-2.54432051622381
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(20/1530*10)=-2.93545974780529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FUT8 [Title/Abstract] AND ACTN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFUT8(65922436)-ACTN1(69392389), # 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
HgeneFUT8

GO:0018279

protein N-linked glycosylation via asparagine

17172260

HgeneFUT8

GO:0046368

GDP-L-fucose metabolic process

17172260


check buttonFusion gene breakpoints across FUT8 (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 ACTN1 (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
ChimerDB4STADTCGA-BR-8284-01AFUT8chr14

65922436

+ACTN1chr14

69392389

-


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Fusion Gene ORF analysis for FUT8-ACTN1

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-3CDSENST00000360689ENST00000193403FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000360689ENST00000394419FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000360689ENST00000438964FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000360689ENST00000376839FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000360689ENST00000538545FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-intronENST00000360689ENST00000554508FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000394586ENST00000193403FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000394586ENST00000394419FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000394586ENST00000438964FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-5UTRENST00000394586ENST00000376839FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-5UTRENST00000394586ENST00000538545FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-intronENST00000394586ENST00000554508FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000557164ENST00000193403FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000557164ENST00000394419FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000557164ENST00000438964FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000557164ENST00000376839FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000557164ENST00000538545FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-intronENST00000557164ENST00000554508FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000394585ENST00000193403FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000394585ENST00000394419FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000394585ENST00000438964FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000394585ENST00000376839FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000394585ENST00000538545FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-intronENST00000394585ENST00000554508FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000358307ENST00000193403FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000358307ENST00000394419FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-3CDSENST00000358307ENST00000438964FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000358307ENST00000376839FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-5UTRENST00000358307ENST00000538545FUT8chr14

65922436

+ACTN1chr14

69392389

-
5UTR-intronENST00000358307ENST00000554508FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000417683ENST00000193403FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000417683ENST00000394419FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000417683ENST00000438964FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-5UTRENST00000417683ENST00000376839FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-5UTRENST00000417683ENST00000538545FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-intronENST00000417683ENST00000554508FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000554765ENST00000193403FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000554765ENST00000394419FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-3CDSENST00000554765ENST00000438964FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-5UTRENST00000554765ENST00000376839FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-5UTRENST00000554765ENST00000538545FUT8chr14

65922436

+ACTN1chr14

69392389

-
intron-intronENST00000554765ENST00000554508FUT8chr14

65922436

+ACTN1chr14

69392389

-

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 FUT8-ACTN1


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.

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Fusion Protein Features for FUT8-ACTN1


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
.ACTN1

P12814

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: F-actin cross-linking protein which is thought to anchor actin to a variety of intracellular structures. This is a bundling protein.

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 FUT8-ACTN1


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 FUT8-ACTN1


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 FUT8-ACTN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneACTN1P12814DB06773Human calcitoninIncorporation into and destabilizationBiotechApproved|Investigational
TgeneACTN1P12814DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for FUT8-ACTN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFUT8C4693905CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION3GENOMICS_ENGLAND;UNIPROT
HgeneFUT8C0036341Schizophrenia2PSYGENET
HgeneFUT8C0036572Seizures1GENOMICS_ENGLAND
HgeneFUT8C0809983Schizophrenia and related disorders1PSYGENET
HgeneFUT8C3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneACTN1C3554663BLEEDING DISORDER, PLATELET-TYPE, 153CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneACTN1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneACTN1C4304021Autosomal dominant macrothrombocytopenia1ORPHANET