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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:SLC30A6-ACTR2 (FusionGDB2 ID:82304)

Fusion Gene Summary for SLC30A6-ACTR2

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC30A6-ACTR2
Fusion gene ID: 82304
HgeneTgene
Gene symbol

SLC30A6

ACTR2

Gene ID

55676

10097

Gene namesolute carrier family 30 member 6actin related protein 2
SynonymsMST103|MSTP103|ZNT6ARP2
Cytomap

2p22.3

2p14

Type of geneprotein-codingprotein-coding
Descriptionzinc transporter 6solute carrier family 30 (zinc transporter), member 6actin-related protein 2ARP2 actin related protein 2 homologactin-like protein 2
Modification date2020031320200327
UniProtAcc.

P61160

Ensembl transtripts involved in fusion geneENST00000538303, ENST00000379343, 
ENST00000357055, ENST00000435660, 
ENST00000282587, ENST00000406369, 
ENST00000260641, ENST00000476840, 
ENST00000542850, ENST00000377982, 
Fusion gene scores* DoF score11 X 11 X 5=6056 X 6 X 3=108
# samples 136
** MAII scorelog2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC30A6 [Title/Abstract] AND ACTR2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC30A6(32399216)-ACTR2(65492177), # samples:3
Anticipated loss of major functional domain due to fusion event.SLC30A6-ACTR2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SLC30A6-ACTR2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
TgeneACTR2

GO:0034314

Arp2/3 complex-mediated actin nucleation

11741539|17220302|29925947

TgeneACTR2

GO:0045944

positive regulation of transcription by RNA polymerase II

17220302

TgeneACTR2

GO:1905168

positive regulation of double-strand break repair via homologous recombination

29925947

TgeneACTR2

GO:2001032

regulation of double-strand break repair via nonhomologous end joining

29925947


check buttonFusion gene breakpoints across SLC30A6 (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 ACTR2 (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
ChimerDB4PRADTCGA-EJ-7312-01BSLC30A6chr2

32399216

+ACTR2chr2

65492177

+
ChimerDB4PRADTCGA-EJ-7312SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
ChimerDB4PRADTCGA-EJ-7312-01BSLC30A6chr2

32399216

-ACTR2chr2

65492177

+


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Fusion Gene ORF analysis for SLC30A6-ACTR2

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
Frame-shiftENST00000538303ENST00000260641SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000538303ENST00000476840SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000538303ENST00000542850SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000538303ENST00000377982SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
Frame-shiftENST00000379343ENST00000260641SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000379343ENST00000476840SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000379343ENST00000542850SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000379343ENST00000377982SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5UTR-3CDSENST00000357055ENST00000260641SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5UTR-intronENST00000357055ENST00000476840SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5UTR-intronENST00000357055ENST00000542850SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5UTR-intronENST00000357055ENST00000377982SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
Frame-shiftENST00000435660ENST00000260641SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000435660ENST00000476840SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000435660ENST00000542850SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000435660ENST00000377982SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
Frame-shiftENST00000282587ENST00000260641SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000282587ENST00000476840SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000282587ENST00000542850SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
5CDS-intronENST00000282587ENST00000377982SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
intron-3CDSENST00000406369ENST00000260641SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
intron-intronENST00000406369ENST00000476840SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
intron-intronENST00000406369ENST00000542850SLC30A6chr2

32399216

+ACTR2chr2

65492177

+
intron-intronENST00000406369ENST00000377982SLC30A6chr2

32399216

+ACTR2chr2

65492177

+

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 SLC30A6-ACTR2


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)
SLC30A6chr232399216+ACTR2chr265492176+7.12E-070.9999993
SLC30A6chr232399216+ACTR2chr265492176+7.12E-070.9999993
SLC30A6chr232399216+ACTR2chr265492176+7.12E-070.9999993
SLC30A6chr232399216+ACTR2chr265492176+7.12E-070.9999993

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 SLC30A6-ACTR2


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
.ACTR2

P61160

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: ATP-binding component of the Arp2/3 complex, a multiprotein complex that mediates actin polymerization upon stimulation by nucleation-promoting factor (NPF) (PubMed:9000076). The Arp2/3 complex mediates the formation of branched actin networks in the cytoplasm, providing the force for cell motility (PubMed:9000076). Seems to contact the pointed end of the daughter actin filament (PubMed:9000076). In podocytes, required for the formation of lamellipodia downstream of AVIL and PLCE1 regulation (PubMed:29058690). In addition to its role in the cytoplasmic cytoskeleton, the Arp2/3 complex also promotes actin polymerization in the nucleus, thereby regulating gene transcription and repair of damaged DNA (PubMed:17220302, PubMed:29925947). The Arp2/3 complex promotes homologous recombination (HR) repair in response to DNA damage by promoting nuclear actin polymerization, leading to drive motility of double-strand breaks (DSBs) (PubMed:29925947). {ECO:0000269|PubMed:17220302, ECO:0000269|PubMed:29058690, ECO:0000269|PubMed:29925947, ECO:0000269|PubMed:9000076}.

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 SLC30A6-ACTR2


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 SLC30A6-ACTR2


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 SLC30A6-ACTR2


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 SLC30A6-ACTR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC30A6C0002395Alzheimer's Disease1CTD_human
HgeneSLC30A6C0011265Presenile dementia1CTD_human
HgeneSLC30A6C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneSLC30A6C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneSLC30A6C0546126Acute Confusional Senile Dementia1CTD_human
HgeneSLC30A6C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneSLC30A6C0750901Alzheimer Disease, Early Onset1CTD_human
TgeneACTR2C0036341Schizophrenia1PSYGENET