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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:ARHGAP12-SLAMF6 (FusionGDB2 ID:HG94134TG114836)

Fusion Gene Summary for ARHGAP12-SLAMF6

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP12-SLAMF6
Fusion gene ID: hg94134tg114836
HgeneTgene
Gene symbol

ARHGAP12

SLAMF6

Gene ID

94134

114836

Gene nameRho GTPase activating protein 12SLAM family member 6
Synonyms-CD352|KALI|KALIb|Ly108|NTB-A|NTBA|SF2000
Cytomap('ARHGAP12')('SLAMF6')

10p11.22

1q23.2-q23.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 12rho-type GTPase-activating protein 12SLAM family member 6NK-T-B-antigenNTBA receptoractivating NK receptornatural killer-, T- and B-cell antigen
Modification date2020031320200313
UniProtAcc

Q8IWW6

.
Ensembl transtripts involved in fusion geneENST00000344936, ENST00000375245, 
ENST00000375250, ENST00000396144, 
ENST00000311380, ENST00000492028, 
Fusion gene scores* DoF score9 X 8 X 7=5041 X 1 X 1=1
# samples 111
** MAII scorelog2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ARHGAP12 [Title/Abstract] AND SLAMF6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGAP12(32217610)-SLAMF6(160466183), # 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
TgeneSLAMF6

GO:0032740

positive regulation of interleukin-17 production

22184727

TgeneSLAMF6

GO:0045954

positive regulation of natural killer cell mediated cytotoxicity

16920955

TgeneSLAMF6

GO:0072540

T-helper 17 cell lineage commitment

22184727



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
ChimerDB4UCECTCGA-B5-A0KBARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-


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Fusion Gene ORF analysis for ARHGAP12-SLAMF6

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-3CDSENST00000344936ENST00000368057ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-3CDSENST00000344936ENST00000368059ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-3CDSENST00000375245ENST00000368057ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-3CDSENST00000375245ENST00000368059ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-3CDSENST00000375250ENST00000368057ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-3CDSENST00000375250ENST00000368059ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-3CDSENST00000396144ENST00000368057ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-3CDSENST00000396144ENST00000368059ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-intronENST00000344936ENST00000368055ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-intronENST00000375245ENST00000368055ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-intronENST00000375250ENST00000368055ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
5UTR-intronENST00000396144ENST00000368055ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
intron-3CDSENST00000311380ENST00000368057ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
intron-3CDSENST00000311380ENST00000368059ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
intron-3CDSENST00000492028ENST00000368057ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
intron-3CDSENST00000492028ENST00000368059ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
intron-intronENST00000311380ENST00000368055ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-
intron-intronENST00000492028ENST00000368055ARHGAP12chr10

32217610

-SLAMF6chr1

160466183

-

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 ARHGAP12-SLAMF6


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)


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Fusion Protein Features for ARHGAP12-SLAMF6


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/:32217610/:160466183)
- 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
ARHGAP12

Q8IWW6

.
FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {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


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Fusion Gene Sequence for ARHGAP12-SLAMF6


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 ARHGAP12-SLAMF6


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 ARHGAP12-SLAMF6


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 ARHGAP12-SLAMF6


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