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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SKIV2L-ABCA8

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SKIV2L-ABCA8
FusionPDB ID: 82142
FusionGDB2.0 ID: 82142
HgeneTgene
Gene symbol

SKIV2L

ABCA8

Gene ID

6499

10351

Gene nameSki2 like RNA helicaseATP binding cassette subfamily A member 8
Synonyms170A|DDX13|HLP|SKI2|SKI2W|SKIV2|SKIV2L1|THES2-
Cytomap

6p21.33

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionhelicase SKI2WSKI2 homolog, superkiller viralicidic activity 2-likehelicase-like proteinsuperkiller viralicidic activity 2-likeATP-binding cassette sub-family A member 8ATP-binding cassette, sub-family A (ABC1), member 8
Modification date2020031320200313
UniProtAcc.

O94911

Ensembl transtripts involved in fusion geneENST idsENST00000375394, ENST00000544581, 
ENST00000383336, ENST00000412823, 
ENST00000421789, ENST00000429465, 
ENST00000448219, ENST00000461360, 
ENST00000466463, ENST00000471547, 
ENST00000476338, ENST00000480914, 
ENST00000488648, 
ENST00000430352, 
ENST00000586539, ENST00000269080, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 5 X 5=1503 X 2 X 2=12
# samples 63
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SKIV2L [Title/Abstract] AND ABCA8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SKIV2L(31934591)-ABCA8(66864316), # samples:1
Anticipated loss of major functional domain due to fusion event.SKIV2L-ABCA8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SKIV2L-ABCA8 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SKIV2L-ABCA8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SKIV2L-ABCA8 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SKIV2L-ABCA8 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
SKIV2L-ABCA8 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
SKIV2L-ABCA8 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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

check buttonFusion gene breakpoints across SKIV2L (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ABCA8 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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/AAV702413SKIV2Lchr6

31934591

+ABCA8chr17

66864316

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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000375394SKIV2Lchr631934591+ENST00000269080ABCA8chr1766864316-32312347862437783
ENST00000544581SKIV2Lchr631934591+ENST00000269080ABCA8chr1766864316-272218381831928581

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
ENST00000375394ENST00000269080SKIV2Lchr631934591+ABCA8chr1766864316-0.0010927140.9989073
ENST00000544581ENST00000269080SKIV2Lchr631934591+ABCA8chr1766864316-0.0019459090.99805415

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>82142_82142_1_SKIV2L-ABCA8_SKIV2L_chr6_31934591_ENST00000375394_ABCA8_chr17_66864316_ENST00000269080_length(amino acids)=783AA_BP=754
MPGSCCGSRMMETERLVLPPPDPLDLPLRAVELGCTGHWELLNLPGAPESSLPHGLPPCAPDLQQEAEQLFLSSPAWLPLHGVEHSARKW
QRKTDPWSLLAVLGAPVPSDLQAQRHPTTGQILGYKEVLLENTNLSATTSLSLRRPPGPASQSLWGNPTQYPFWPGGMDEPTITDLNTRE
EAEEEIDFEKDLLTIPPGFKKGMDFAPKDCPTPAPGLLSLSCMLEPLDLGGGDEDENEAVGQPGGPRGDTVSASPCSAPLARASSLEDLV
LKEASTAVSTPEAPEPPSQEQWAIPVDATSPVGDFYRLIPQPAFQWAFEPDVFQKQAILHLERHDSVFVAAHTSAGKTVVAEYAIALAQK
HMTRTIYTSPIKALSNQKFRDFRNTFGDVGLLTGDVQLHPEASCLIMTTEILRSMLYSGSDVIRDLEWVIFDEVHYINDVERGVVWEEVL
IMLPDHVSIILLSATVPNALEFADWIGRLKRRQIYVISTVTRPVPLEHYLFTGNSSKTQGELFLLLDSRGAFHTKGYYAAVEAKKERMSK
HAQTFGAKQPTHQGGPAQDRGVYLSLLASLRTRAQLPVVVFTFSRGRCDEQASGLTSLDLTTSSEKSEIHLFLQRCLARLRGSDRQLPQV
LHMSELLNRGLGVHHSGILPILKEIVEMLFSRGLVKVLFATETFAMGVNMPARTVVFDSMRKHDGSTFRDLLPGEYVQMAGRAGRRGLDP

--------------------------------------------------------------

>82142_82142_2_SKIV2L-ABCA8_SKIV2L_chr6_31934591_ENST00000544581_ABCA8_chr17_66864316_ENST00000269080_length(amino acids)=581AA_BP=552
MDFAPKDCPTPAPGLLSLSCMLEPLDLGGGDEDENEAVGQPGGPRGDTVSASPCSAPLARASSLEDLVLKEASTAVSTPEAPEPPSQEQW
AIPVDATSPVGDFYRLIPQPAFQWAFEPDVFQKQAILHLERHDSVFVAAHTSAGKTVVAEYAIALAQKHMTRTIYTSPIKALSNQKFRDF
RNTFGDVGLLTGDVQLHPEASCLIMTTEILRSMLYSGSDVIRDLEWVIFDEVHYINDVERGVVWEEVLIMLPDHVSIILLSATVPNALEF
ADWIGRLKRRQIYVISTVTRPVPLEHYLFTGNSSKTQGELFLLLDSRGAFHTKGYYAAVEAKKERMSKHAQTFGAKQPTHQGGPAQDRGV
YLSLLASLRTRAQLPVVVFTFSRGRCDEQASGLTSLDLTTSSEKSEIHLFLQRCLARLRGSDRQLPQVLHMSELLNRGLGVHHSGILPIL
KEIVEMLFSRGLVKVLFATETFAMGVNMPARTVVFDSMRKHDGSTFRDLLPGEYVQMAGRAGRRGLDPTGTVILLCKGRVPEMADLHRMM

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Fusion Protein Functional Features


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/chr6:31934591/chr17:66864316)
- 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
.ABCA8

O94911

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: [Isoform 1]: Catalyzes the import of organic anions such as taurocholate and estrone sulfate in an ATP-dependent manner (PubMed:12379217). In vitro, also imports ochratoxin A (PubMed:12379217). In addition mediates the cholesterol efflux in an apolipoprotein independent manner an plays a role in sphingomyelin production in oligodendrocytes (PubMed:23560799). {ECO:0000269|PubMed:12379217, ECO:0000269|PubMed:23560799}.; FUNCTION: [Isoform 3]: Catalyzes the cholesterol and taurocholate efflux in an ATP-dependent manner (PubMed:29300488). Through the interaction with ABCA1 potentiates the cholesterol efflux to lipid-free APOA1, in turn regulates high-density lipoprotein cholesterol levels (PubMed:28882873). {ECO:0000269|PubMed:28882873, ECO:0000269|PubMed:29300488}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381285_151801582.0DomainABC transporter 2
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038480_71501582.0DomainABC transporter 1
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381285_151801622.0DomainABC transporter 2
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038480_71501622.0DomainABC transporter 1
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381323_133001582.0Nucleotide bindingATP 2
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038516_52301582.0Nucleotide bindingATP 1
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381323_133001622.0Nucleotide bindingATP 2
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038516_52301622.0Nucleotide bindingATP 1
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381019_103901582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381070_109001582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381106_112601582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381136_115601582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381161_118101582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000002690800381197_121701582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038220_24001582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038268_28801582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038299_31901582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST0000026908003830_5001582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038327_34701582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038359_37901582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038397_41701582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000269080038864_88401582.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381019_103901622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381070_109001622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381106_112601622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381136_115601622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381161_118101622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST000004303520381197_121701622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038220_24001622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038268_28801622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038299_31901622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST0000043035203830_5001622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038327_34701622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038359_37901622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038397_41701622.0TransmembraneHelical
TgeneABCA8chr6:31934591chr17:66864316ENST00000430352038864_88401622.0TransmembraneHelical

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000375394+128319_47501247.0DomainHelicase ATP-binding
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000375394+128585_75501247.0DomainHelicase C-terminal
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000383336+128319_47501247.0DomainHelicase ATP-binding
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000383336+128585_75501247.0DomainHelicase C-terminal
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000412823+128319_47501247.0DomainHelicase ATP-binding
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000412823+128585_75501247.0DomainHelicase C-terminal
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000421789+128319_47501247.0DomainHelicase ATP-binding
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000421789+128585_75501247.0DomainHelicase C-terminal
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000429465+128319_47501247.0DomainHelicase ATP-binding
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000429465+128585_75501247.0DomainHelicase C-terminal
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000448219+128319_47501247.0DomainHelicase ATP-binding
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000448219+128585_75501247.0DomainHelicase C-terminal
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000375394+128423_42601247.0MotifNote=DEVH box
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000383336+128423_42601247.0MotifNote=DEVH box
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000412823+128423_42601247.0MotifNote=DEVH box
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000421789+128423_42601247.0MotifNote=DEVH box
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000429465+128423_42601247.0MotifNote=DEVH box
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000448219+128423_42601247.0MotifNote=DEVH box
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000375394+128332_33901247.0Nucleotide bindingATP
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000383336+128332_33901247.0Nucleotide bindingATP
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000412823+128332_33901247.0Nucleotide bindingATP
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000421789+128332_33901247.0Nucleotide bindingATP
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000429465+128332_33901247.0Nucleotide bindingATP
HgeneSKIV2Lchr6:31934591chr17:66864316ENST00000448219+128332_33901247.0Nucleotide bindingATP


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SKIV2L
ABCA8


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to SKIV2L-ABCA8


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to SKIV2L-ABCA8


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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