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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:KIAA0907-RPS15A (FusionGDB2 ID:42006)

Fusion Gene Summary for KIAA0907-RPS15A

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0907-RPS15A
Fusion gene ID: 42006
HgeneTgene
Gene symbol

KIAA0907

RPS15A

Gene ID

22889

6210

Gene nameKH domain containing 4, pre-mRNA splicing factorribosomal protein S15a
SynonymsBLOM7|KIAA0907|SNORA80EHGDBA20|S15a
Cytomap

1q22

16p12.3

Type of geneprotein-codingprotein-coding
DescriptionKH homology domain-containing protein 4brings lots of money 7pre-mRNA splicing factor protein KHDC4protein BLOM740S ribosomal protein S15asmall ribosomal subunit protein uS8up-regulated by HBV X protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000368321, ENST00000368320, 
ENST00000368319, ENST00000482337, 
ENST00000322989, ENST00000563390, 
ENST00000575669, ENST00000576436, 
ENST00000565420, ENST00000569083, 
Fusion gene scores* DoF score10 X 11 X 9=99010 X 8 X 6=480
# samples 1310
** MAII scorelog2(13/990*10)=-2.92891690193852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/480*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA0907 [Title/Abstract] AND RPS15A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA0907(155884004)-RPS15A(18801659), # 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
HgeneKIAA0907

GO:0006376

mRNA splice site selection

19641227

TgeneRPS15A

GO:0008284

positive regulation of cell proliferation

15108328

TgeneRPS15A

GO:0009615

response to virus

15108328

TgeneRPS15A

GO:0045787

positive regulation of cell cycle

15108328


check buttonFusion gene breakpoints across KIAA0907 (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 RPS15A (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
ChimerDB4COADTCGA-5M-AAT4-01AKIAA0907chr1

155884004

-RPS15Achr16

18801659

-


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Fusion Gene ORF analysis for KIAA0907-RPS15A

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
intron-3CDSENST00000368321ENST00000322989KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-5UTRENST00000368321ENST00000563390KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368321ENST00000575669KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368321ENST00000576436KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368321ENST00000565420KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368321ENST00000569083KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-3CDSENST00000368320ENST00000322989KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-5UTRENST00000368320ENST00000563390KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368320ENST00000575669KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368320ENST00000576436KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368320ENST00000565420KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368320ENST00000569083KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-3CDSENST00000368319ENST00000322989KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-5UTRENST00000368319ENST00000563390KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368319ENST00000575669KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368319ENST00000576436KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368319ENST00000565420KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000368319ENST00000569083KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-3CDSENST00000482337ENST00000322989KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-5UTRENST00000482337ENST00000563390KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000482337ENST00000575669KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000482337ENST00000576436KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000482337ENST00000565420KIAA0907chr1

155884004

-RPS15Achr16

18801659

-
intron-intronENST00000482337ENST00000569083KIAA0907chr1

155884004

-RPS15Achr16

18801659

-

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 KIAA0907-RPS15A


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 KIAA0907-RPS15A


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
..
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: 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.

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 KIAA0907-RPS15A


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 KIAA0907-RPS15A


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 KIAA0907-RPS15A


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 KIAA0907-RPS15A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRPS15AC1260899Anemia, Diamond-Blackfan1ORPHANET
TgeneRPS15AC2931850Aase Smith syndrome 21ORPHANET