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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:S100A6-PRPF8 (FusionGDB2 ID:78406)

Fusion Gene Summary for S100A6-PRPF8

check button Fusion gene summary
Fusion gene informationFusion gene name: S100A6-PRPF8
Fusion gene ID: 78406
HgeneTgene
Gene symbol

S100A6

PRPF8

Gene ID

6277

10594

Gene nameS100 calcium binding protein A6pre-mRNA processing factor 8
Synonyms2A9|5B10|CABP|CACY|PRA|S10A6HPRP8|PRP8|PRPC8|RP13|SNRNP220
Cytomap

1q21.3

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionprotein S100-A6MLN 4calcyclingrowth factor-inducible protein 2A9prolactin receptor-associated proteinpre-mRNA-processing-splicing factor 8220 kDa U5 snRNP-specific proteinPRP8 homologPRP8 pre-mRNA processing factor 8 homologU5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8papoptosis-regulated protein 1apoptosis-regulated protein 2
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000496817, ENST00000368719, 
ENST00000368720, 		ENST00000304992, 
ENST00000572621, ENST00000575116, 
Fusion gene scores* DoF score19 X 8 X 10=15208 X 13 X 6=624
# samples 2015
** MAII scorelog2(20/1520*10)=-2.92599941855622
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/624*10)=-2.05658352836637
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: S100A6 [Title/Abstract] AND PRPF8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointS100A6(153507276)-PRPF8(1583030), # samples:1
S100A6(153507284)-PRPF8(1579934), # 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
TgenePRPF8

GO:0000244

spliceosomal tri-snRNP complex assembly

20595234

TgenePRPF8

GO:0000398

mRNA splicing, via spliceosome

28781166|29301961


check buttonFusion gene breakpoints across S100A6 (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 PRPF8 (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
ChiTaRS5.0N/AAU134329S100A6chr1

153507276

-PRPF8chr17

1583030

-
ChiTaRS5.0N/ADB371979S100A6chr1

153507284

+PRPF8chr17

1579934

+


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Fusion Gene ORF analysis for S100A6-PRPF8

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-3CDSENST00000496817ENST00000304992S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-3CDSENST00000496817ENST00000572621S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-intronENST00000496817ENST00000575116S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-3CDSENST00000368719ENST00000304992S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-3CDSENST00000368719ENST00000572621S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-intronENST00000368719ENST00000575116S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-3CDSENST00000368720ENST00000304992S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-3CDSENST00000368720ENST00000572621S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-intronENST00000368720ENST00000575116S100A6chr1

153507276

-PRPF8chr17

1583030

-
intron-3CDSENST00000496817ENST00000304992S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-3CDSENST00000496817ENST00000572621S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-intronENST00000496817ENST00000575116S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-3CDSENST00000368719ENST00000304992S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-3CDSENST00000368719ENST00000572621S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-intronENST00000368719ENST00000575116S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-3CDSENST00000368720ENST00000304992S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-3CDSENST00000368720ENST00000572621S100A6chr1

153507284

+PRPF8chr17

1579934

+
intron-intronENST00000368720ENST00000575116S100A6chr1

153507284

+PRPF8chr17

1579934

+

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 S100A6-PRPF8


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 S100A6-PRPF8


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 S100A6-PRPF8


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 S100A6-PRPF8


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 S100A6-PRPF8


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 S100A6-PRPF8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneS100A6C0002152Alloxan Diabetes1CTD_human
HgeneS100A6C0007097Carcinoma1CTD_human
HgeneS100A6C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneS100A6C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneS100A6C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneS100A6C0024667Animal Mammary Neoplasms1CTD_human
HgeneS100A6C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneS100A6C0025149Medulloblastoma1CTD_human
HgeneS100A6C0038433Streptozotocin Diabetes1CTD_human
HgeneS100A6C0205696Anaplastic carcinoma1CTD_human
HgeneS100A6C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneS100A6C0205698Undifferentiated carcinoma1CTD_human
HgeneS100A6C0205699Carcinomatosis1CTD_human
HgeneS100A6C0205833Medullomyoblastoma1CTD_human
HgeneS100A6C0265110Cerebral Vasospasm1CTD_human
HgeneS100A6C0278510Childhood Medulloblastoma1CTD_human
HgeneS100A6C0278876Adult Medulloblastoma1CTD_human
HgeneS100A6C0751291Desmoplastic Medulloblastoma1CTD_human
HgeneS100A6C0751895Vasospasm, Intracranial1CTD_human
HgeneS100A6C1257925Mammary Carcinoma, Animal1CTD_human
HgeneS100A6C1275668Melanotic medulloblastoma1CTD_human
TgenePRPF8C1838702Retinitis Pigmentosa 134CTD_human;GENOMICS_ENGLAND;UNIPROT
TgenePRPF8C0019693HIV Infections1CTD_human
TgenePRPF8C0038454Cerebrovascular accident1CTD_human
TgenePRPF8C0751956Acute Cerebrovascular Accidents1CTD_human
TgenePRPF8C4505456HIV Coinfection1CTD_human