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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:SLC45A3-PHYKPL (FusionGDB2 ID:82753)

Fusion Gene Summary for SLC45A3-PHYKPL

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC45A3-PHYKPL
Fusion gene ID: 82753
HgeneTgene
Gene symbol

SLC45A3

PHYKPL

Gene ID

85414

85007

Gene namesolute carrier family 45 member 35-phosphohydroxy-L-lysine phospho-lyase
SynonymsIPCA-2|IPCA-6|IPCA-8|IPCA6|PCANAP2|PCANAP6|PCANAP8|PRSTAGXT2L2|PHLU
Cytomap

1q32.1

5q35.3

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 45 member 3prostate cancer associated protein 2prostate cancer associated protein 6prostate cancer associated protein 8prostate cancer-associated gene 2prostate cancer-associated gene 6prostate cancer-associated gene 8prostein5-phosphohydroxy-L-lysine phospho-lyase5-phosphonooxy-L-lysine phospho-lyasealanine--glyoxylate aminotransferase 2-like 2
Modification date2020031320200327
UniProtAcc.

Q8IUZ5

Ensembl transtripts involved in fusion geneENST00000460934, ENST00000367145, 
ENST00000308158, ENST00000481811, 
ENST00000476170, 
Fusion gene scores* DoF score21 X 18 X 4=15126 X 6 X 3=108
# samples 337
** MAII scorelog2(33/1512*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC45A3 [Title/Abstract] AND PHYKPL [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSLC45A3(205628617)-PHYKPL(177638971), # samples:2
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

check buttonFusion gene breakpoints across SLC45A3 (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 PHYKPL (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-HC-7213-01ASLC45A3chr1

205628617

-PHYKPLchr5

177638971

-
ChimerDB4PRADTCGA-HC-7213SLC45A3chr1

205615850

-PHYKPLchr5

177638971

-
ChimerDB4PRADTCGA-HC-7213SLC45A3chr1

205628617

-PHYKPLchr5

177638971

-


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Fusion Gene ORF analysis for SLC45A3-PHYKPL

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-3CDSENST00000460934ENST00000308158SLC45A3chr1

205628617

-PHYKPLchr5

177638971

-
intron-5UTRENST00000460934ENST00000481811SLC45A3chr1

205628617

-PHYKPLchr5

177638971

-
intron-intronENST00000460934ENST00000476170SLC45A3chr1

205628617

-PHYKPLchr5

177638971

-
intron-3CDSENST00000367145ENST00000308158SLC45A3chr1

205628617

-PHYKPLchr5

177638971

-
intron-5UTRENST00000367145ENST00000481811SLC45A3chr1

205628617

-PHYKPLchr5

177638971

-
intron-intronENST00000367145ENST00000476170SLC45A3chr1

205628617

-PHYKPLchr5

177638971

-
intron-3CDSENST00000460934ENST00000308158SLC45A3chr1

205615850

-PHYKPLchr5

177638971

-
intron-5UTRENST00000460934ENST00000481811SLC45A3chr1

205615850

-PHYKPLchr5

177638971

-
intron-intronENST00000460934ENST00000476170SLC45A3chr1

205615850

-PHYKPLchr5

177638971

-
intron-3CDSENST00000367145ENST00000308158SLC45A3chr1

205615850

-PHYKPLchr5

177638971

-
intron-5UTRENST00000367145ENST00000481811SLC45A3chr1

205615850

-PHYKPLchr5

177638971

-
intron-intronENST00000367145ENST00000476170SLC45A3chr1

205615850

-PHYKPLchr5

177638971

-

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 SLC45A3-PHYKPL


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 SLC45A3-PHYKPL


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
.PHYKPL

Q8IUZ5

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: Catalyzes the pyridoxal-phosphate-dependent breakdown of 5-phosphohydroxy-L-lysine, converting it to ammonia, inorganic phosphate and 2-aminoadipate semialdehyde. {ECO:0000269|PubMed:22241472}.

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 SLC45A3-PHYKPL


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 SLC45A3-PHYKPL


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 SLC45A3-PHYKPL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePHYKPLQ8IUZ5DB00114Pyridoxal phosphateCofactorSmall moleculeApproved|Investigational|Nutraceutical
TgenePHYKPLQ8IUZ5DB00114Pyridoxal phosphateCofactorSmall moleculeApproved|Investigational|Nutraceutical
TgenePHYKPLQ8IUZ5DB00114Pyridoxal phosphateCofactorSmall moleculeApproved|Investigational|Nutraceutical

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Related Diseases for SLC45A3-PHYKPL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePHYKPLC3554344Phosphohydroxylysinuria2GENOMICS_ENGLAND;UNIPROT