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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:FZR1-SH3YL1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: FZR1-SH3YL1
FusionPDB ID: 31977
FusionGDB2.0 ID: 31977
HgeneTgene
Gene symbol

FZR1

SH3YL1

Gene ID

51343

26751

Gene namefizzy and cell division cycle 20 related 1SH3 and SYLF domain containing 1
SynonymsCDC20C|CDH1|FZR|FZR2|HCDH|HCDH1RAY
Cytomap

19p13.3

2p25.3

Type of geneprotein-codingprotein-coding
Descriptionfizzy-related protein homologCDC20 homolog 1CDC20-like 1bCDC20-like protein 1cdh1/Hct1 homologfizzy/cell division cycle 20 related 1SH3 domain-containing YSC84-like protein 1SH3 domain containing, Ysc84-like 1
Modification date2020031320200313
UniProtAcc

Q9UM11

.
Ensembl transtripts involved in fusion geneENST idsENST00000313639, ENST00000395095, 
ENST00000441788, 
ENST00000468321, 
ENST00000402632, ENST00000403657, 
ENST00000415006, ENST00000356150, 
ENST00000403658, ENST00000403712, 
ENST00000405430, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score11 X 9 X 10=99010 X 5 X 4=200
# samples 1510
** MAII scorelog2(15/990*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/200*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: FZR1 [Title/Abstract] AND SH3YL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)FZR1(3523056)-SH3YL1(230044), # samples:1
Anticipated loss of major functional domain due to fusion event.FZR1-SH3YL1 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.
FZR1-SH3YL1 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.
FZR1-SH3YL1 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.
FZR1-SH3YL1 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.
* 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
HgeneFZR1

GO:0031145

anaphase-promoting complex-dependent catabolic process

18662541|21596315

HgeneFZR1

GO:0072425

signal transduction involved in G2 DNA damage checkpoint

18662541

HgeneFZR1

GO:1904668

positive regulation of ubiquitin protein ligase activity

11459826


check buttonFusion gene breakpoints across FZR1 (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 SH3YL1 (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
ChimerDB4STADTCGA-IN-7808-01AFZR1chr19

3523056

+SH3YL1chr2

230044

-


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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)
ENST00000441788FZR1chr193523056+ENST00000403712SH3YL1chr2230044-1250305209574121
ENST00000441788FZR1chr193523056+ENST00000405430SH3YL1chr2230044-1290305209631140
ENST00000441788FZR1chr193523056+ENST00000356150SH3YL1chr2230044-1285305209631140
ENST00000441788FZR1chr193523056+ENST00000403658SH3YL1chr2230044-720305209574121
ENST00000313639FZR1chr193523056+ENST00000403712SH3YL1chr2230044-1014690338112
ENST00000313639FZR1chr193523056+ENST00000405430SH3YL1chr2230044-1054690395131
ENST00000313639FZR1chr193523056+ENST00000356150SH3YL1chr2230044-1049690395131
ENST00000313639FZR1chr193523056+ENST00000403658SH3YL1chr2230044-484690338112
ENST00000395095FZR1chr193523056+ENST00000403712SH3YL1chr2230044-1014690338112
ENST00000395095FZR1chr193523056+ENST00000405430SH3YL1chr2230044-1054690395131
ENST00000395095FZR1chr193523056+ENST00000356150SH3YL1chr2230044-1049690395131
ENST00000395095FZR1chr193523056+ENST00000403658SH3YL1chr2230044-484690338112

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
ENST00000441788ENST00000403712FZR1chr193523056+SH3YL1chr2230044-0.0177467610.98225325
ENST00000441788ENST00000405430FZR1chr193523056+SH3YL1chr2230044-0.0069487830.9930513
ENST00000441788ENST00000356150FZR1chr193523056+SH3YL1chr2230044-0.007011410.99298865
ENST00000441788ENST00000403658FZR1chr193523056+SH3YL1chr2230044-0.03060810.96939194
ENST00000313639ENST00000403712FZR1chr193523056+SH3YL1chr2230044-0.0119451950.9880548
ENST00000313639ENST00000405430FZR1chr193523056+SH3YL1chr2230044-0.004316790.9956832
ENST00000313639ENST00000356150FZR1chr193523056+SH3YL1chr2230044-0.0043626830.99563736
ENST00000313639ENST00000403658FZR1chr193523056+SH3YL1chr2230044-0.0167632980.98323673
ENST00000395095ENST00000403712FZR1chr193523056+SH3YL1chr2230044-0.0119451950.9880548
ENST00000395095ENST00000405430FZR1chr193523056+SH3YL1chr2230044-0.004316790.9956832
ENST00000395095ENST00000356150FZR1chr193523056+SH3YL1chr2230044-0.0043626830.99563736
ENST00000395095ENST00000403658FZR1chr193523056+SH3YL1chr2230044-0.0167632980.98323673

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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

>31977_31977_1_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000313639_SH3YL1_chr2_230044_ENST00000356150_length(amino acids)=131AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGD

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

>31977_31977_2_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000313639_SH3YL1_chr2_230044_ENST00000403658_length(amino acids)=112AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSHF

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

>31977_31977_3_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000313639_SH3YL1_chr2_230044_ENST00000403712_length(amino acids)=112AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSHF

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

>31977_31977_4_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000313639_SH3YL1_chr2_230044_ENST00000405430_length(amino acids)=131AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGD

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

>31977_31977_5_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000395095_SH3YL1_chr2_230044_ENST00000356150_length(amino acids)=131AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGD

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

>31977_31977_6_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000395095_SH3YL1_chr2_230044_ENST00000403658_length(amino acids)=112AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSHF

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

>31977_31977_7_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000395095_SH3YL1_chr2_230044_ENST00000403712_length(amino acids)=112AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNLNQPIEVTALYSFEGQQPGDLNFQAGDRITVISKTDSHF

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

>31977_31977_8_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000395095_SH3YL1_chr2_230044_ENST00000405430_length(amino acids)=131AA_BP=23
MDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALYSFEGQQPGD

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

>31977_31977_9_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000441788_SH3YL1_chr2_230044_ENST00000356150_length(amino acids)=140AA_BP=32
MPRAEPCLAMDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALY

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

>31977_31977_10_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000441788_SH3YL1_chr2_230044_ENST00000403658_length(amino acids)=121AA_BP=32
MPRAEPCLAMDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNLNQPIEVTALYSFEGQQPGDLNFQAGDRIT

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

>31977_31977_11_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000441788_SH3YL1_chr2_230044_ENST00000403712_length(amino acids)=121AA_BP=32
MPRAEPCLAMDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNLNQPIEVTALYSFEGQQPGDLNFQAGDRIT

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

>31977_31977_12_FZR1-SH3YL1_FZR1_chr19_3523056_ENST00000441788_SH3YL1_chr2_230044_ENST00000405430_length(amino acids)=140AA_BP=32
MPRAEPCLAMDQDYERRLLRQIVIQNENTMPRAKELPPKPLSRPQQSSAPVQLNSGSQSNRNEYKLYPGLSSYHERVGNLNQPIEVTALY

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

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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/chr19:3523056/chr2:230044)
- 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
FZR1

Q9UM11

.
FUNCTION: Substrate-specific adapter for the anaphase promoting complex/cyclosome (APC/C) E3 ubiquitin-protein ligase complex. Associates with the APC/C in late mitosis, in replacement of CDC20, and activates the APC/C during anaphase and telophase. The APC/C remains active in degrading substrates to ensure that positive regulators of the cell cycle do not accumulate prematurely. At the G1/S transition FZR1 is phosphorylated, leading to its dissociation from the APC/C. Following DNA damage, it is required for the G2 DNA damage checkpoint: its dephosphorylation and reassociation with the APC/C leads to the ubiquitination of PLK1, preventing entry into mitosis. Acts as an adapter for APC/C to target the DNA-end resection factor RBBP8/CtIP for ubiquitination and subsequent proteasomal degradation. Through the regulation of RBBP8/CtIP protein turnover, may play a role in DNA damage response, favoring DNA double-strand repair through error-prone non-homologous end joining (NHEJ) over error-free, RBBP8-mediated homologous recombination (HR) (PubMed:25349192). {ECO:0000269|PubMed:18662541, ECO:0000269|PubMed:21596315, ECO:0000269|PubMed:25349192, ECO:0000269|PubMed:9734353}.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSH3YL1chr19:3523056chr2:230044ENST00000356150610283_342234.0343.0DomainSH3
TgeneSH3YL1chr19:3523056chr2:230044ENST0000040263207283_3420945.3333333333334DomainSH3
TgeneSH3YL1chr19:3523056chr2:230044ENST00000403657912283_342138.0228.0DomainSH3
TgeneSH3YL1chr19:3523056chr2:230044ENST00000403658811283_342138.0228.0DomainSH3
TgeneSH3YL1chr19:3523056chr2:230044ENST0000040371269283_342234.0324.0DomainSH3
TgeneSH3YL1chr19:3523056chr2:230044ENST00000405430812283_342234.0343.0DomainSH3
TgeneSH3YL1chr19:3523056chr2:230044ENST0000041500637283_342138.0247.0DomainSH3

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+11147_5223.0405.0RegionInvolved in APC/FZR1 E3 ubiquitin-protein ligase complex activity
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+11347_5223.0497.0RegionInvolved in APC/FZR1 E3 ubiquitin-protein ligase complex activity
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+21447_5223.0494.0RegionInvolved in APC/FZR1 E3 ubiquitin-protein ligase complex activity
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+111182_22223.0405.0RepeatNote=WD 1
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+111227_26623.0405.0RepeatNote=WD 2
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+111269_30623.0405.0RepeatNote=WD 3
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+111311_35023.0405.0RepeatNote=WD 4
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+111353_39523.0405.0RepeatNote=WD 5
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+111397_43823.0405.0RepeatNote=WD 6
HgeneFZR1chr19:3523056chr2:230044ENST00000313639+111441_48023.0405.0RepeatNote=WD 7
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+113182_22223.0497.0RepeatNote=WD 1
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+113227_26623.0497.0RepeatNote=WD 2
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+113269_30623.0497.0RepeatNote=WD 3
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+113311_35023.0497.0RepeatNote=WD 4
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+113353_39523.0497.0RepeatNote=WD 5
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+113397_43823.0497.0RepeatNote=WD 6
HgeneFZR1chr19:3523056chr2:230044ENST00000395095+113441_48023.0497.0RepeatNote=WD 7
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+214182_22223.0494.0RepeatNote=WD 1
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+214227_26623.0494.0RepeatNote=WD 2
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+214269_30623.0494.0RepeatNote=WD 3
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+214311_35023.0494.0RepeatNote=WD 4
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+214353_39523.0494.0RepeatNote=WD 5
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+214397_43823.0494.0RepeatNote=WD 6
HgeneFZR1chr19:3523056chr2:230044ENST00000441788+214441_48023.0494.0RepeatNote=WD 7


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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
FZR1
SH3YL1


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 FZR1-SH3YL1


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 FZR1-SH3YL1


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