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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:SOX5-GUCY2C

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SOX5-GUCY2C
FusionPDB ID: 85327
FusionGDB2.0 ID: 85327
HgeneTgene
Gene symbol

SOX5

GUCY2C

Gene ID

6660

2984

Gene nameSRY-box transcription factor 5guanylate cyclase 2C
SynonymsL-SOX5|L-SOX5B|L-SOX5F|LAMSHFDIAR6|GC-C|GUC2C|MECIL|MUCIL|STAR
Cytomap

12p12.1

12p12.3

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor SOX-5SRY (sex determining region Y)-box 5SRY-box 5heat-stable enterotoxin receptorSTA receptorguanylyl cyclase Cintestinal guanylate cyclase
Modification date2020031320200313
UniProtAcc.

P25092

Ensembl transtripts involved in fusion geneENST idsENST00000451604, ENST00000537393, 
ENST00000541536, ENST00000545921, 
ENST00000546136, ENST00000309359, 
ENST00000381381, ENST00000396007, 
ENST00000441133, ENST00000536850, 
ENST00000541847, 
ENST00000261170, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score19 X 15 X 10=28501 X 1 X 1=1
# samples 191
** MAII scorelog2(19/2850*10)=-3.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context (manual curation of fusion genes in FusionPDB)

PubMed: SOX5 [Title/Abstract] AND GUCY2C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SOX5(23818378)-GUCY2C(14766225), # samples:1
Anticipated loss of major functional domain due to fusion event.SOX5-GUCY2C 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.
SOX5-GUCY2C 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.
SOX5-GUCY2C seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
SOX5-GUCY2C seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
SOX5-GUCY2C seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
SOX5-GUCY2C seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
SOX5-GUCY2C seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneSOX5

GO:0032332

positive regulation of chondrocyte differentiation

21401405

HgeneSOX5

GO:0061036

positive regulation of cartilage development

21401405

HgeneSOX5

GO:0071560

cellular response to transforming growth factor beta stimulus

21401405

HgeneSOX5

GO:2000741

positive regulation of mesenchymal stem cell differentiation

21401405


check buttonFusion gene breakpoints across SOX5 (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 GUCY2C (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
ChimerDB4SARCTCGA-DX-AB2Q-01ASOX5chr12

23818378

-GUCY2Cchr12

14766225

-


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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)
ENST00000381381SOX5chr1223818378-ENST00000261170GUCY2Cchr1214766225-16831033481073341
ENST00000309359SOX5chr1223818378-ENST00000261170GUCY2Cchr1214766225-16831033481073341

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
ENST00000381381ENST00000261170SOX5chr1223818378-GUCY2Cchr1214766225-0.0131948480.9868052
ENST00000309359ENST00000261170SOX5chr1223818378-GUCY2Cchr1214766225-0.0131948480.9868052

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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

>85327_85327_1_SOX5-GUCY2C_SOX5_chr12_23818378_ENST00000309359_GUCY2C_chr12_14766225_ENST00000261170_length(amino acids)=341AA_BP=
METIIGGCCDKGKLCFSSMLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPNKPHSEEFQPVSL
LTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQSGESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEET
PSIEKLLSKDWKDKLLAMGSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMELAKQQQEQIARQQ

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

>85327_85327_2_SOX5-GUCY2C_SOX5_chr12_23818378_ENST00000381381_GUCY2C_chr12_14766225_ENST00000261170_length(amino acids)=341AA_BP=
METIIGGCCDKGKLCFSSMLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPNKPHSEEFQPVSL
LTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQSGESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEET
PSIEKLLSKDWKDKLLAMGSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMELAKQQQEQIARQQ

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

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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/chr12:23818378/chr12:14766225)
- 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
.GUCY2C

P25092

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: Receptor for the E.coli heat-stable enterotoxin (E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GC-C). Also activated by the endogenous peptides guanylin and uroguanylin.

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
HgeneSOX5chr12:23818378chr12:14766225ENST00000309359-715193_274297.3333333333333751.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000381381-713193_274297.3333333333333643.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000451604-715193_274310.3333333333333764.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000541536-612193_274297.3333333333333643.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000545921-715193_274300.3333333333333754.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000546136-614193_274297.3333333333333751.0Coiled coilOntology_term=ECO:0000255

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSOX5chr12:23818378chr12:14766225ENST00000309359-715448_515297.3333333333333751.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000381381-713448_515297.3333333333333643.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000396007-17193_2740378.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000396007-17448_5150378.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000451604-715448_515310.3333333333333764.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000541536-612448_515297.3333333333333643.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000545921-715448_515300.3333333333333754.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000546136-614448_515297.3333333333333751.0Coiled coilOntology_term=ECO:0000255
HgeneSOX5chr12:23818378chr12:14766225ENST00000309359-715556_624297.3333333333333751.0DNA bindingHMG box
HgeneSOX5chr12:23818378chr12:14766225ENST00000381381-713556_624297.3333333333333643.0DNA bindingHMG box
HgeneSOX5chr12:23818378chr12:14766225ENST00000396007-17556_6240378.0DNA bindingHMG box
HgeneSOX5chr12:23818378chr12:14766225ENST00000451604-715556_624310.3333333333333764.0DNA bindingHMG box
HgeneSOX5chr12:23818378chr12:14766225ENST00000541536-612556_624297.3333333333333643.0DNA bindingHMG box
HgeneSOX5chr12:23818378chr12:14766225ENST00000545921-715556_624300.3333333333333754.0DNA bindingHMG box
HgeneSOX5chr12:23818378chr12:14766225ENST00000546136-614556_624297.3333333333333751.0DNA bindingHMG box
TgeneGUCY2Cchr12:23818378chr12:14766225ENST000002611702527489_7491015.66666666666661074.0DomainProtein kinase
TgeneGUCY2Cchr12:23818378chr12:14766225ENST000002611702527824_9541015.66666666666661074.0DomainGuanylate cyclase
TgeneGUCY2Cchr12:23818378chr12:14766225ENST00000261170252724_4301015.66666666666661074.0Topological domainExtracellular
TgeneGUCY2Cchr12:23818378chr12:14766225ENST000002611702527455_10731015.66666666666661074.0Topological domainCytoplasmic
TgeneGUCY2Cchr12:23818378chr12:14766225ENST000002611702527431_4541015.66666666666661074.0TransmembraneHelical


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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
SOX5
GUCY2C


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 SOX5-GUCY2C


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 SOX5-GUCY2C


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