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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:FCHSD2-GUCY1A2 (FusionGDB2 ID:29913)

Fusion Gene Summary for FCHSD2-GUCY1A2

check button Fusion gene summary
Fusion gene informationFusion gene name: FCHSD2-GUCY1A2
Fusion gene ID: 29913
HgeneTgene
Gene symbol

FCHSD2

GUCY1A2

Gene ID

9873

2977

Gene nameFCH and double SH3 domains 2guanylate cyclase 1 soluble subunit alpha 2
SynonymsNWK|NWK1|SH3MD3GC-SA2|GUC1A2
Cytomap

11q13.4

11q22.3

Type of geneprotein-codingprotein-coding
DescriptionF-BAR and double SH3 domains protein 2FCH and double SH3 domains protein 2SH3 multiple domains 3SH3 multiple domains protein 3caromnervous wreck homologprotein nervous wreck 1guanylate cyclase soluble subunit alpha-2GCS-alpha-2guanylate cyclase 1, soluble, alpha 2
Modification date2020031320200313
UniProtAcc

O94868

P33402

Ensembl transtripts involved in fusion geneENST00000311172, ENST00000409314, 
ENST00000409418, ENST00000458644, 
ENST00000409853, ENST00000409263, 
ENST00000526355, ENST00000282249, 
ENST00000347596, 
Fusion gene scores* DoF score43 X 26 X 16=178888 X 7 X 4=224
# samples 599
** MAII scorelog2(59/17888*10)=-4.92213332859399
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/224*10)=-1.31550182572793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FCHSD2 [Title/Abstract] AND GUCY1A2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFCHSD2(72851076)-GUCY1A2(106856857), # samples:3
Anticipated loss of major functional domain due to fusion event.FCHSD2-GUCY1A2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
FCHSD2-GUCY1A2 seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
FCHSD2-GUCY1A2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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

check buttonFusion gene breakpoints across FCHSD2 (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 GUCY1A2 (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
ChimerDB4HNSCTCGA-CN-5367-01AFCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
ChimerDB4HNSCTCGA-CN-5367FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
ChimerDB4HNSCTCGA-CN-5367FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
ChimerDB4HNSCTCGA-CN-5367FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
ChimerDB4HNSCTCGA-CN-5367FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
ChimerDB4HNSCTCGA-CN-5367-01AFCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-


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Fusion Gene ORF analysis for FCHSD2-GUCY1A2

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-3CDSENST00000311172ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000311172ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000311172ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409314ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409314ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409314ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409418ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409418ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409418ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000458644ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000458644ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000458644ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000409853ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000409853ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000409853ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000409263ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000409263ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000409263ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000311172ENST00000526355FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000311172ENST00000282249FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000311172ENST00000347596FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409314ENST00000526355FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409314ENST00000282249FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409314ENST00000347596FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409418ENST00000526355FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409418ENST00000282249FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
Frame-shiftENST00000409418ENST00000347596FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000458644ENST00000526355FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000458644ENST00000282249FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000458644ENST00000347596FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000409853ENST00000526355FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000409853ENST00000282249FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
5UTR-3CDSENST00000409853ENST00000347596FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000409263ENST00000526355FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000409263ENST00000282249FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
intron-3CDSENST00000409263ENST00000347596FCHSD2chr11

72851075

-GUCY1A2chr11

106856857

-
intron-intronENST00000311172ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
intron-intronENST00000311172ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
intron-intronENST00000311172ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5CDS-intronENST00000409314ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5CDS-intronENST00000409314ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5CDS-intronENST00000409314ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5CDS-intronENST00000409418ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5CDS-intronENST00000409418ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5CDS-intronENST00000409418ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5UTR-intronENST00000458644ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5UTR-intronENST00000458644ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5UTR-intronENST00000458644ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5UTR-intronENST00000409853ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5UTR-intronENST00000409853ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
5UTR-intronENST00000409853ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
intron-intronENST00000409263ENST00000526355FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
intron-intronENST00000409263ENST00000282249FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-
intron-intronENST00000409263ENST00000347596FCHSD2chr11

72851076

-GUCY1A2chr11

106944487

-

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 FCHSD2-GUCY1A2


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 FCHSD2-GUCY1A2


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
FCHSD2

O94868

GUCY1A2

P33402

FUNCTION: Adapter protein that plays a role in endocytosis via clathrin-coated pits. Contributes to the internalization of cell surface receptors, such as integrin ITGB1 and transferrin receptor (PubMed:29887380). Promotes endocytosis of EGFR in cancer cells, and thereby contributes to the down-regulation of EGFR signaling (PubMed:30249660). Recruited to clathrin-coated pits during a mid-to-late stage of assembly, where it is required for normal progress from U-shaped intermediate stage pits to terminal, omega-shaped pits (PubMed:29887380). Binds to membranes enriched in phosphatidylinositol 3,4-bisphosphate or phosphatidylinositol 3,4,5-trisphosphate (PubMed:29887380). When bound to membranes, promotes actin polymerization via its interaction with WAS and/or WASL which leads to the activation of the Arp2/3 complex. Does not promote actin polymerisation in the absence of membranes (PubMed:29887380). {ECO:0000269|PubMed:29887380, ECO:0000269|PubMed:30249660}.FUNCTION: Has guanylyl cyclase on binding to the beta-1 subunit.; FUNCTION: Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits.

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 FCHSD2-GUCY1A2


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 FCHSD2-GUCY1A2


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 FCHSD2-GUCY1A2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGUCY1A2P33402DB00435Nitric OxideInducerSmall moleculeApproved
TgeneGUCY1A2P33402DB00435Nitric OxideInducerSmall moleculeApproved
TgeneGUCY1A2P33402DB00435Nitric OxideInducerSmall moleculeApproved
TgeneGUCY1A2P33402DB01020Isosorbide mononitrateActivatorSmall moleculeApproved
TgeneGUCY1A2P33402DB01020Isosorbide mononitrateActivatorSmall moleculeApproved
TgeneGUCY1A2P33402DB01020Isosorbide mononitrateActivatorSmall moleculeApproved
TgeneGUCY1A2P33402DB08931RiociguatAgonist|StimulatorSmall moleculeApproved
TgeneGUCY1A2P33402DB08931RiociguatAgonist|StimulatorSmall moleculeApproved
TgeneGUCY1A2P33402DB08931RiociguatAgonist|StimulatorSmall moleculeApproved
TgeneGUCY1A2P33402DB09241Methylene blueInhibitorSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB09241Methylene blueInhibitorSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB09241Methylene blueInhibitorSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB09282MolsidomineAgonistSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB09282MolsidomineAgonistSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB09282MolsidomineAgonistSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB13170PlecanatideAgonistSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB13170PlecanatideAgonistSmall moleculeApproved|Investigational
TgeneGUCY1A2P33402DB13170PlecanatideAgonistSmall moleculeApproved|Investigational

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Related Diseases for FCHSD2-GUCY1A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFCHSD2C0087031Juvenile-Onset Still Disease1CTD_human
HgeneFCHSD2C3495559Juvenile arthritis1CTD_human
HgeneFCHSD2C3714758Juvenile psoriatic arthritis1CTD_human
HgeneFCHSD2C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneFCHSD2C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
TgeneGUCY1A2C0009402Colorectal Carcinoma2CTD_human;UNIPROT
TgeneGUCY1A2C0009404Colorectal Neoplasms2CTD_human
TgeneGUCY1A2C0006142Malignant neoplasm of breast1CTD_human
TgeneGUCY1A2C0678222Breast Carcinoma1CTD_human
TgeneGUCY1A2C1257931Mammary Neoplasms, Human1CTD_human
TgeneGUCY1A2C1458155Mammary Neoplasms1CTD_human
TgeneGUCY1A2C4704874Mammary Carcinoma, Human1CTD_human