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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:FGR-SQSTM1 (FusionGDB2 ID:30343)

Fusion Gene Summary for FGR-SQSTM1

check button Fusion gene summary
Fusion gene informationFusion gene name: FGR-SQSTM1
Fusion gene ID: 30343
HgeneTgene
Gene symbol

FGR

SQSTM1

Gene ID

2268

8878

Gene nameFGR proto-oncogene, Src family tyrosine kinasesequestosome 1
SynonymsSRC2|c-fgr|c-src2|p55-Fgr|p55c-fgr|p58-Fgr|p58c-fgrA170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B
Cytomap

1p35.3

5q35.3

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase FgrGardner-Rasheed feline sarcoma viral (v-fgr) oncogene homologc-fgr protooncogenec-src-2 proto-oncogenefeline Gardner-Rasheed sarcoma viral oncogene homologp55-c-fgr proteinproto-oncogene c-Fgrproto-oncogene tyrosine-protesequestosome-1EBI3-associated protein of 60 kDaEBI3-associated protein p60EBIAPautophagy receptor p62oxidative stress induced likephosphotyrosine independent ligand for the Lck SH2 domain p62phosphotyrosine-independent ligand for the Lck SH2 domain
Modification date2020032920200327
UniProtAcc

P09769

Q13501

Ensembl transtripts involved in fusion geneENST00000374004, ENST00000374005, 
ENST00000399173, ENST00000468038, 
ENST00000545953, 
ENST00000376929, 
ENST00000360718, ENST00000389805, 
ENST00000402874, ENST00000506690, 
ENST00000510187, 
Fusion gene scores* DoF score2 X 2 X 1=433 X 21 X 17=11781
# samples 238
** MAII scorelog2(2/4*10)=2.32192809488736log2(38/11781*10)=-4.95431877505661
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FGR [Title/Abstract] AND SQSTM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFGR(27942264)-SQSTM1(179252166), # 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
HgeneFGR

GO:0018108

peptidyl-tyrosine phosphorylation

7519620|8327512

HgeneFGR

GO:0046777

protein autophosphorylation

2181286|8327512

TgeneSQSTM1

GO:0006914

autophagy

20452972

TgeneSQSTM1

GO:0007032

endosome organization

27368102

TgeneSQSTM1

GO:0031397

negative regulation of protein ubiquitination

20452972

TgeneSQSTM1

GO:0061635

regulation of protein complex stability

25127057

TgeneSQSTM1

GO:1905719

protein localization to perinuclear region of cytoplasm

27368102


check buttonFusion gene breakpoints across FGR (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 SQSTM1 (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/ABG314620FGRchr1

27942264

-SQSTM1chr5

179252166

-


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Fusion Gene ORF analysis for FGR-SQSTM1

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-3CDSENST00000374004ENST00000376929FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-3CDSENST00000374005ENST00000376929FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-3CDSENST00000399173ENST00000376929FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-3CDSENST00000468038ENST00000376929FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-3CDSENST00000545953ENST00000376929FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374004ENST00000360718FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374004ENST00000389805FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374004ENST00000402874FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374004ENST00000506690FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374004ENST00000510187FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374005ENST00000360718FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374005ENST00000389805FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374005ENST00000402874FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374005ENST00000506690FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000374005ENST00000510187FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000399173ENST00000360718FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000399173ENST00000389805FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000399173ENST00000402874FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000399173ENST00000506690FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000399173ENST00000510187FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000468038ENST00000360718FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000468038ENST00000389805FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000468038ENST00000402874FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000468038ENST00000506690FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000468038ENST00000510187FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000545953ENST00000360718FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000545953ENST00000389805FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000545953ENST00000402874FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000545953ENST00000506690FGRchr1

27942264

-SQSTM1chr5

179252166

-
intron-intronENST00000545953ENST00000510187FGRchr1

27942264

-SQSTM1chr5

179252166

-

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 FGR-SQSTM1


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 FGR-SQSTM1


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/:27942264/:179252166)
- 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
FGR

P09769

SQSTM1

Q13501

FUNCTION: Non-receptor tyrosine-protein kinase that transmits signals from cell surface receptors devoid of kinase activity and contributes to the regulation of immune responses, including neutrophil, monocyte, macrophage and mast cell functions, cytoskeleton remodeling in response to extracellular stimuli, phagocytosis, cell adhesion and migration. Promotes mast cell degranulation, release of inflammatory cytokines and IgE-mediated anaphylaxis. Acts downstream of receptors that bind the Fc region of immunoglobulins, such as MS4A2/FCER1B, FCGR2A and/or FCGR2B. Acts downstream of ITGB1 and ITGB2, and regulates actin cytoskeleton reorganization, cell spreading and adhesion. Depending on the context, activates or inhibits cellular responses. Functions as negative regulator of ITGB2 signaling, phagocytosis and SYK activity in monocytes. Required for normal ITGB1 and ITGB2 signaling, normal cell spreading and adhesion in neutrophils and macrophages. Functions as positive regulator of cell migration and regulates cytoskeleton reorganization via RAC1 activation. Phosphorylates SYK (in vitro) and promotes SYK-dependent activation of AKT1 and MAP kinase signaling. Phosphorylates PLD2 in antigen-stimulated mast cells, leading to PLD2 activation and the production of the signaling molecules lysophosphatidic acid and diacylglycerol. Promotes activation of PIK3R1. Phosphorylates FASLG, and thereby regulates its ubiquitination and subsequent internalization. Phosphorylates ABL1. Promotes phosphorylation of CBL, CTTN, PIK3R1, PTK2/FAK1, PTK2B/PYK2 and VAV2. Phosphorylates HCLS1 that has already been phosphorylated by SYK, but not unphosphorylated HCLS1. Together with CLNK, it acts as a negative regulator of natural killer cell-activating receptors and inhibits interferon-gamma production (By similarity). {ECO:0000250|UniProtKB:P14234, ECO:0000269|PubMed:10739672, ECO:0000269|PubMed:17164290, ECO:0000269|PubMed:1737799, ECO:0000269|PubMed:7519620}.FUNCTION: Autophagy receptor required for selective macroautophagy (aggrephagy). Functions as a bridge between polyubiquitinated cargo and autophagosomes. Interacts directly with both the cargo to become degraded and an autophagy modifier of the MAP1 LC3 family (PubMed:16286508, PubMed:20168092, PubMed:24128730, PubMed:28404643, PubMed:22622177). Along with WDFY3, involved in the formation and autophagic degradation of cytoplasmic ubiquitin-containing inclusions (p62 bodies, ALIS/aggresome-like induced structures). Along with WDFY3, required to recruit ubiquitinated proteins to PML bodies in the nucleus (PubMed:24128730, PubMed:20168092). May regulate the activation of NFKB1 by TNF-alpha, nerve growth factor (NGF) and interleukin-1. May play a role in titin/TTN downstream signaling in muscle cells. May regulate signaling cascades through ubiquitination. Adapter that mediates the interaction between TRAF6 and CYLD (By similarity). May be involved in cell differentiation, apoptosis, immune response and regulation of K(+) channels. Involved in endosome organization by retaining vesicles in the perinuclear cloud: following ubiquitination by RNF26, attracts specific vesicle-associated adapters, forming a molecular bridge that restrains cognate vesicles in the perinuclear region and organizes the endosomal pathway for efficient cargo transport (PubMed:27368102). Promotes relocalization of 'Lys-63'-linked ubiquitinated STING1 to autophagosomes (PubMed:29496741). Acts as an activator of the NFE2L2/NRF2 pathway via interaction with KEAP1: interaction inactivates the BCR(KEAP1) complex, promoting nuclear accumulation of NFE2L2/NRF2 and subsequent expression of cytoprotective genes (PubMed:20452972, PubMed:28380357, PubMed:33393215). {ECO:0000250|UniProtKB:O08623, ECO:0000250|UniProtKB:Q64337, ECO:0000269|PubMed:10356400, ECO:0000269|PubMed:10747026, ECO:0000269|PubMed:11244088, ECO:0000269|PubMed:12471037, ECO:0000269|PubMed:15340068, ECO:0000269|PubMed:15802564, ECO:0000269|PubMed:15911346, ECO:0000269|PubMed:15953362, ECO:0000269|PubMed:16079148, ECO:0000269|PubMed:16286508, ECO:0000269|PubMed:19931284, ECO:0000269|PubMed:20168092, ECO:0000269|PubMed:20452972, ECO:0000269|PubMed:22622177, ECO:0000269|PubMed:24128730, ECO:0000269|PubMed:27368102, ECO:0000269|PubMed:28380357, ECO:0000269|PubMed:28404643, ECO:0000269|PubMed:29496741, ECO:0000269|PubMed:33393215}.

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 FGR-SQSTM1


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 FGR-SQSTM1


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 FGR-SQSTM1


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 FGR-SQSTM1


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