Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:SH3GL1-FN1 (FusionGDB2 ID:HG6455TG2335)

Fusion Gene Summary for SH3GL1-FN1

check button Fusion gene summary
Fusion gene informationFusion gene name: SH3GL1-FN1
Fusion gene ID: hg6455tg2335
HgeneTgene
Gene symbol

SH3GL1

FN1

Gene ID

6455

2335

Gene nameSH3 domain containing GRB2 like 1, endophilin A2fibronectin 1
SynonymsCNSA1|EEN|SH3D2B|SH3P8CIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCF
Cytomap('SH3GL1')('FN1')

19p13.3

2q35

Type of geneprotein-codingprotein-coding
Descriptionendophilin-A2EEN fusion partner of MLLSH3 domain protein 2BSH3 domain-containing GRB2-like protein 1SH3-containing Grb-2-like 1 proteinSH3-domain GRB2-like 1endophilin-2extra 11-19 leukemia fusionextra eleven-nineteen leukemia fusion gene proteinfibronectincold-insoluble globulinepididymis secretory sperm binding proteinmigration-stimulating factor
Modification date2020031320200329
UniProtAcc

Q99961

P02751

Ensembl transtripts involved in fusion geneENST00000417295, ENST00000269886, 
ENST00000598564, 
Fusion gene scores* DoF score18 X 9 X 12=194435 X 39 X 9=12285
# samples 2242
** MAII scorelog2(22/1944*10)=-3.14345279008112
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(42/12285*10)=-4.8703647195834
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SH3GL1 [Title/Abstract] AND FN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSH3GL1(4361313)-FN1(216300790), # samples:1
Anticipated loss of major functional domain due to fusion event.SH3GL1-FN1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
SH3GL1-FN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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
TgeneFN1

GO:0001932

regulation of protein phosphorylation

11792823

TgeneFN1

GO:0008284

positive regulation of cell proliferation

25834989

TgeneFN1

GO:0010628

positive regulation of gene expression

25834989

TgeneFN1

GO:0018149

peptide cross-linking

3997886

TgeneFN1

GO:0034446

substrate adhesion-dependent cell spreading

16236823

TgeneFN1

GO:0035987

endodermal cell differentiation

23154389

TgeneFN1

GO:0048146

positive regulation of fibroblast proliferation

25834989

TgeneFN1

GO:0051702

interaction with symbiont

12167537|12421310|19429745

TgeneFN1

GO:0070372

regulation of ERK1 and ERK2 cascade

11792823

TgeneFN1

GO:1901166

neural crest cell migration involved in autonomic nervous system development

26571399

TgeneFN1

GO:1904237

positive regulation of substrate-dependent cell migration, cell attachment to substrate

25834989

TgeneFN1

GO:2001202

negative regulation of transforming growth factor-beta secretion

25834989



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
ChimerDB4KICHTCGA-KN-8427-01ASH3GL1chr19

4361313

-FN1chr2

216300790

-


Top

Fusion Gene ORF analysis for SH3GL1-FN1

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
5CDS-5UTRENST00000417295ENST00000345488SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000346544SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000354785SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000356005SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000357009SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000359671SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000432072SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000443816SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-5UTRENST00000417295ENST00000446046SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-intronENST00000417295ENST00000426059SH3GL1chr19

4361313

-FN1chr2

216300790

-
5CDS-intronENST00000417295ENST00000490833SH3GL1chr19

4361313

-FN1chr2

216300790

-
Frame-shiftENST00000417295ENST00000323926SH3GL1chr19

4361313

-FN1chr2

216300790

-
Frame-shiftENST00000417295ENST00000336916SH3GL1chr19

4361313

-FN1chr2

216300790

-
Frame-shiftENST00000417295ENST00000357867SH3GL1chr19

4361313

-FN1chr2

216300790

-
Frame-shiftENST00000417295ENST00000421182SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000269886ENST00000323926SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000269886ENST00000336916SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000269886ENST00000357867SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000269886ENST00000421182SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000598564ENST00000323926SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000598564ENST00000336916SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000598564ENST00000357867SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-3CDSENST00000598564ENST00000421182SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000345488SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000346544SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000354785SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000356005SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000357009SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000359671SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000432072SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000443816SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000269886ENST00000446046SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000345488SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000346544SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000354785SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000356005SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000357009SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000359671SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000432072SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000443816SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-5UTRENST00000598564ENST00000446046SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-intronENST00000269886ENST00000426059SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-intronENST00000269886ENST00000490833SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-intronENST00000598564ENST00000426059SH3GL1chr19

4361313

-FN1chr2

216300790

-
intron-intronENST00000598564ENST00000490833SH3GL1chr19

4361313

-FN1chr2

216300790

-

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

Top

Fusion Genomic Features for SH3GL1-FN1


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)


Top

Fusion Protein Features for SH3GL1-FN1


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/:4361313/:216300790)
- 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
SH3GL1

Q99961

FN1

P02751

FUNCTION: Implicated in endocytosis. May recruit other proteins to membranes with high curvature (By similarity). {ECO:0000250}.FUNCTION: Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin (PubMed:3024962, PubMed:3900070, PubMed:3593230, PubMed:7989369). Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape (PubMed:3024962, PubMed:3900070, PubMed:3593230, PubMed:7989369). Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization (By similarity). Participates in the regulation of type I collagen deposition by osteoblasts (By similarity). Acts as a ligand for the LILRB4 receptor, inhibiting FCGR1A/CD64-mediated monocyte activation (PubMed:34089617). {ECO:0000250|UniProtKB:P11276, ECO:0000269|PubMed:3024962, ECO:0000269|PubMed:34089617, ECO:0000269|PubMed:3593230, ECO:0000269|PubMed:3900070, ECO:0000269|PubMed:7989369}.; FUNCTION: [Anastellin]: Binds fibronectin and induces fibril formation. This fibronectin polymer, named superfibronectin, exhibits enhanced adhesive properties. Both anastellin and superfibronectin inhibit tumor growth, angiogenesis and metastasis. Anastellin activates p38 MAPK and inhibits lysophospholipid signaling. {ECO:0000269|PubMed:11209058, ECO:0000269|PubMed:15665290, ECO:0000269|PubMed:19379667, ECO:0000269|PubMed:8114919}.

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


Top

Fusion Gene Sequence for SH3GL1-FN1


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.

Top

Fusion Gene PPI Analysis for SH3GL1-FN1


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


Top

Related Drugs for SH3GL1-FN1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFN1P02751DB08888OcriplasminCleavageBiotechApproved
TgeneFN1P02751DB08888OcriplasminCleavageBiotechApproved
TgeneFN1P02751DB14548Zinc sulfate, unspecified formLigand|ModulatorSmall moleculeApproved|Experimental
TgeneFN1P02751DB14548Zinc sulfate, unspecified formLigand|ModulatorSmall moleculeApproved|Experimental
TgeneFN1P02751DB01593ZincSmall moleculeApproved|Investigational
TgeneFN1P02751DB01593ZincSmall moleculeApproved|Investigational
TgeneFN1P02751DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneFN1P02751DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneFN1P02751DB14533Zinc chlorideLigand|ModulatorSmall moleculeApproved|Investigational
TgeneFN1P02751DB14533Zinc chlorideLigand|ModulatorSmall moleculeApproved|Investigational

Top

Related Diseases for SH3GL1-FN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0020538Hypertensive disease2CTD_human
TgeneC0432221Spondylometaphyseal dysplasia, 'corner fracture' type2GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0000786Spontaneous abortion1CTD_human
TgeneC0000822Abortion, Tubal1CTD_human
TgeneC0003504Aortic Valve Insufficiency1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
TgeneC0007097Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0010346Crohn Disease1CTD_human
TgeneC0011849Diabetes Mellitus1CTD_human
TgeneC0011881Diabetic Nephropathy1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0017667Nodular glomerulosclerosis1CTD_human
TgeneC0017668Focal glomerulosclerosis1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0041956Ureteral obstruction1CTD_human
TgeneC0085762Alcohol abuse1PSYGENET
TgeneC0086432Hyalinosis, Segmental Glomerular1CTD_human
TgeneC0149721Left Ventricular Hypertrophy1CTD_human
TgeneC0156147Crohn's disease of large bowel1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0267380Crohn's disease of the ileum1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0678202Regional enteritis1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0949272IIeocolitis1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1866075GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2 (disorder)1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3830362Early Pregnancy Loss1CTD_human
TgeneC3888104Glomerulopathy with fibronectin deposits1CTD_human;ORPHANET
TgeneC4552766Miscarriage1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human