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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:ACTB-FN1 (FusionGDB2 ID:HG60TG2335)

Fusion Gene Summary for ACTB-FN1

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTB-FN1
Fusion gene ID: hg60tg2335
HgeneTgene
Gene symbol

ACTB

FN1

Gene ID

60

2335

Gene nameactin betafibronectin 1
SynonymsBRWS1|PS1TP5BP1CIG|ED-B|FINC|FN|FNZ|GFND|GFND2|LETS|MSF|SMDCF
Cytomap('ACTB')('FN1')

7p22.1

2q35

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actinfibronectincold-insoluble globulinepididymis secretory sperm binding proteinmigration-stimulating factor
Modification date2020032720200329
UniProtAcc

P60709

P02751

Ensembl transtripts involved in fusion geneENST00000331789, ENST00000464611, 
ENST00000331789, ENST00000464611, 
Fusion gene scores* DoF score68 X 54 X 18=6609635 X 39 X 9=12285
# samples 8342
** MAII scorelog2(83/66096*10)=-6.31530781862183
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: ACTB [Title/Abstract] AND FN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACTB(5567373)-FN1(216293751), # 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
HgeneACTB

GO:0098974

postsynaptic actin cytoskeleton organization

18341992

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
* 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


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Fusion Gene ORF analysis for ACTB-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

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 ACTB-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)


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Fusion Protein Features for ACTB-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/:5567373/:216293751)
- 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
ACTB

P60709

FN1

P02751

FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). {ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29925947}.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


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Fusion Gene Sequence for ACTB-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.

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Fusion Gene PPI Analysis for ACTB-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


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Related Drugs for ACTB-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

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Related Diseases for ACTB-FN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTBC1855722Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation6CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACTBC1846331Juvenile-onset dystonia2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneACTBC1853623Fryns-Aftimos Syndrome2GENOMICS_ENGLAND
HgeneACTBC2239176Liver carcinoma2CTD_human
HgeneACTBC0003129Anoxemia1CTD_human
HgeneACTBC0003130Anoxia1CTD_human
HgeneACTBC0005586Bipolar Disorder1PSYGENET
HgeneACTBC0005818Blood Platelet Disorders1GENOMICS_ENGLAND
HgeneACTBC0007097Carcinoma1CTD_human
HgeneACTBC0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTBC0013393Dysostoses1CTD_human
HgeneACTBC0013421Dystonia1CTD_human
HgeneACTBC0014859Esophageal Neoplasms1CTD_human
HgeneACTBC0018784Sensorineural Hearing Loss (disorder)1CTD_human
HgeneACTBC0019193Hepatitis, Toxic1CTD_human
HgeneACTBC0024121Lung Neoplasms1CTD_human
HgeneACTBC0024667Animal Mammary Neoplasms1CTD_human
HgeneACTBC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTBC0027626Neoplasm Invasiveness1CTD_human
HgeneACTBC0029408Degenerative polyarthritis1CTD_human
HgeneACTBC0036341Schizophrenia1PSYGENET
HgeneACTBC0086743Osteoarthrosis Deformans1CTD_human
HgeneACTBC0151744Myocardial Ischemia1CTD_human
HgeneACTBC0205696Anaplastic carcinoma1CTD_human
HgeneACTBC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneACTBC0205698Undifferentiated carcinoma1CTD_human
HgeneACTBC0205699Carcinomatosis1CTD_human
HgeneACTBC0242184Hypoxia1CTD_human
HgeneACTBC0242379Malignant neoplasm of lung1CTD_human
HgeneACTBC0263579Pigmented hairy epidermal nevus1ORPHANET
HgeneACTBC0265541Cranioschisis1CTD_human
HgeneACTBC0272183Qualitative abnormality of granulocyte1GENOMICS_ENGLAND
HgeneACTBC0376634Craniofacial Abnormalities1CTD_human
HgeneACTBC0393588Dystonia, Paroxysmal1CTD_human
HgeneACTBC0393610Dystonia, Diurnal1CTD_human
HgeneACTBC0497552Congenital neurologic anomalies1CTD_human
HgeneACTBC0546837Malignant neoplasm of esophagus1CTD_human
HgeneACTBC0700292Hypoxemia1CTD_human
HgeneACTBC0751093Dystonia, Limb1CTD_human
HgeneACTBC0860207Drug-Induced Liver Disease1CTD_human
HgeneACTBC1257925Mammary Carcinoma, Animal1CTD_human
HgeneACTBC1262760Hepatitis, Drug-Induced1CTD_human
HgeneACTBC1691779Sensory hearing loss1CTD_human
HgeneACTBC1858042Becker Nevus Syndrome1ORPHANET
HgeneACTBC3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneACTBC4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneACTBC4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneACTBC4554007Uveoretinal Coloboma1CTD_human
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