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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:FCGR2A-SPTA1 (FusionGDB2 ID:29874)

Fusion Gene Summary for FCGR2A-SPTA1

check button Fusion gene summary
Fusion gene informationFusion gene name: FCGR2A-SPTA1
Fusion gene ID: 29874
HgeneTgene
Gene symbol

FCGR2A

SPTA1

Gene ID

2212

6708

Gene nameFc fragment of IgG receptor IIaspectrin alpha, erythrocytic 1
SynonymsCD32|CD32A|CDw32|FCG2|FCGR2|FCGR2A1|FcGR|IGFR2EL2|HPP|HS3|SPH3|SPTA
Cytomap

1q23.3

1q23.1

Type of geneprotein-codingprotein-coding
Descriptionlow affinity immunoglobulin gamma Fc region receptor II-aFc fragment of IgG, low affinity IIa, receptor (CD32)Fc gamma receptor RIIa3Immunoglobulin G Fc receptor IIfc-gamma-RIIafcRII-aigG Fc receptor II-aspectrin alpha chain, erythrocytic 1alpha-I spectrinelliptocytosis 2erythroid alpha-spectrinspectrin alpha chain, erythrocyte
Modification date2020031320200313
UniProtAcc

P12318

.
Ensembl transtripts involved in fusion geneENST00000367972, ENST00000271450, 
ENST00000486608, 		ENST00000368147, 
ENST00000485680, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 3=48
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FCGR2A [Title/Abstract] AND SPTA1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFCGR2A(161476381)-SPTA1(158632735), # samples:3
Anticipated loss of major functional domain due to fusion event.FCGR2A-SPTA1 seems lost the major protein functional domain in Tgene 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

check buttonFusion gene breakpoints across FCGR2A (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 SPTA1 (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
ChimerDB4BRCATCGA-BH-A1EV-01AFCGR2Achr1

161476381

+SPTA1chr1

158632735

-
ChimerDB4BRCATCGA-BH-A1EV-01AFCGR2Achr1

161476381

+SPTA1chr1

158632735

-
ChimerDB4BRCATCGA-BH-A1EV-01AFCGR2Achr1

161476381

-SPTA1chr1

158632735

-


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Fusion Gene ORF analysis for FCGR2A-SPTA1

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
Frame-shiftENST00000367972ENST00000368147FCGR2Achr1

161476381

+SPTA1chr1

158632735

-
5CDS-intronENST00000367972ENST00000485680FCGR2Achr1

161476381

+SPTA1chr1

158632735

-
Frame-shiftENST00000271450ENST00000368147FCGR2Achr1

161476381

+SPTA1chr1

158632735

-
5CDS-intronENST00000271450ENST00000485680FCGR2Achr1

161476381

+SPTA1chr1

158632735

-
intron-3CDSENST00000486608ENST00000368147FCGR2Achr1

161476381

+SPTA1chr1

158632735

-
intron-intronENST00000486608ENST00000485680FCGR2Achr1

161476381

+SPTA1chr1

158632735

-

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 FCGR2A-SPTA1


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 FCGR2A-SPTA1


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
FCGR2A

P12318

.
FUNCTION: Binds to the Fc region of immunoglobulins gamma. Low affinity receptor. By binding to IgG it initiates cellular responses against pathogens and soluble antigens. Promotes phagocytosis of opsonized antigens. {ECO:0000269|PubMed:19011614}.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.

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 FCGR2A-SPTA1


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 FCGR2A-SPTA1


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 FCGR2A-SPTA1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneFCGR2AP12318DB00002CetuximabBiotechApproved
HgeneFCGR2AP12318DB00002CetuximabBiotechApproved
HgeneFCGR2AP12318DB00002CetuximabBiotechApproved
HgeneFCGR2AP12318DB00002CetuximabBiotechApproved
HgeneFCGR2AP12318DB00002CetuximabBiotechApproved
HgeneFCGR2AP12318DB00054AbciximabBiotechApproved
HgeneFCGR2AP12318DB00054AbciximabBiotechApproved
HgeneFCGR2AP12318DB00054AbciximabBiotechApproved
HgeneFCGR2AP12318DB00054AbciximabBiotechApproved
HgeneFCGR2AP12318DB00054AbciximabBiotechApproved
HgeneFCGR2AP12318DB00005EtanerceptLigandBiotechApproved|Investigational
HgeneFCGR2AP12318DB00005EtanerceptLigandBiotechApproved|Investigational
HgeneFCGR2AP12318DB00005EtanerceptLigandBiotechApproved|Investigational
HgeneFCGR2AP12318DB00005EtanerceptLigandBiotechApproved|Investigational
HgeneFCGR2AP12318DB00005EtanerceptLigandBiotechApproved|Investigational
HgeneFCGR2AP12318DB00028Human immunoglobulin GAntagonistBiotechApproved|Investigational
HgeneFCGR2AP12318DB00028Human immunoglobulin GAntagonistBiotechApproved|Investigational
HgeneFCGR2AP12318DB00028Human immunoglobulin GAntagonistBiotechApproved|Investigational
HgeneFCGR2AP12318DB00028Human immunoglobulin GAntagonistBiotechApproved|Investigational
HgeneFCGR2AP12318DB00028Human immunoglobulin GAntagonistBiotechApproved|Investigational
HgeneFCGR2AP12318DB00087AlemtuzumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00087AlemtuzumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00087AlemtuzumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00087AlemtuzumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00087AlemtuzumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00112BevacizumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00112BevacizumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00112BevacizumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00112BevacizumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB00112BevacizumabBiotechApproved|Investigational
HgeneFCGR2AP12318DB11767SarilumabUnknownBiotechApproved|Investigational
HgeneFCGR2AP12318DB11767SarilumabUnknownBiotechApproved|Investigational
HgeneFCGR2AP12318DB11767SarilumabUnknownBiotechApproved|Investigational
HgeneFCGR2AP12318DB11767SarilumabUnknownBiotechApproved|Investigational
HgeneFCGR2AP12318DB11767SarilumabUnknownBiotechApproved|Investigational
HgeneFCGR2AP12318DB06607CatumaxomabAgonistBiotechApproved|Investigational|Withdrawn
HgeneFCGR2AP12318DB06607CatumaxomabAgonistBiotechApproved|Investigational|Withdrawn
HgeneFCGR2AP12318DB06607CatumaxomabAgonistBiotechApproved|Investigational|Withdrawn
HgeneFCGR2AP12318DB06607CatumaxomabAgonistBiotechApproved|Investigational|Withdrawn
HgeneFCGR2AP12318DB06607CatumaxomabAgonistBiotechApproved|Investigational|Withdrawn

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Related Diseases for FCGR2A-SPTA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFCGR2AC0003873Rheumatoid Arthritis2CTD_human
HgeneFCGR2AC0009324Ulcerative Colitis2CTD_human
HgeneFCGR2AC0026691Mucocutaneous Lymph Node Syndrome2CTD_human
HgeneFCGR2AC0024141Lupus Erythematosus, Systemic1CTD_human
HgeneFCGR2AC0040034Thrombocytopenia1CTD_human
HgeneFCGR2AC0040053Thrombosis1CTD_human
HgeneFCGR2AC0086981Sicca Syndrome1CTD_human
HgeneFCGR2AC0087086Thrombus1CTD_human
HgeneFCGR2AC0242380Libman-Sacks Disease1CTD_human
HgeneFCGR2AC1527336Sjogren's Syndrome1CTD_human
TgeneSPTA1C1851741ELLIPTOCYTOSIS 2 (disorder)13CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneSPTA1C0520739Hereditary pyropoikilocytosis3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneSPTA1C2678338SPHEROCYTOSIS, TYPE 3 (disorder)2CTD_human;GENOMICS_ENGLAND
TgeneSPTA1C0013902Elliptocytosis, Hereditary1ORPHANET
TgeneSPTA1C0037889Hereditary spherocytosis1ORPHANET
TgeneSPTA1C0221409Anemia, hereditary spherocytic hemolytic1ORPHANET