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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:SRP54-MAEA (FusionGDB2 ID:86447)

Fusion Gene Summary for SRP54-MAEA

check button Fusion gene summary
Fusion gene informationFusion gene name: SRP54-MAEA
Fusion gene ID: 86447
HgeneTgene
Gene symbol

SRP54

MAEA

Gene ID

6729

10296

Gene namesignal recognition particle 54macrophage erythroblast attacher, E3 ubiquitin ligase
SynonymsSCN8EMLP|EMP|GID9|HLC-10|P44EMLP|PIG5
Cytomap

14q13.2

4p16.3

Type of geneprotein-codingprotein-coding
Descriptionsignal recognition particle 54 kDa proteinsignal recognition particle 54kDsignal recognition particle 54kDaE3 ubiquitin-protein transferase MAEAGID complex subunit 9, FYV10 homologcell proliferation-inducing gene 5 proteinerythroblast macrophage proteinhuman lung cancer oncogene 10 proteinlung cancer-related protein 10macrophage erythroblast attacher
Modification date2020031320200314
UniProtAcc.

Q7L5Y9

Ensembl transtripts involved in fusion geneENST00000216774, ENST00000546080, 
ENST00000555557, ENST00000556994, 
ENST00000555535, 		ENST00000264750, 
ENST00000303400, ENST00000452175, 
ENST00000505177, ENST00000510794, 
ENST00000514708, ENST00000505839, 
ENST00000512289, 
Fusion gene scores* DoF score6 X 5 X 5=1508 X 9 X 5=360
# samples 611
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/360*10)=-1.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SRP54 [Title/Abstract] AND MAEA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSRP54(35452421)-MAEA(1305766), # 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
HgeneSRP54

GO:0042493

response to drug

18089836

TgeneMAEA

GO:0007155

cell adhesion

9763581

TgeneMAEA

GO:0033033

negative regulation of myeloid cell apoptotic process

9763581


check buttonFusion gene breakpoints across SRP54 (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 MAEA (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
ChimerDB4STADTCGA-IN-A6RSSRP54chr14

35452421

+MAEAchr4

1305766

+


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Fusion Gene ORF analysis for SRP54-MAEA

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
5UTR-3CDSENST00000216774ENST00000264750SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000216774ENST00000303400SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000216774ENST00000452175SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000216774ENST00000505177SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000216774ENST00000510794SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000216774ENST00000514708SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000546080ENST00000264750SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000546080ENST00000303400SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000546080ENST00000452175SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000546080ENST00000505177SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000546080ENST00000510794SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000546080ENST00000514708SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000555557ENST00000264750SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000555557ENST00000303400SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000555557ENST00000452175SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000555557ENST00000505177SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000555557ENST00000510794SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000555557ENST00000514708SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000556994ENST00000264750SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000556994ENST00000303400SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000556994ENST00000452175SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000556994ENST00000505177SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000556994ENST00000510794SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-3CDSENST00000556994ENST00000514708SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-5UTRENST00000216774ENST00000505839SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-5UTRENST00000546080ENST00000505839SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-5UTRENST00000555557ENST00000505839SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-5UTRENST00000556994ENST00000505839SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-intronENST00000216774ENST00000512289SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-intronENST00000546080ENST00000512289SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-intronENST00000555557ENST00000512289SRP54chr14

35452421

+MAEAchr4

1305766

+
5UTR-intronENST00000556994ENST00000512289SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-3CDSENST00000555535ENST00000264750SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-3CDSENST00000555535ENST00000303400SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-3CDSENST00000555535ENST00000452175SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-3CDSENST00000555535ENST00000505177SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-3CDSENST00000555535ENST00000510794SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-3CDSENST00000555535ENST00000514708SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-5UTRENST00000555535ENST00000505839SRP54chr14

35452421

+MAEAchr4

1305766

+
intron-intronENST00000555535ENST00000512289SRP54chr14

35452421

+MAEAchr4

1305766

+

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 SRP54-MAEA


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)
SRP54chr1435452421+MAEAchr41305766+5.00E-141
SRP54chr1435452421+MAEAchr41305766+5.00E-141

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.
genomic feature of top 1%

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Fusion Protein Features for SRP54-MAEA


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/:35452421/:1305766)
- 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
.MAEA

Q7L5Y9

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex (PubMed:29911972). MAEA is required for normal cell proliferation (PubMed:29911972). The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1 (PubMed:29911972). Plays a role in erythroblast enucleation during erythrocyte maturation and in the development of mature macrophages (By similarity). Mediates the attachment of erythroid cell to mature macrophages; this MAEA-mediated contact inhibits erythroid cell apoptosis (PubMed:9763581). Participates in erythroblastic island formation, which is the functional unit of definitive erythropoiesis. Associates with F-actin to regulate actin distribution in erythroblasts and macrophages (By similarity). May contribute to nuclear architecture and cells division events (Probable). {ECO:0000250|UniProtKB:Q4VC33, ECO:0000269|PubMed:29911972, ECO:0000269|PubMed:9763581, ECO:0000305|PubMed:16510120}.

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 SRP54-MAEA


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 SRP54-MAEA


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 SRP54-MAEA


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 SRP54-MAEA


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