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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:CEP57L1-CPM (FusionGDB2 ID:HG285753TG1368)

Fusion Gene Summary for CEP57L1-CPM

check button Fusion gene summary
Fusion gene informationFusion gene name: CEP57L1-CPM
Fusion gene ID: hg285753tg1368
HgeneTgene
Gene symbol

CEP57L1

CPM

Gene ID

285753

1368

Gene namecentrosomal protein 57 like 1carboxypeptidase M
SynonymsC6orf182|bA487F23.2|cep57R-
Cytomap('CEP57L1')('CPM')

6q21

12q15

Type of geneprotein-codingprotein-coding
Descriptioncentrosomal protein CEP57L1centrosomal protein 57kDa-like 1centrosomal protein 57kDa-like protein 1centrosomal protein of 57 kDa-related proteincep57-related proteincarboxypeptidase Mrenal carboxypeptidaseurinary carboxypeptidase B
Modification date2020031320200313
UniProtAcc.

P14384

Ensembl transtripts involved in fusion geneENST00000521737, ENST00000336977, 
ENST00000368968, ENST00000368970, 
ENST00000407272, ENST00000517392, 
ENST00000519095, ENST00000520883, 
ENST00000521277, ENST00000521522, 
ENST00000523787, ENST00000359793, 
Fusion gene scores* DoF score2 X 2 X 2=848 X 16 X 10=7680
# samples 245
** MAII scorelog2(2/8*10)=1.32192809488736log2(45/7680*10)=-4.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CEP57L1 [Title/Abstract] AND CPM [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCEP57L1(109416778)-CPM(69326620), # 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


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
ChimerDB4SARCTCGA-QC-AA9N-01ACEP57L1chr6

109416778

+CPMchr12

69326620

-


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Fusion Gene ORF analysis for CEP57L1-CPM

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
3UTR-5UTRENST00000521737ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
3UTR-5UTRENST00000521737ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
3UTR-5UTRENST00000521737ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
3UTR-intronENST00000521737ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000336977ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000336977ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000336977ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000368968ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000368968ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000368968ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000368970ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000368970ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000368970ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000407272ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000407272ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000407272ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000517392ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000517392ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000517392ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000519095ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000519095ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000519095ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000520883ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000520883ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000520883ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000521277ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000521277ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000521277ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000521522ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000521522ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000521522ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000523787ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000523787ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-5UTRENST00000523787ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000336977ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000368968ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000368970ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000407272ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000517392ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000519095ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000520883ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000521277ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000521522ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
5UTR-intronENST00000523787ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-
intron-5UTRENST00000359793ENST00000338356CEP57L1chr6

109416778

+CPMchr12

69326620

-
intron-5UTRENST00000359793ENST00000546373CEP57L1chr6

109416778

+CPMchr12

69326620

-
intron-5UTRENST00000359793ENST00000551568CEP57L1chr6

109416778

+CPMchr12

69326620

-
intron-intronENST00000359793ENST00000549691CEP57L1chr6

109416778

+CPMchr12

69326620

-

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 CEP57L1-CPM


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 CEP57L1-CPM


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/:109416778/:69326620)
- 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
.CPM

P14384

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: Specifically removes C-terminal basic residues (Arg or Lys) from peptides and proteins. It is believed to play important roles in the control of peptide hormone and growth factor activity at the cell surface, and in the membrane-localized degradation of extracellular proteins. {ECO:0000269|PubMed:12457462}.

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 CEP57L1-CPM


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 CEP57L1-CPM


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 CEP57L1-CPM


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 CEP57L1-CPM


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0014175Endometriosis1CTD_human
TgeneC0037116Silicosis1CTD_human
TgeneC0269102Endometrioma1CTD_human