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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:CEL-PLA2G1B

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: CEL-PLA2G1B
FusionPDB ID: 15638
FusionGDB2.0 ID: 15638
HgeneTgene
Gene symbol

CEL

PLA2G1B

Gene ID

1056

5319

Gene namecarboxyl ester lipasephospholipase A2 group IB
SynonymsBAL|BSDL|BSSL|CELL|CEase|FAP|FAPP|LIPA|MODY8PLA2|PLA2A|PPLA2
Cytomap

9q34.13

12q24.31

Type of geneprotein-codingprotein-coding
Descriptionbile salt-activated lipasebile salt-dependent lipase, oncofetal isoformbucelipasecarboxyl ester hydrolasecarboxyl ester lipase (bile salt-stimulated lipase)cholesterol esterasefetoacinar pancreatic proteinlysophospholipase, pancreaticsterol esteraphospholipase A2phosphatidylcholine 2-acylhydrolase 1Bphospholipase A2, group IB (pancreas)
Modification date2020031320200313
UniProtAcc

Q9NYQ7

.
Ensembl transtripts involved in fusion geneENST idsENST00000351304, ENST00000372080, 
ENST00000423423, ENST00000549767, 
ENST00000308366, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score4 X 7 X 3=847 X 6 X 7=294
# samples 810
** MAII scorelog2(8/84*10)=-0.070389327891398
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/294*10)=-1.55581615506164
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: CEL [Title/Abstract] AND PLA2G1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)CEL(135959926)-PLA2G1B(120762778), # samples:1
CEL(135944124)-PLA2G1B(120762795), # samples:1
Anticipated loss of major functional domain due to fusion event.CEL-PLA2G1B seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
CEL-PLA2G1B seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneCEL

GO:0006707

cholesterol catabolic process

12031288

HgeneCEL

GO:0030157

pancreatic juice secretion

1854805

TgenePLA2G1B

GO:0002227

innate immune response in mucosa

12860195

TgenePLA2G1B

GO:0006633

fatty acid biosynthetic process

1918029

TgenePLA2G1B

GO:0008284

positive regulation of cell proliferation

1918029

TgenePLA2G1B

GO:0016042

lipid catabolic process

7060561

TgenePLA2G1B

GO:0019731

antibacterial humoral response

12860195

TgenePLA2G1B

GO:0046470

phosphatidylcholine metabolic process

7060561

TgenePLA2G1B

GO:0048146

positive regulation of fibroblast proliferation

1918029

TgenePLA2G1B

GO:0050830

defense response to Gram-positive bacterium

12860195

TgenePLA2G1B

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

12860195


check buttonFusion gene breakpoints across CEL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PLA2G1B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4Non-CancerERR315429CELchr9

135944124

+PLA2G1Bchr12

120762795

-
ChimerDB4Non-CancerERR315466CELchr9

135959926

+PLA2G1Bchr12

120762778

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000351304CELchr9135944124+ENST00000308366PLA2G1Bchr12120762795-1307104111461382
ENST00000372080CELchr9135944124+ENST00000308366PLA2G1Bchr12120762795-1307104111461382

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
ENST00000351304ENST00000308366CELchr9135944124+PLA2G1Bchr12120762795-0.0015554190.9984446
ENST00000372080ENST00000308366CELchr9135944124+PLA2G1Bchr12120762795-0.0015554190.9984446

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>15638_15638_1_CEL-PLA2G1B_CEL_chr9_135944124_ENST00000351304_PLA2G1B_chr12_120762795_ENST00000308366_length(amino acids)=382AA_BP=
MVSRFLCALLYGAFEKQMAALRSQLQMKASHSLFLLRDFLVALVDGRHVDAGEDVAVHVVGACYIVDVGGVGVQVELQACQRHLIGQRQG
SGISNLQTLGHPGGITHRATHLLSHLFGPEEWVFLDDPGTQGHAALADGSPDEALVVGGEGLQRDAGTSSRLPEERDVVGVPPEGRDIPL
HPSNGHVLIPKAIVTWQIGVPSAEEPKGADTVVEGDHDDVSACGDLLAVIQVVVEEVGPMAGPHEEGASIDPDHNGQVPGDLLPALGHPN
VEVQAVFIPVGAVLGDGGLQASLLEVLGLQGPLPARMWLRIFQGLGGSCEGDALEDVHRVTQEAELLIDAFHEPTFCVHGAQLRGTRHCP

--------------------------------------------------------------

>15638_15638_2_CEL-PLA2G1B_CEL_chr9_135944124_ENST00000372080_PLA2G1B_chr12_120762795_ENST00000308366_length(amino acids)=382AA_BP=
MVSRFLCALLYGAFEKQMAALRSQLQMKASHSLFLLRDFLVALVDGRHVDAGEDVAVHVVGACYIVDVGGVGVQVELQACQRHLIGQRQG
SGISNLQTLGHPGGITHRATHLLSHLFGPEEWVFLDDPGTQGHAALADGSPDEALVVGGEGLQRDAGTSSRLPEERDVVGVPPEGRDIPL
HPSNGHVLIPKAIVTWQIGVPSAEEPKGADTVVEGDHDDVSACGDLLAVIQVVVEEVGPMAGPHEEGASIDPDHNGQVPGDLLPALGHPN
VEVQAVFIPVGAVLGDGGLQASLLEVLGLQGPLPARMWLRIFQGLGGSCEGDALEDVHRVTQEAELLIDAFHEPTFCVHGAQLRGTRHCP

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr9:135959926/chr12:120762778)
- 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
CEL

Q9NYQ7

.
FUNCTION: Receptor that may have an important role in cell/cell signaling during nervous system formation.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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCELchr9:135944124chr12:120762795ENST00000351304+11021_1210688.0RegionNote=Heparin-binding
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110559_7450688.0RegionNote=17 X 11 AA tandem repeats%2C glycodomain%2C O-linked (mucin type)
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110559_5690688.0RepeatNote=1
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110570_5800688.0RepeatNote=2
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110581_5910688.0RepeatNote=3
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110592_6020688.0RepeatNote=4
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110603_6130688.0RepeatNote=5
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110614_6240688.0RepeatNote=6
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110625_6350688.0RepeatNote=7
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110636_6460688.0RepeatNote=8
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110647_6570688.0RepeatNote=9
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110658_6680688.0RepeatNote=10
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110669_6790688.0RepeatNote=11
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110680_6900688.0RepeatNote=12
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110691_7010688.0RepeatNote=13
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110702_7120688.0RepeatNote=14
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110713_7230688.0RepeatNote=15
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110724_7340688.0RepeatNote=16
HgeneCELchr9:135944124chr12:120762795ENST00000351304+110735_7450688.0RepeatNote=17


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
CEL
PLA2G1B


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to CEL-PLA2G1B


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to CEL-PLA2G1B


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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