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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 27473

FusionGeneSummary for PLBD2_CIDEC

check button Fusion gene summary
Fusion gene informationFusion gene name: PLBD2_CIDEC
Fusion gene ID: 27473
HgeneTgene
Gene symbol

PLBD2

CIDEC

Gene ID

196463

63924

Gene namephospholipase B domain containing 2cell death inducing DFFA like effector c
SynonymsP76CIDE-3|CIDE3|FPLD5|FSP27
Cytomap

12q24.13

3p25.3

Type of geneprotein-codingprotein-coding
Descriptionputative phospholipase B-like 276 kDa proteinLAMA-like protein 2PLB homolog 2lamina ancestor homolog 2mannose-6-phosphate protein associated protein p76phospholipase B domain-containing protein 2phospholipase B-like 2 32 kDa formphospholipase B-licell death activator CIDE-3fat specific protein 27
Modification date2018051920180523
UniProtAcc

Q8NHP8

Q96AQ7

Ensembl transtripts involved in fusion geneENST00000545182, ENST00000280800, 
ENST00000547163, 
ENST00000455015, 
ENST00000336832, ENST00000423850, 
ENST00000383817, ENST00000430427, 
ENST00000443115, 
Fusion gene scores* DoF score3 X 2 X 3=187 X 6 X 3=126
# samples 37
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLBD2 [Title/Abstract] AND CIDEC [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneCIDEC

GO:0006915

apoptotic process

12429024

TgeneCIDEC

GO:0097194

execution phase of apoptosis

12429024


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVACCTCGA-OR-A5L6-01APLBD2chr12

113796695

+CIDECchr3

9920195

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
5CDS-5UTRENST00000545182ENST00000455015PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000545182ENST00000336832PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000545182ENST00000423850PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000545182ENST00000383817PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000545182ENST00000430427PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-intronENST00000545182ENST00000443115PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000280800ENST00000455015PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000280800ENST00000336832PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000280800ENST00000423850PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000280800ENST00000383817PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-5UTRENST00000280800ENST00000430427PLBD2chr12

113796695

+CIDECchr3

9920195

-
5CDS-intronENST00000280800ENST00000443115PLBD2chr12

113796695

+CIDECchr3

9920195

-
intron-5UTRENST00000547163ENST00000455015PLBD2chr12

113796695

+CIDECchr3

9920195

-
intron-5UTRENST00000547163ENST00000336832PLBD2chr12

113796695

+CIDECchr3

9920195

-
intron-5UTRENST00000547163ENST00000423850PLBD2chr12

113796695

+CIDECchr3

9920195

-
intron-5UTRENST00000547163ENST00000383817PLBD2chr12

113796695

+CIDECchr3

9920195

-
intron-5UTRENST00000547163ENST00000430427PLBD2chr12

113796695

+CIDECchr3

9920195

-
intron-intronENST00000547163ENST00000443115PLBD2chr12

113796695

+CIDECchr3

9920195

-

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FusionProtFeatures for PLBD2_CIDEC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLBD2

Q8NHP8

CIDEC

Q96AQ7

Putative phospholipase. {ECO:0000250}. Binds to lipid droplets and regulates their enlargement,thereby restricting lipolysis and favoring storage. At focalcontact sites between lipid droplets, promotes directional netneutral lipid transfer from the smaller to larger lipid droplets.The transfer direction may be driven by the internal pressuredifference between the contacting lipid droplet pair. Its role inneutral lipid transfer and lipid droplet enlargement is activatedby the interaction with PLIN1. May act as a CEBPB coactivator inthe white adipose tissue to control the expression of a subset ofCEBPB downstream target genes, including SOCS1, SOCS3, TGFB1,TGFBR1, ID2 and XDH. When overexpressed in preadipocytes, inducesapoptosis or increases cell susceptibility to apoptosis induced byserum deprivation or TGFB treatment. As mature adipocytes, thatexpress high CIDEC levels, are quite resistant to apoptoticstimuli, the physiological significance of its role in apoptosisis unclear. May play a role in the modulation of the response toosmotic stress by preventing NFAT5 to translocate into the nucleusand activate its target genes expression.{ECO:0000269|PubMed:12429024, ECO:0000269|PubMed:18334488,ECO:0000269|PubMed:19843876, ECO:0000269|PubMed:20049731,ECO:0000269|PubMed:23399566}.

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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FusionGeneSequence for PLBD2_CIDEC


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for PLBD2_CIDEC


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
PLBD2WDHD1, RBM12, FBXO6, MRPL9, TBCB, MYH11, TFG, ZWINT, STRAP, CHORDC1, KIAA0368, TRIM25CIDECVCP, CIDEA, CIDEC, EGR1, PRSS2, TOP1, AMFR


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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RelatedDrugs for PLBD2_CIDEC


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for PLBD2_CIDEC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCIDECC0162820Dermatitis, Allergic Contact1CTD_human