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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: 26797

FusionGeneSummary for PGBD2_KIRREL3

check button Fusion gene summary
Fusion gene informationFusion gene name: PGBD2_KIRREL3
Fusion gene ID: 26797
HgeneTgene
Gene symbol

PGBD2

KIRREL3

Gene ID

267002

84623

Gene namepiggyBac transposable element derived 2kirre like nephrin family adhesion molecule 3
Synonyms-KIRRE|MRD4|NEPH2|PRO4502
Cytomap

1q44

11q24.2

Type of geneprotein-codingprotein-coding
DescriptionpiggyBac transposable element-derived protein 2kin of IRRE-like protein 3kin of IRRE like 3kin of irregular chiasm-like protein 3nephrin-like 2nephrin-like protein 2
Modification date2018051920180329
UniProtAcc

Q6P3X8

Q8IZU9

Ensembl transtripts involved in fusion geneENST00000355360, ENST00000329291, 
ENST00000539153, ENST00000462488, 
ENST00000525144, ENST00000529097, 
ENST00000525704, ENST00000533026, 
ENST00000416561, 
Fusion gene scores* DoF score3 X 3 X 3=277 X 5 X 3=105
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/105*10)=-0.807354922057604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PGBD2 [Title/Abstract] AND KIRREL3 [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

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
TCGALDBRCATCGA-A1-A0SO-01APGBD2chr1

249200541

+KIRREL3chr11

126343361

-
* 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
5UTR-3CDSENST00000355360ENST00000525144PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000355360ENST00000529097PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000355360ENST00000525704PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-intronENST00000355360ENST00000533026PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-intronENST00000355360ENST00000416561PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000329291ENST00000525144PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000329291ENST00000529097PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000329291ENST00000525704PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-intronENST00000329291ENST00000533026PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-intronENST00000329291ENST00000416561PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000539153ENST00000525144PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000539153ENST00000529097PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-3CDSENST00000539153ENST00000525704PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-intronENST00000539153ENST00000533026PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
5UTR-intronENST00000539153ENST00000416561PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
intron-3CDSENST00000462488ENST00000525144PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
intron-3CDSENST00000462488ENST00000529097PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
intron-3CDSENST00000462488ENST00000525704PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
intron-intronENST00000462488ENST00000533026PGBD2chr1

249200541

+KIRREL3chr11

126343361

-
intron-intronENST00000462488ENST00000416561PGBD2chr1

249200541

+KIRREL3chr11

126343361

-

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FusionProtFeatures for PGBD2_KIRREL3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PGBD2

Q6P3X8

KIRREL3

Q8IZU9

Synaptic adhesion molecule required for the formation oftarget-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Requiredfor formation of mossy fiber filopodia, the synaptic structuresconnecting dentate granule and GABA neurons. Probably acts as ahomophilic adhesion molecule that promotes trans-cellularinteractions and stabilize mossy fiber filipodia contact andsubsequent synapse formation. Required for the coalescence ofvomeronasal sensory neuron axons. May be involved in thehematopoietic supportive capacity of stroma cells; the secretedextracellular domain is directly responsible for supportinghematopoietic stem cells. {ECO:0000250|UniProtKB:Q8BR86}.

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 PGBD2_KIRREL3


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 PGBD2_KIRREL3


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
PGBD2PGBD1KIRREL3


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 PGBD2_KIRREL3


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 PGBD2_KIRREL3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKIRREL3C2675487Mental Retardation, Autosomal Dominant 41CTD_human;UNIPROT