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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: 26600

FusionGeneSummary for PDZD2_KCNB2

check button Fusion gene summary
Fusion gene informationFusion gene name: PDZD2_KCNB2
Fusion gene ID: 26600
HgeneTgene
Gene symbol

PDZD2

KCNB2

Gene ID

23037

9312

Gene namePDZ domain containing 2potassium voltage-gated channel subfamily B member 2
SynonymsAIPC|PAPIN|PDZK3|PIN1KV2.2
Cytomap

5p13.3

8q21.11

Type of geneprotein-codingprotein-coding
DescriptionPDZ domain-containing protein 2PDZ domain-containing protein 3activated in prostate cancer proteinplakophilin-related armadillo repeat protein-interactive PDZ proteinpotassium voltage-gated channel subfamily B member 2delayed rectifier potassium channel proteinpotassium channel Kv2.2potassium channel, voltage gated Shab related subfamily B, member 2potassium voltage-gated channel, Shab-related subfamily, member 2
Modification date2018051920180523
UniProtAcc

O15018

Q92953

Ensembl transtripts involved in fusion geneENST00000438447, ENST00000282493, 
ENST00000513490, 
ENST00000523207, 
Fusion gene scores* DoF score5 X 5 X 4=1003 X 2 X 3=18
# samples 54
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PDZD2 [Title/Abstract] AND KCNB2 [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
TCGALDESCATCGA-LN-A7HV-01APDZD2chr5

32053989

+KCNB2chr8

73848170

+
* 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
Frame-shiftENST00000438447ENST00000523207PDZD2chr5

32053989

+KCNB2chr8

73848170

+
Frame-shiftENST00000282493ENST00000523207PDZD2chr5

32053989

+KCNB2chr8

73848170

+
intron-3CDSENST00000513490ENST00000523207PDZD2chr5

32053989

+KCNB2chr8

73848170

+

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FusionProtFeatures for PDZD2_KCNB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PDZD2

O15018

KCNB2

Q92953

Voltage-gated potassium channel that mediatestransmembrane potassium transport in excitable membranes,primarily in the brain and smooth muscle cells. Channels open orclose in response to the voltage difference across the membrane,letting potassium ions pass in accordance with theirelectrochemical gradient. Homotetrameric channels mediate adelayed-rectifier voltage-dependent outward potassium current thatdisplay rapid activation and slow inactivation in response tomembrane depolarization. Can form functional homotetrameric andheterotetrameric channels that contain variable proportions ofKCNB1; channel properties depend on the type of alpha subunitsthat are part of the channel. Can also form functionalheterotetrameric channels with other alpha subunits that are non-conducting when expressed alone, such as KCNS1 and KCNS2, creatinga functionally diverse range of channel complexes. In vivo,membranes probably contain a mixture of heteromeric potassiumchannel complexes, making it difficult to assign currents observedin intact tissues to any particular potassium channel familymember. Contributes to the delayed-rectifier voltage-gatedpotassium current in cortical pyramidal neurons and smooth musclecells. {ECO:0000250|UniProtKB:A6H8H5,ECO:0000250|UniProtKB:Q63099}.

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 PDZD2_KCNB2


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 PDZD2_KCNB2


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
PDZD2CTNND2, PKP4, ERBB2IP, RAD21, NRXN1, MYC, BAI1, NUP35, PTOV1, DDX24, PRPF40AKCNB2KCNV1, KCNB1, KCNB2, KCNG3, KCNG4, KCNS3


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 PDZD2_KCNB2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKCNB2Q92953DB06637DalfampridinePotassium voltage-gated channel subfamily B member 2 {ECO:0000312|HGNC:HGNC:6232}small moleculeapproved

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RelatedDiseases for PDZD2_KCNB2


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