FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 18242

FusionGeneSummary for KCNAB2_PDLIM7

check button Fusion gene summary
Fusion gene informationFusion gene name: KCNAB2_PDLIM7
Fusion gene ID: 18242
HgeneTgene
Gene symbol

KCNAB2

PDLIM7

Gene ID

8514

9260

Gene namepotassium voltage-gated channel subfamily A regulatory beta subunit 2PDZ and LIM domain 7
SynonymsAKR6A5|HKvbeta2|HKvbeta2.1|HKvbeta2.2|KCNA2B|KV-BETA-2LMP1|LMP3
Cytomap

1p36.31

5q35.3

Type of geneprotein-codingprotein-coding
Descriptionvoltage-gated potassium channel subunit beta-2K(+) channel subunit beta-2potassium channel, voltage gated subfamily A regulatory beta subunit 2potassium voltage-gated channel, shaker-related subfamily, beta member 2PDZ and LIM domain protein 71110003B01RikLIM domain proteinLMPLim mineralization protein 3PDZ and LIM domain 7 (enigma)protein enigma
Modification date2018051920180519
UniProtAcc

Q13303

Q9NR12

Ensembl transtripts involved in fusion geneENST00000378097, ENST00000352527, 
ENST00000341524, ENST00000164247, 
ENST00000378083, ENST00000378111, 
ENST00000378092, ENST00000602612, 
ENST00000378087, ENST00000459822, 
ENST00000458166, 		ENST00000359895, 
ENST00000356618, ENST00000355841, 
ENST00000505746, ENST00000393551, 
ENST00000355572, 
Fusion gene scores* DoF score5 X 4 X 4=805 X 6 X 2=60
# samples 66
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/60*10)=0
Context

PubMed: KCNAB2 [Title/Abstract] AND PDLIM7 [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
HgeneKCNAB2

GO:1901379

regulation of potassium ion transmembrane transport

7649300


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
ChiTaRS3.1BP378678KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
* 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-intronENST00000378097ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378097ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378097ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378097ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378097ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000378097ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000352527ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000352527ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000352527ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000352527ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000352527ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000352527ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000341524ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000341524ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000341524ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000341524ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000341524ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000341524ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000164247ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000164247ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000164247ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000164247ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000164247ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000164247ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378083ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378083ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378083ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378083ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378083ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000378083ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378111ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378111ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378111ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378111ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378111ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000378111ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378092ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378092ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378092ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378092ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378092ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000378092ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000602612ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000602612ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000602612ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000602612ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000602612ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000602612ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378087ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378087ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378087ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378087ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000378087ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000378087ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
intron-intronENST00000459822ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
intron-intronENST00000459822ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
intron-intronENST00000459822ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
intron-intronENST00000459822ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
intron-intronENST00000459822ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
intron-3UTRENST00000459822ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000458166ENST00000359895KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000458166ENST00000356618KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000458166ENST00000355841KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000458166ENST00000505746KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-intronENST00000458166ENST00000393551KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-
5CDS-3UTRENST00000458166ENST00000355572KCNAB2chr1

6142303

+PDLIM7chr5

176917471

-

Top

FusionProtFeatures for KCNAB2_PDLIM7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KCNAB2

Q13303

PDLIM7

Q9NR12

May function as a scaffold on which the coordinatedassembly of proteins can occur. May play a role as an adapterthat, via its PDZ domain, localizes LIM-binding proteins to actinfilaments of both skeletal muscle and nonmuscle tissues. Involvedin both of the two fundamental mechanisms of bone formation,direct bone formation (e.g. embryonic flat bones mandible andcranium), and endochondral bone formation (e.g. embryonic longbone development). Plays a role during fracture repair. Involvedin BMP6 signaling pathway (By similarity). {ECO:0000250,ECO:0000269|PubMed:11874232, ECO:0000269|PubMed:7929196}.

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


Top

FusionGeneSequence for KCNAB2_PDLIM7


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).

Top

FusionGenePPI for KCNAB2_PDLIM7


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


Top

RelatedDrugs for KCNAB2_PDLIM7


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

Top

RelatedDiseases for KCNAB2_PDLIM7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCNAB2C0014544Epilepsy1CTD_human;HPO