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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: 20121

FusionGeneSummary for LRP1B_KCNH8

check button Fusion gene summary
Fusion gene informationFusion gene name: LRP1B_KCNH8
Fusion gene ID: 20121
HgeneTgene
Gene symbol

LRP1B

KCNH8

Gene ID

53353

131096

Gene nameLDL receptor related protein 1Bpotassium voltage-gated channel subfamily H member 8
SynonymsLRP-1B|LRP-DIT|LRPDITELK|ELK1|Kv12.1|elk3
Cytomap

2q22.1-q22.2

3p24.3

Type of geneprotein-codingprotein-coding
Descriptionlow-density lipoprotein receptor-related protein 1BLRP-deleted in tumorslow density lipoprotein receptor related protein-deleted in tumorlow density lipoprotein receptor-related protein 1Blow density lipoprotein-related protein 1B (deleted in tumors)potassium voltage-gated channel subfamily H member 8ELK channel 3ether-a-go-go-like potassium channel 1ether-a-go-go-like potassium channel 3hElk1potassium channel, voltage gated eag related subfamily H, member 8potassium voltage-gated channel, subf
Modification date2018051920180523
UniProtAcc

Q9NZR2

Q96L42

Ensembl transtripts involved in fusion geneENST00000389484, ENST00000486364, 
ENST00000328405, ENST00000475063, 
ENST00000537696, 
Fusion gene scores* DoF score7 X 7 X 3=1472 X 2 X 1=4
# samples 72
** MAII scorelog2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: LRP1B [Title/Abstract] AND KCNH8 [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
ChiTaRS3.1BF364794LRP1Bchr2

142611154

+KCNH8chr3

19362665

-
* 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
intron-intronENST00000389484ENST00000328405LRP1Bchr2

142611154

+KCNH8chr3

19362665

-
intron-intronENST00000389484ENST00000475063LRP1Bchr2

142611154

+KCNH8chr3

19362665

-
intron-intronENST00000389484ENST00000537696LRP1Bchr2

142611154

+KCNH8chr3

19362665

-
intron-intronENST00000486364ENST00000328405LRP1Bchr2

142611154

+KCNH8chr3

19362665

-
intron-intronENST00000486364ENST00000475063LRP1Bchr2

142611154

+KCNH8chr3

19362665

-
intron-intronENST00000486364ENST00000537696LRP1Bchr2

142611154

+KCNH8chr3

19362665

-

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FusionProtFeatures for LRP1B_KCNH8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
LRP1B

Q9NZR2

KCNH8

Q96L42

Potential cell surface proteins that bind andinternalize ligands in the process of receptor-mediatedendocytosis. Pore-forming (alpha) subunit of voltage-gated potassiumchannel. Elicits a slowly activating, outward rectifying current.Channel properties may be modulated by cAMP and subunit assembly.

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 LRP1B_KCNH8


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 LRP1B_KCNH8


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


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RelatedDrugs for LRP1B_KCNH8


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 LRP1B_KCNH8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLRP1BC0007134Renal Cell Carcinoma1CTD_human
HgeneLRP1BC0025202melanoma1CTD_human