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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: 19528

FusionGeneSummary for LCORL_PKD2

check button Fusion gene summary
Fusion gene informationFusion gene name: LCORL_PKD2
Fusion gene ID: 19528
HgeneTgene
Gene symbol

LCORL

PKD2

Gene ID

254251

25865

Gene nameligand dependent nuclear receptor corepressor likeprotein kinase D2
SynonymsMLR1HSPC187|PKD2|nPKC-D2
Cytomap

4p15.31

19q13.32

Type of geneprotein-codingprotein-coding
Descriptionligand-dependent nuclear receptor corepressor-like proteinLCOR-like proteinMBLK1-related proteintranscription factor MLR1serine/threonine-protein kinase D2
Modification date2018051920180523
UniProtAcc

Q8N3X6

Q13563

Ensembl transtripts involved in fusion geneENST00000326877, ENST00000539056, 
ENST00000382224, ENST00000382226, 
ENST00000512376, 		ENST00000237596, 
ENST00000508588, ENST00000511337, 
ENST00000502363, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: LCORL [Title/Abstract] AND PKD2 [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
TgenePKD2

GO:0006468

protein phosphorylation

22228765

TgenePKD2

GO:0018105

peptidyl-serine phosphorylation

18440775

TgenePKD2

GO:0045944

positive regulation of transcription by RNA polymerase II

17077180

TgenePKD2

GO:0046777

protein autophosphorylation

17077180

TgenePKD2

GO:0050852

T cell receptor signaling pathway

17077180


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
ChiTaRS3.1BE934269LCORLchr4

17995450

-PKD2chr4

88998465

+
* 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-3UTRENST00000326877ENST00000237596LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000326877ENST00000508588LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000326877ENST00000511337LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000326877ENST00000502363LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-3UTRENST00000539056ENST00000237596LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000539056ENST00000508588LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000539056ENST00000511337LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000539056ENST00000502363LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-3UTRENST00000382224ENST00000237596LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000382224ENST00000508588LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000382224ENST00000511337LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000382224ENST00000502363LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-3UTRENST00000382226ENST00000237596LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000382226ENST00000508588LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000382226ENST00000511337LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000382226ENST00000502363LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-3UTRENST00000512376ENST00000237596LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000512376ENST00000508588LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000512376ENST00000511337LCORLchr4

17995450

-PKD2chr4

88998465

+
intron-intronENST00000512376ENST00000502363LCORLchr4

17995450

-PKD2chr4

88998465

+

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FusionProtFeatures for LCORL_PKD2


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

Q8N3X6

PKD2

Q13563

May act as transcription activator that binds DNAelements with the sequence 5'-CCCTATCGATCGATCTCTACCT-3'. May playa role in spermatogenesis (By similarity). {ECO:0000250}. Functions as a cation channel involved in fluid-flowmechanosensation by the primary cilium in renal epithelium(PubMed:18695040). Functions as outward-rectifying K(+) channel,but is also permeable to Ca(2+), and to a much lesser degree alsoto Na(+) (PubMed:11854751, PubMed:15692563, PubMed:27071085,PubMed:27991905). May contribute to the release of Ca(2+) storesfrom the endoplasmic reticulum (PubMed:11854751, PubMed:20881056).Together with TRPV4, forms mechano- and thermosensitive channelsin cilium (PubMed:18695040). PKD1 and PKD2 may function through acommon signaling pathway that is necessary to maintain the normal,differentiated state of renal tubule cells. Acts as a regulator ofcilium length, together with PKD1. The dynamic control of ciliumlength is essential in the regulation of mechanotransductivesignaling. The cilium length response creates a negative feedbackloop whereby fluid shear-mediated deflection of the primarycilium, which decreases intracellular cAMP, leads to ciliumshortening and thus decreases flow-induced signaling. Alsoinvolved in left-right axis specification via its role in sensingnodal flow; forms a complex with PKD1L1 in cilia to facilitateflow detection in left-right patterning. Detection of asymmetricnodal flow gives rise to a Ca(2+) signal that is required fornormal, asymmetric expression of genes involved in thespecification of body left-right laterality (By similarity).{ECO:0000250|UniProtKB:O35245, ECO:0000269|PubMed:11854751,ECO:0000269|PubMed:15692563, ECO:0000269|PubMed:16551655,ECO:0000269|PubMed:18695040, ECO:0000269|PubMed:20881056,ECO:0000269|PubMed:27991905, ECO:0000305}.

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 LCORL_PKD2


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 LCORL_PKD2


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 LCORL_PKD2


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 LCORL_PKD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneLCORLC0005612Birth Weight1CTD_human
TgenePKD2C2751306Polycystic kidney disease, type 26UNIPROT
TgenePKD2C0085413Polycystic Kidney, Autosomal Dominant4CTD_human
TgenePKD2C0023893Liver Cirrhosis, Experimental1CTD_human
TgenePKD2C0035309Retinal Diseases1CTD_human
TgenePKD2C0042373Vascular Diseases1CTD_human
TgenePKD2C0524851Neurodegenerative Disorders1CTD_human