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: 6768

FusionGeneSummary for CENPL_KLHL20

check button Fusion gene summary
Fusion gene informationFusion gene name: CENPL_KLHL20
Fusion gene ID: 6768
HgeneTgene
Gene symbol

CENPL

KLHL20

Gene ID

91687

27252

Gene namecentromere protein Lkelch like family member 20
SynonymsC1orf155|CENP-L|dJ383J4.3KHLHX|KLEIP|KLHLX
Cytomap

1q25.1

1q25.1

Type of geneprotein-codingprotein-coding
Descriptioncentromere protein Linterphase centromere complex protein 33kelch-like protein 20Kelch motif containing proteinkelch-like ECT2-interacting proteinkelch-like protein X
Modification date2018052220180523
UniProtAcc

Q8N0S6

Q9Y2M5

Ensembl transtripts involved in fusion geneENST00000356198, ENST00000345664, 
ENST00000367710, ENST00000495275, 
ENST00000546011, ENST00000209884, 
ENST00000493170, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 3 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CENPL [Title/Abstract] AND KLHL20 [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
TgeneKLHL20

GO:0016567

protein ubiquitination

20389280

TgeneKLHL20

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

20389280

TgeneKLHL20

GO:1990390

protein K33-linked ubiquitination

24768539


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
TCGARVLIHCTCGA-CC-A3MB-01ACENPLchr1

173776405

-KLHL20chr1

173720903

+
* 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-shiftENST00000356198ENST00000546011CENPLchr1

173776405

-KLHL20chr1

173720903

+
Frame-shiftENST00000356198ENST00000209884CENPLchr1

173776405

-KLHL20chr1

173720903

+
5CDS-intronENST00000356198ENST00000493170CENPLchr1

173776405

-KLHL20chr1

173720903

+
Frame-shiftENST00000345664ENST00000546011CENPLchr1

173776405

-KLHL20chr1

173720903

+
Frame-shiftENST00000345664ENST00000209884CENPLchr1

173776405

-KLHL20chr1

173720903

+
5CDS-intronENST00000345664ENST00000493170CENPLchr1

173776405

-KLHL20chr1

173720903

+
Frame-shiftENST00000367710ENST00000546011CENPLchr1

173776405

-KLHL20chr1

173720903

+
Frame-shiftENST00000367710ENST00000209884CENPLchr1

173776405

-KLHL20chr1

173720903

+
5CDS-intronENST00000367710ENST00000493170CENPLchr1

173776405

-KLHL20chr1

173720903

+
intron-3CDSENST00000495275ENST00000546011CENPLchr1

173776405

-KLHL20chr1

173720903

+
intron-3CDSENST00000495275ENST00000209884CENPLchr1

173776405

-KLHL20chr1

173720903

+
intron-intronENST00000495275ENST00000493170CENPLchr1

173776405

-KLHL20chr1

173720903

+

Top

FusionProtFeatures for CENPL_KLHL20


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

Q8N0S6

KLHL20

Q9Y2M5

Component of the CENPA-CAD (nucleosome distal) complex,a complex recruited to centromeres which is involved in assemblyof kinetochore proteins, mitotic progression and chromosomesegregation. May be involved in incorporation of newly synthesizedCENPA into centromeres via its interaction with the CENPA-NACcomplex. {ECO:0000269|PubMed:16716197}. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin-protein ligase complex involved in interferon responseand anterograde Golgi to endosome transport. The BCR(KLHL20) E3ubiquitin ligase complex mediates the ubiquitination of DAPK1,leading to its degradation by the proteasome, thereby acting as anegative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20)E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination (PubMed:24768539). Involved in anterogradeGolgi to endosome transport by mediating 'Lys-33'-linkedubiquitination of CORO7, promoting interaction between CORO7 andEPS15, thereby facilitating actin polymerization and post-Golgitrafficking (PubMed:24768539). Also acts as a regulator ofendothelial migration during angiogenesis by controlling theactivation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligasecomplex acts as a regulator of neurite outgrowth by mediatingubiquitination and degradation of PDZ-RhoGEF/ARHGEF11(PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitinligase complex is involved in tumor hypoxia: following hypoxia,the BCR(KLHL20)complex mediates ubiquitination and degradation ofPML, potentiating HIF-1 signaling and cancer progression(PubMed:21840486). {ECO:0000269|PubMed:14528312,ECO:0000269|PubMed:17395875, ECO:0000269|PubMed:20389280,ECO:0000269|PubMed:21670212, ECO:0000269|PubMed:21840486,ECO:0000269|PubMed:24768539}.

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 CENPL_KLHL20


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 CENPL_KLHL20


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
CENPLELAVL1, CENPM, CENPN, CENPU, JMJD6, FAM9B, ICK, EGFR, SCN3B, RRP8, GORASP1KLHL20ECT2, KLHL20, ACTA1, CRMP1, PIN1, C14orf1, GBP2, KIAA1377, LUC7L2, LRIF1, COPS6, DAPK1, CUL3, PML, EPAS1, PRMT6, SUV39H1, CORO7, ARHGEF12, FCGR3B, SATB2, NUFIP2, MAP7D2, USP27X, SPAG7, EIF2S2, PRIM2, HDGFRP2, MIOS, NARS, ATXN2L, FBXL17, NUDCD3, CTU2, POLDIP3, NRGN, ADSL, IPP, CNOT10, HELZ, CKAP5, PDXDC2P, PIR, KLHL26, OSBPL11, TRIM33, PCMT1, RHOA, HIF1AN, TCEA1, UBAP2, PRIM1, PICALM, GFER, RBM12, KRBA1, FAM189A2, ZBTB44, CDKL5, CRK, XPO1, IVNS1ABP, KLHL22, PCDHGA5, MAP3K13, UBE2M, CTH, TMA16, RELB, RPRD1B, HOOK3, MITF, ID2, MTNR1A


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 CENPL_KLHL20


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 CENPL_KLHL20


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