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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CENPL-KLHL20 (FusionGDB2 ID:15742)

Fusion Gene Summary for CENPL-KLHL20

check button Fusion gene summary
Fusion gene informationFusion gene name: CENPL-KLHL20
Fusion gene ID: 15742
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 date2020031320200327
UniProtAcc

Q8N0S6

Q9Y2M5

Ensembl transtripts involved in fusion geneENST00000356198, ENST00000345664, 
ENST00000367710, ENST00000495275, 
ENST00000546011, ENST00000209884, 
ENST00000493170, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 6 X 5=150
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointCENPL(173776405)-KLHL20(173720903), # samples:1
Anticipated loss of major functional domain due to fusion event.CENPL-KLHL20 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across CENPL (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KLHL20 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LIHCTCGA-CC-A3MB-01ACENPLchr1

173776405

-KLHL20chr1

173720903

+


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Fusion Gene ORF analysis for CENPL-KLHL20

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

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CENPL-KLHL20


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CENPLchr1173776404-KLHL20chr1173720902+3.23E-101
CENPLchr1173776404-KLHL20chr1173720902+3.23E-101

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CENPL-KLHL20


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q8N0S6

KLHL20

Q9Y2M5

FUNCTION: Component of the CENPA-CAD (nucleosome distal) complex, a complex recruited to centromeres which is involved in assembly of kinetochore proteins, mitotic progression and chromosome segregation. May be involved in incorporation of newly synthesized CENPA into centromeres via its interaction with the CENPA-NAC complex. {ECO:0000269|PubMed:16716197}.FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex involved in interferon response and anterograde Golgi to endosome transport. The BCR(KLHL20) E3 ubiquitin ligase complex mediates the ubiquitination of DAPK1, leading to its degradation by the proteasome, thereby acting as a negative regulator of apoptosis (PubMed:20389280). The BCR(KLHL20) E3 ubiquitin ligase complex also specifically mediates 'Lys-33'-linked ubiquitination (PubMed:24768539). Involved in anterograde Golgi to endosome transport by mediating 'Lys-33'-linked ubiquitination of CORO7, promoting interaction between CORO7 and EPS15, thereby facilitating actin polymerization and post-Golgi trafficking (PubMed:24768539). Also acts as a regulator of endothelial migration during angiogenesis by controlling the activation of Rho GTPases. The BCR(KLHL20) E3 ubiquitin ligase complex acts as a regulator of neurite outgrowth by mediating ubiquitination and degradation of PDZ-RhoGEF/ARHGEF11 (PubMed:21670212). In case of tumor, the BCR(KLHL20) E3 ubiquitin ligase complex is involved in tumor hypoxia: following hypoxia, the BCR(KLHL20)complex mediates ubiquitination and degradation of PML, 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


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Fusion Gene Sequence for CENPL-KLHL20


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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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Related Drugs for CENPL-KLHL20


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CENPL-KLHL20


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