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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:KLHL25-FARP1 (FusionGDB2 ID:42981)

Fusion Gene Summary for KLHL25-FARP1

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHL25-FARP1
Fusion gene ID: 42981
HgeneTgene
Gene symbol

KLHL25

FARP1

Gene ID

64410

10160

Gene namekelch like family member 25FERM, ARH/RhoGEF and pleckstrin domain protein 1
SynonymsENC-2|ENC2CDEP|FARP1-IT1|PLEKHC2|PPP1R75
Cytomap

15q25.3

13q32.2

Type of geneprotein-codingprotein-coding
Descriptionkelch-like protein 25BTB/POZ KELCH domain proteinectoderm-neural cortex protein 2ectodermal-neural cortex 2kelch-like 25FERM, ARHGEF and pleckstrin domain-containing protein 1FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)FERM, RhoGEF and pleckstrin domain-containing protein 1PH domain-containing family C member 2chondrocyte-derived ezrin-li
Modification date2020031320200313
UniProtAcc

Q9H0H3

Q9Y4F1

Ensembl transtripts involved in fusion geneENST00000337975, ENST00000536947, 
ENST00000559131, 
ENST00000319562, 
ENST00000376581, ENST00000376586, 
ENST00000595437, ENST00000593990, 
Fusion gene scores* DoF score2 X 2 X 2=819 X 19 X 8=2888
# samples 222
** MAII scorelog2(2/8*10)=1.32192809488736log2(22/2888*10)=-3.71449531336251
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLHL25 [Title/Abstract] AND FARP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKLHL25(86337997)-FARP1(98865474), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneKLHL25

GO:0006446

regulation of translational initiation

22578813

HgeneKLHL25

GO:0006511

ubiquitin-dependent protein catabolic process

22578813

HgeneKLHL25

GO:0016567

protein ubiquitination

22578813

TgeneFARP1

GO:0010923

negative regulation of phosphatase activity

19389623


check buttonFusion gene breakpoints across KLHL25 (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 FARP1 (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
ChimerDB4STADTCGA-BR-8058-01AKLHL25chr15

86337997

-FARP1chr13

98865474

+


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Fusion Gene ORF analysis for KLHL25-FARP1

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
5UTR-5UTRENST00000337975ENST00000319562KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000337975ENST00000376581KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000337975ENST00000376586KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000337975ENST00000595437KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000536947ENST00000319562KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000536947ENST00000376581KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000536947ENST00000376586KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000536947ENST00000595437KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000559131ENST00000319562KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000559131ENST00000376581KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000559131ENST00000376586KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-5UTRENST00000559131ENST00000595437KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-intronENST00000337975ENST00000593990KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-intronENST00000536947ENST00000593990KLHL25chr15

86337997

-FARP1chr13

98865474

+
5UTR-intronENST00000559131ENST00000593990KLHL25chr15

86337997

-FARP1chr13

98865474

+

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 KLHL25-FARP1


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)
KLHL25chr1586337996-FARP1chr1398865473+1.25E-101
KLHL25chr1586337996-FARP1chr1398865473+1.25E-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.
genomic feature of top 1%

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Fusion Protein Features for KLHL25-FARP1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:86337997/:98865474)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHL25

Q9H0H3

FARP1

Q9Y4F1

FUNCTION: Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex required for translational homeostasis. The BCR(KLHL25) ubiquitin ligase complex acts by mediating ubiquitination of hypophosphorylated EIF4EBP1 (4E-BP1): ubiquitination and subsequent degradation of hypophosphorylated EIF4EBP1 (4E-BP1) probably serves as a homeostatic mechanism to maintain translation and prevent eIF4E inhibition when eIF4E levels are low. The BCR(KLHL25) complex does not target EIF4EBP1 (4E-BP1) when it is hyperphosphorylated or associated with eIF4E. {ECO:0000269|PubMed:22578813}.FUNCTION: Functions as guanine nucleotide exchange factor for RAC1. May play a role in semaphorin signaling. Plays a role in the assembly and disassembly of dendritic filopodia, the formation of dendritic spines, regulation of dendrite length and ultimately the formation of synapses (By similarity). {ECO:0000250}.

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 KLHL25-FARP1


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 KLHL25-FARP1


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 KLHL25-FARP1


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 KLHL25-FARP1


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