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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:KXD1-EML5 (FusionGDB2 ID:43759)

Fusion Gene Summary for KXD1-EML5

check button Fusion gene summary
Fusion gene informationFusion gene name: KXD1-EML5
Fusion gene ID: 43759
HgeneTgene
Gene symbol

KXD1

EML5

Gene ID

79036

161436

Gene nameKxDL motif containing 1EMAP like 5
SynonymsBORCS4|C10orf50|C19orf50|KXDL|MST096|MSTP096EMAP-2|EMAP-5|FAP16
Cytomap

19p13.11

14q31.3

Type of geneprotein-codingprotein-coding
DescriptionkxDL motif-containing protein 1BLOC-1 related complex subunit 4UPF0459 protein C19orf50echinoderm microtubule-associated protein-like 5echinoderm microtubule associated protein like 5
Modification date2020031320200313
UniProtAcc

Q9BQD3

Q05BV3

Ensembl transtripts involved in fusion geneENST00000222307, ENST00000539106, 
ENST00000540691, ENST00000602094, 
ENST00000595073, ENST00000598830, 
ENST00000599000, ENST00000599319, 
ENST00000600796, ENST00000601630, 
ENST00000352093, ENST00000380664, 
ENST00000553320, ENST00000554922, 
Fusion gene scores* DoF score7 X 7 X 3=1476 X 6 X 2=72
# samples 76
** MAII scorelog2(7/147*10)=-1.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KXD1 [Title/Abstract] AND EML5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKXD1(18680181)-EML5(89130074), # 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

check buttonFusion gene breakpoints across KXD1 (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 EML5 (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
ChiTaRS5.0N/AAF173381KXD1chr19

18680181

+EML5chr14

89130074

-


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Fusion Gene ORF analysis for KXD1-EML5

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
3UTR-intronENST00000222307ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000222307ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000222307ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000222307ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000539106ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000539106ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000539106ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000539106ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000540691ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000540691ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000540691ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000540691ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000602094ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000602094ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000602094ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
3UTR-intronENST00000602094ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000595073ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000595073ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000595073ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000595073ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000598830ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000598830ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000598830ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000598830ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599000ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599000ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599000ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599000ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599319ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599319ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599319ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000599319ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000600796ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000600796ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000600796ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000600796ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000601630ENST00000352093KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000601630ENST00000380664KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000601630ENST00000553320KXD1chr19

18680181

+EML5chr14

89130074

-
intron-intronENST00000601630ENST00000554922KXD1chr19

18680181

+EML5chr14

89130074

-

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 KXD1-EML5


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)

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 KXD1-EML5


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/:18680181/:89130074)
- 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
KXD1

Q9BQD3

EML5

Q05BV3

FUNCTION: As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor (PubMed:25898167). May be involved in the biogenesis of lysosome-related organelles such as melanosomes (By similarity). {ECO:0000250|UniProtKB:Q80XH1, ECO:0000269|PubMed:25898167}.FUNCTION: May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. {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 KXD1-EML5


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 KXD1-EML5


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 KXD1-EML5


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 KXD1-EML5


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