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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: 19013

FusionGeneSummary for KLHL18_HEMK1

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHL18_HEMK1
Fusion gene ID: 19013
HgeneTgene
Gene symbol

KLHL18

HEMK1

Gene ID

23276

51409

Gene namekelch like family member 18HemK methyltransferase family member 1
Synonyms-HEMK|MTQ1
Cytomap

3p21.31

3p21.31

Type of geneprotein-codingprotein-coding
Descriptionkelch-like protein 18hemK methyltransferase family member 1HEMK homolog 7kbm.HsaHemKPtestis secretory sperm-binding protein Li 225n
Modification date2018052220180522
UniProtAcc

O94889

Q9Y5R4

Ensembl transtripts involved in fusion geneENST00000232766, ENST00000455924, 
ENST00000483201, 
ENST00000434410, 
ENST00000232854, ENST00000455834, 
Fusion gene scores* DoF score3 X 1 X 3=92 X 2 X 3=12
# samples 33
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KLHL18 [Title/Abstract] AND HEMK1 [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

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
TCGARVBLCATCGA-DK-A3IQ-01AKLHL18chr3

47324584

+HEMK1chr3

50608362

+
* 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
5CDS-5UTRENST00000232766ENST00000434410KLHL18chr3

47324584

+HEMK1chr3

50608362

+
5CDS-5UTRENST00000232766ENST00000232854KLHL18chr3

47324584

+HEMK1chr3

50608362

+
5CDS-5UTRENST00000232766ENST00000455834KLHL18chr3

47324584

+HEMK1chr3

50608362

+
5UTR-5UTRENST00000455924ENST00000434410KLHL18chr3

47324584

+HEMK1chr3

50608362

+
5UTR-5UTRENST00000455924ENST00000232854KLHL18chr3

47324584

+HEMK1chr3

50608362

+
5UTR-5UTRENST00000455924ENST00000455834KLHL18chr3

47324584

+HEMK1chr3

50608362

+
3UTR-5UTRENST00000483201ENST00000434410KLHL18chr3

47324584

+HEMK1chr3

50608362

+
3UTR-5UTRENST00000483201ENST00000232854KLHL18chr3

47324584

+HEMK1chr3

50608362

+
3UTR-5UTRENST00000483201ENST00000455834KLHL18chr3

47324584

+HEMK1chr3

50608362

+

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FusionProtFeatures for KLHL18_HEMK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHL18

O94889

HEMK1

Q9Y5R4

N5-glutamine methyltransferase responsible for themethylation of the GGQ triplet of the mitochondrial translationrelease factor MTRF1L. {ECO:0000269|PubMed:18541145}.

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 KLHL18_HEMK1


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 KLHL18_HEMK1


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
KLHL18COPS5, COPS6, CUL3, CUL5, DCUN1D1, COPS3, COPS4, EEF1G, GPSM1, SMAP1, PCMT1, SUGT1, NUDCD3, AURKA, RBX1, UBE2M, ATP6V1G1, BAG4, CFH, NEDD9, TRIM25HEMK1CHN1, CDC23, MTRF1L, NDUFS7, TMCO3, TRMT1


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 KLHL18_HEMK1


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 KLHL18_HEMK1


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