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: 11811

FusionGeneSummary for EPHA6_TRMT10C

check button Fusion gene summary
Fusion gene informationFusion gene name: EPHA6_TRMT10C
Fusion gene ID: 11811
HgeneTgene
Gene symbol

EPHA6

TRMT10C

Gene ID

285220

54931

Gene nameEPH receptor A6tRNA methyltransferase 10C, mitochondrial RNase P subunit
SynonymsEHK-2|EHK2|EK12|EPA6|HEK12|PRO57066COXPD30|HNYA|MRPP1|RG9MTD1
Cytomap

3q11.2

3q12.3

Type of geneprotein-codingprotein-coding
Descriptionephrin type-A receptor 6EPH homology kinase 2EPH-like kinase 12ephrin receptor EphA6tRNA methyltransferase 10 homolog CHBV pre-S2 trans-regulated protein 2RNA (guanine-9-) methyltransferase domain containing 1mRNA methyladenosine-N(1)-methyltransferasemitochondrial RNase P subunit 1mitochondrial ribonuclease P protein 1renal carcin
Modification date2018052320180522
UniProtAcc

Q9UF33

Q7L0Y3

Ensembl transtripts involved in fusion geneENST00000470610, ENST00000389672, 
ENST00000542517, ENST00000514100, 
ENST00000502694, ENST00000442602, 
ENST00000309922, 
Fusion gene scores* DoF score5 X 4 X 4=802 X 1 X 2=4
# samples 52
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: EPHA6 [Title/Abstract] AND TRMT10C [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
TgeneTRMT10C

GO:0080009

mRNA methylation

29072297

TgeneTRMT10C

GO:0097745

mitochondrial tRNA 5'-end processing

29040705

TgeneTRMT10C

GO:1990180

mitochondrial tRNA 3'-end processing

29040705


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
TCGALDBRCATCGA-BH-A0HW-01AEPHA6chr3

96706837

+TRMT10Cchr3

101283614

+
* 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-5UTRENST00000470610ENST00000309922EPHA6chr3

96706837

+TRMT10Cchr3

101283614

+
5CDS-5UTRENST00000389672ENST00000309922EPHA6chr3

96706837

+TRMT10Cchr3

101283614

+
5CDS-5UTRENST00000542517ENST00000309922EPHA6chr3

96706837

+TRMT10Cchr3

101283614

+
intron-5UTRENST00000514100ENST00000309922EPHA6chr3

96706837

+TRMT10Cchr3

101283614

+
intron-5UTRENST00000502694ENST00000309922EPHA6chr3

96706837

+TRMT10Cchr3

101283614

+
intron-5UTRENST00000442602ENST00000309922EPHA6chr3

96706837

+TRMT10Cchr3

101283614

+

Top

FusionProtFeatures for EPHA6_TRMT10C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EPHA6

Q9UF33

TRMT10C

Q7L0Y3

Receptor tyrosine kinase which binds promiscuously GPI-anchored ephrin-A family ligands residing on adjacent cells,leading to contact-dependent bidirectional signaling intoneighboring cells. The signaling pathway downstream of thereceptor is referred to as forward signaling while the signalingpathway downstream of the ephrin ligand is referred to as reversesignaling (By similarity). {ECO:0000250}. Mitochondrial tRNA N(1)-methyltransferase involved inmitochondrial tRNA maturation (PubMed:18984158, PubMed:21593607,PubMed:23042678, PubMed:27132592). Component of mitochondrialribonuclease P, a complex composed of TRMT10C/MRPP1,HSD17B10/MRPP2 and MRPP3, which cleaves tRNA molecules in their5'-ends (PubMed:18984158). Together with HSD17B10/MRPP2, forms asubcomplex of the mitochondrial ribonuclease P, named MRPP1-MRPP2subcomplex, which displays functions that are independent of theribonuclease P activity (PubMed:23042678, PubMed:29040705). TheMRPP1-MRPP2 subcomplex catalyzes the formation of N(1)-methylguanine and N(1)-methyladenine at position 9 (m1G9 and m1A9,respectively) in tRNAs; TRMT10C/MRPP1 acting as the catalyticN(1)-methyltransferase subunit (PubMed:23042678). The MRPP1-MRPP2subcomplex also acts as a tRNA maturation platform: following 5'-end cleavage by the mitochondrial ribonuclease P complex, theMRPP1-MRPP2 subcomplex enhances the efficiency of 3'-processingcatalyzed by ELAC2, retains the tRNA product after ELAC2processing and presents the nascent tRNA to the mitochondrial CCAtRNA nucleotidyltransferase TRNT1 enzyme (PubMed:29040705). Inaddition to tRNA N(1)-methyltransferase activity, TRMT10C/MRPP1also acts as a mRNA N(1)-methyltransferase by mediatingmethylation of adenosine residues at the N(1) position of MT-ND5mRNA (PubMed:29072297). {ECO:0000269|PubMed:18984158,ECO:0000269|PubMed:21593607, ECO:0000269|PubMed:23042678,ECO:0000269|PubMed:27132592, ECO:0000269|PubMed:29040705,ECO:0000269|PubMed:29072297}.

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 EPHA6_TRMT10C


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 EPHA6_TRMT10C


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
EPHA6GPHA2, PROC, DEFA5TRMT10CUSP39, HDGF, CUL3, CAND1, ASB1, GRSF1, CEP57, CEP76, TP53, EGFR, TRNI, ZZEF1, HECTD3, NTRK1, NOP56, POU5F1, CHCHD2, CISD3, C15orf48, TPTE, DUSP26, VWA5A, ELAC2, TRNT1, HSD17B10, DLD


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 EPHA6_TRMT10C


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 EPHA6_TRMT10C


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