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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: 54

FusionGeneSummary for AARS_LHFP

check button Fusion gene summary
Fusion gene informationFusion gene name: AARS_LHFP
Fusion gene ID: 54
HgeneTgene
Gene symbol

AARS

LHFP

Gene ID

16

Gene namealanyl-tRNA synthetase
SynonymsCMT2N|EIEE29
Cytomap

16q22.1

Type of geneprotein-coding
Descriptionalanine--tRNA ligase, cytoplasmicalaRSalanine tRNA ligase 1, cytoplasmicalanyl-tRNA synthetase, cytoplasmicrenal carcinoma antigen NY-REN-42
Modification date20180523
UniProtAcc

P49588

Ensembl transtripts involved in fusion geneENST00000261772, ENST00000564359, 
ENST00000379589, ENST00000495922, 
Fusion gene scores* DoF score9 X 10 X 4=3609 X 7 X 4=252
# samples 109
** MAII scorelog2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/252*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AARS [Title/Abstract] AND LHFP [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
HgeneAARS

GO:0006419

alanyl-tRNA aminoacylation

27622773|28493438


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
ChiTaRS3.1BF929009AARSchr16

70298990

+LHFPchr13

40110808

+
* 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
intron-intronENST00000261772ENST00000379589AARSchr16

70298990

+LHFPchr13

40110808

+
intron-intronENST00000261772ENST00000495922AARSchr16

70298990

+LHFPchr13

40110808

+
intron-intronENST00000564359ENST00000379589AARSchr16

70298990

+LHFPchr13

40110808

+
intron-intronENST00000564359ENST00000495922AARSchr16

70298990

+LHFPchr13

40110808

+

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FusionProtFeatures for AARS_LHFP


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

P49588

LHFP

Catalyzes the attachment of alanine to tRNA(Ala) in atwo-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala)(PubMed:27622773, PubMed:27911835, PubMed:28493438). Also editsincorrectly charged tRNA(Ala) via its editing domain(PubMed:27622773, PubMed:27911835, PubMed:28493438).{ECO:0000255|HAMAP-Rule:MF_03133, ECO:0000269|PubMed:27622773,ECO:0000269|PubMed:27911835, ECO:0000269|PubMed:28493438}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 AARS_LHFP


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 AARS_LHFP


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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RelatedDrugs for AARS_LHFP


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 AARS_LHFP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAARSC2750090Charcot-Marie-Tooth Disease, Axonal, Type 2n3CTD_human;ORPHANET;UNIPROT
HgeneAARSC4225361EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 291UNIPROT