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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: 52

FusionGeneSummary for AARS_HYDIN

check button Fusion gene summary
Fusion gene informationFusion gene name: AARS_HYDIN
Fusion gene ID: 52
HgeneTgene
Gene symbol

AARS

HYDIN

Gene ID

16

54768

Gene namealanyl-tRNA synthetaseHYDIN, axonemal central pair apparatus protein
SynonymsCMT2N|EIEE29CILD5|HYDIN1|HYDIN2|PPP1R31
Cytomap

16q22.1

16q22.2

Type of geneprotein-codingprotein-coding
Descriptionalanine--tRNA ligase, cytoplasmicalaRSalanine tRNA ligase 1, cytoplasmicalanyl-tRNA synthetase, cytoplasmicrenal carcinoma antigen NY-REN-42hydrocephalus-inducing protein homologprotein phosphatase 1, regulatory subunit 31
Modification date2018052320180519
UniProtAcc

P49588

Q4G0P3

Ensembl transtripts involved in fusion geneENST00000261772, ENST00000564359, 
ENST00000393567, ENST00000448089, 
ENST00000448691, ENST00000321489, 
ENST00000538248, ENST00000541601, 
ENST00000288168, ENST00000393550, 
ENST00000543639, 
Fusion gene scores* DoF score9 X 10 X 4=3603 X 3 X 3=27
# samples 103
** MAII scorelog2(10/360*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AARS [Title/Abstract] AND HYDIN [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
ChiTaRS3.1BG829246AARSchr16

70323322

-HYDINchr16

70929985

-
* 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
5UTR-3CDSENST00000261772ENST00000393567AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000448089AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000448691AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000321489AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000538248AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000541601AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000288168AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000393550AARSchr16

70323322

-HYDINchr16

70929985

-
5UTR-intronENST00000261772ENST00000543639AARSchr16

70323322

-HYDINchr16

70929985

-
intron-3CDSENST00000564359ENST00000393567AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000448089AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000448691AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000321489AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000538248AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000541601AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000288168AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000393550AARSchr16

70323322

-HYDINchr16

70929985

-
intron-intronENST00000564359ENST00000543639AARSchr16

70323322

-HYDINchr16

70929985

-

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FusionProtFeatures for AARS_HYDIN


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

P49588

HYDIN

Q4G0P3

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}.

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_HYDIN


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_HYDIN


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
AARSSIRT7, CDK2, UBA1, IARS, GARS, NARS, LARS, ACTA2, DARS, ASNS, NSUN2, FARSB, QARS, HSP90AA1, HSP90AB1, VCAM1, FN1, ITGA4, ANKMY2, ARPC1B, CALU, HSF1, IPO11, METTL1, PPP2R5E, SAE1, STAT5B, TOM1L1, CACYBP, DPP8, DPP9, EEF2K, EIF4A3, NIF3L1, SRP9, TPD52, TPD52L2, WARS, ENO1, MOV10, NXF1, ABCE1, CIAPIN1, TARSL2, MSH2, NMD3, PDIA3, SBDS, STAT1, NTRK1, AURKB, MICU1, HSD17B10, SOD1, BRCA1HYDINUBC, ERRFI1


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_HYDIN


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_HYDIN


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
TgeneHYDINC0020255Hydrocephalus2CTD_human