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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: 791

FusionGeneSummary for ADAT1_KARS

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAT1_KARS
Fusion gene ID: 791
HgeneTgene
Gene symbol

ADAT1

KARS

Gene ID

23536

3735

Gene nameadenosine deaminase, tRNA specific 1lysyl-tRNA synthetase
SynonymsHADAT1CMTRIB|DFNB89|KARS1|KARS2|KRS
Cytomap

16q23.1

16q23.1

Type of geneprotein-codingprotein-coding
DescriptiontRNA-specific adenosine deaminase 1adenosine deaminase acting on tRNAtRNA-specific adenosine-37 deaminaselysine--tRNA ligaselysRSlysine tRNA ligase
Modification date2018051920180519
UniProtAcc

Q9BUB4

Q15046

Ensembl transtripts involved in fusion geneENST00000568478, ENST00000307921, 
ENST00000319410, ENST00000302445, 
ENST00000568378, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 5 X 3=75
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADAT1 [Title/Abstract] AND KARS [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
TgeneKARS

GO:0000187

activation of MAPK activity

15851690

TgeneKARS

GO:0002741

positive regulation of cytokine secretion involved in immune response

15851690

TgeneKARS

GO:0006430

lysyl-tRNA aminoacylation

9278442|10952987|23159739

TgeneKARS

GO:0008285

negative regulation of cell proliferation

15851690

TgeneKARS

GO:0010759

positive regulation of macrophage chemotaxis

15851690

TgeneKARS

GO:0015966

diadenosine tetraphosphate biosynthetic process

23159739

TgeneKARS

GO:0033209

tumor necrosis factor-mediated signaling pathway

15851690

TgeneKARS

GO:0043032

positive regulation of macrophage activation

15851690

TgeneKARS

GO:0070374

positive regulation of ERK1 and ERK2 cascade

15851690

TgeneKARS

GO:1900017

positive regulation of cytokine production involved in inflammatory response

15851690

TgeneKARS

GO:1900745

positive regulation of p38MAPK cascade

15851690

TgeneKARS

GO:1905050

positive regulation of metallopeptidase activity

15851690


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
TCGARVLUSCTCGA-56-8626-01AADAT1chr16

75654529

-KARSchr16

75678360

-
* 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-5UTRENST00000568478ENST00000319410ADAT1chr16

75654529

-KARSchr16

75678360

-
intron-intronENST00000568478ENST00000302445ADAT1chr16

75654529

-KARSchr16

75678360

-
intron-5UTRENST00000568478ENST00000568378ADAT1chr16

75654529

-KARSchr16

75678360

-
5CDS-5UTRENST00000307921ENST00000319410ADAT1chr16

75654529

-KARSchr16

75678360

-
5CDS-intronENST00000307921ENST00000302445ADAT1chr16

75654529

-KARSchr16

75678360

-
5CDS-5UTRENST00000307921ENST00000568378ADAT1chr16

75654529

-KARSchr16

75678360

-

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FusionProtFeatures for ADAT1_KARS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADAT1

Q9BUB4

KARS

Q15046

Specifically deaminates adenosine-37 to inosine in tRNA-Ala. Catalyzes the specific attachment of an amino acid toits cognate tRNA in a 2 step reaction: the amino acid (AA) isfirst activated by ATP to form AA-AMP and then transferred to theacceptor end of the tRNA (PubMed:9278442, PubMed:18029264,PubMed:18272479). When secreted, acts as a signaling molecule thatinduces immune response through the activation ofmonocyte/macrophages (PubMed:15851690). Catalyzes the synthesis ofthe signaling molecule diadenosine tetraphosphate (Ap4A), andthereby mediates disruption of the complex between HINT1 and MITFand the concomitant activation of MITF transcriptional activity(PubMed:5338216, PubMed:14975237, PubMed:19524539,PubMed:23159739). {ECO:0000269|PubMed:14975237,ECO:0000269|PubMed:15851690, ECO:0000269|PubMed:18029264,ECO:0000269|PubMed:19524539, ECO:0000269|PubMed:28887846,ECO:0000269|PubMed:5338216, ECO:0000269|PubMed:9278442}. (Microbial infection) Interacts with HIV-1 virus GAGprotein, facilitating the selective packaging of tRNA(3)(Lys), theprimer for reverse transcription initiation.{ECO:0000269|PubMed:15220430}.

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 ADAT1_KARS


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 ADAT1_KARS


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
ADAT1ELAVL1, MOV10, NXF1, TRIM25KARSAIMP2, PAFAH1B1, SLC25A6, EEF1G, DARS2, ICT1, PSMA3, GAPDH, PIK3R3, VIM, SIRT7, RPSA, EPRS, MAPK1, CUL1, COPS5, AIMP1, IARS, LARS, QARS, RARS, DARS, MARS, EEF1E1, UBA1, NARS, VBP1, UBE2S, TXLNA, TRMT1, MRPS18B, CCT8, HMGCS1, FN1, FBXO6, SH3RF2, CARS, IPO7, APEH, CAND1, GPX1, HSPA4, JMJD6, NAP1L4, NUDC, RANBP6, RPL17, RPL19, RPL21, RPL36, SSB, STAT1, MDM2, ABCE1, ESR1, CIAPIN1, MSH3, SAMD9, SNX8, XPNPEP1, NTRK1, KRAS, MED4, MED23, PPME1, PKN2, MCM2, OTUB1, C1orf131, CDC73, PPM1B, TARSL2, SDCCAG8, LRRFIP2, SPTAN1, NR3C1, AR, OFD1, CYLD, HSD17B10, BRCA1


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 ADAT1_KARS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneKARSQ15046DB00123L-LysineLysine--tRNA ligasesmall moleculeapproved|nutraceutical

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RelatedDiseases for ADAT1_KARS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKARSC3150897CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B1CTD_human;ORPHANET;UNIPROT
TgeneKARSC3151351DEAFNESS, AUTOSOMAL RECESSIVE 891UNIPROT