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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: 12962

FusionGeneSummary for FARS2_RIPK1

check button Fusion gene summary
Fusion gene informationFusion gene name: FARS2_RIPK1
Fusion gene ID: 12962
HgeneTgene
Gene symbol

FARS2

RIPK1

Gene ID

10667

8737

Gene namephenylalanyl-tRNA synthetase 2, mitochondrialreceptor interacting serine/threonine kinase 1
SynonymsCOXPD14|FARS1|HSPC320|PheRS|SPG77RIP|RIP-1|RIP1
Cytomap

6p25.1

6p25.2

Type of geneprotein-codingprotein-coding
Descriptionphenylalanine--tRNA ligase, mitochondrialdJ236A3.1 (phenylalanine-tRNA synthetase)dJ520B18.2 (FARS1 (phenylalanine-tRNA synthetase))mitochondrial PHERSphenylalanine tRNA ligase 2, mitochondrialphenylalanine translasephenylalanine-tRNA synthetase 1 (receptor-interacting serine/threonine-protein kinase 1cell death protein RIPreceptor (TNFRSF)-interacting serine-threonine kinase 1receptor-interacting protein 1receptor-interacting protein kinase 1serine/threonine-protein kinase RIP
Modification date2018052320180523
UniProtAcc

O95363

Q13546

Ensembl transtripts involved in fusion geneENST00000324331, ENST00000274680, 
ENST00000479389, ENST00000259808, 
ENST00000541791, ENST00000380409, 
Fusion gene scores* DoF score13 X 7 X 10=9102 X 2 X 2=8
# samples 142
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: FARS2 [Title/Abstract] AND RIPK1 [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
HgeneFARS2

GO:0006432

phenylalanyl-tRNA aminoacylation

10329163

HgeneFARS2

GO:0008033

tRNA processing

10329163

TgeneRIPK1

GO:0032757

positive regulation of interleukin-8 production

16127453

TgeneRIPK1

GO:0032760

positive regulation of tumor necrosis factor production

16127453

TgeneRIPK1

GO:0036289

peptidyl-serine autophosphorylation

23473668

TgeneRIPK1

GO:0043065

positive regulation of apoptotic process

8612133|17389591

TgeneRIPK1

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

17389591

TgeneRIPK1

GO:0044257

cellular protein catabolic process

17389591

TgeneRIPK1

GO:0045944

positive regulation of transcription by RNA polymerase II

16127453|17389591

TgeneRIPK1

GO:0046330

positive regulation of JNK cascade

17389591

TgeneRIPK1

GO:0046777

protein autophosphorylation

8612133

TgeneRIPK1

GO:0051260

protein homooligomerization

22817896

TgeneRIPK1

GO:0071356

cellular response to tumor necrosis factor

17389591

TgeneRIPK1

GO:0097191

extrinsic apoptotic signaling pathway

7538908


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
TCGARVPRADTCGA-YJ-A8SW-01AFARS2chr6

5545573

+RIPK1chr6

3076998

+
* 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-intronENST00000324331ENST00000479389FARS2chr6

5545573

+RIPK1chr6

3076998

+
5CDS-5UTRENST00000324331ENST00000259808FARS2chr6

5545573

+RIPK1chr6

3076998

+
5CDS-intronENST00000324331ENST00000541791FARS2chr6

5545573

+RIPK1chr6

3076998

+
5CDS-intronENST00000324331ENST00000380409FARS2chr6

5545573

+RIPK1chr6

3076998

+
5CDS-intronENST00000274680ENST00000479389FARS2chr6

5545573

+RIPK1chr6

3076998

+
5CDS-5UTRENST00000274680ENST00000259808FARS2chr6

5545573

+RIPK1chr6

3076998

+
5CDS-intronENST00000274680ENST00000541791FARS2chr6

5545573

+RIPK1chr6

3076998

+
5CDS-intronENST00000274680ENST00000380409FARS2chr6

5545573

+RIPK1chr6

3076998

+

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FusionProtFeatures for FARS2_RIPK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FARS2

O95363

RIPK1

Q13546

Is responsible for the charging of tRNA(Phe) withphenylalanine in mitochondrial translation. To a lesser extent,also catalyzes direct attachment of m-Tyr (an oxidized version ofPhe) to tRNA(Phe), thereby opening the way for delivery of themisacylated tRNA to the ribosome and incorporation of ROS-damagedamino acid into proteins. {ECO:0000269|PubMed:19549855,ECO:0000269|PubMed:22833457}. Serine-threonine kinase which transduces inflammatoryand cell-death signals (programmed necrosis) following deathreceptors ligation, activation of pathogen recognition receptors(PRRs), and DNA damage. Upon activation of TNFR1 by the TNF-alphafamily cytokines, TRADD and TRAF2 are recruited to the receptor.Phosphorylates DAB2IP at 'Ser-728' in a TNF-alpha-dependentmanner, and thereby activates the MAP3K5-JNK apoptotic cascade.Ubiquitination by TRAF2 via 'Lys-63'-link chains acts as acritical enhancer of communication with downstream signaltransducers in the mitogen-activated protein kinase pathway andthe NF-kappa-B pathway, which in turn mediate downstream eventsincluding the activation of genes encoding inflammatory molecules.Polyubiquitinated protein binds to IKBKG/NEMO, the regulatorysubunit of the IKK complex, a critical event for NF-kappa-Bactivation. Interaction with other cellular RHIM-containingadapters initiates gene activation and cell death. RIPK1 and RIPK3association, in particular, forms a necrosis-inducing complex.{ECO:0000269|PubMed:11101870, ECO:0000269|PubMed:17389591,ECO:0000269|PubMed:19524512, ECO:0000269|PubMed:19524513}.

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 FARS2_RIPK1


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 FARS2_RIPK1


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
FARS2USP45, G3BP2, ICT1, ISG15, CUL3, RCBTB2, KRT13, KRT31, TRIM27, TADA2A, TFCP2, MKRN3, STX11, CALCOCO2, MID2, IKZF3, APPL1, ADAMTSL4, AGTRAP, TRIM54, HMBOX1, CMTM5, KRT40, KRTAP10-7, KRTAP10-9, KRTAP10-5, KRTAP10-3, NOTCH2NL, ENO1, SHMT2, NXF1, HIST1H1A, ZC3H3, HNRNPA1, GAMT, STAT5A, TOMM40, CHST15, NEDD1, CHCHD2, MRPL38, HIST1H1E, HIST1H1T, ZCRB1RIPK1RIPK3, TICAM1, TRPC4AP, FAS, CRADD, TRAF2, FADD, RNF216, TNFRSF1A, TNFRSF10B, IKBKG, TRAF5, CFLAR, SQSTM1, CASP8, CASP10, EGFR, MAP3K14, TRADD, TRAF1, TRAF3, RNF11, TNFAIP3, TAX1BP1, ITCH, BIRC2, BIRC3, MAP3K7, TAB2, CYLD, HSP90AA1, PIDD1, CDC42BPB, TNF, USP21, PELI1, OPTN, XIAP, KHDRBS1, USP2, TNFRSF25, NOD2, RIPK2, IKBKB, RBCK1, USP4, TLR3, CCDC50, UBE2N, CLIP3, MAP3K3, DAB2IP, TNFRSF1B, RIPK1, ANXA1, CHUK, LRRK2, TNFSF10, MAP3K8, NUMBL, YOD1, OTUD1, RFFL, PYCARD, UBC, MLF1, NTAN1, FGL1, HERC2, AP1M2, XPO1, EGLN3, RNF31, ERN1, TRIM27, MLKL, ATG7, GPX7, THSD4, XAF1


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 FARS2_RIPK1


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 FARS2_RIPK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFARS2C3554168COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 142ORPHANET;UNIPROT