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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: 12960

FusionGeneSummary for FARS2_PHACTR1

check button Fusion gene summary
Fusion gene informationFusion gene name: FARS2_PHACTR1
Fusion gene ID: 12960
HgeneTgene
Gene symbol

FARS2

PHACTR1

Gene ID

10667

221692

Gene namephenylalanyl-tRNA synthetase 2, mitochondrialphosphatase and actin regulator 1
SynonymsCOXPD14|FARS1|HSPC320|PheRS|SPG77RPEL|RPEL1|dJ257A7.2
Cytomap

6p25.1

6p24.1

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 (phosphatase and actin regulator 1RPEL repeat containing 1
Modification date2018052320180519
UniProtAcc

O95363

Q9C0D0

Ensembl transtripts involved in fusion geneENST00000324331, ENST00000274680, 
ENST00000379350, ENST00000379348, 
ENST00000332995, ENST00000482982, 
ENST00000379345, ENST00000457702, 
ENST00000379335, ENST00000379329, 
Fusion gene scores* DoF score13 X 7 X 10=9109 X 8 X 8=576
# samples 1410
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/576*10)=-2.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FARS2 [Title/Abstract] AND PHACTR1 [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


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
TCGARVHNSCTCGA-CV-6935-01AFARS2chr6

5613553

+PHACTR1chr6

12718931

+
* 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-5UTRENST00000324331ENST00000379350FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-5UTRENST00000324331ENST00000379348FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000324331ENST00000332995FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000324331ENST00000482982FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000324331ENST00000379345FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000324331ENST00000457702FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000324331ENST00000379335FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000324331ENST00000379329FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-5UTRENST00000274680ENST00000379350FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-5UTRENST00000274680ENST00000379348FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000274680ENST00000332995FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000274680ENST00000482982FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000274680ENST00000379345FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000274680ENST00000457702FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000274680ENST00000379335FARS2chr6

5613553

+PHACTR1chr6

12718931

+
5CDS-intronENST00000274680ENST00000379329FARS2chr6

5613553

+PHACTR1chr6

12718931

+

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FusionProtFeatures for FARS2_PHACTR1


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

O95363

PHACTR1

Q9C0D0

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}. Binds actin monomers (G actin) and plays a role in thereorganization of the actin cytoskeleton and in formation of actinstress fibers. Plays a role in cell motility. Plays a role in theformation of tubules by endothelial cells. Regulates PPP1CAactivity. Required for normal cell survival.{ECO:0000269|PubMed:21798305, ECO:0000269|PubMed:21939755}.

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_PHACTR1


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_PHACTR1


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, ZCRB1PHACTR1ACTA1, PPP1CA, TRIM25


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_PHACTR1


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_PHACTR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFARS2C3554168COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 142ORPHANET;UNIPROT
TgenePHACTR1C1956346Coronary Artery Disease3CTD_human
TgenePHACTR1C0027051Myocardial Infarction2CTD_human
TgenePHACTR1C0338480Common Migraine1CTD_human