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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: 13930

FusionGeneSummary for FRS2_AVIL

check button Fusion gene summary
Fusion gene informationFusion gene name: FRS2_AVIL
Fusion gene ID: 13930
HgeneTgene
Gene symbol

FRS2

AVIL

Gene ID

10818

10677

Gene namefibroblast growth factor receptor substrate 2advillin
SynonymsFRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1ADVIL|DOC6|p92
Cytomap

12q15

12q14.1

Type of geneprotein-codingprotein-coding
Descriptionfibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTsuc1-associated neurotrophic factor target 1advillin
Modification date2018052220180519
UniProtAcc

Q8WU20

O75366

Ensembl transtripts involved in fusion geneENST00000299293, ENST00000549921, 
ENST00000550389, ENST00000397997, 
ENST00000537081, ENST00000257861, 
ENST00000550083, 
Fusion gene scores* DoF score56 X 9 X 12=604815 X 10 X 6=900
# samples 4716
** MAII scorelog2(47/6048*10)=-3.68572547765607
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/900*10)=-2.49185309632967
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRS2 [Title/Abstract] AND AVIL [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

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
TCGARVSARCTCGA-3B-A9HO-01AFRS2chr12

69931763

+AVILchr12

58193703

-
* 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-3CDSENST00000299293ENST00000537081FRS2chr12

69931763

+AVILchr12

58193703

-
5UTR-3CDSENST00000299293ENST00000257861FRS2chr12

69931763

+AVILchr12

58193703

-
5UTR-intronENST00000299293ENST00000550083FRS2chr12

69931763

+AVILchr12

58193703

-
intron-3CDSENST00000549921ENST00000537081FRS2chr12

69931763

+AVILchr12

58193703

-
intron-3CDSENST00000549921ENST00000257861FRS2chr12

69931763

+AVILchr12

58193703

-
intron-intronENST00000549921ENST00000550083FRS2chr12

69931763

+AVILchr12

58193703

-
intron-3CDSENST00000550389ENST00000537081FRS2chr12

69931763

+AVILchr12

58193703

-
intron-3CDSENST00000550389ENST00000257861FRS2chr12

69931763

+AVILchr12

58193703

-
intron-intronENST00000550389ENST00000550083FRS2chr12

69931763

+AVILchr12

58193703

-
intron-3CDSENST00000397997ENST00000537081FRS2chr12

69931763

+AVILchr12

58193703

-
intron-3CDSENST00000397997ENST00000257861FRS2chr12

69931763

+AVILchr12

58193703

-
intron-intronENST00000397997ENST00000550083FRS2chr12

69931763

+AVILchr12

58193703

-

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FusionProtFeatures for FRS2_AVIL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FRS2

Q8WU20

AVIL

O75366

Adapter protein that links activated FGR and NGFreceptors to downstream signaling pathways. Plays an importantrole in the activation of MAP kinases and in the phosphorylationof PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, in response to ligand-mediated activation of FGFR1.Modulates signaling via SHC1 by competing for a common bindingsite on NTRK1. {ECO:0000269|PubMed:12974390,ECO:0000269|PubMed:21765395}. Ca(2+)-regulated actin-binding protein. May have aunique function in the morphogenesis of neuronal cells which formganglia. Required for SREC1-mediated regulation of neurite-likeoutgrowth. Plays a role in regenerative sensory axon outgrowth andremodeling processes after peripheral injury in neonates. Involvedin the formation of long fine actin-containing filopodia-likestructures in fibroblast. Plays a role in ciliogenesis.{ECO:0000269|PubMed:20393563}.

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 FRS2_AVIL


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 FRS2_AVIL


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
FRS2PTPN11, INSR, SOS1, GRB2, CBL, FGFR1, CRK, NTRK1, NTRK2, NTRK3, RET, PRKCI, FGFR2, FLOT1, SORBS1, SPRY2, LYN, BECN1, RPS6, TMEM17, GAB1, GAB2, CDH1, TRIM25AVILCRK, RBSN, DDX11, DUS3L, FIGNL1, SCYL1, DOCK7, VIL1, TMOD2, RICTOR, RIPK4, DCTN6, MCM8, THUMPD3, BRIP1, MYO5C, ALMS1, MYO1F, TUBA4A, TUBB8, MYO1B, MYO5A, USP47, C14orf80, TUBB3, DDX11L8, WDR59, BBS1


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 FRS2_AVIL


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 FRS2_AVIL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource