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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: 12483

FusionGeneSummary for FAM114A1_FRS2

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM114A1_FRS2
Fusion gene ID: 12483
HgeneTgene
Gene symbol

FAM114A1

FRS2

Gene ID

92689

10818

Gene namefamily with sequence similarity 114 member A1fibroblast growth factor receptor substrate 2
SynonymsNoxp20FRS1A|FRS2A|FRS2alpha|SNT|SNT-1|SNT1
Cytomap

4p14

12q15

Type of geneprotein-codingprotein-coding
Descriptionprotein NOXP20nervous system over-expressed protein 20fibroblast growth factor receptor substrate 2FGFR signalling adaptorFGFR substrate 2FGFR-signaling adaptor SNTsuc1-associated neurotrophic factor target 1
Modification date2018051920180522
UniProtAcc

Q8IWE2

Q8WU20

Ensembl transtripts involved in fusion geneENST00000515037, ENST00000358869, 
ENST00000513966, 
ENST00000299293, 
ENST00000549921, ENST00000550389, 
ENST00000397997, 
Fusion gene scores* DoF score8 X 7 X 6=33615 X 6 X 4=360
# samples 814
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/360*10)=-1.36257007938471
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM114A1 [Title/Abstract] AND FRS2 [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
TCGALDSARCTCGA-DX-A48N-01AFAM114A1chr4

38893451

+FRS2chr12

69924645

+
* 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-5UTRENST00000515037ENST00000299293FAM114A1chr4

38893451

+FRS2chr12

69924645

+
5UTR-5UTRENST00000515037ENST00000549921FAM114A1chr4

38893451

+FRS2chr12

69924645

+
5UTR-intronENST00000515037ENST00000550389FAM114A1chr4

38893451

+FRS2chr12

69924645

+
5UTR-5UTRENST00000515037ENST00000397997FAM114A1chr4

38893451

+FRS2chr12

69924645

+
5CDS-5UTRENST00000358869ENST00000299293FAM114A1chr4

38893451

+FRS2chr12

69924645

+
5CDS-5UTRENST00000358869ENST00000549921FAM114A1chr4

38893451

+FRS2chr12

69924645

+
5CDS-intronENST00000358869ENST00000550389FAM114A1chr4

38893451

+FRS2chr12

69924645

+
5CDS-5UTRENST00000358869ENST00000397997FAM114A1chr4

38893451

+FRS2chr12

69924645

+
intron-5UTRENST00000513966ENST00000299293FAM114A1chr4

38893451

+FRS2chr12

69924645

+
intron-5UTRENST00000513966ENST00000549921FAM114A1chr4

38893451

+FRS2chr12

69924645

+
intron-intronENST00000513966ENST00000550389FAM114A1chr4

38893451

+FRS2chr12

69924645

+
intron-5UTRENST00000513966ENST00000397997FAM114A1chr4

38893451

+FRS2chr12

69924645

+

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FusionProtFeatures for FAM114A1_FRS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM114A1

Q8IWE2

FRS2

Q8WU20

May play a role in neuronal cell development.{ECO:0000250}. 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}.

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 FAM114A1_FRS2


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 FAM114A1_FRS2


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
FAM114A1AKT1S1, FAF1, PPAT, TLN1, HSPA4, N4BP1, RSU1, SEC24D, TARS, THUMPD3, RAB2A, SPG21, AGTRAP, RAB2B, CMTM5, TENC1, MIRLET7A1FRS2PTPN11, INSR, SOS1, GRB2, CBL, FGFR1, CRK, NTRK1, NTRK2, NTRK3, RET, PRKCI, FGFR2, FLOT1, SORBS1, SPRY2, LYN, BECN1, RPS6, TMEM17, GAB1, GAB2, CDH1, 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 FAM114A1_FRS2


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 FAM114A1_FRS2


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