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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: 13892

FusionGeneSummary for FRMD4A_PLXDC2

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD4A_PLXDC2
Fusion gene ID: 13892
HgeneTgene
Gene symbol

FRMD4A

PLXDC2

Gene ID

55691

84898

Gene nameFERM domain containing 4Aplexin domain containing 2
SynonymsCCAFCA|FRMD4|bA295P9.4TEM7R
Cytomap

10p13

10p12.31

Type of geneprotein-codingprotein-coding
DescriptionFERM domain-containing protein 4AFERM domain containing 4plexin domain-containing protein 21200007L24Riktumor endothelial marker 7-related protein
Modification date2018051920180519
UniProtAcc

Q9P2Q2

Q6UX71

Ensembl transtripts involved in fusion geneENST00000358621, ENST00000357447, 
ENST00000378503, ENST00000342409, 
ENST00000493380, ENST00000475141, 
ENST00000492155, 		ENST00000377242, 
ENST00000377252, ENST00000377238, 
Fusion gene scores* DoF score6 X 4 X 5=1206 X 6 X 4=144
# samples 66
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/144*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRMD4A [Title/Abstract] AND PLXDC2 [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
TCGARVSKCMTCGA-EE-A2MS-06AFRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
* 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-3CDSENST00000358621ENST00000377242FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000358621ENST00000377252FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3UTRENST00000358621ENST00000377238FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000357447ENST00000377242FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000357447ENST00000377252FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3UTRENST00000357447ENST00000377238FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000378503ENST00000377242FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000378503ENST00000377252FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3UTRENST00000378503ENST00000377238FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
Frame-shiftENST00000342409ENST00000377242FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
Frame-shiftENST00000342409ENST00000377252FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
5CDS-3UTRENST00000342409ENST00000377238FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000493380ENST00000377242FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000493380ENST00000377252FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3UTRENST00000493380ENST00000377238FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000475141ENST00000377242FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000475141ENST00000377252FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3UTRENST00000475141ENST00000377238FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000492155ENST00000377242FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3CDSENST00000492155ENST00000377252FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+
intron-3UTRENST00000492155ENST00000377238FRMD4Achr10

14050059

-PLXDC2chr10

20465928

+

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FusionProtFeatures for FRMD4A_PLXDC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FRMD4A

Q9P2Q2

PLXDC2

Q6UX71

Scaffolding protein that regulates epithelial cellpolarity by connecting ARF6 activation with the PAR3 complex (Bysimilarity). Plays a redundant role with FRMD4B in epithelialpolarization (By similarity). May regulate MAPT secretion byactivating ARF6-signaling (PubMed:27044754).{ECO:0000250|UniProtKB:Q8BIE6, ECO:0000269|PubMed:27044754}. May play a role in tumor angiogenesis.{ECO:0000269|PubMed:11559528}.

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 FRMD4A_PLXDC2


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 FRMD4A_PLXDC2


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
FRMD4AHNRNPA1, TRAF3IP1, YEATS4, WDR83PLXDC2ZBP1, AKR1D1, AKR1C4, TMEM255B, NDUFA10, FAM9A, RARS2, LRRC42, UBR2, C1orf186, CLK1, TMEM199, CCDC115, ZFYVE27, INSL5, IGFBP1, SLC31A1, DHRS7, TTC17, SERPINB8, ATP6V1F, UFSP2, MANEAL, HACL1, UPK3BL, DNAJB9, TMEM131, KCNJ8, CTDNEP1


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 FRMD4A_PLXDC2


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 FRMD4A_PLXDC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFRMD4AC0236969Substance-Related Disorders1CTD_human