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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: 31029

FusionGeneSummary for RFFL_FLNA

check button Fusion gene summary
Fusion gene informationFusion gene name: RFFL_FLNA
Fusion gene ID: 31029
HgeneTgene
Gene symbol

RFFL

FLNA

Gene ID

117584

2316

Gene namering finger and FYVE like domain containing E3 ubiquitin protein ligasefilamin A
SynonymsCARP-2|CARP2|FRING|RIFIFYLIN|RNF189|RNF34LABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD
Cytomap

17q12

Xq28

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase rififylinFYVE-RING finger protein SAKURARING finger and FYVE-like domain-containing protein 1RING finger protein 189RING-type E3 ubiquitin transferase rififylincaspase 8 and 10 associated RING protein-2caspase regulator Cfilamin-Aactin binding protein 280alpha-filaminendothelial actin-binding proteinfilamin A, alphafilamin-1non-muscle filamin
Modification date2018051920180523
UniProtAcc

Q8WZ73

P21333

Ensembl transtripts involved in fusion geneENST00000315249, ENST00000580569, 
ENST00000268850, ENST00000378516, 
ENST00000584655, ENST00000394597, 
ENST00000447669, ENST00000415395, 
ENST00000413582, 		ENST00000360319, 
ENST00000422373, ENST00000369850, 
ENST00000369856, ENST00000344736, 
ENST00000498491, 
Fusion gene scores* DoF score5 X 4 X 3=6013 X 18 X 3=702
# samples 519
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/702*10)=-1.88547161197361
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RFFL [Title/Abstract] AND FLNA [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
HgeneRFFL

GO:0006511

ubiquitin-dependent protein catabolic process

15069192

HgeneRFFL

GO:0070936

protein K48-linked ubiquitination

18450452|22609986

TgeneFLNA

GO:0016479

negative regulation of transcription by RNA polymerase I

22307607

TgeneFLNA

GO:0030334

regulation of cell migration

16291724

TgeneFLNA

GO:0031532

actin cytoskeleton reorganization

10051605

TgeneFLNA

GO:0034394

protein localization to cell surface

18322202

TgeneFLNA

GO:0043113

receptor clustering

10692483

TgeneFLNA

GO:0043433

negative regulation of DNA binding transcription factor activity

15684392

TgeneFLNA

GO:0044319

wound healing, spreading of cells

16291724

TgeneFLNA

GO:0045184

establishment of protein localization

18322202

TgeneFLNA

GO:0051764

actin crosslink formation

10051605

TgeneFLNA

GO:0072659

protein localization to plasma membrane

24951510

TgeneFLNA

GO:0090307

mitotic spindle assembly

18548008

TgeneFLNA

GO:1901381

positive regulation of potassium ion transmembrane transport

24951510


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
ChiTaRS3.1T12127RFFLchr17

33337080

-FLNAchrX

153577863

+
* 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-3CDSENST00000315249ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000315249ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000315249ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000315249ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000315249ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000315249ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000580569ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000580569ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000580569ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000580569ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000580569ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000580569ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000268850ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000268850ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000268850ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000268850ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000268850ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000268850ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000378516ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000378516ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000378516ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000378516ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000378516ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000378516ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000584655ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000584655ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000584655ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000584655ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000584655ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000584655ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000394597ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000394597ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000394597ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000394597ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000394597ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000394597ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000447669ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000447669ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000447669ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000447669ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000447669ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000447669ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000415395ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000415395ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000415395ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000415395ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000415395ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000415395ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000413582ENST00000360319RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000413582ENST00000422373RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000413582ENST00000369850RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000413582ENST00000369856RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-3CDSENST00000413582ENST00000344736RFFLchr17

33337080

-FLNAchrX

153577863

+
intron-5UTRENST00000413582ENST00000498491RFFLchr17

33337080

-FLNAchrX

153577863

+

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FusionProtFeatures for RFFL_FLNA


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

Q8WZ73

FLNA

P21333

E3 ubiquitin-protein ligase that regulates severalbiological processes through the ubiquitin-mediated proteasomaldegradation of various target proteins. Mediates 'Lys-48'-linkedpolyubiquitination of PRR5L and its subsequent proteasomaldegradation thereby indirectly regulating cell migration throughthe mTORC2 complex. Ubiquitinates the caspases CASP8 and CASP10,promoting their proteasomal degradation, to negatively regulatecell death downstream of death domain receptors in the extrinsicpathway of apoptosis. Negatively regulates the tumor necrosisfactor-mediated signaling pathway through targeting of RIPK1 toubiquitin-mediated proteasomal degradation. Negatively regulatesp53/TP53 through its direct ubiquitination and targeting toproteasomal degradation. Indirectly, may also negatively regulatep53/TP53 through ubiquitination and degradation of SFN. May alsoplay a role in endocytic recycling. {ECO:0000269|PubMed:15069192,ECO:0000269|PubMed:17121812, ECO:0000269|PubMed:18382127,ECO:0000269|PubMed:18450452, ECO:0000269|PubMed:22609986}. Promotes orthogonal branching of actin filaments andlinks actin filaments to membrane glycoproteins. Anchors varioustransmembrane proteins to the actin cytoskeleton and serves as ascaffold for a wide range of cytoplasmic signaling proteins.Interaction with FLNA may allow neuroblast migration from theventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directsits intracellular trafficking (By similarity). Involved inciliogenesis. Plays a role in cell-cell contacts and adherensjunctions during the development of blood vessels, heart and brainorgans. Plays a role in platelets morphology through interactionwith SYK that regulates ITAM- and ITAM-like-containing receptorsignaling, resulting in by platelet cytoskeleton organizationmaintenance (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:Q8BTM8, ECO:0000269|PubMed:22121117}.

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 RFFL_FLNA


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 RFFL_FLNA


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


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 RFFL_FLNA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneFLNAP21333DB11638ArtenimolFilamin-Asmall moleculeapproved|investigational

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RelatedDiseases for RFFL_FLNA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFLNAC1848213Periventricular Heterotopia, X-Linked6UNIPROT
TgeneFLNAC0265251Oto-Palato-digital syndrome type 14CTD_human;ORPHANET;UNIPROT
TgeneFLNAC0265293Frontometaphyseal dysplasia4CTD_human;ORPHANET;UNIPROT
TgeneFLNAC1844696OTOPALATODIGITAL SYNDROME, TYPE II4CTD_human;ORPHANET;UNIPROT
TgeneFLNAC0025237Melnick-Needles Syndrome3ORPHANET;UNIPROT
TgeneFLNAC1868720Periventricular Nodular Heterotopia2CTD_human;ORPHANET
TgeneFLNAC0010701Phyllodes Tumor1CTD_human
TgeneFLNAC0014544Epilepsy1CTD_human;HPO
TgeneFLNAC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneFLNAC0029422Osteochondrodysplasias1CTD_human;HPO
TgeneFLNAC0220769FG syndrome1CTD_human
TgeneFLNAC0262436Cardiac valvular dysplasia, X-linked1CTD_human;UNIPROT
TgeneFLNAC1458155Mammary Neoplasms1CTD_human
TgeneFLNAC1845235Heterotopia, Periventricular, Ehlers-Danlos Variant1CTD_human
TgeneFLNAC1845902FG SYNDROME 21UNIPROT