FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 5088

FusionGeneSummary for C7orf50_FLNA

check button Fusion gene summary
Fusion gene informationFusion gene name: C7orf50_FLNA
Fusion gene ID: 5088
HgeneTgene
Gene symbol

C7orf50

FLNA

Gene ID

84310

2316

Gene namechromosome 7 open reading frame 50filamin A
SynonymsYCR016WABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD
Cytomap

7p22.3

Xq28

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein C7orf50filamin-Aactin binding protein 280alpha-filaminendothelial actin-binding proteinfilamin A, alphafilamin-1non-muscle filamin
Modification date2018051920180523
UniProtAcc

Q9BRJ6

P21333

Ensembl transtripts involved in fusion geneENST00000357429, ENST00000397100, 
ENST00000397098, ENST00000488073, 
ENST00000360319, ENST00000422373, 
ENST00000369850, ENST00000369856, 
ENST00000344736, ENST00000498491, 
Fusion gene scores* DoF score7 X 4 X 7=19613 X 18 X 3=702
# samples 1019
** MAII scorelog2(10/196*10)=-0.970853654340483
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: C7orf50 [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
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
ChiTaRS3.1BF871816C7orf50chr7

1106741

+FLNAchrX

153593247

-
* 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-3CDSENST00000357429ENST00000360319C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000357429ENST00000422373C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000357429ENST00000369850C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000357429ENST00000369856C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000357429ENST00000344736C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000357429ENST00000498491C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000397100ENST00000360319C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000397100ENST00000422373C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000397100ENST00000369850C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000397100ENST00000369856C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000397100ENST00000344736C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000397100ENST00000498491C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000397098ENST00000360319C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000397098ENST00000422373C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000397098ENST00000369850C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000397098ENST00000369856C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000397098ENST00000344736C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000397098ENST00000498491C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000488073ENST00000360319C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000488073ENST00000422373C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-3CDSENST00000488073ENST00000369850C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000488073ENST00000369856C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000488073ENST00000344736C7orf50chr7

1106741

+FLNAchrX

153593247

-
intron-intronENST00000488073ENST00000498491C7orf50chr7

1106741

+FLNAchrX

153593247

-

Top

FusionProtFeatures for C7orf50_FLNA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C7orf50

Q9BRJ6

FLNA

P21333

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


Top

FusionGeneSequence for C7orf50_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).

Top

FusionGenePPI for C7orf50_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


Top

RelatedDrugs for C7orf50_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

Top

RelatedDiseases for C7orf50_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