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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: 13579

FusionGeneSummary for FLNC_COL3A1

check button Fusion gene summary
Fusion gene informationFusion gene name: FLNC_COL3A1
Fusion gene ID: 13579
HgeneTgene
Gene symbol

FLNC

COL3A1

Gene ID

2318

1281

Gene namefilamin Ccollagen type III alpha 1 chain
SynonymsABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5EDS4A|EDSVASC
Cytomap

7q32.1

2q32.2

Type of geneprotein-codingprotein-coding
Descriptionfilamin-CABP-280-like proteinABP-L, gamma filaminactin binding protein 280filamin C, gammafilamin-2gamma filamincollagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1
Modification date2018052220180523
UniProtAcc

Q14315

P02461

Ensembl transtripts involved in fusion geneENST00000325888, ENST00000346177, 
ENST00000304636, ENST00000317840, 
Fusion gene scores* DoF score1 X 1 X 1=113 X 17 X 4=884
# samples 117
** MAII scorelog2(1/1*10)=3.32192809488736log2(17/884*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FLNC [Title/Abstract] AND COL3A1 [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
TgeneCOL3A1

GO:0007160

cell-matrix adhesion

16912226

TgeneCOL3A1

GO:0007179

transforming growth factor beta receptor signaling pathway

16360482

TgeneCOL3A1

GO:0009314

response to radiation

14736764

TgeneCOL3A1

GO:0018149

peptide cross-linking

16754721

TgeneCOL3A1

GO:0034097

response to cytokine

9076960|16360482

TgeneCOL3A1

GO:0042060

wound healing

1466622


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-HB-A3YV-01AFLNCchr7

128482752

+COL3A1chr2

189871071

+
* 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
Frame-shiftENST00000325888ENST00000304636FLNCchr7

128482752

+COL3A1chr2

189871071

+
5CDS-intronENST00000325888ENST00000317840FLNCchr7

128482752

+COL3A1chr2

189871071

+
Frame-shiftENST00000346177ENST00000304636FLNCchr7

128482752

+COL3A1chr2

189871071

+
5CDS-intronENST00000346177ENST00000317840FLNCchr7

128482752

+COL3A1chr2

189871071

+

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FusionProtFeatures for FLNC_COL3A1


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

Q14315

COL3A1

P02461

Muscle-specific filamin, which plays a central role inmuscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actincytoskeleton in response to signaling events, and may also displaystructural functions at the Z lines in muscle cells. Critical fornormal myogenesis and for maintaining the structural integrity ofthe muscle fibers.

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 FLNC_COL3A1


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 FLNC_COL3A1


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
FLNCMAP2K4, CAPN3, SGCD, SGCG, MYOZ1, KCND2, MYOZ2, MYOZ3, PHLDB2, MYOT, INPPL1, OTUD1, OTUD4, USP53, USP25, CAMKK2, RASSF5, WIPI2, WNK1, SIRT7, PRKAB2, TRIM54, CUL3, CDK2, FBXL22, DYNLRB1, EEF1G, NUP133, DYNC1H1, ENO1, SAP30BP, DDB1, SRSF9, SF3A3, DCTN1, EEF1D, FN1, VCAM1, TP63, IQCB1, IGSF8, NPM1, RPS6KA2, ANKRD28, AP3S1, ARFGEF2, CTTNBP2NL, FLNB, KCMF1, NCAPD2, IKBKB, NUP88, PSMD12, PSMD13, PSMD3, TXNL1, XIRP2, XIRP1, SYNPO2, TRIM63, TRIM55, RAPGEF2, OBSL1, FBXW11, TNFAIP1, SNX24, ERI2, KCTD13, CARD8, DVL1, PIP5K1A, NAT8L, HSPB2, FOXF1, MCM2, MCM5, CDC73, ATOH1, HSPB7, RAB8B, NUAK2, GNG3, NT5C, PLEKHO1, FRYL, OFCC1, PAX4, C6orf141, MFN1, PSMC4, SMOX, RAPGEF5, CYLD, BRCA1, TESCOL3A1SPARC, THBS1, MAG, SP1, CAND1, MYOC, PDGFA, PDGFB, ERAL1


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 FLNC_COL3A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCOL3A1P02461DB00048Collagenase clostridium histolyticumCollagen alpha-1(III) chainbiotechapproved|investigational

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RelatedDiseases for FLNC_COL3A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFLNCC0009404Colorectal Neoplasms1CTD_human
HgeneFLNCC3279722MYOPATHY, DISTAL, 41ORPHANET;UNIPROT
TgeneCOL3A1C0268338Ehlers-Danlos Syndrome, Type IV23ORPHANET;UNIPROT
TgeneCOL3A1C0023890Liver Cirrhosis5CTD_human
TgeneCOL3A1C0023893Liver Cirrhosis, Experimental2CTD_human
TgeneCOL3A1C1853365AORTIC ANEURYSM, FAMILIAL ABDOMINAL 12ORPHANET;UNIPROT
TgeneCOL3A1C0003504Aortic Valve Insufficiency1CTD_human
TgeneCOL3A1C0015695Fatty Liver1CTD_human
TgeneCOL3A1C0016059Fibrosis1CTD_human
TgeneCOL3A1C0020443Hypercholesterolemia1CTD_human
TgeneCOL3A1C0020456Hyperglycemia1CTD_human
TgeneCOL3A1C0020459Hyperinsulinism1CTD_human
TgeneCOL3A1C0020538Hypertensive disease1CTD_human
TgeneCOL3A1C0022548Keloid1CTD_human
TgeneCOL3A1C0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneCOL3A1C0023895Liver diseases1CTD_human
TgeneCOL3A1C0034069Pulmonary Fibrosis1CTD_human
TgeneCOL3A1C0036341Schizophrenia1CTD_human
TgeneCOL3A1C0041956Ureteral obstruction1CTD_human
TgeneCOL3A1C0149721Left Ventricular Hypertrophy1CTD_human
TgeneCOL3A1C0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
TgeneCOL3A1C0268337Ehlers-Danlos syndrome, type 3 (disorder)1CTD_human;UNIPROT
TgeneCOL3A1C0553980Endomyocardial Fibrosis1CTD_human
TgeneCOL3A1C4277682Chemical and Drug Induced Liver Injury1CTD_human