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Fusion gene ID: 13579 |
FusionGeneSummary for FLNC_COL3A1 |
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Fusion gene information | Fusion gene name: FLNC_COL3A1 | Fusion gene ID: 13579 | Hgene | Tgene | Gene symbol | FLNC | COL3A1 | Gene ID | 2318 | 1281 |
Gene name | filamin C | collagen type III alpha 1 chain | |
Synonyms | ABP-280|ABP280A|ABPA|ABPL|CMH26|FLN2|MFM5|MPD4|RCM5 | EDS4A|EDSVASC | |
Cytomap | 7q32.1 | 2q32.2 | |
Type of gene | protein-coding | protein-coding | |
Description | filamin-CABP-280-like proteinABP-L, gamma filaminactin binding protein 280filamin C, gammafilamin-2gamma filamin | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q14315 | P02461 | |
Ensembl transtripts involved in fusion gene | ENST00000325888, ENST00000346177, | ENST00000304636, ENST00000317840, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 13 X 17 X 4=884 |
# samples | 1 | 17 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
Tgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
Tgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
Tgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
Tgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
Tgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SARC | TCGA-HB-A3YV-01A | FLNC | chr7 | 128482752 | + | COL3A1 | chr2 | 189871071 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000325888 | ENST00000304636 | FLNC | chr7 | 128482752 | + | COL3A1 | chr2 | 189871071 | + |
5CDS-intron | ENST00000325888 | ENST00000317840 | FLNC | chr7 | 128482752 | + | COL3A1 | chr2 | 189871071 | + |
Frame-shift | ENST00000346177 | ENST00000304636 | FLNC | chr7 | 128482752 | + | COL3A1 | chr2 | 189871071 | + |
5CDS-intron | ENST00000346177 | ENST00000317840 | FLNC | chr7 | 128482752 | + | COL3A1 | chr2 | 189871071 | + |
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FusionProtFeatures for FLNC_COL3A1 |
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Hgene | Tgene |
FLNC | COL3A1 |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for FLNC_COL3A1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
FLNC | MAP2K4, 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, TES | COL3A1 | SPARC, THBS1, MAG, SP1, CAND1, MYOC, PDGFA, PDGFB, ERAL1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FLNC_COL3A1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(III) chain | biotech | approved|investigational |
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RelatedDiseases for FLNC_COL3A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | FLNC | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | FLNC | C3279722 | MYOPATHY, DISTAL, 4 | 1 | ORPHANET;UNIPROT |
Tgene | COL3A1 | C0268338 | Ehlers-Danlos Syndrome, Type IV | 23 | ORPHANET;UNIPROT |
Tgene | COL3A1 | C0023890 | Liver Cirrhosis | 5 | CTD_human |
Tgene | COL3A1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
Tgene | COL3A1 | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET;UNIPROT |
Tgene | COL3A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
Tgene | COL3A1 | C0015695 | Fatty Liver | 1 | CTD_human |
Tgene | COL3A1 | C0016059 | Fibrosis | 1 | CTD_human |
Tgene | COL3A1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
Tgene | COL3A1 | C0020456 | Hyperglycemia | 1 | CTD_human |
Tgene | COL3A1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
Tgene | COL3A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | COL3A1 | C0022548 | Keloid | 1 | CTD_human |
Tgene | COL3A1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Tgene | COL3A1 | C0023895 | Liver diseases | 1 | CTD_human |
Tgene | COL3A1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Tgene | COL3A1 | C0036341 | Schizophrenia | 1 | CTD_human |
Tgene | COL3A1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
Tgene | COL3A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
Tgene | COL3A1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
Tgene | COL3A1 | C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | 1 | CTD_human;UNIPROT |
Tgene | COL3A1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
Tgene | COL3A1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |