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Fusion gene ID: 13010 |
FusionGeneSummary for FBLIM1_CELA2B |
Fusion gene summary |
Fusion gene information | Fusion gene name: FBLIM1_CELA2B | Fusion gene ID: 13010 | Hgene | Tgene | Gene symbol | FBLIM1 | CELA2B | Gene ID | 54751 | 51032 |
Gene name | filamin binding LIM protein 1 | chymotrypsin like elastase family member 2B | |
Synonyms | CAL|FBLP-1|FBLP1 | ELA2B | |
Cytomap | 1p36.21 | 1p36.21 | |
Type of gene | protein-coding | protein-coding | |
Description | filamin-binding LIM protein 1CSX-associated LIMMIG2-interacting proteinmigfilinmitogen-inducible 2 interacting protein | chymotrypsin-like elastase family member 2BRP11-265F14.2elastase 2Bpancreatic elastase IIB (ELA2B) | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8WUP2 | P08218 | |
Ensembl transtripts involved in fusion gene | ENST00000375771, ENST00000375766, ENST00000400773, ENST00000441801, ENST00000332305, ENST00000509138, | ENST00000494280, ENST00000375910, | |
Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 2 X 2 X 2=8 |
# samples | 5 | 2 | |
** MAII score | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: FBLIM1 [Title/Abstract] AND CELA2B [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | UCEC | TCGA-A5-A7WK-01A | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
TCGA | LD | UCEC | TCGA-A5-A7WK-01A | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3UTR | ENST00000375771 | ENST00000494280 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
5UTR-3UTR | ENST00000375771 | ENST00000375910 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000375766 | ENST00000494280 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000375766 | ENST00000375910 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000400773 | ENST00000494280 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000400773 | ENST00000375910 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000441801 | ENST00000494280 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000441801 | ENST00000375910 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000332305 | ENST00000494280 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000332305 | ENST00000375910 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000509138 | ENST00000494280 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000509138 | ENST00000375910 | FBLIM1 | chr1 | 16084824 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000375771 | ENST00000494280 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000375771 | ENST00000375910 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000375766 | ENST00000494280 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000375766 | ENST00000375910 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000400773 | ENST00000494280 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000400773 | ENST00000375910 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000441801 | ENST00000494280 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000441801 | ENST00000375910 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000332305 | ENST00000494280 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000332305 | ENST00000375910 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000509138 | ENST00000494280 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
intron-3UTR | ENST00000509138 | ENST00000375910 | FBLIM1 | chr1 | 16084850 | + | CELA2B | chr1 | 15802952 | + |
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FusionProtFeatures for FBLIM1_CELA2B |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
FBLIM1 | CELA2B |
Serves as an anchoring site for cell-ECM adhesionproteins and filamin-containing actin filaments. Is implicated incell shape modulation (spreading) and motility. May participate inthe regulation of filamin-mediated cross-linking and stabilizationof actin filaments. May also regulate the assembly of filamin-containing signaling complexes that control actin assembly.Promotes dissociation of FLNA from ITGB3 and ITGB7. Promotesactivation of integrins and regulates integrin-mediated cell-celladhesion. {ECO:0000269|PubMed:12496242,ECO:0000269|PubMed:12679033, ECO:0000269|PubMed:18829455,ECO:0000269|PubMed:19074766}. | Acts upon elastin. |
Retention 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 . * 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 FBLIM1_CELA2B |
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 FBLIM1_CELA2B |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
FBLIM1 | FERMT2, FLNA, FLNB, HIST1H3A, CUTA, LMO3, XPO1, TRIM15, FAN1, TMCC2, EVL | CELA2B | KRT40, STXBP3, GRN, MRE11A, NBN, UBE3A, ATXN2, RAD50, AURKA, COL4A2, TP53, FTSJ2, RPUSD2, C16orf70, CD109 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for FBLIM1_CELA2B |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FBLIM1_CELA2B |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |