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Fusion gene ID: 13011 |
FusionGeneSummary for FBLIM1_DDI2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FBLIM1_DDI2 | Fusion gene ID: 13011 | Hgene | Tgene | Gene symbol | FBLIM1 | DDI2 | Gene ID | 54751 | 84301 |
| Gene name | filamin binding LIM protein 1 | DNA damage inducible 1 homolog 2 | |
| Synonyms | CAL|FBLP-1|FBLP1 | - | |
| 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 | protein DDI1 homolog 2DDI1, DNA-damage inducible 1, homolog 2DNA-damage inducible protein 2 (DDI2) | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q8WUP2 | Q5TDH0 | |
| Ensembl transtripts involved in fusion gene | ENST00000375771, ENST00000375766, ENST00000400773, ENST00000441801, ENST00000332305, ENST00000509138, | ENST00000480945, | |
| Fusion gene scores | * DoF score | 5 X 6 X 4=120 | 3 X 3 X 2=18 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/120*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: FBLIM1 [Title/Abstract] AND DDI2 [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 |
| Tgene | DDI2 | GO:0016485 | protein processing | 27528193 |
| 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 | LD | TGCT | TCGA-2G-AAM2-01A | FBLIM1 | chr1 | 16085343 | + | DDI2 | chr1 | 15986332 | + |
| * 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 |
| intron-3UTR | ENST00000375771 | ENST00000480945 | FBLIM1 | chr1 | 16085343 | + | DDI2 | chr1 | 15986332 | + |
| 5UTR-3UTR | ENST00000375766 | ENST00000480945 | FBLIM1 | chr1 | 16085343 | + | DDI2 | chr1 | 15986332 | + |
| 5UTR-3UTR | ENST00000400773 | ENST00000480945 | FBLIM1 | chr1 | 16085343 | + | DDI2 | chr1 | 15986332 | + |
| intron-3UTR | ENST00000441801 | ENST00000480945 | FBLIM1 | chr1 | 16085343 | + | DDI2 | chr1 | 15986332 | + |
| intron-3UTR | ENST00000332305 | ENST00000480945 | FBLIM1 | chr1 | 16085343 | + | DDI2 | chr1 | 15986332 | + |
| intron-3UTR | ENST00000509138 | ENST00000480945 | FBLIM1 | chr1 | 16085343 | + | DDI2 | chr1 | 15986332 | + |
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FusionProtFeatures for FBLIM1_DDI2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FBLIM1 | DDI2 |
| 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}. | Aspartic protease that mediates the cleavage ofNFE2L1/NRF1 at 'Leu-104', thereby promoting release of NFE2L1/NRF1from the endoplasmic reticulum membrane (PubMed:27676298,PubMed:27528193). Ubiquitination of NFE2L1/NRF1 is a prerequisitefor cleavage, suggesting that DDI2 specifically recognizes andbinds ubiquitinated NFE2L1/NRF1 (PubMed:27528193).{ECO:0000269|PubMed:27528193, ECO:0000269|PubMed:27676298}. |
| 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_DDI2 |
| 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_DDI2 |
| 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 | DDI2 | PSMA2, BAG3, HYPK, FAM129B, NAA10, NAA15, VPS26A, RDH5, NR1H3, CCDC6, COA7, METTL14, HAT1, TLN2, TOM1, TRMT6, TTC4, EYA4, ZG16B, NRIP3, CPNE2, HP1BP3, RAD23B, C7orf69, ZDHHC1, SUV39H1, UBC |
| - 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_DDI2 |
| 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_DDI2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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