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Fusion gene ID: 13509 |
FusionGeneSummary for FKBP3_FANCM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: FKBP3_FANCM | Fusion gene ID: 13509 | Hgene | Tgene | Gene symbol | FKBP3 | FANCM | Gene ID | 2287 | 57697 |
| Gene name | FK506 binding protein 3 | FA complementation group M | |
| Synonyms | FKBP-25|FKBP-3|FKBP25|PPIase | FAAP250|KIAA1596 | |
| Cytomap | 14q21.2 | 14q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | peptidyl-prolyl cis-trans isomerase FKBP325 kDa FK506-binding protein25 kDa FKBPFK506 binding protein 3, 25kDaFK506-binding protein 25, T-cellPPIase FKBP3immunophilin FKBP25rapamycin binding proteinrapamycin-selective 25 kDa immunophilinrotamase | Fanconi anemia group M proteinATP-dependent RNA helicase FANCMFanconi anemia complementation group Mfanconi anemia-associated polypeptide of 250 kDaprotein Hef ortholog | |
| Modification date | 20180522 | 20180527 | |
| UniProtAcc | Q00688 | Q8IYD8 | |
| Ensembl transtripts involved in fusion gene | ENST00000396062, ENST00000216330, | ENST00000556036, ENST00000267430, ENST00000542564, ENST00000555013, | |
| Fusion gene scores | * DoF score | 6 X 5 X 3=90 | 2 X 2 X 2=8 |
| # samples | 6 | 2 | |
| ** MAII score | log2(6/90*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: FKBP3 [Title/Abstract] AND FANCM [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 | LD | HNSC | TCGA-CN-6994-01A | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| * 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 |
| In-frame | ENST00000396062 | ENST00000556036 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| In-frame | ENST00000396062 | ENST00000267430 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| In-frame | ENST00000396062 | ENST00000542564 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| 5CDS-intron | ENST00000396062 | ENST00000555013 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| Frame-shift | ENST00000216330 | ENST00000556036 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| Frame-shift | ENST00000216330 | ENST00000267430 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| Frame-shift | ENST00000216330 | ENST00000542564 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
| 5CDS-intron | ENST00000216330 | ENST00000555013 | FKBP3 | chr14 | 45598997 | - | FANCM | chr14 | 45618040 | + |
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FusionProtFeatures for FKBP3_FANCM |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| FKBP3 | FANCM |
| FK506- and rapamycin-binding proteins (FKBPs) constitutea family of receptors for the two immunosuppressants which inhibitT-cell proliferation by arresting two distinct cytoplasmic signaltransmission pathways. PPIases accelerate the folding of proteins. | DNA-dependent ATPase component of the Fanconi anemia(FA) core complex (PubMed:16116422). Required for the normalactivation of the FA pathway, leading to monoubiquitination of theFANCI-FANCD2 complex in response to DNA damage, cellularresistance to DNA cross-linking drugs, and prevention ofchromosomal breakage (PubMed:16116422, PubMed:19423727,PubMed:20347428, PubMed:20347429). In complex with CENPS andCENPX, binds double-stranded DNA (dsDNA), fork-structured DNA(fsDNA) and Holliday junction substrates (PubMed:20347428,PubMed:20347429). Its ATP-dependent DNA branch migration activitycan process branched DNA structures such as a movable replicationfork. This activity is strongly stimulated in the presence ofCENPS and CENPX (PubMed:20347429). In complex with FAAP24,efficiently binds to single-strand DNA (ssDNA), splayed-arm DNA,and 3'-flap substrates (PubMed:17289582). In vitro, on its own,strongly binds ssDNA oligomers and weakly fsDNA, but does not bindto dsDNA (PubMed:16116434). {ECO:0000269|PubMed:16116422,ECO:0000269|PubMed:16116434, ECO:0000269|PubMed:17289582,ECO:0000269|PubMed:19423727, ECO:0000269|PubMed:20347428,ECO:0000269|PubMed:20347429}. |
| 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 |
| Tgene | >FANCM | chr14:45598997 | chr14:45618040 | ENST00000267430 | + | 2 | 23 | 452_627 | 253 | 2049 | Domain | Helicase C-terminal |
| Tgene | >FANCM | chr14:45598997 | chr14:45618040 | ENST00000556036 | + | 2 | 11 | 452_627 | 253 | 670 | Domain | Helicase C-terminal |
| - 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 |
| Hgene | >FKBP3 | chr14:45598997 | chr14:45618040 | ENST00000216330 | - | 4 | 8 | 128_224 | 106 | 225 | Domain | PPIase FKBP-type |
| Hgene | >FKBP3 | chr14:45598997 | chr14:45618040 | ENST00000396062 | - | 3 | 7 | 128_224 | 106 | 225 | Domain | PPIase FKBP-type |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000267430 | + | 2 | 23 | 98_266 | 253 | 2049 | Domain | Helicase ATP-binding |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000556036 | + | 2 | 11 | 98_266 | 253 | 670 | Domain | Helicase ATP-binding |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000267430 | + | 2 | 23 | 214_217 | 253 | 2049 | Motif | DEAH box |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000556036 | + | 2 | 11 | 214_217 | 253 | 670 | Motif | DEAH box |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000267430 | + | 2 | 23 | 111_118 | 253 | 2049 | Nucleotide binding | ATP |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000556036 | + | 2 | 11 | 111_118 | 253 | 670 | Nucleotide binding | ATP |
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FusionGeneSequence for FKBP3_FANCM |
| 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 FKBP3_FANCM |
| 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 |
| FKBP3 | MTA2, HDAC1, HDAC2, YY1, MDM2, TP53, CALM1, NEDD4L, NEDD4, PACSIN3, TIMELESS, LRRFIP1, MYH10, BARD1, FBXO25, SRPK1, ABCF1, C14orf166, NELFB, DDX1, DIMT1, DYNLL1, EDC4, EIF2B2, EIF2B3, HNRNPA2B1, HNRNPU, IGF2BP3, ILF2, KRT18, MAP1S, NMT1, RFC4, SEC16A, SYNCRIP, YBX1, CGGBP1, NTRK1, EWSR1, CEP19, SMURF1 | FANCM | FANCM, FANCA, C17orf70, FANCE, FANCL, C19orf40, BLM, RMI1, RPA1, FANCG, FANCC, FANCF, RPA2, FANCB, CLK2, APITD1, STRA13, RMI2, TOP3A, EME2, C1orf86, FBXW11, APP, ECT2, FUS, TRIM27, MOV10, UBE2I, KIFC3, SORT1, TNRC6A, CDKN2AIP, PCIF1, BTRC, PCNA, MOCS2, KIAA0101, FANCI, FOXF1, TELO2 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000267430 | + | 2 | 23 | 661_800 | 253 | 2049 | CENPS/CENPSX |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000556036 | + | 2 | 11 | 661_800 | 253 | 670 | CENPS/CENPSX |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000267430 | + | 2 | 23 | 1727_2048 | 253 | 2049 | FAAP24 |
| Tgene | FANCM | chr14:45598997 | chr14:45618040 | ENST00000556036 | + | 2 | 11 | 1727_2048 | 253 | 670 | FAAP24 |
| - 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 FKBP3_FANCM |
| 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 FKBP3_FANCM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FANCM | C0015625 | Fanconi Anemia | 1 | CTD_human;ORPHANET |
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