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Fusion gene ID: 20757 |
FusionGeneSummary for MAN2A2_BLM |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAN2A2_BLM | Fusion gene ID: 20757 | Hgene | Tgene | Gene symbol | MAN2A2 | BLM | Gene ID | 4122 | 641 |
| Gene name | mannosidase alpha class 2A member 2 | Bloom syndrome RecQ like helicase | |
| Synonyms | MANA2X | BS|RECQ2|RECQL2|RECQL3 | |
| Cytomap | 15q26.1 | 15q26.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | alpha-mannosidase 2xMAN IIxalpha-mannosidase IIxmannosidase, alpha type II-Xmannosyl-oligosaccharide 1,3-1,6-alpha-mannosidasemanosidase, alpha-, type II, isozyme X | Bloom syndrome proteinBloom syndrome, RecQ helicase-likeDNA helicase, RecQ-like type 2recQ protein-like 3 | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P49641 | P54132 | |
| Ensembl transtripts involved in fusion gene | ENST00000559717, ENST00000360468, ENST00000431652, ENST00000430376, ENST00000558538, | ENST00000355112, ENST00000560509, ENST00000560136, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 4 X 5 X 2=40 |
| # samples | 1 | 4 | |
| ** MAII score | log2(1/1*10)=3.32192809488736 | log2(4/40*10)=0 | |
| Context | PubMed: MAN2A2 [Title/Abstract] AND BLM [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 | BLM | GO:0000729 | DNA double-strand break processing | 21325134 |
| Tgene | BLM | GO:0006974 | cellular response to DNA damage stimulus | 23509288 |
| Tgene | BLM | GO:0007095 | mitotic G2 DNA damage checkpoint | 11309417 |
| Tgene | BLM | GO:0010165 | response to X-ray | 11309417 |
| Tgene | BLM | GO:0031297 | replication fork processing | 17115688 |
| Tgene | BLM | GO:0032508 | DNA duplex unwinding | 11735402|24816114|25901030 |
| Tgene | BLM | GO:0044806 | G-quadruplex DNA unwinding | 11735402 |
| Tgene | BLM | GO:0045893 | positive regulation of transcription, DNA-templated | 11781842 |
| Tgene | BLM | GO:0051259 | protein complex oligomerization | 10359700|28228481 |
| Tgene | BLM | GO:0051260 | protein homooligomerization | 28228481 |
| Tgene | BLM | GO:0061820 | telomeric D-loop disassembly | 19734539 |
| Tgene | BLM | GO:0071479 | cellular response to ionizing radiation | 23509288 |
| Tgene | BLM | GO:0072711 | cellular response to hydroxyurea | 23509288 |
| Tgene | BLM | GO:0072757 | cellular response to camptothecin | 23509288 |
| 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 | LUAD | TCGA-69-7979-01A | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| * 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-3CDS | ENST00000559717 | ENST00000355112 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| 5UTR-3CDS | ENST00000559717 | ENST00000560509 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| 5UTR-intron | ENST00000559717 | ENST00000560136 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000360468 | ENST00000355112 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000360468 | ENST00000560509 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-intron | ENST00000360468 | ENST00000560136 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000431652 | ENST00000355112 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000431652 | ENST00000560509 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-intron | ENST00000431652 | ENST00000560136 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000430376 | ENST00000355112 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000430376 | ENST00000560509 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-intron | ENST00000430376 | ENST00000560136 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000558538 | ENST00000355112 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-3CDS | ENST00000558538 | ENST00000560509 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
| intron-intron | ENST00000558538 | ENST00000560136 | MAN2A2 | chr15 | 91446662 | + | BLM | chr15 | 91303377 | + |
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FusionProtFeatures for MAN2A2_BLM |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAN2A2 | BLM |
| Catalyzes the first committed step in the biosynthesisof complex N-glycans. It controls conversion of high mannose tocomplex N-glycans; the final hydrolytic step in the N-glycanmaturation pathway. | ATP-dependent DNA helicase that unwinds single- anddouble-stranded DNA in a 3'-5' direction (PubMed:9388193,PubMed:24816114, PubMed:25901030). Participates in DNA replicationand repair (PubMed:12019152, PubMed:21325134, PubMed:23509288).Involved in 5'-end resection of DNA during double-strand break(DSB) repair: unwinds DNA and recruits DNA2 which mediates thecleavage of 5'-ssDNA (PubMed:21325134). Negatively regulatessister chromatid exchange (SCE) (PubMed:25901030). Stimulates DNA4-way junction branch migration and DNA Holliday junctiondissolution (PubMed:25901030). Binds single-stranded DNA (ssDNA),forked duplex DNA and DNA Holliday junction (PubMed:20639533,PubMed:24257077, PubMed:25901030). {ECO:0000269|PubMed:12019152,ECO:0000269|PubMed:20639533, ECO:0000269|PubMed:21325134,ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:24257077,ECO:0000269|PubMed:24816114, ECO:0000269|PubMed:25901030,ECO:0000269|PubMed:9388193}. |
| 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 MAN2A2_BLM |
| 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 MAN2A2_BLM |
| 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 |
| MAN2A2 | GIT1, IKBKAP, LUC7L2, CHD3, VIM, FBXO6, HLA-DRA, CLEC12A, SUSD4, PLAUR, SLC39A4, TMEM25, HLA-E, PTPRK, CAPN2, FUT8, SLC9A6, CD1E, LYZL2, MGAT4C, GALNT7, TAZ, B4GALT6, GAA, DEFA1, IL17RC | BLM | TOP3A, FANCD2, TP53, TP53BP1, H2AFX, FEN1, ATM, BRCA1, MLH1, MRE11A, MSH2, MSH6, NBN, RAD50, CASP3, CHAF1A, RAD51D, XRCC2, RAD51, RPA1, CHEK1, TERF2, WRN, FANCA, RFC1, MX1, EXO1, FANCM, UBE2I, SYN1, MCRS1, PSMD3, BRIP1, APITD1, RMI1, ATR, PAXIP1, RPA2, RPA3, FANCG, SIRT7, COPS5, CAND1, ATRX, TEP1, BLM, HSP90AA1, TOP2A, SF3B2, MAGOH, EIF4A3, TERF1, RNF8, TRIM49, UIMC1, SUMO1, SUMO2, UPF2, TOPBP1, PARP1, MIB1, PWP1, STRA13, FAN1, EGFR, NEK11, C17orf70, RMI2, AQR, VCP, MMS22L, ELK4, RPS14, ICK, XIAP, SNRNP200, POU3F3, SUPT5H, RPS27A, ACTR5, RPL37, RAD23B, TRIM15, TRIM8, TREX2, RPL14, RREB1, RPL7, ALDH3B1, RPS19, MORF4L2, HIST1H2AI, NDUFA13, KLF16, CSNK2B, CARS2, AKR1B1, RAMP1, PSMD1, HES5, RPL23A, URI1, CEBPD, DYNLT1, CASP8, MCM3AP, HPS5, CORO7, FAM192A, FOXP1, SNW1, APBB1, PHF8, PPM1H, MECP2, ZNF512, AIPL1, MIOS, FGFR1OP, PDE5A, NEK4, CHEK2, ADA, WEE1, MAP2K1, RABGGTB, FNTA, TUBA1A, COX15, MYC, JUN, FBXW7 |
| - 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 MAN2A2_BLM |
| 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 MAN2A2_BLM |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BLM | C0005859 | Bloom Syndrome | 4 | CTD_human;ORPHANET;UNIPROT |
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