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Fusion gene ID: 20539 |
FusionGeneSummary for MAD1L1_RPA3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAD1L1_RPA3 | Fusion gene ID: 20539 | Hgene | Tgene | Gene symbol | MAD1L1 | RPA3 | Gene ID | 8379 | 6119 |
| Gene name | mitotic arrest deficient 1 like 1 | replication protein A3 | |
| Synonyms | MAD1|PIG9|TP53I9|TXBP181 | REPA3|RP-A p14 | |
| Cytomap | 7p22.3 | 7p21.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | mitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding prote | replication protein A 14 kDa subunitRF-A protein 3replication factor A protein 3replication protein A3, 14kDa | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9Y6D9 | P35244 | |
| Ensembl transtripts involved in fusion gene | ENST00000402746, ENST00000399654, ENST00000406869, ENST00000265854, ENST00000486340, | ENST00000223129, ENST00000406109, ENST00000396682, ENST00000401447, | |
| Fusion gene scores | * DoF score | 4 X 5 X 4=80 | 3 X 2 X 3=18 |
| # samples | 6 | 3 | |
| ** MAII score | log2(6/80*10)=-0.415037499278844 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: MAD1L1 [Title/Abstract] AND RPA3 [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 |
| Hgene | MAD1L1 | GO:0090235 | regulation of metaphase plate congression | 20133940 |
| Tgene | RPA3 | GO:0006284 | base-excision repair | 9765279 |
| 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 | SARC | TCGA-SI-AA8B-01A | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| * 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 |
| 5CDS-5UTR | ENST00000402746 | ENST00000223129 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000402746 | ENST00000406109 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000402746 | ENST00000396682 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000402746 | ENST00000401447 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-5UTR | ENST00000399654 | ENST00000223129 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000399654 | ENST00000406109 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000399654 | ENST00000396682 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000399654 | ENST00000401447 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-5UTR | ENST00000406869 | ENST00000223129 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000406869 | ENST00000406109 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000406869 | ENST00000396682 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000406869 | ENST00000401447 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-5UTR | ENST00000265854 | ENST00000223129 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000265854 | ENST00000406109 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000265854 | ENST00000396682 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| 5CDS-intron | ENST00000265854 | ENST00000401447 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| intron-5UTR | ENST00000486340 | ENST00000223129 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| intron-intron | ENST00000486340 | ENST00000406109 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| intron-intron | ENST00000486340 | ENST00000396682 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
| intron-intron | ENST00000486340 | ENST00000401447 | MAD1L1 | chr7 | 2054137 | - | RPA3 | chr7 | 7680806 | - |
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FusionProtFeatures for MAD1L1_RPA3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAD1L1 | RPA3 |
| Component of the spindle-assembly checkpoint thatprevents the onset of anaphase until all chromosomes are properlyaligned at the metaphase plate. May recruit MAD2L1 to unattachedkinetochores. Has a role in the correct positioning of the septum.Required for anchoring MAD2L1 to the nuclear periphery. Binds tothe TERT promoter and represses telomerase expression, possibly byinterfering with MYC binding. {ECO:0000269|PubMed:10049595,ECO:0000269|PubMed:12837246, ECO:0000269|PubMed:20133940}. | As part of the heterotrimeric replication protein Acomplex (RPA/RP-A), binds and stabilizes single-stranded DNAintermediates that form during DNA replication or upon DNA stress.It prevents their reannealing and in parallel, recruits andactivates different proteins and complexes involved in DNAmetabolism. Thereby, it plays an essential role both in DNAreplication and the cellular response to DNA damage(PubMed:9430682). In the cellular response to DNA damage, the RPAcomplex controls DNA repair and DNA damage checkpoint activation.Through recruitment of ATRIP activates the ATR kinase a masterregulator of the DNA damage response (PubMed:24332808). It isrequired for the recruitment of the DNA double-strand break repairfactors RAD51 and RAD52 to chromatin, in response to DNA damage.Also recruits to sites of DNA damage proteins like XPA and XPGthat are involved in nucleotide excision repair and is requiredfor this mechanism of DNA repair (PubMed:7697716). Plays also arole in base excision repair (BER), probably through interactionwith UNG (PubMed:9765279). Also recruits SMARCAL1/HARP, which isinvolved in replication fork restart, to sites of DNA damage. Mayalso play a role in telomere maintenance. RPA3 has its own single-stranded DNA-binding activity and may be responsible for polarityof the binding of the complex to DNA (PubMed:19010961). As part ofthe alternative replication protein A complex, aRPA, binds single-stranded DNA and probably plays a role in DNA repair. Compared tothe RPA2-containing, canonical RPA complex, may not supportchromosomal DNA replication and cell cycle progression through S-phase. The aRPA may not promote efficient priming by DNApolymerase alpha but could support DNA synthesis by polymerasedelta in presence of PCNA and replication factor C (RFC), the dualincision/excision reaction of nucleotide excision repair andRAD51-dependent strand exchange (PubMed:19996105).{ECO:0000269|PubMed:19010961, ECO:0000269|PubMed:19116208,ECO:0000269|PubMed:19996105, ECO:0000269|PubMed:7697716,ECO:0000269|PubMed:9430682, ECO:0000269|PubMed:9765279,ECO:0000303|PubMed:24332808}. |
| 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 MAD1L1_RPA3 |
| 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 MAD1L1_RPA3 |
| 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 |
| MAD1L1 | TEX11, NINL, NONO, FAM131C, TRIM29, AMOTL2, TUBGCP4, MAD1L1, MAD2L1, HDAC1, HDAC2, MNT, NRD1, MAD2L1BP, CDC27, COIL, UBC, METTL21C, ZW10, SIN3A, BAG5, FLNB, ZZEF1, CDC20, TPR, TRIP13, ALOX5, TSC22D3, MFAP1, PSMA1, TPM1, TPM3, RNF8, SPATA2, USP15, NEBL, LGALSL, CCHCR1, ZSCAN32, CCDC94, TSHZ3, HAUS1, CWF19L2, CLEC11A, KCNAB3, VPS28, SCARA3, IKZF3, NUDC, STK24, NTRK1, APC, FOXJ2, SNW1, CDC5L, SENP3, PTRF, ZADH2, BMP1, ASB7, HSPA8, C6orf141 | RPA3 | MCM2, PARP3, TIMM13, EIF1B, ERCC6L, PKIG, PAK7, CTNNBIP1, VHL, CNBP, TFE3, TSC22D1, RPA4, RPA2, RPA1, RPA3, FYCO1, CHD1L, PRIM1, BLM, RFWD3, PCNA, HERC2, NEURL4, CUL3, POLD1, UBXN1, UNC45A, RAD52, RAD51, AARSD1, ARPC4, ARPC5, BAG1, CALR, DHPS, GRPEL1, NIF3L1, PARP1, HNRNPM, SMARCAL1, MYH9, PARP14, LIG3, TOP3A, ATR, FBXO18, DHX36, PRKDC, DNA2, XRCC1, HNRNPUL1, HLTF, XRN2, HNRNPD, XRCC6, GTF2I, MYH10, IQGAP1, CDKN2AIP, SFPQ, RMI1, MSI2, RTEL1, XRCC5, TIAL1, WRN, FUS, MPG, TARDBP, HNRNPA0, UNG, PARP9, HNRNPA2B1, ANXA2P2, PURB, GAPDH, PNKP, MSH2, RFC5, RBM4, NPM1, RBFOX2, MSH3, FLNA, EIF2S1, ACTB, HNRNPA1, NUDT21, HNRNPAB, KCNAB2, YTHDF1, XRN1, YTHDF3, SNRNP200, NONO, INTS6, C14orf166, ELAVL1, CSNK1A1, CUL1, RBM14, DTX3L, FUBP3, RFC4, HNRNPU, RPLP0, RAVER1, ACTA2, PTBP1, EWSR1, PRDX1, IMPDH2, PARP12, RNASEH1, SLFN11, RAB11B, RPL7, EEF1A2, RAB13, SERPINB12, ANXA2, NTHL1, TAF15, NTPCR, DAZAP1, EEF1A1, YTHDF2, CELF1, ESRP2, HNRNPDL, MATR3, SF3B1, TUBB4B, DHX15, TUBA4A, ATRIP, ACTBL2, HNRNPA3, KHDRBS1, RAB5C, HSPB1, SNRPB, TUBA1C, APEX1, MYH11, DDX5, PRPF6, DDX17, RPS9, RAB7A, SEC22B, RAB1A, TUBB, RPS7, CAPZA1, EMG1, RAB8A, RAI14, HNRNPK, PDS5A, LMO7, RBM27, SF3B2, NCL, RPL13A, RPS5, LDHA, PPP1CC, RFC2, EFTUD2, SF3A1, MPRIP, CHTF18, RBM25, ILF3, SF3B3, RBM26, SPTAN1, BCAP31, MNAT1, DDX3X, BCAS2, MDC1, RAB35, RBM39, RPL19, RPL9, BUB3, RPS8, CSNK1A1L, RAB10, TMEM33, MYO1C, DSP, PRPF8, TOP2B, PABPC1, TCOF1, TFRC, MYO1E, RBM15, PRPF40A, SKIV2L2, MYOF, PPP1R10, SMC3, INTS3, THOC2, RAD50, SYMPK, CLTC, KIAA0196, TRIM28, ARHGEF2, HNRNPR, LIMCH1, ALPP, CDC5L, CKAP5, RPL6, SMC1A, SMC2, HSPA8, CCAR2, LIMA1, LMAN2, MYO1B, WDR82, ADAR, FKBP15, HNRNPL, ILF2, MOV10, RFC1, SPTBN1, THOC6, AHNAK, PRRC2A, CHD4, DHX9, HSPA5, KDM1A, MRE11A, MTHFD1, NAPA, RPRD1B, SYNCRIP, TOP2A, DDX23, DNTTIP1, LOC442497, SCAMP3, U2SURP, TSR1, WDR3, ADD1, CAPRIN1, CCNH, CPSF7, EXOSC10, GTF2H3, MAP4, NBN, POLA1, PSIP1, RAB2A, RFC3, RPL18A, SNRNP40, SRBD1, TAGLN2, TMPO, TPX2, AP1B1, BAG2, BBX, ELMSAN1, CALD1, CANX, CDK7, COPA, CSNK2A2, DDX46, EGFR, ERGIC1, GEMIN5, GTF3C2, PKP3, POLR1B, POLR2E, RALY, SMC4, STRBP, THOC7, TRIP12, WDR33, ATP6V0D1, C7orf50, CAV1, CLINT1, COBL, CPSF1, CTTN, DDB1, DDX1, DIDO1, DNAJC9, EDC4, EIF2S2, ESYT1, HCFC1, INTS1, MORF4L2, PCF11, PPP2CA, RAB14, RAB6B, RPL15, RPS7P4, SMARCA5, THOC1, TPM2, UBC, ZNF638, AKAP8, AP2A1, AP2A2, AP2B1, ARG1, CHERP, EPRS, EXOSC7, EXOSC8, FBL, GEMIN4, HNRNPCL1, HNRNPF, HNRNPH1, ITGB1, KIAA1033, MED4, MYO1F, NIPBL, NUMA1, PABPC4, PELP1, PGRMC1, PPP1R12A, PRPF19, RAB6A, RAD21, RBM10, RPL10L, RPL13P12, RPL18, RPRD2, RPS3A, RTN4, RUVBL2, SEH1L, SCAF4, SMARCC2, TCERG1, TERF2, TEX10, USP7, WAPAL, WDHD1, ZCCHC8, ZFR, ZNF598, UNK, LTN1, LMNB1, UBE2A, CEP162, FOXA3, FOXB1, FOXP1, USP37, NFATC2, EYA1, EYA4, PTPN7, POLL, SUPT16H, ERCC1, DLD, DNM1L, PDHA1, SOD1, CCND2 |
| - 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 MAD1L1_RPA3 |
| 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 MAD1L1_RPA3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MAD1L1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | MAD1L1 | C1336708 | Testicular Germ Cell Tumor | 1 | CTD_human |
| Hgene | MAD1L1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
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