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Fusion gene ID: 20540 |
FusionGeneSummary for MAD1L1_SERGEF |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MAD1L1_SERGEF | Fusion gene ID: 20540 | Hgene | Tgene | Gene symbol | MAD1L1 | SERGEF | Gene ID | 8379 | 26297 |
| Gene name | mitotic arrest deficient 1 like 1 | secretion regulating guanine nucleotide exchange factor | |
| Synonyms | MAD1|PIG9|TP53I9|TXBP181 | DELGEF|Gnefr | |
| Cytomap | 7p22.3 | 11p15.1 | |
| 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 | secretion-regulating guanine nucleotide exchange factordeafness locus associated putative guanine nucleotide exchange factorguanine nucleotide exchange factor-related protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9Y6D9 | Q9UGK8 | |
| Ensembl transtripts involved in fusion gene | ENST00000402746, ENST00000399654, ENST00000406869, ENST00000265854, ENST00000486340, | ENST00000265965, ENST00000528200, ENST00000532265, ENST00000532212, | |
| Fusion gene scores | * DoF score | 4 X 5 X 4=80 | 6 X 5 X 6=180 |
| # samples | 6 | 7 | |
| ** MAII score | log2(6/80*10)=-0.415037499278844 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/180*10)=-1.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: MAD1L1 [Title/Abstract] AND SERGEF [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. | ||
| * 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 | SERGEF | GO:0050709 | negative regulation of protein secretion | 12459492 |
| 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 | HNSC | TCGA-DQ-7591-01A | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| * 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 |
| Frame-shit | ENST00000402746 | ENST00000265965 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-3UTR | ENST00000402746 | ENST00000528200 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000402746 | ENST00000532265 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000402746 | ENST00000532212 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| Frame-shit | ENST00000399654 | ENST00000265965 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-3UTR | ENST00000399654 | ENST00000528200 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000399654 | ENST00000532265 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000399654 | ENST00000532212 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| In-frame | ENST00000406869 | ENST00000265965 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-3UTR | ENST00000406869 | ENST00000528200 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000406869 | ENST00000532265 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000406869 | ENST00000532212 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| Frame-shit | ENST00000265854 | ENST00000265965 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-3UTR | ENST00000265854 | ENST00000528200 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000265854 | ENST00000532265 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| 5CDS-intron | ENST00000265854 | ENST00000532212 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| intron-3CDS | ENST00000486340 | ENST00000265965 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| intron-3UTR | ENST00000486340 | ENST00000528200 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| intron-intron | ENST00000486340 | ENST00000532265 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
| intron-intron | ENST00000486340 | ENST00000532212 | MAD1L1 | chr7 | 2188787 | - | SERGEF | chr11 | 17809960 | - |
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FusionProtFeatures for MAD1L1_SERGEF |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MAD1L1 | SERGEF |
| 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}. | Probable guanine nucleotide exchange factor (GEF), whichmay be involved in the secretion process. |
| 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_SERGEF |
| 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. |
| >In-frame_MAD1L1_ENST00000406869_chr7_2188787_-_SERGEF_ENST00000265965_chr11_17809960_-_467aa MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLIQVEREKMQMELSHKRARVELERAAS TSARNYEREVDRNQELLTRIRQLQEREAGAEEKMQEQLERNRQCQQNLDAASKRLREKEDSLAQAGETINALKGRISELQWSVMDQEMRV KRLESEKQELQEQLDLQHKKCQEANQKIQELQASQEARADHEQQIKDLEQKLSLQEQDAAIVKNMKSELVRLPRLERELKQLREESAHLR EMRETNGLLQEELEGLQRKLGRQEKMQETLVGLELENERLLAKLQSWERLDQTMGLSIRTPEDLSRFVVELQQRELALKDKNSAVTSRWS VLLLGLE_AWHVRRWH_SQRLGPKAGAGSAVIVRTPCGLWGWPLLGPLPAASSPCIGPGPQGHLPFPRCHRGH_ISESHGQREKLEGKTI |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_MAD1L1_ENST00000406869_chr7_2188787_-_SERGEF_ENST00000265965_chr11_17809960_-_1402nt ATGGAAGACCTGGGGGAAAACACCATGGTTTTATCCACCCTGAGATCTTTGAACAACTTCATCTCTCAGCGTGTGGAGGGAGGCTCTGGA CTGGATATTTCTACCTCGGCCCCAGGTTCTCTGCAGATGCAGTACCAGCAGAGCATGCAGCTGGAGGAAAGAGCAGAGCAGATCCGTTCG AAGTCCCACCTCATCCAGGTGGAGCGGGAGAAAATGCAGATGGAGCTGAGTCACAAGAGGGCTCGAGTGGAGCTGGAGAGAGCAGCCAGC ACCAGTGCCAGGAACTACGAGCGTGAGGTCGACCGCAACCAGGAGCTCCTGACGCGCATCCGGCAGCTTCAGGAGCGGGAGGCCGGGGCG GAGGAGAAGATGCAGGAGCAGCTGGAGCGCAACAGGCAGTGTCAGCAGAACTTGGATGCTGCCAGCAAGAGGCTGCGTGAGAAAGAGGAC AGTCTGGCCCAGGCTGGCGAGACCATCAACGCACTGAAGGGGAGGATCTCGGAACTGCAGTGGAGCGTGATGGACCAGGAGATGCGGGTG AAGCGCCTGGAGTCGGAGAAGCAGGAGCTGCAGGAGCAGCTGGACCTGCAACACAAAAAATGCCAGGAAGCCAATCAGAAAATCCAGGAA CTCCAGGCCAGCCAAGAAGCAAGAGCAGACCACGAGCAGCAGATTAAGGATCTGGAGCAGAAGCTGTCCCTGCAAGAGCAGGATGCAGCG ATTGTGAAGAACATGAAGTCTGAGCTGGTACGGCTCCCTAGGCTGGAACGGGAGCTGAAGCAGCTGCGGGAGGAGAGCGCGCACCTGCGG GAGATGAGAGAGACCAACGGGCTGCTCCAGGAAGAGCTGGAAGGGCTGCAGAGGAAGCTGGGGCGCCAGGAGAAGATGCAGGAGACGCTG GTTGGCTTGGAGCTGGAGAACGAGAGGCTGCTGGCCAAGCTGCAAAGCTGGGAGAGACTGGACCAGACCATGGGCCTGAGCATCAGGACT CCAGAAGACCTTTCCAGATTCGTGGTTGAGCTGCAGCAGAGGGAGCTTGCCTTGAAGGACAAGAACAGCGCCGTCACCAGCAGGTGGAGT GTGTTACTCTTGGGGCTGGAATGAGCATGGCATGTGCGGAGATGGCACTGAAGCCAACGTCTGGGCCCCAAAGCCGGTGCAGGCTCTGCT GTCATCGTCAGGACTCCTTGTGGGCTGTGGGGCTGGCCACTCCTTGGCCCTCTGCCAGCTGCCAGCTCACCCTGCATTGGTCCAGGACCC CAAGGTCACCTACCTTTCCCCAGATGCCATCGAGGACACTGAATCTCAGAAAGCCATGGACAAAGAGAGAAACTGGAAGGAAAGACAATC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_MAD1L1_ENST00000406869_chr7_2188787_-_SERGEF_ENST00000265965_chr11_17809960_-_1997nt GCAAAATTTTGGGAAGAGTCAACGGTGCAAGTTTGTCCGAGGAGGCTGCCGTGGGCGCGGCTATTCCACACATTACGGCGCGAGGCGAAA GCCTTAGTGGAAGCGCGTCCTGCGCAAAGCCGGGGGGCCCCCGACTGCGCCTTGGCTCAGCCTTCGGTTCCGAGTCCTTTCCGTGCGGAG TCTCCCAGGGGTGGCGGCTCCGGGTGCGGACGCGGAGTCCCCAGGATCAGCCGGTGCGCAGACTCGGTTCTTTACGGCCCGATTGCCACG CAGGTCTCGCGAGAGCGCAGGCGCAAGTGTCGCGATAAATGGGCGCCGGCGGAGCGGAGGGAGATCCGAGCGGCGGCGGCAAGCTGGCTG CGAGCGGCTGAGCACTCCAAGCTCGCCGGCCTTTGGTCTCCAGGACTTGTCCCAGCAGCCCCTCGAACTGAGAATTACACCATCGGACCC CTGGCTCTGAGGCCTTCAGACTTGGACTGTGTCACACTGCCAGGCTTCCAGGGCTCCAACTTGCAGACGGCCTGTTGTGGGACAGTCTCT GTAATCGCGAAAGCAACCATGGAAGACCTGGGGGAAAACACCATGGTTTTATCCACCCTGAGATCTTTGAACAACTTCATCTCTCAGCGT GTGGAGGGAGGCTCTGGACTGGATATTTCTACCTCGGCCCCAGGTTCTCTGCAGATGCAGTACCAGCAGAGCATGCAGCTGGAGGAAAGA GCAGAGCAGATCCGTTCGAAGTCCCACCTCATCCAGGTGGAGCGGGAGAAAATGCAGATGGAGCTGAGTCACAAGAGGGCTCGAGTGGAG CTGGAGAGAGCAGCCAGCACCAGTGCCAGGAACTACGAGCGTGAGGTCGACCGCAACCAGGAGCTCCTGACGCGCATCCGGCAGCTTCAG GAGCGGGAGGCCGGGGCGGAGGAGAAGATGCAGGAGCAGCTGGAGCGCAACAGGCAGTGTCAGCAGAACTTGGATGCTGCCAGCAAGAGG CTGCGTGAGAAAGAGGACAGTCTGGCCCAGGCTGGCGAGACCATCAACGCACTGAAGGGGAGGATCTCGGAACTGCAGTGGAGCGTGATG GACCAGGAGATGCGGGTGAAGCGCCTGGAGTCGGAGAAGCAGGAGCTGCAGGAGCAGCTGGACCTGCAACACAAAAAATGCCAGGAAGCC AATCAGAAAATCCAGGAACTCCAGGCCAGCCAAGAAGCAAGAGCAGACCACGAGCAGCAGATTAAGGATCTGGAGCAGAAGCTGTCCCTG CAAGAGCAGGATGCAGCGATTGTGAAGAACATGAAGTCTGAGCTGGTACGGCTCCCTAGGCTGGAACGGGAGCTGAAGCAGCTGCGGGAG GAGAGCGCGCACCTGCGGGAGATGAGAGAGACCAACGGGCTGCTCCAGGAAGAGCTGGAAGGGCTGCAGAGGAAGCTGGGGCGCCAGGAG AAGATGCAGGAGACGCTGGTTGGCTTGGAGCTGGAGAACGAGAGGCTGCTGGCCAAGCTGCAAAGCTGGGAGAGACTGGACCAGACCATG GGCCTGAGCATCAGGACTCCAGAAGACCTTTCCAGATTCGTGGTTGAGCTGCAGCAGAGGGAGCTTGCCTTGAAGGACAAGAACAGCGCC GTCACCAGCAGGTGGAGTGTGTTACTCTTGGGGCTGGAATGAGCATGGCATGTGCGGAGATGGCACTGAAGCCAACGTCTGGGCCCCAAA GCCGGTGCAGGCTCTGCTGTCATCGTCAGGACTCCTTGTGGGCTGTGGGGCTGGCCACTCCTTGGCCCTCTGCCAGCTGCCAGCTCACCC TGCATTGGTCCAGGACCCCAAGGTCACCTACCTTTCCCCAGATGCCATCGAGGACACTGAATCTCAGAAAGCCATGGACAAAGAGAGAAA CTGGAAGGAAAGACAATCAGAAACTTCAACCCAAAGCCAATCTGACTGGTCCAGAAATGGGGGACTGTGATAGAGAATCTTTAATAAAGT |
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FusionGenePPI for MAD1L1_SERGEF |
| 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 | SERGEF | EXOC2, KDM1A, PRMT6, DPH3 |
| - 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_SERGEF |
| 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_SERGEF |
| 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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