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Fusion gene ID: 20540 |
FusionGeneSummary for MAD1L1_SERGEF |
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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) |
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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 |
![]() (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 |
![]() * 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-shift | 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-shift | 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-shift | 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 |
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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. |
![]() * 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 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
>In-frame_MAD1L1_ENST00000406869_chr7_2188787_-_SERGEF_ENST00000265965_chr11_17809960_-_467aa MEDLGENTMVLSTLRSLNNFISQRVEGGSGLDISTSAPGSLQMQYQQSMQLEERAEQIRSKSHLIQVEREKMQMELSHKRARVELERAAS TSARNYEREVDRNQELLTRIRQLQEREAGAEEKMQEQLERNRQCQQNLDAASKRLREKEDSLAQAGETINALKGRISELQWSVMDQEMRV KRLESEKQELQEQLDLQHKKCQEANQKIQELQASQEARADHEQQIKDLEQKLSLQEQDAAIVKNMKSELVRLPRLERELKQLREESAHLR EMRETNGLLQEELEGLQRKLGRQEKMQETLVGLELENERLLAKLQSWERLDQTMGLSIRTPEDLSRFVVELQQRELALKDKNSAVTSRWS VLLLGLEXAWHVRRWHXSQRLGPKAGAGSAVIVRTPCGLWGWPLLGPLPAASSPCIGPGPQGHLPFPRCHRGHXISESHGQREKLEGKTI |
* 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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for MAD1L1_SERGEF |
![]() (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 |
![]() (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 |