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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 20540

FusionGeneSummary for MAD1L1_SERGEF

check button Fusion gene summary
Fusion gene informationFusion gene name: MAD1L1_SERGEF
Fusion gene ID: 20540
HgeneTgene
Gene symbol

MAD1L1

SERGEF

Gene ID

8379

26297

Gene namemitotic arrest deficient 1 like 1secretion regulating guanine nucleotide exchange factor
SynonymsMAD1|PIG9|TP53I9|TXBP181DELGEF|Gnefr
Cytomap

7p22.3

11p15.1

Type of geneprotein-codingprotein-coding
Descriptionmitotic 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 protesecretion-regulating guanine nucleotide exchange factordeafness locus associated putative guanine nucleotide exchange factorguanine nucleotide exchange factor-related protein
Modification date2018052320180519
UniProtAcc

Q9Y6D9

Q9UGK8

Ensembl transtripts involved in fusion geneENST00000402746, ENST00000399654, 
ENST00000406869, ENST00000265854, 
ENST00000486340, 
ENST00000265965, 
ENST00000528200, ENST00000532265, 
ENST00000532212, 
Fusion gene scores* DoF score4 X 5 X 4=806 X 5 X 6=180
# samples 67
** MAII scorelog2(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 annotationTumor 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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940

TgeneSERGEF

GO:0050709

negative regulation of protein secretion

12459492


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVHNSCTCGA-DQ-7591-01AMAD1L1chr7

2188787

-SERGEFchr11

17809960

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000402746ENST00000265965MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-3UTRENST00000402746ENST00000528200MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000402746ENST00000532265MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000402746ENST00000532212MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
Frame-shitENST00000399654ENST00000265965MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-3UTRENST00000399654ENST00000528200MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000399654ENST00000532265MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000399654ENST00000532212MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
In-frameENST00000406869ENST00000265965MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-3UTRENST00000406869ENST00000528200MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000406869ENST00000532265MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000406869ENST00000532212MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
Frame-shitENST00000265854ENST00000265965MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-3UTRENST00000265854ENST00000528200MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000265854ENST00000532265MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
5CDS-intronENST00000265854ENST00000532212MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
intron-3CDSENST00000486340ENST00000265965MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
intron-3UTRENST00000486340ENST00000528200MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
intron-intronENST00000486340ENST00000532265MAD1L1chr7

2188787

-SERGEFchr11

17809960

-
intron-intronENST00000486340ENST00000532212MAD1L1chr7

2188787

-SERGEFchr11

17809960

-

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FusionProtFeatures for MAD1L1_SERGEF


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAD1L1

Q9Y6D9

SERGEF

Q9UGK8

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.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MAD1L1_SERGEF


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MAD1L1TEX11, 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, C6orf141SERGEFEXOC2, KDM1A, PRMT6, DPH3


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MAD1L1_SERGEF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MAD1L1_SERGEF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAD1L1C0036341Schizophrenia1PSYGENET
HgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
HgeneMAD1L1C3495559Juvenile arthritis1CTD_human