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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: 20538

FusionGeneSummary for MAD1L1_MAD1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAD1L1_MAD1L1
Fusion gene ID: 20538
HgeneTgene
Gene symbol

MAD1L1

MAD1L1

Gene ID

8379

8379

Gene namemitotic arrest deficient 1 like 1mitotic arrest deficient 1 like 1
SynonymsMAD1|PIG9|TP53I9|TXBP181MAD1|PIG9|TP53I9|TXBP181
Cytomap

7p22.3

7p22.3

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 protemitotic 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
Modification date2018052320180523
UniProtAcc

Q9Y6D9

Q9Y6D9

Ensembl transtripts involved in fusion geneENST00000402746, ENST00000399654, 
ENST00000406869, ENST00000265854, 
ENST00000486340, 		ENST00000402746, 
ENST00000399654, ENST00000406869, 
ENST00000265854, ENST00000486340, 
Fusion gene scores* DoF score4 X 5 X 4=8010 X 12 X 9=1080
# samples 618
** MAII scorelog2(6/80*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1080*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAD1L1 [Title/Abstract] AND MAD1L1 [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)

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

TgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940


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
ChiTaRS3.1CB243720MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
ChiTaRS3.1AA706490MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
ChiTaRS3.1CV421738MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
* 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
intron-intronENST00000402746ENST00000402746MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000402746ENST00000399654MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000402746ENST00000406869MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000402746ENST00000265854MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000402746ENST00000486340MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000399654ENST00000402746MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000399654ENST00000399654MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000399654ENST00000406869MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000399654ENST00000265854MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000399654ENST00000486340MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000406869ENST00000402746MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000406869ENST00000399654MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000406869ENST00000406869MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000406869ENST00000265854MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000406869ENST00000486340MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000265854ENST00000402746MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000265854ENST00000399654MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000265854ENST00000406869MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000265854ENST00000265854MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000265854ENST00000486340MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000486340ENST00000402746MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000486340ENST00000399654MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000486340ENST00000406869MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000486340ENST00000265854MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000486340ENST00000486340MAD1L1chr7

2225378

+MAD1L1chr7

2225473

-
intron-intronENST00000402746ENST00000402746MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000402746ENST00000399654MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000402746ENST00000406869MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000402746ENST00000265854MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000402746ENST00000486340MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000399654ENST00000402746MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000399654ENST00000399654MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000399654ENST00000406869MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000399654ENST00000265854MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000399654ENST00000486340MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000406869ENST00000402746MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000406869ENST00000399654MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000406869ENST00000406869MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000406869ENST00000265854MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000406869ENST00000486340MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000265854ENST00000402746MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000265854ENST00000399654MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000265854ENST00000406869MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000265854ENST00000265854MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000265854ENST00000486340MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000486340ENST00000402746MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000486340ENST00000399654MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000486340ENST00000406869MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000486340ENST00000265854MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000486340ENST00000486340MAD1L1chr7

1913398

-MAD1L1chr7

1913975

+
intron-intronENST00000402746ENST00000402746MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000402746ENST00000399654MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000402746ENST00000406869MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000402746ENST00000265854MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000402746ENST00000486340MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000399654ENST00000402746MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000399654ENST00000399654MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000399654ENST00000406869MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000399654ENST00000265854MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000399654ENST00000486340MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000406869ENST00000402746MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000406869ENST00000399654MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000406869ENST00000406869MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000406869ENST00000265854MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000406869ENST00000486340MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000265854ENST00000402746MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000265854ENST00000399654MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000265854ENST00000406869MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000265854ENST00000265854MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000265854ENST00000486340MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000486340ENST00000402746MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000486340ENST00000399654MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000486340ENST00000406869MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000486340ENST00000265854MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-
intron-intronENST00000486340ENST00000486340MAD1L1chr7

2126010

-MAD1L1chr7

2126743

-

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FusionProtFeatures for MAD1L1_MAD1L1


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

Q9Y6D9

MAD1L1

Q9Y6D9

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}. 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}.

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_MAD1L1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MAD1L1_MAD1L1


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


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_MAD1L1


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_MAD1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAD1L1C0036341Schizophrenia1PSYGENET
HgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
HgeneMAD1L1C3495559Juvenile arthritis1CTD_human
TgeneMAD1L1C0036341Schizophrenia1PSYGENET
TgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
TgeneMAD1L1C3495559Juvenile arthritis1CTD_human