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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: 9321

FusionGeneSummary for DAZAP1_MAD1L1

check button Fusion gene summary
Fusion gene informationFusion gene name: DAZAP1_MAD1L1
Fusion gene ID: 9321
HgeneTgene
Gene symbol

DAZAP1

MAD1L1

Gene ID

26528

8379

Gene nameDAZ associated protein 1mitotic arrest deficient 1 like 1
Synonyms-MAD1|PIG9|TP53I9|TXBP181
Cytomap

19p13.3

7p22.3

Type of geneprotein-codingprotein-coding
DescriptionDAZ-associated protein 1deleted in azoospermia-associated protein 1testicular tissue protein Li 50mitotic 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

Q96EP5

Q9Y6D9

Ensembl transtripts involved in fusion geneENST00000336761, ENST00000233078, 
ENST00000586579, 
ENST00000402746, 
ENST00000399654, ENST00000406869, 
ENST00000265854, ENST00000486340, 
Fusion gene scores* DoF score8 X 6 X 4=19210 X 12 X 9=1080
# samples 918
** MAII scorelog2(9/192*10)=-1.09310940439148
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: DAZAP1 [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
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
ChiTaRS3.1CD048646DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
ChiTaRS3.1CD049770DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
* 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-shitENST00000336761ENST00000402746DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
Frame-shitENST00000336761ENST00000399654DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
Frame-shitENST00000336761ENST00000406869DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
Frame-shitENST00000336761ENST00000265854DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
5CDS-intronENST00000336761ENST00000486340DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
Frame-shitENST00000233078ENST00000402746DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
Frame-shitENST00000233078ENST00000399654DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
Frame-shitENST00000233078ENST00000406869DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
Frame-shitENST00000233078ENST00000265854DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
5CDS-intronENST00000233078ENST00000486340DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
3UTR-3CDSENST00000586579ENST00000402746DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
3UTR-3CDSENST00000586579ENST00000399654DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
3UTR-3CDSENST00000586579ENST00000406869DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
3UTR-3CDSENST00000586579ENST00000265854DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-
3UTR-intronENST00000586579ENST00000486340DAZAP1chr19

1407802

+MAD1L1chr7

1976534

-

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FusionProtFeatures for DAZAP1_MAD1L1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DAZAP1

Q96EP5

MAD1L1

Q9Y6D9

RNA-binding protein, which may be required duringspermatogenesis. 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 DAZAP1_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 DAZAP1_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
DAZAP1DAZL, DAZ1, ELAVL1, CUL3, CUL4B, CUL5, CUL2, CUL1, COPS5, CAND1, NEDD8, BRCA1, FN1, VCAM1, ITGA4, RAD52, ITCH, RPA3, RPA2, RPA1, WWOX, CUL7, OBSL1, EZH2, SUZ12, RNF2, BMI1, AASDHPPT, ADK, AKR1A1, ARF4, ARF5, ASS1, ATOX1, CARHSP1, CFL1, CRIP1, CAPG, IDH1, PKM, DUT, DYNLL1, FAHD1, FH, FUBP3, GLOD4, GNB2L1, MDH2, MPI, MTAP, NANS, NQO1, PAICS, PCBP1, PCBP2, PFN1, PIN1, PIR, PRDX1, PRDX2, PSAT1, RAC1, RBM12, RSU1, SERPINH1, SH3BGRL, SNX12, SNX3, SOD1, TAGLN2, TALDO1, TIA1, TIAL1, TKT, TRIAP1, UBE2L3, EWSR1, WWP2, PDHA1, FOXA1, TRIM25, G3BP1MAD1L1TEX11, 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


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 DAZAP1_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 DAZAP1_MAD1L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDAZAP1C0005586Bipolar Disorder1PSYGENET
HgeneDAZAP1C0036341Schizophrenia1PSYGENET
TgeneMAD1L1C0036341Schizophrenia1PSYGENET
TgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
TgeneMAD1L1C3495559Juvenile arthritis1CTD_human