|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 9321 |
FusionGeneSummary for DAZAP1_MAD1L1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: DAZAP1_MAD1L1 | Fusion gene ID: 9321 | Hgene | Tgene | Gene symbol | DAZAP1 | MAD1L1 | Gene ID | 26528 | 8379 |
| Gene name | DAZ associated protein 1 | mitotic arrest deficient 1 like 1 | |
| Synonyms | - | MAD1|PIG9|TP53I9|TXBP181 | |
| Cytomap | 19p13.3 | 7p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | DAZ-associated protein 1deleted in azoospermia-associated protein 1testicular tissue protein Li 50 | 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 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q96EP5 | Q9Y6D9 | |
| Ensembl transtripts involved in fusion gene | ENST00000336761, ENST00000233078, ENST00000586579, | ENST00000402746, ENST00000399654, ENST00000406869, ENST00000265854, ENST00000486340, | |
| Fusion gene scores | * DoF score | 8 X 6 X 4=192 | 10 X 12 X 9=1080 |
| # samples | 9 | 18 | |
| ** MAII score | log2(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) |
| 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 |
| Tgene | MAD1L1 | GO:0090235 | regulation of metaphase plate congression | 20133940 |
| 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 |
| ChiTaRS3.1 | CD048646 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - | ||
| ChiTaRS3.1 | CD049770 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| * 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-shift | ENST00000336761 | ENST00000402746 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| Frame-shift | ENST00000336761 | ENST00000399654 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| Frame-shift | ENST00000336761 | ENST00000406869 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| Frame-shift | ENST00000336761 | ENST00000265854 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| 5CDS-intron | ENST00000336761 | ENST00000486340 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| Frame-shift | ENST00000233078 | ENST00000402746 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| Frame-shift | ENST00000233078 | ENST00000399654 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| Frame-shift | ENST00000233078 | ENST00000406869 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| Frame-shift | ENST00000233078 | ENST00000265854 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| 5CDS-intron | ENST00000233078 | ENST00000486340 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| 3UTR-3CDS | ENST00000586579 | ENST00000402746 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| 3UTR-3CDS | ENST00000586579 | ENST00000399654 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| 3UTR-3CDS | ENST00000586579 | ENST00000406869 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| 3UTR-3CDS | ENST00000586579 | ENST00000265854 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
| 3UTR-intron | ENST00000586579 | ENST00000486340 | DAZAP1 | chr19 | 1407802 | + | MAD1L1 | chr7 | 1976534 | - |
Top |
FusionProtFeatures for DAZAP1_MAD1L1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| DAZAP1 | MAD1L1 |
| 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}. |
| 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 |
Top |
FusionGeneSequence for DAZAP1_MAD1L1 |
| 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). |
Top |
FusionGenePPI for DAZAP1_MAD1L1 |
| 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 |
| DAZAP1 | DAZL, 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, G3BP1 | 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 |
| - 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 |
Top |
RelatedDrugs for DAZAP1_MAD1L1 |
| 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 |
Top |
RelatedDiseases for DAZAP1_MAD1L1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | DAZAP1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Hgene | DAZAP1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | MAD1L1 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Tgene | MAD1L1 | C1336708 | Testicular Germ Cell Tumor | 1 | CTD_human |
| Tgene | MAD1L1 | C3495559 | Juvenile arthritis | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|