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Fusion gene ID: 3572 |
FusionGeneSummary for ATXN1_DTNBP1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATXN1_DTNBP1 | Fusion gene ID: 3572 | Hgene | Tgene | Gene symbol | ATXN1 | DTNBP1 | Gene ID | 6310 | 84062 |
| Gene name | ataxin 1 | dystrobrevin binding protein 1 | |
| Synonyms | ATX1|D6S504E|SCA1 | BLOC1S8|DBND|HPS7|My031|SDY | |
| Cytomap | 6p22.3 | 6p22.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ataxin-1alternative ataxin1spinocerebellar ataxia type 1 protein | dysbindinBLOC-1 subunit 8Hermansky-Pudlak syndrome 7 proteinbiogenesis of lysosomal organelles complex-1, subunit 8biogenesis of lysosome-related organelles complex 1 subunit 8dysbindin-1 | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P54253 | Q96EV8 | |
| Ensembl transtripts involved in fusion gene | ENST00000244769, ENST00000436367, ENST00000467008, | ENST00000344537, ENST00000355917, ENST00000338950, ENST00000462989, | |
| Fusion gene scores | * DoF score | 20 X 12 X 9=2160 | 9 X 5 X 7=315 |
| # samples | 21 | 9 | |
| ** MAII score | log2(21/2160*10)=-3.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/315*10)=-1.8073549220576 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATXN1 [Title/Abstract] AND DTNBP1 [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 |
| Hgene | ATXN1 | GO:0045892 | negative regulation of transcription, DNA-templated | 15016912 |
| Hgene | ATXN1 | GO:0051168 | nuclear export | 15615787 |
| Tgene | DTNBP1 | GO:0031175 | neuron projection development | 16980328 |
| 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 |
| TCGA | RV | LIHC | TCGA-HP-A5N0-01A | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| * 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 |
| 5UTR-3CDS | ENST00000244769 | ENST00000344537 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| 5UTR-3CDS | ENST00000244769 | ENST00000355917 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| 5UTR-3CDS | ENST00000244769 | ENST00000338950 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| 5UTR-3CDS | ENST00000244769 | ENST00000462989 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| 5UTR-3CDS | ENST00000436367 | ENST00000344537 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| 5UTR-3CDS | ENST00000436367 | ENST00000355917 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| 5UTR-3CDS | ENST00000436367 | ENST00000338950 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| 5UTR-3CDS | ENST00000436367 | ENST00000462989 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000467008 | ENST00000344537 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000467008 | ENST00000355917 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000467008 | ENST00000338950 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
| intron-3CDS | ENST00000467008 | ENST00000462989 | ATXN1 | chr6 | 16486203 | - | DTNBP1 | chr6 | 15533626 | - |
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FusionProtFeatures for ATXN1_DTNBP1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATXN1 | DTNBP1 |
| Chromatin-binding factor that repress Notch signaling inthe absence of Notch intracellular domain by acting as a CBF1corepressor. Binds to the HEY promoter and might assist, alongwith NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May beinvolved in RNA metabolism (PubMed:21475249). In concert with CICand ATXN1L, involved in brain development (By similarity).{ECO:0000250|UniProtKB:P54254, ECO:0000269|PubMed:21475249}. | Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension. Associates with the BLOC-2 complex tofacilitate the transport of TYRP1 independent of AP-3 function.Plays a role in synaptic vesicle trafficking and inneurotransmitter release. Plays a role in the regulation of cellsurface exposure of DRD2. May play a role in actin cytoskeletonreorganization and neurite outgrowth. May modulate MAPK8phosphorylation. Appears to promote neuronal transmission andviability through regulating the expression of SNAP25 and SYN1,modulating PI3-kinase-Akt signaling and influencing glutamatergicrelease. Regulates the expression of SYN1 through binding to itspromoter. Modulates prefrontal cortical activity via thedopamine/D2 pathway. {ECO:0000269|PubMed:15345706,ECO:0000269|PubMed:16837549, ECO:0000269|PubMed:17182842,ECO:0000269|PubMed:17989303, ECO:0000269|PubMed:19094965,ECO:0000269|PubMed:20180862, ECO:0000269|PubMed:20921223}. |
| 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 |
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FusionGeneSequence for ATXN1_DTNBP1 |
| 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 ATXN1_DTNBP1 |
| 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 |
| ATXN1 | COIL, UBQLN4, ANP32A, USP7, ZHX1, PQBP1, GAPDH, UBE2E1, STUB1, SREBF2, NCOR2, ATXN1L, HDAC4, MYEF2, HSPA4, HSPA8, ATP6V0D1, TCEANC, GCFC2, CCNK, CDK6, NUDT21, CRK, BEND2, DAZAP2, EFEMP2, FAM46A, FAM46B, CPSF7, ZC3H10, METTL17, IST1, KLHL12, BATF2, C1orf94, NUMBL, SLC51A, OTX2, MED15, RHOXF2, PIM2, POM121, RBFOX2, RBPMS, CLASRP, TBC1D5, TCAP, TRAF2, TRIM32, ZBTB32, U2AF2, ZCCHC13, RBFOX1, ACACA, ATP1A3, PRRC2A, BTG3, VSTM2L, ZNF804A, CFL1, CIC, CLEC4F, FDPS, HIVEP1, GPATCH8, KLF11, HSFX1, RCN1, RNF31, YY1AP1, ZNF488, ATXN1, DMPK, SYBU, GMEB2, IPO8, MBP, PHPT1, SIX5, SREBF1, SGMS1, TTC19, APBB1, ATXN2, ATXN2L, FYN, HPCAL1, WNK1, SETD2, PRRC2B, PPP6R2, ZSWIM8, R3HDM2, NUTM2B, MTERF4, OAZ1, PUM1, RAPGEF4, ARHGAP32, SPEN, RAD54L2, UBE2E3, USP54, WNK2, ZNF276, ZHX2, ZHX3, ANKHD1, ARID5A, TOX4, CST3, DNAJA3, DZIP3, EIF1AY, EIF4ENIF1, ENTPD6, SUPT20H, FHL2, QRICH1, KIAA1549L, GCA, HSPA1A, ITGB4, KCNAB2, KIAA2026, IL34, KMT2B, KAT6A, CCDC136, NCOR1, NLK, NR4A1, PEPD, PRDM1, R3HDM1, STAC2, TOLLIP, TRIP6, UBAP2L, UBE2I, VSNL1, ZYX, CIRBP, AHDC1, PTGDS, ZC3H7B, ZNF609, ADCY6, ACOT7, DCTN3, ELP5, FAM21C, FAT4, FAM193B, GSPT1, KLHL8, LDB1, LOC401442, LRSAM1, MATN2, MYO18A, NARS, PSMC3, SAR1A, MSMO1, SUGP2, SMARCC2, ST6GALNAC6, UNK, TRIM38, STAM2, PIAS1, SV2A, SLC6A13, HNRNPLL, ZXDC, LASP1, TP53I11, CREM, LITAF, CHRNA7, SEMA4G, ZSCAN1, TSC1, KCTD15, TCTA, CDIP1, EIF1B, HEY2, DOCK5, ESRRA, RAI2, C2orf27B, TDP2, CLCN2, FAR1, FUBP3, CRY2, DHRSX, IMMT, PSPH, SLC25A51, MSX2, TMX2, SLC4A2, QKI, MLST8, PPAT, CRIP2, FOSL1, YWHAE, UHRF2, RBM26, NCAM1, LOXL1, BASP1, PLEKHB1, KIF22, BAALC, NPHP3, GATAD1, UHRF1BP1L, SF1, IGF2R, RAPGEF1, LPAR2, MAGEB18, GGA2, ADD3, ETV4, TOMM20, MAGEB2, WBSCR16, MAGEB6, HYPM, ASNS, HIST1H3A, HEYL, DIXDC1, OPCML, ATF5, CAMK2B, ILVBL, EHMT1, EIF3F, DHX37, HOTAIR, PML, RNF4, VCP, SUMO1, REL, TBX15, ESRP1, PRR20A | DTNBP1 | ABI3, ARFIP2, CCND3, DGCR6L, BLOC1S6, BLOC1S5, SNAPIN, BLOC1S1, BLOC1S2, BLOC1S3, OSBPL9, NBEA, IPO5, AKAP6, BRF1, TRIM9, RAB11A, EXOC7, PSME3, ZNF490, DST, GLTSCR1L, KIAA0408, SYNE1, EXOC4, SYBU, SFR1, DCTN1, TRAF3IP1, NUF2, MACF1, KALRN, SRGAP3, RBSN, CCNA2, TRIM2, TRIM32, NDN, DTNB, KIFC3, TRIM27, SDCBP, CCDC53, CCHCR1, C19orf66, BRK1, CCDC146, ELOVL7, IFT20, HAUS1, TXLNB, CCDC153, P4HA3, KANSL1, SSC5D, TEX35, TRIM74, C9orf16, VPS53, AP3M1, NCKAP1, IQGAP2, EXOC3, ASPM, PCNT, COG6, BLOC1S4, AP3D1, VPRBP, TACC1, BRCA2, SNTB2, KTN1, MYO5A, MYO5C, CCDC132, KIF5A, KIF5B, LAMC2, CYFIP2, CYFIP1, KIF3A, DTNA, VPS51, AP3B2, AP3B1, NAV1, STX5, CDK5RAP2, KLC2, KLC1, CETN3, COG5, ALMS1, CEP290, SLC25A16, ARFGEF2, EXOC5, EXOC6, SPAG5, FAM83H, BCAS4, MEF2BNB, CCDC22, AP3S1, C17orf59, COG7, STX8, SDCCAG3, EXOC1, VAMP8, KXD1, VTI1B, TSSC1, ABI1, TRAF7, EXOC6B, NHSL2, AP3S2, SNX7, COPZ1, COPE, XPO1, PTPRM, CCND2, CCND1, TRIM69, TSKS, GGA1, AKNAD1, TRAK2, TRIML2 |
| - 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 |
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RelatedDrugs for ATXN1_DTNBP1 |
| 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 |
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RelatedDiseases for ATXN1_DTNBP1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATXN1 | C0087012 | Ataxia, Spinocerebellar | 4 | CTD_human;HPO |
| Hgene | ATXN1 | C2362914 | clinical depression | 1 | PSYGENET |
| Tgene | DTNBP1 | C0005586 | Bipolar Disorder | 5 | PSYGENET |
| Tgene | DTNBP1 | C0041696 | Unipolar Depression | 5 | PSYGENET |
| Tgene | DTNBP1 | C1269683 | Major Depressive Disorder | 5 | PSYGENET |
| Tgene | DTNBP1 | C0011570 | Mental Depression | 4 | PSYGENET |
| Tgene | DTNBP1 | C0011581 | Depressive disorder | 4 | PSYGENET |
| Tgene | DTNBP1 | C0525045 | Mood Disorders | 3 | PSYGENET |
| Tgene | DTNBP1 | C0270458 | Severe major depression with psychotic features | 2 | PSYGENET |
| Tgene | DTNBP1 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | DTNBP1 | C0004936 | Mental disorders | 1 | CTD_human |
| Tgene | DTNBP1 | C0033937 | Psychoses, Drug | 1 | PSYGENET |
| Tgene | DTNBP1 | C0036341 | Schizophrenia | 1 | CTD_human |
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