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Fusion gene ID: 3578 |
FusionGeneSummary for ATXN1_LRBA |
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Fusion gene information | Fusion gene name: ATXN1_LRBA | Fusion gene ID: 3578 | Hgene | Tgene | Gene symbol | ATXN1 | LRBA | Gene ID | 6310 | 987 |
Gene name | ataxin 1 | LPS responsive beige-like anchor protein | |
Synonyms | ATX1|D6S504E|SCA1 | BGL|CDC4L|CVID8|LAB300|LBA | |
Cytomap | 6p22.3 | 4q31.3 | |
Type of gene | protein-coding | protein-coding | |
Description | ataxin-1alternative ataxin1spinocerebellar ataxia type 1 protein | lipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | P54253 | P50851 | |
Ensembl transtripts involved in fusion gene | ENST00000244769, ENST00000436367, ENST00000467008, | ENST00000535741, ENST00000510413, ENST00000503716, ENST00000357115, ENST00000507224, | |
Fusion gene scores | * DoF score | 20 X 12 X 9=2160 | 15 X 15 X 7=1575 |
# samples | 21 | 18 | |
** MAII score | log2(21/2160*10)=-3.36257007938471 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1575*10)=-3.12928301694497 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ATXN1 [Title/Abstract] AND LRBA [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) |
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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 |
![]() (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 | AW889608 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000244769 | ENST00000535741 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000244769 | ENST00000510413 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000244769 | ENST00000503716 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000244769 | ENST00000357115 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000244769 | ENST00000507224 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000436367 | ENST00000535741 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000436367 | ENST00000510413 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000436367 | ENST00000503716 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000436367 | ENST00000357115 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000436367 | ENST00000507224 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000467008 | ENST00000535741 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000467008 | ENST00000510413 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000467008 | ENST00000503716 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000467008 | ENST00000357115 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
intron-intron | ENST00000467008 | ENST00000507224 | ATXN1 | chr6 | 16714735 | - | LRBA | chr4 | 151289156 | + |
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FusionProtFeatures for ATXN1_LRBA |
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Hgene | Tgene |
ATXN1 | LRBA |
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}. | May be involved in coupling signal transduction andvesicle trafficking to enable polarized secretion and/or membranedeposition of immune effector molecules. {ECO:0000250}. |
![]() * 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_LRBA |
![]() (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_LRBA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ATXN1_LRBA |
![]() (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_LRBA |
![]() (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 | LRBA | C3553512 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY | 1 | ORPHANET;UNIPROT |