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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: 3578

FusionGeneSummary for ATXN1_LRBA

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN1_LRBA
Fusion gene ID: 3578
HgeneTgene
Gene symbol

ATXN1

LRBA

Gene ID

6310

987

Gene nameataxin 1LPS responsive beige-like anchor protein
SynonymsATX1|D6S504E|SCA1BGL|CDC4L|CVID8|LAB300|LBA
Cytomap

6p22.3

4q31.3

Type of geneprotein-codingprotein-coding
Descriptionataxin-1alternative ataxin1spinocerebellar ataxia type 1 proteinlipopolysaccharide-responsive and beige-like anchor proteinCDC4-like proteinLPS-responsive vesicle trafficking, beach and anchor containingvesicle trafficking, beach and anchor containing
Modification date2018052220180519
UniProtAcc

P54253

P50851

Ensembl transtripts involved in fusion geneENST00000244769, ENST00000436367, 
ENST00000467008, 
ENST00000535741, 
ENST00000510413, ENST00000503716, 
ENST00000357115, ENST00000507224, 
Fusion gene scores* DoF score20 X 12 X 9=216015 X 15 X 7=1575
# samples 2118
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneATXN1

GO:0045892

negative regulation of transcription, DNA-templated

15016912

HgeneATXN1

GO:0051168

nuclear export

15615787


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
ChiTaRS3.1AW889608ATXN1chr6

16714735

-LRBAchr4

151289156

+
* 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-intronENST00000244769ENST00000535741ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000244769ENST00000510413ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000244769ENST00000503716ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000244769ENST00000357115ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000244769ENST00000507224ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000436367ENST00000535741ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000436367ENST00000510413ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000436367ENST00000503716ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000436367ENST00000357115ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000436367ENST00000507224ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000467008ENST00000535741ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000467008ENST00000510413ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000467008ENST00000503716ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000467008ENST00000357115ATXN1chr6

16714735

-LRBAchr4

151289156

+
intron-intronENST00000467008ENST00000507224ATXN1chr6

16714735

-LRBAchr4

151289156

+

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FusionProtFeatures for ATXN1_LRBA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATXN1

P54253

LRBA

P50851

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}.

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 ATXN1_LRBA


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 ATXN1_LRBA


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 ATXN1_LRBA


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 ATXN1_LRBA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN1C0087012Ataxia, Spinocerebellar4CTD_human;HPO
HgeneATXN1C2362914clinical depression1PSYGENET
TgeneLRBAC3553512IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY1ORPHANET;UNIPROT