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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: 3592

FusionGeneSummary for ATXN2_RBBP8

check button Fusion gene summary
Fusion gene informationFusion gene name: ATXN2_RBBP8
Fusion gene ID: 3592
HgeneTgene
Gene symbol

ATXN2

RBBP8

Gene ID

6311

5932

Gene nameataxin 2RB binding protein 8, endonuclease
SynonymsATX2|SCA2|TNRC13COM1|CTIP|JWDS|RIM|SAE2|SCKL2
Cytomap

12q24.12

18q11.2

Type of geneprotein-codingprotein-coding
Descriptionataxin-2spinocerebellar ataxia type 2 proteintrinucleotide repeat-containing gene 13 proteinDNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homolog
Modification date2018052320180523
UniProtAcc

Q99700

Q99708

Ensembl transtripts involved in fusion geneENST00000389153, ENST00000608853, 
ENST00000377617, ENST00000550104, 
ENST00000542287, ENST00000535949, 
ENST00000549455, 
ENST00000327155, 
ENST00000399722, ENST00000399725, 
ENST00000360790, ENST00000581687, 
Fusion gene scores* DoF score10 X 10 X 6=6008 X 8 X 5=320
# samples 1311
** MAII scorelog2(13/600*10)=-2.20645087746743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/320*10)=-1.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATXN2 [Title/Abstract] AND RBBP8 [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
TgeneRBBP8

GO:0000724

double-strand break repair via homologous recombination

20829486


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
ChiTaRS3.1AA773762ATXN2chr12

111890334

+RBBP8chr18

20581625

+
* 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-3CDSENST00000389153ENST00000327155ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000389153ENST00000399722ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000389153ENST00000399725ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000389153ENST00000360790ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-intronENST00000389153ENST00000581687ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000608853ENST00000327155ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000608853ENST00000399722ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000608853ENST00000399725ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000608853ENST00000360790ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-intronENST00000608853ENST00000581687ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000377617ENST00000327155ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000377617ENST00000399722ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000377617ENST00000399725ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000377617ENST00000360790ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-intronENST00000377617ENST00000581687ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000550104ENST00000327155ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000550104ENST00000399722ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000550104ENST00000399725ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000550104ENST00000360790ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-intronENST00000550104ENST00000581687ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000542287ENST00000327155ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000542287ENST00000399722ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000542287ENST00000399725ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000542287ENST00000360790ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-intronENST00000542287ENST00000581687ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000535949ENST00000327155ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000535949ENST00000399722ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000535949ENST00000399725ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000535949ENST00000360790ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-intronENST00000535949ENST00000581687ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000549455ENST00000327155ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000549455ENST00000399722ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000549455ENST00000399725ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-3CDSENST00000549455ENST00000360790ATXN2chr12

111890334

+RBBP8chr18

20581625

+
intron-intronENST00000549455ENST00000581687ATXN2chr12

111890334

+RBBP8chr18

20581625

+

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FusionProtFeatures for ATXN2_RBBP8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATXN2

Q99700

RBBP8

Q99708

Involved in EGFR trafficking, acting as negativeregulator of endocytic EGFR internalization at the plasmamembrane. {ECO:0000269|PubMed:18602463}. Endonuclease that cooperates with the MRE11-RAD50-NBN(MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination(HR) pathway. HR is restricted to S and G2 phases of the cellcycle and preferentially repairs DSBs resulting from replicationfork collapse. Key determinant of DSB repair pathway choice, as itcommits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM,promotes ATR activation and its recruitment to DSBs in the S/G2phase facilitating the generation of ssDNA. Component of theBRCA1-RBBP8 complex that regulates CHEK1 activation and controlscell cycle G2/M checkpoints on DNA damage (PubMed:10764811,PubMed:10910365, PubMed:15485915, PubMed:16581787,PubMed:16818604, PubMed:17965729, PubMed:19202191,PubMed:19759395, PubMed:20064462, PubMed:20829486). Duringimmunoglobulin heavy chain class-switch recombination, promotesmicrohomology-mediated alternative end joining (A-NHEJ) and playsan essential role in chromosomal translocations (By similarity).{ECO:0000250|UniProtKB:Q80YR6, ECO:0000269|PubMed:10764811,ECO:0000269|PubMed:10910365, ECO:0000269|PubMed:15485915,ECO:0000269|PubMed:16581787, ECO:0000269|PubMed:16818604,ECO:0000269|PubMed:17965729, ECO:0000269|PubMed:19202191,ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:20064462,ECO:0000269|PubMed:20829486}.

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 ATXN2_RBBP8


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 ATXN2_RBBP8


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 ATXN2_RBBP8


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 ATXN2_RBBP8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATXN2C0087012Ataxia, Spinocerebellar2CTD_human
HgeneATXN2C0036341Schizophrenia1PSYGENET
HgeneATXN2C0339573Glaucoma, Primary Open Angle1CTD_human
TgeneRBBP8C1847572SECKEL SYNDROME 21UNIPROT