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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: 30171

FusionGeneSummary for RAD51AP1_ATN1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAD51AP1_ATN1
Fusion gene ID: 30171
HgeneTgene
Gene symbol

RAD51AP1

ATN1

Gene ID

10635

1822

Gene nameRAD51 associated protein 1atrophin 1
SynonymsPIR51B37|D12S755E|DRPLA|HRS|NOD
Cytomap

12p13.32

12p13.31

Type of geneprotein-codingprotein-coding
DescriptionRAD51-associated protein 1RAD51-interacting proteinatrophin-1dentatorubral-pallidoluysian atrophy protein
Modification date2018052220180523
UniProtAcc

Q96B01

P54259

Ensembl transtripts involved in fusion geneENST00000321524, ENST00000543041, 
ENST00000228843, ENST00000352618, 
ENST00000544927, ENST00000544931, 
ENST00000356654, ENST00000396684, 
Fusion gene scores* DoF score3 X 3 X 2=188 X 8 X 2=128
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAD51AP1 [Title/Abstract] AND ATN1 [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
HgeneRAD51AP1

GO:0010569

regulation of double-strand break repair via homologous recombination

23754376

HgeneRAD51AP1

GO:0071479

cellular response to ionizing radiation

23754376

TgeneATN1

GO:0000122

negative regulation of transcription by RNA polymerase II

10973986

TgeneATN1

GO:0051402

neuron apoptotic process

10085113


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
TCGARVLUSCTCGA-85-8584-01ARAD51AP1chr12

4658002

+ATN1chr12

7047008

+
* 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
Frame-shiftENST00000321524ENST00000356654RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000321524ENST00000396684RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000543041ENST00000356654RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000543041ENST00000396684RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000228843ENST00000356654RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000228843ENST00000396684RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000352618ENST00000356654RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000352618ENST00000396684RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000544927ENST00000356654RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
Frame-shiftENST00000544927ENST00000396684RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
intron-3CDSENST00000544931ENST00000356654RAD51AP1chr12

4658002

+ATN1chr12

7047008

+
intron-3CDSENST00000544931ENST00000396684RAD51AP1chr12

4658002

+ATN1chr12

7047008

+

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FusionProtFeatures for RAD51AP1_ATN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAD51AP1

Q96B01

ATN1

P54259

May participate in a common DNA damage response pathwayassociated with the activation of homologous recombination anddouble-strand break repair. Functionally cooperates with PALB2 inpromoting of D-loop formation by RAD51. Binds to single and doublestranded DNA, and is capable of aggregating DNA. Also binds RNA.{ECO:0000269|PubMed:20871616, ECO:0000269|PubMed:9396801}. Transcriptional corepressor. Recruits NR2E1 to represstranscription. Promotes vascular smooth cell (VSMC) migration andorientation (By similarity). Corepressor of MTG8 transcriptionalrepression. Has some intrinsic repression activity which isindependent of the number of poly-Gln (polyQ) repeats.{ECO:0000250, ECO:0000269|PubMed:10085113,ECO:0000269|PubMed:10973986}.

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 RAD51AP1_ATN1


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 RAD51AP1_ATN1


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
RAD51AP1RAD51, USP12, USP46, WDR48, PALB2, NEDD4, APP, SIAH1, MAP3K1, JUP, IGHG2, IGHG3, IGHG4, USP1, HIST1H2BGATN1KAT7, TLE1, VIM, RERE, BAIAP2, CTNND2, DVL1, LYST, MAGI2, ITCH, WWP2, WWP1, MAGI1, GIGYF2, NR2E1, RUNX1T1, TERF1, TERF2, RNF115, EWSR1, GCC1, KRTAP4-12, LENG8, MDFI, CRACR2A, NCK2, RHOXF2, PLSCR1, PSME3, RBPMS, TRIP6, WDR5, RBFOX1, AGRN, ATN1, BAG6, CACNB1, CBFA2T2, CENPJ, CHRD, CRIP2, DVL2, EFEMP1, EFEMP2, MEGF6, MEGF8, FBLN1, GAPDH, GRN, HSPG2, JAG2, SSPO, LTBP1, LTBP4, MBP, MEGF11, NELL1, NELL2, GIGYF1, PFKL, RCHY1, SLIT1, STXBP4, SYVN1, TEP1, ZMYND8, RBM10, ALG13, FBLN5, LRP2, PCSK5, PSMA3, AES, ARF3, PRRC2A, NOC2L, DMPK, ECM1, FBLN2, MAP7D1, PRRC2B, ZSWIM8, KRT31, KAT6A, KAT6B, RBFOX2, RNF31, SIAH1, SIAH2, SPAG5, RAD54L2, USP54, HINFP, WWOX, AUTS2, TRIM25


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 RAD51AP1_ATN1


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 RAD51AP1_ATN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource