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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: 30192

FusionGeneSummary for RAD52_KDM5A

check button Fusion gene summary
Fusion gene informationFusion gene name: RAD52_KDM5A
Fusion gene ID: 30192
HgeneTgene
Gene symbol

RAD52

KDM5A

Gene ID

5893

5927

Gene nameRAD52 homolog, DNA repair proteinlysine demethylase 5A
Synonyms-RBBP-2|RBBP2|RBP2
Cytomap

12p13.33

12p13.33

Type of geneprotein-codingprotein-coding
DescriptionDNA repair protein RAD52 homologrecombination protein RAD52rhabdomyosarcoma antigen MU-RMS-40.23lysine-specific demethylase 5AJumonji, AT rich interactive domain 1A (RBP2-like)histone demethylase JARID1Ajumonji/ARID domain-containing protein 1Alysine (K)-specific demethylase 5Aretinoblastoma binding protein 2
Modification date2018052320180523
UniProtAcc

P43351

P29375

Ensembl transtripts involved in fusion geneENST00000358495, ENST00000430095, 
ENST00000539046, ENST00000536177, 
ENST00000544742, ENST00000541619, 
ENST00000535376, ENST00000545564, 
ENST00000399788, ENST00000540838, 
ENST00000382815, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 5 X 2=50
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/50*10)=0.263034405833794
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RAD52 [Title/Abstract] AND KDM5A [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
HgeneRAD52

GO:0010792

DNA double-strand break processing involved in repair via single-strand annealing

19506022

HgeneRAD52

GO:0034599

cellular response to oxidative stress

19506022

HgeneRAD52

GO:2000819

regulation of nucleotide-excision repair

19506022

TgeneKDM5A

GO:0033169

histone H3-K9 demethylation

18270511

TgeneKDM5A

GO:0034720

histone H3-K4 demethylation

18270511

TgeneKDM5A

GO:0045893

positive regulation of transcription, DNA-templated

11358960


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
TCGALDREADTCGA-DY-A1DD-01ARAD52chr12

1058768

-KDM5Achr12

465703

-
* 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
5UTR-3CDSENST00000358495ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000358495ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000358495ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-3CDSENST00000430095ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-intronENST00000430095ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-intronENST00000430095ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-3CDSENST00000539046ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000539046ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000539046ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-3CDSENST00000536177ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000536177ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000536177ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-3CDSENST00000544742ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000544742ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000544742ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-3CDSENST00000541619ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000541619ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
5UTR-intronENST00000541619ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-3CDSENST00000535376ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-intronENST00000535376ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-intronENST00000535376ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-3CDSENST00000545564ENST00000399788RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-intronENST00000545564ENST00000540838RAD52chr12

1058768

-KDM5Achr12

465703

-
intron-intronENST00000545564ENST00000382815RAD52chr12

1058768

-KDM5Achr12

465703

-

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FusionProtFeatures for RAD52_KDM5A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAD52

P43351

KDM5A

P29375

Involved in double-stranded break repair. Plays acentral role in genetic recombination and DNA repair by promotingthe annealing of complementary single-stranded DNA and bystimulation of the RAD51 recombinase.{ECO:0000269|PubMed:12379650, ECO:0000269|PubMed:8702565}. Histone demethylase that specifically demethylates 'Lys-4' of histone H3, thereby playing a central role in histone code.Does not demethylate histone H3 'Lys-9', H3 'Lys-27', H3 'Lys-36',H3 'Lys-79' or H4 'Lys-20'. Demethylates trimethylated anddimethylated but not monomethylated H3 'Lys-4'. Regulates specificgene transcription through DNA-binding on 5'-CCGCCC-3' motif(PubMed:18270511). May stimulate transcription mediated by nuclearreceptors. Involved in transcriptional regulation of Hox proteinsduring cell differentiation (PubMed:19430464). May participate intranscriptional repression of cytokines such as CXCL12. Plays arole in the regulation of the circadian rhythm and in maintainingthe normal periodicity of the circadian clock. In a histonedemethylase-independent manner, acts as a coactivator of theCLOCK-ARNTL/BMAL1-mediated transcriptional activation of PER1/2and other clock-controlled genes and increases histone acetylationat PER1/2 promoters by inhibiting the activity of HDAC1 (Bysimilarity). Seems to act as a transcriptional corepressor forsome genes such as MT1F and to favor the proliferation of cancercells (PubMed:27427228). {ECO:0000250|UniProtKB:Q3UXZ9,ECO:0000269|PubMed:11358960, ECO:0000269|PubMed:15949438,ECO:0000269|PubMed:17320160, ECO:0000269|PubMed:17320161,ECO:0000269|PubMed:17320163, ECO:0000269|PubMed:18270511,ECO:0000269|PubMed:19430464, ECO:0000269|PubMed:27427228}.

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 RAD52_KDM5A


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 RAD52_KDM5A


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
RAD52RAD51, RPA2, SUMO1, RPA1, UBE2I, WRN, RAD52, ERCC3, ERCC2, POLR2A, GNAI1, RPA3, PFN1, ACTB, YWHAZ, YWHAE, HSPD1, HSPA4, HSPA8, HSP90AA1, PRDX1, PRDX2, EEF1A1, EEF1G, EEF1D, LDHB, GAPDH, CKB, ENO1, ALDOA, RPS10, RPS19, PPIA, ARFGAP1, TUBA1A, DAZAP1, SEC13, NANOG, AURKB, TTKKDM5ALMO2, ESR1, RARA, NR3C1, VDR, RB1, TBP, RBL1, HIST2H3A, MXD1, EZH2, EED, SUZ12, MORF4L1, MORF4L2, SIN3B, HDAC2, RBPJ, HDAC1, HIST3H3, GATAD1, RBBP7, TM9SF4, PHF12, FOXK2, C11orf30, ZNF131, 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 RAD52_KDM5A


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 RAD52_KDM5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneKDM5AC3714756Intellectual Disability1CTD_human