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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: 30195

FusionGeneSummary for RAD54B_HNRNPA2B1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAD54B_HNRNPA2B1
Fusion gene ID: 30195
HgeneTgene
Gene symbol

RAD54B

HNRNPA2B1

Gene ID

25788

3181

Gene nameRAD54 homolog Bheterogeneous nuclear ribonucleoprotein A2/B1
SynonymsRDH54HNRNPA2|HNRNPB1|HNRPA2|HNRPA2B1|HNRPB1|IBMPFD2|RNPA2|SNRPB1
Cytomap

8q22.1

7p15.2

Type of geneprotein-codingprotein-coding
DescriptionDNA repair and recombination protein RAD54Bheterogeneous nuclear ribonucleoproteins A2/B1HNRNPA2B1/MYC fusionhnRNP A2 / hnRNP B1nuclear ribonucleoprotein particle A2 protein
Modification date2018051920180523
UniProtAcc

Q9Y620

P22626

Ensembl transtripts involved in fusion geneENST00000336148, ENST00000519348, 
ENST00000297592, 
ENST00000476233, 
ENST00000354667, ENST00000356674, 
Fusion gene scores* DoF score1 X 1 X 1=115 X 19 X 2=570
# samples 221
** MAII scorelog2(2/1*10)=4.32192809488736log2(21/570*10)=-1.44057259138598
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAD54B [Title/Abstract] AND HNRNPA2B1 [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
HgeneRAD54B

GO:0000724

double-strand break repair via homologous recombination

16428451

TgeneHNRNPA2B1

GO:0006397

mRNA processing

2557628

TgeneHNRNPA2B1

GO:0006406

mRNA export from nucleus

10567417

TgeneHNRNPA2B1

GO:0031053

primary miRNA processing

26321680

TgeneHNRNPA2B1

GO:0050658

RNA transport

17004321

TgeneHNRNPA2B1

GO:1990428

miRNA transport

24356509


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
ChiTaRS3.1BF916091RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
ChiTaRS3.1BF907199RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
* 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-intronENST00000336148ENST00000476233RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000336148ENST00000354667RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000336148ENST00000356674RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000519348ENST00000476233RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000519348ENST00000354667RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000519348ENST00000356674RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000297592ENST00000476233RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000297592ENST00000354667RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-
intron-intronENST00000297592ENST00000356674RAD54Bchr8

95416440

+HNRNPA2B1chr7

26233254

-

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FusionProtFeatures for RAD54B_HNRNPA2B1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAD54B

Q9Y620

HNRNPA2B1

P22626

Involved in DNA repair and mitotic recombination. Mayplay an active role in recombination processes in concert withother members of the RAD52 epistasis group.{ECO:0000269|PubMed:11782437, ECO:0000269|PubMed:11884632}. Heterogeneous nuclear ribonucleoprotein (hnRNP) thatassociates with nascent pre-mRNAs, packaging them into hnRNPparticles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilizethe transcripts and minimize tangling and knotting. Packagingplays a role in various processes such as transcription, pre-mRNAprocessing, RNA nuclear export, subcellular location, mRNAtranslation and stability of mature mRNAs (PubMed:19099192). FormshnRNP particles with at least 20 other different hnRNP andheterogeneous nuclear RNA in the nucleus. Involved in transport ofspecific mRNAs to the cytoplasm in oligodendrocytes and neurons:acts by specifically recognizing and binding the A2RE (21nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11nucleotide oligonucleotide) sequence motifs present on some mRNAs,and promotes their transport to the cytoplasm (PubMed:10567417).Specifically binds single-stranded telomeric DNA sequences,protecting telomeric DNA repeat against endonuclease digestion (Bysimilarity). Also binds other RNA molecules, such as primary miRNA(pri-miRNAs): acts as a nuclear 'reader' of the N6-methyladenosine(m6A) mark by specifically recognizing and binding a subset ofnuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8to pri-miRNA transcripts (PubMed:26321680). Involved in miRNAsorting into exosomes following sumoylation, possibly by binding(m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulatorof efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680).{ECO:0000250|UniProtKB:A7VJC2, ECO:0000269|PubMed:10567417,ECO:0000269|PubMed:24356509, ECO:0000269|PubMed:26321680,ECO:0000303|PubMed:19099192}. (Microbial infection) Involved in the transport of HIV-1genomic RNA out of the nucleus, to the microtubule organizingcenter (MTOC), and then from the MTOC to the cytoplasm: acts byspecifically recognizing and binding the A2RE (21 nucleotide hnRNPA2 response element) sequence motifs present on HIV-1 genomic RNA,and promotes its transport. {ECO:0000269|PubMed:15294897,ECO:0000269|PubMed:17004321}.

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 RAD54B_HNRNPA2B1


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 RAD54B_HNRNPA2B1


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 RAD54B_HNRNPA2B1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHNRNPA2B1P22626DB11638ArtenimolHeterogeneous nuclear ribonucleoproteins A2/B1small moleculeapproved|investigational

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RelatedDiseases for RAD54B_HNRNPA2B1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHNRNPA2B1C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
TgeneHNRNPA2B1C3809468INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 21UNIPROT