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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: 5665

FusionGeneSummary for CBFB_ATP13A3

check button Fusion gene summary
Fusion gene informationFusion gene name: CBFB_ATP13A3
Fusion gene ID: 5665
HgeneTgene
Gene symbol

CBFB

ATP13A3

Gene ID

865

79572

Gene namecore-binding factor subunit betaATPase 13A3
SynonymsPEBP2BAFURS1
Cytomap

16q22.1

3q29

Type of geneprotein-codingprotein-coding
Descriptioncore-binding factor subunit betaCBF-betaPEA2-betaPEBP2-betaSL3-3 enhancer factor 1 beta subunitSL3-3 enhancer factor 1 subunit betaSL3/AKV core-binding factor beta subunitcore-binding factor beta subunitpolyomavirus enhancer binding protein 2, betprobable cation-transporting ATPase 13A3ATPase family homolog up-regulated in senescence cells 1ATPase type 13A3
Modification date2018052320180523
UniProtAcc

Q13951

Q9H7F0

Ensembl transtripts involved in fusion geneENST00000561924, ENST00000290858, 
ENST00000412916, ENST00000568858, 
ENST00000439040, ENST00000256031, 
Fusion gene scores* DoF score14 X 14 X 9=17642 X 5 X 2=20
# samples 265
** MAII scorelog2(26/1764*10)=-2.76226703252907
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CBFB [Title/Abstract] AND ATP13A3 [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

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
TCGARVHNSCTCGA-CR-7388-01ACBFBchr16

67070658

+ATP13A3chr3

194182965

-
TCGALDHNSCTCGA-CR-7388-01ACBFBchr16

67063716

+ATP13A3chr3

194182965

-
* 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-5UTRENST00000561924ENST00000439040CBFBchr16

67070658

+ATP13A3chr3

194182965

-
5UTR-5UTRENST00000561924ENST00000256031CBFBchr16

67070658

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000290858ENST00000439040CBFBchr16

67070658

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000290858ENST00000256031CBFBchr16

67070658

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000439040CBFBchr16

67070658

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000256031CBFBchr16

67070658

+ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000439040CBFBchr16

67070658

+ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000256031CBFBchr16

67070658

+ATP13A3chr3

194182965

-
5UTR-5UTRENST00000561924ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5UTR-5UTRENST00000561924ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000290858ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000290858ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
5CDS-5UTRENST00000412916ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000439040CBFBchr16

67063716

+ATP13A3chr3

194182965

-
intron-5UTRENST00000568858ENST00000256031CBFBchr16

67063716

+ATP13A3chr3

194182965

-

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FusionProtFeatures for CBFB_ATP13A3


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

Q13951

ATP13A3

Q9H7F0

Forms the heterodimeric complex core-binding factor(CBF) with RUNX family proteins (RUNX1, RUNX2, and RUNX3). RUNXmembers modulate the transcription of their target genes throughrecognizing the core consensus binding sequence 5'-TGTGGT-3', orvery rarely, 5'-TGCGGT-3', within their regulatory regions viatheir runt domain, while CBFB is a non-DNA-binding regulatorysubunit that allosterically enhances the sequence-specific DNA-binding capacity of RUNX. The heterodimers bind to the core siteof a number of enhancers and promoters, including murine leukemiavirus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3and GM-CSF promoters. CBF complexes repress ZBTB7B transcriptionfactor during cytotoxic (CD8+) T cell development. They bind toRUNX-binding sequence within the ZBTB7B locus acting astranscriptional silencer and allowing for cytotoxic T celldifferentiation. {ECO:0000250|UniProtKB:Q08024}.

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 CBFB_ATP13A3


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 CBFB_ATP13A3


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
CBFBCHGB, RUNX1, MYOD1, RUNX3, COPRS, KMT2A, ELAVL1, CUL5, APOBEC3G, MYC, RAB2A, TCEB1, RNF7, TCEB2, RUNX2, ARL6IP6, SERPINB5, SLC25A32, TAS2R41, CRIP1, GALK1, PPIA, SOD1, NFATC1, GCHFR, G3BP1ATP13A3LGALS3, LGALS8, LGALS9, P2RY8, ISLR, YIPF3, C5AR2, GPR114, TPRA1, TMCO3, MAS1


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 CBFB_ATP13A3


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 CBFB_ATP13A3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCBFBC0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneCBFBC0005941Bone Diseases, Developmental1CTD_human
HgeneCBFBC0008925Cleft Palate1CTD_human
HgeneCBFBC0018798Congenital Heart Defects1CTD_human
HgeneCBFBC0023479Acute myelomonocytic leukemia1CTD_human;ORPHANET
HgeneCBFBC0029396Heterotopic Ossification1CTD_human