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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: 32419

FusionGeneSummary for RUNX3_ZNF682

check button Fusion gene summary
Fusion gene informationFusion gene name: RUNX3_ZNF682
Fusion gene ID: 32419
HgeneTgene
Gene symbol

RUNX3

ZNF682

Gene ID

864

91120

Gene namerunt related transcription factor 3zinc finger protein 682
SynonymsAML2|CBFA3|PEBP2aCBC39498_3
Cytomap

1p36.11

19p12

Type of geneprotein-codingprotein-coding
Descriptionrunt-related transcription factor 3CBF-alpha-3PEA2 alpha CPEBP2 alpha CSL3-3 enhancer factor 1 alpha C subunitSL3/AKV core-binding factor alpha C subunitacute myeloid leukemia 2 proteinacute myeloid leukemia gene 2core-binding factor subunit alphazinc finger protein 682
Modification date2018052320180403
UniProtAcc

Q13761

O95780

Ensembl transtripts involved in fusion geneENST00000399916, ENST00000308873, 
ENST00000338888, ENST00000540420, 
ENST00000496967, 		ENST00000596019, 
ENST00000397162, ENST00000397165, 
ENST00000358523, ENST00000595736, 
ENST00000597972, ENST00000593468, 
ENST00000599240, 
Fusion gene scores* DoF score2 X 3 X 1=63 X 3 X 3=27
# samples 43
** MAII scorelog2(4/6*10)=2.73696559416621log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RUNX3 [Title/Abstract] AND ZNF682 [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
HgeneRUNX3

GO:0006468

protein phosphorylation

20100835

HgeneRUNX3

GO:0045893

positive regulation of transcription, DNA-templated

20599712

HgeneRUNX3

GO:0071559

response to transforming growth factor beta

20599712


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
ChiTaRS3.1AW868551RUNX3chr1

25225191

-ZNF682chr19

20133777

-
* 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-intronENST00000399916ENST00000596019RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000399916ENST00000397162RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000399916ENST00000397165RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000399916ENST00000358523RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000399916ENST00000595736RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000399916ENST00000597972RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000399916ENST00000593468RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000399916ENST00000599240RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000596019RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000397162RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000397165RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000358523RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000595736RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000597972RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000593468RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000308873ENST00000599240RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000596019RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000397162RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000397165RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000358523RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000595736RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000597972RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000593468RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000338888ENST00000599240RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000596019RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000397162RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000397165RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000358523RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000595736RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000597972RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000593468RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000540420ENST00000599240RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000596019RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000397162RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000397165RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000358523RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000595736RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000597972RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000593468RUNX3chr1

25225191

-ZNF682chr19

20133777

-
intron-intronENST00000496967ENST00000599240RUNX3chr1

25225191

-ZNF682chr19

20133777

-

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FusionProtFeatures for RUNX3_ZNF682


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RUNX3

Q13761

ZNF682

O95780

Forms the heterodimeric complex core-binding factor(CBF) with CBFB. RUNX members modulate the transcription of theirtarget genes through recognizing the core consensus bindingsequence 5'-TGTGGT-3', or very rarely, 5'-TGCGGT-3', within theirregulatory regions via their runt domain, while CBFB is a non-DNA-binding regulatory subunit that allosterically enhances thesequence-specific DNA-binding capacity of RUNX. The heterodimersbind to the core site of a number of enhancers and promoters,including murine leukemia virus, polyomavirus enhancer, T-cellreceptor enhancers, LCK, IL3 and GM-CSF promoters (By similarity).May be involved in the control of cellular proliferation and/ordifferentiation. In association with ZFHX3, upregulates CDKN1Apromoter activity following TGF-beta stimulation(PubMed:20599712). 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. CBF complexes binding to the transcriptionalsilencer is essential for recruitment of nuclear protein complexesthat catalyze epigenetic modifications to establish epigeneticZBTB7B silencing (By similarity). {ECO:0000250|UniProtKB:Q64131,ECO:0000269|PubMed:20599712}. May be involved in transcriptional regulation.

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 RUNX3_ZNF682


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 RUNX3_ZNF682


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 RUNX3_ZNF682


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 RUNX3_ZNF682


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRUNX3C0001418Adenocarcinoma1CTD_human
HgeneRUNX3C0007570Celiac Disease1CTD_human
HgeneRUNX3C0014859Esophageal Neoplasms1CTD_human
HgeneRUNX3C0017636Glioblastoma1CTD_human
HgeneRUNX3C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneRUNX3C0024121Lung Neoplasms1CTD_human
HgeneRUNX3C0032460Polycystic Ovary Syndrome1CTD_human
HgeneRUNX3C0033860Psoriasis1CTD_human
HgeneRUNX3C0038013Ankylosing spondylitis1CTD_human
HgeneRUNX3C0038356Stomach Neoplasms1CTD_human