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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: 5661

FusionGeneSummary for CBFA2T2_SNTA1

check button Fusion gene summary
Fusion gene informationFusion gene name: CBFA2T2_SNTA1
Fusion gene ID: 5661
HgeneTgene
Gene symbol

CBFA2T2

SNTA1

Gene ID

9139

6640

Gene nameCBFA2/RUNX1 translocation partner 2syntrophin alpha 1
SynonymsEHT|MTGR1|ZMYND3|p85LQT12|SNT1|TACIP1|dJ1187J4.5
Cytomap

20q11.21-q11.22

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionprotein CBFA2T2ETO homolog on chromosome 20ETO homologous on chromosome 20MTG8-like proteinMTG8-related protein 1core-binding factor, runt domain, alpha subunit 2; translocated to, 2myeloid translocation gene-related protein 1myeloid translocation-alpha-1-syntrophin59 kDa dystrophin-associated protein A1 acidic component 1acidic alpha 1 syntrophindystrophin-associated protein A1, 59kDa, acidic componentpro-TGF-alpha cytoplasmic domain-interacting protein 1syntrophin-1
Modification date2018052320180522
UniProtAcc

O43439

Q13424

Ensembl transtripts involved in fusion geneENST00000342704, ENST00000375279, 
ENST00000344201, ENST00000397798, 
ENST00000346541, ENST00000397800, 
ENST00000492345, ENST00000359606, 
ENST00000491618, ENST00000543126, 
ENST00000217381, 
Fusion gene scores* DoF score11 X 4 X 6=2643 X 2 X 3=18
# samples 123
** MAII scorelog2(12/264*10)=-1.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CBFA2T2 [Title/Abstract] AND SNTA1 [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
HgeneCBFA2T2

GO:0010976

positive regulation of neuron projection development

19026687

HgeneCBFA2T2

GO:0045892

negative regulation of transcription, DNA-templated

23251453


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
TCGARVSARCTCGA-X9-A971-01ACBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
* 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
In-frameENST00000342704ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
5UTR-3CDSENST00000375279ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000344201ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000397798ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000346541ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000397800ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000492345ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000359606ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000491618ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-
intron-3CDSENST00000543126ENST00000217381CBFA2T2chr20

32078107

+SNTA1chr20

32026832

-

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FusionProtFeatures for CBFA2T2_SNTA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CBFA2T2

O43439

SNTA1

Q13424

Adapter protein that binds to and probably organizes thesubcellular localization of a variety of membrane proteins. Maylink various receptors to the actin cytoskeleton and theextracellular matrix via the dystrophin glycoprotein complex.Plays an important role in synapse formation and in theorganization of UTRN and acetylcholine receptors at theneuromuscular synapse. Binds to phosphatidylinositol 4,5-bisphosphate (By similarity). {ECO:0000250}.

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
TgeneSNTA1chr20:32078107chr20:32026832ENST00000217381-08293_401103506DomainPH 2
TgeneSNTA1chr20:32078107chr20:32026832ENST00000217381-08449_505103506DomainNote=SU
TgeneSNTA1chr20:32078107chr20:32026832ENST00000217381-08483_505103506RegionCalmodulin-binding

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000342704+111451_49111596Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000344201+16451_491-123264Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000346541+112451_491-179605Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000359606+111451_491-13615Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000375279+112451_491-76605Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397798+17451_491-208264Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397800+111451_491-112576Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000492345+113451_491-229576Coiled coilOntology_term=ECO:0000255
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000342704+11133_9711596Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000344201+1633_97-123264Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000346541+11233_97-179605Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000359606+11133_97-13615Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000375279+11233_97-76605Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397798+1733_97-208264Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397800+11133_97-112576Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000492345+11333_97-229576Compositional biasNote=Pro-rich
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000342704+111113_20811596DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000344201+16113_208-123264DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000346541+112113_208-179605DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000359606+111113_208-13615DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000375279+112113_208-76605DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397798+17113_208-208264DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397800+111113_208-112576DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000492345+113113_208-229576DomainTAFH
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000342704+111331_37711596RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000342704+111435_48411596RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000344201+16331_377-123264RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000344201+16435_484-123264RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000346541+112331_377-179605RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000346541+112435_484-179605RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000359606+111331_377-13615RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000359606+111435_484-13615RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000375279+112331_377-76605RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000375279+112435_484-76605RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397798+17331_377-208264RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397798+17435_484-208264RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397800+111331_377-112576RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397800+111435_484-112576RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000492345+113331_377-229576RegionNervy homology region 2 (NHR2)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000492345+113435_484-229576RegionNervy homology region 3 (NHR3)
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000342704+111517_55311596Zinc fingerMYND-type
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000344201+16517_553-123264Zinc fingerMYND-type
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000346541+112517_553-179605Zinc fingerMYND-type
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000359606+111517_553-13615Zinc fingerMYND-type
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000375279+112517_553-76605Zinc fingerMYND-type
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397798+17517_553-208264Zinc fingerMYND-type
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397800+111517_553-112576Zinc fingerMYND-type
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000492345+113517_553-229576Zinc fingerMYND-type
TgeneSNTA1chr20:32078107chr20:32026832ENST00000217381-086_269103506DomainPH 1
TgeneSNTA1chr20:32078107chr20:32026832ENST00000217381-0887_170103506DomainPDZ


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FusionGeneSequence for CBFA2T2_SNTA1


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 CBFA2T2_SNTA1


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
CBFA2T2WDYHV1, MDFI, RUNX1T1, CBFA2T3, TAL1, RUNX1, GTF2E1, ID3, NEUROG1, TAL2, FBXL19, PRDM14, SIN3A, NCOR1, HDAC3, ATN1, ATXN1L, RERE, APP, LBP, TCP1, CBFA2T2, PDP1, NOTCH3, PRDM6, TCF4SNTA1KCNJ12, KCNJ4, XRCC6, GLS, DMD, UTRN, DGKZ, GRB2, SCN1A, SCN5A, NOS1, MAPK12, DTNA, MAGEE1, HTR2B, HTR2C, ADRA1D, ADRA2A, ADH5, AGTR2, NAT1, ATP2B2, ADAMTS6, ADRB1, BAI2, BAI3, C3AR1, CD3E, KCNA4, KCNA5, SCN4A, COPB1, FAM189B, GUCY1A2, SLC1A7, F8A1, FABP1, GOLGA2, GLS2, PRLHR, SLC2A3, GDA, LOC100289290, TLX3, IL2RA, IL9, KCNJ10, KCNJ15, ITGB5, PSKH1, MAP4, MAS1, MCM7, SLC16A7, MTMR2, NMU, SLC6A3, PFN2, LMO1, SCTR, SSTR1, TGFA, TRA, TRBV12-3, ATP6V0B, MLC1, BAI1, ABCC4, GNAT3, SLC34A3, NEB, PLCB3, RGS11, RYR2, STAM, SPZ1, SNTG2, HMG20A, NDEL1, TENC1


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
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000342704+111107_21511596PRDM14
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000344201+16107_215-123264PRDM14
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000346541+112107_215-179605PRDM14
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000359606+111107_215-13615PRDM14
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000375279+112107_215-76605PRDM14
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397798+17107_215-208264PRDM14
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000397800+111107_215-112576PRDM14
HgeneCBFA2T2chr20:32078107chr20:32026832ENST00000492345+113107_215-229576PRDM14


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CBFA2T2_SNTA1


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 CBFA2T2_SNTA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSNTA1C2751830Long Qt Syndrome 122CTD_human;UNIPROT
TgeneSNTA1C0038220Status Epilepticus1CTD_human