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Fusion gene ID: 5661 |
FusionGeneSummary for CBFA2T2_SNTA1 |
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Fusion gene information | Fusion gene name: CBFA2T2_SNTA1 | Fusion gene ID: 5661 | Hgene | Tgene | Gene symbol | CBFA2T2 | SNTA1 | Gene ID | 9139 | 6640 |
Gene name | CBFA2/RUNX1 translocation partner 2 | syntrophin alpha 1 | |
Synonyms | EHT|MTGR1|ZMYND3|p85 | LQT12|SNT1|TACIP1|dJ1187J4.5 | |
Cytomap | 20q11.21-q11.22 | 20q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | protein 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 date | 20180523 | 20180522 | |
UniProtAcc | O43439 | Q13424 | |
Ensembl transtripts involved in fusion gene | ENST00000342704, ENST00000375279, ENST00000344201, ENST00000397798, ENST00000346541, ENST00000397800, ENST00000492345, ENST00000359606, ENST00000491618, ENST00000543126, | ENST00000217381, | |
Fusion gene scores | * DoF score | 11 X 4 X 6=264 | 3 X 2 X 3=18 |
# samples | 12 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CBFA2T2 | GO:0010976 | positive regulation of neuron projection development | 19026687 |
Hgene | CBFA2T2 | GO:0045892 | negative regulation of transcription, DNA-templated | 23251453 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | SARC | TCGA-X9-A971-01A | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000342704 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
5UTR-3CDS | ENST00000375279 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000344201 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000397798 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000346541 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000397800 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000492345 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000359606 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000491618 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
intron-3CDS | ENST00000543126 | ENST00000217381 | CBFA2T2 | chr20 | 32078107 | + | SNTA1 | chr20 | 32026832 | - |
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FusionProtFeatures for CBFA2T2_SNTA1 |
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Hgene | Tgene |
CBFA2T2 | SNTA1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Tgene | >SNTA1 | chr20:32078107 | chr20:32026832 | ENST00000217381 | - | 0 | 8 | 293_401 | 103 | 506 | Domain | PH 2 |
Tgene | >SNTA1 | chr20:32078107 | chr20:32026832 | ENST00000217381 | - | 0 | 8 | 449_505 | 103 | 506 | Domain | Note=SU |
Tgene | >SNTA1 | chr20:32078107 | chr20:32026832 | ENST00000217381 | - | 0 | 8 | 483_505 | 103 | 506 | Region | Calmodulin-binding |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000342704 | + | 1 | 11 | 451_491 | 11 | 596 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000344201 | + | 1 | 6 | 451_491 | -123 | 264 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000346541 | + | 1 | 12 | 451_491 | -179 | 605 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000359606 | + | 1 | 11 | 451_491 | -13 | 615 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000375279 | + | 1 | 12 | 451_491 | -76 | 605 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397798 | + | 1 | 7 | 451_491 | -208 | 264 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397800 | + | 1 | 11 | 451_491 | -112 | 576 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000492345 | + | 1 | 13 | 451_491 | -229 | 576 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000342704 | + | 1 | 11 | 33_97 | 11 | 596 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000344201 | + | 1 | 6 | 33_97 | -123 | 264 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000346541 | + | 1 | 12 | 33_97 | -179 | 605 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000359606 | + | 1 | 11 | 33_97 | -13 | 615 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000375279 | + | 1 | 12 | 33_97 | -76 | 605 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397798 | + | 1 | 7 | 33_97 | -208 | 264 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397800 | + | 1 | 11 | 33_97 | -112 | 576 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000492345 | + | 1 | 13 | 33_97 | -229 | 576 | Compositional bias | Note=Pro-rich |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000342704 | + | 1 | 11 | 113_208 | 11 | 596 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000344201 | + | 1 | 6 | 113_208 | -123 | 264 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000346541 | + | 1 | 12 | 113_208 | -179 | 605 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000359606 | + | 1 | 11 | 113_208 | -13 | 615 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000375279 | + | 1 | 12 | 113_208 | -76 | 605 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397798 | + | 1 | 7 | 113_208 | -208 | 264 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397800 | + | 1 | 11 | 113_208 | -112 | 576 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000492345 | + | 1 | 13 | 113_208 | -229 | 576 | Domain | TAFH |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000342704 | + | 1 | 11 | 331_377 | 11 | 596 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000342704 | + | 1 | 11 | 435_484 | 11 | 596 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000344201 | + | 1 | 6 | 331_377 | -123 | 264 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000344201 | + | 1 | 6 | 435_484 | -123 | 264 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000346541 | + | 1 | 12 | 331_377 | -179 | 605 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000346541 | + | 1 | 12 | 435_484 | -179 | 605 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000359606 | + | 1 | 11 | 331_377 | -13 | 615 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000359606 | + | 1 | 11 | 435_484 | -13 | 615 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000375279 | + | 1 | 12 | 331_377 | -76 | 605 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000375279 | + | 1 | 12 | 435_484 | -76 | 605 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397798 | + | 1 | 7 | 331_377 | -208 | 264 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397798 | + | 1 | 7 | 435_484 | -208 | 264 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397800 | + | 1 | 11 | 331_377 | -112 | 576 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397800 | + | 1 | 11 | 435_484 | -112 | 576 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000492345 | + | 1 | 13 | 331_377 | -229 | 576 | Region | Nervy homology region 2 (NHR2) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000492345 | + | 1 | 13 | 435_484 | -229 | 576 | Region | Nervy homology region 3 (NHR3) |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000342704 | + | 1 | 11 | 517_553 | 11 | 596 | Zinc finger | MYND-type |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000344201 | + | 1 | 6 | 517_553 | -123 | 264 | Zinc finger | MYND-type |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000346541 | + | 1 | 12 | 517_553 | -179 | 605 | Zinc finger | MYND-type |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000359606 | + | 1 | 11 | 517_553 | -13 | 615 | Zinc finger | MYND-type |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000375279 | + | 1 | 12 | 517_553 | -76 | 605 | Zinc finger | MYND-type |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397798 | + | 1 | 7 | 517_553 | -208 | 264 | Zinc finger | MYND-type |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397800 | + | 1 | 11 | 517_553 | -112 | 576 | Zinc finger | MYND-type |
Hgene | >CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000492345 | + | 1 | 13 | 517_553 | -229 | 576 | Zinc finger | MYND-type |
Tgene | SNTA1 | chr20:32078107 | chr20:32026832 | ENST00000217381 | - | 0 | 8 | 6_269 | 103 | 506 | Domain | PH 1 |
Tgene | SNTA1 | chr20:32078107 | chr20:32026832 | ENST00000217381 | - | 0 | 8 | 87_170 | 103 | 506 | Domain | PDZ |
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FusionGeneSequence for CBFA2T2_SNTA1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CBFA2T2 | WDYHV1, MDFI, RUNX1T1, CBFA2T3, TAL1, RUNX1, GTF2E1, ID3, NEUROG1, TAL2, FBXL19, PRDM14, SIN3A, NCOR1, HDAC3, ATN1, ATXN1L, RERE, APP, LBP, TCP1, CBFA2T2, PDP1, NOTCH3, PRDM6, TCF4 | SNTA1 | KCNJ12, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000342704 | + | 1 | 11 | 107_215 | 11 | 596 | PRDM14 |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000344201 | + | 1 | 6 | 107_215 | -123 | 264 | PRDM14 |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000346541 | + | 1 | 12 | 107_215 | -179 | 605 | PRDM14 |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000359606 | + | 1 | 11 | 107_215 | -13 | 615 | PRDM14 |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000375279 | + | 1 | 12 | 107_215 | -76 | 605 | PRDM14 |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397798 | + | 1 | 7 | 107_215 | -208 | 264 | PRDM14 |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000397800 | + | 1 | 11 | 107_215 | -112 | 576 | PRDM14 |
Hgene | CBFA2T2 | chr20:32078107 | chr20:32026832 | ENST00000492345 | + | 1 | 13 | 107_215 | -229 | 576 | PRDM14 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CBFA2T2_SNTA1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CBFA2T2_SNTA1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SNTA1 | C2751830 | Long Qt Syndrome 12 | 2 | CTD_human;UNIPROT |
Tgene | SNTA1 | C0038220 | Status Epilepticus | 1 | CTD_human |