TFPT (TCF3/E2A fusion partner)

Written2005-01Enrica Privitera, Andrea Biondi
Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy
Updated2006-10Enrica Privitera
Dipartimento di Scienze Biomolecolari e Biotecnologie, Via Celoria 26, 20133 Milano, Italy

(Note : for Links provided by Atlas : click)

1. Identity

General Information
Alias_symbol (synonym)FB1
Other alias
LocusID (NCBI) 29844
Atlas_Id 495
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 54107013 and ends at 54115675 bp from pter ( according to hg19-Feb_2009)  [Mapping TFPT.png]
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
TCF3 (19p13.3) / TFPT (19q13.42)TCF7L1 (2p11.2) / TFPT (19q13.42)TFPT (19q13.42) / MAP3K13 (3q27.2)
TFPT (19q13.42) / TCF3 (19p13.3)TFPT (19q13.42) / TCF7L1 (2p11.2)


Description Genomic structure of six exons and five introns spanning about 10kb
Transcription Two transcripts of 1.1kb and 1.2kb, expressed mainly in brain and in hemopoietic cell lines. The rat ortholog, Amida, was found highly expressed also in rat testis. TATA less promoter, that can be transactivated in vitro by PU.1 and Ikaros 2. Orientation, minus strand.

3. Protein

Description Conserved protein of 253 amino acids (in man) with two nuclear localization signals (NLS) (n.68-75 and n.190-194) and a DNA binding domain located between the two NLSs.
Expression constitutive
Localisation nuclear
Function Over expression of TFPT/Amida in cultured cells induces arrest in G2-M. Biochemical studies indicate that TFPT/Amida interacts with Cdc2/CDK1 in mitosis and its over expression results in a decrease of Cdc2/CDK1 activity. It is also suggested that the TFPT/Amida DNA binding activity is necessary for cell cycle inhibition and that Amida phophorylation by Cdc2/CDK1, detected in vitro, might decrease this DNA binding activity. Up-regulation of TFPT promotes caspase 9-dependent, p53-independent apoptosis. The pro-apoptotic role of TFPT appears modulated by interaction with specific factors, like Arc and Par-4, which might provide an explanation for the different susceptibility of different cell types to TFPT induced apoptosis.
Homology Very high homology with mouse and rat orthologs.

4. Mutations

Somatic Involved in chromosome rearrangement in leukaemia.

5. Implicated in

Entity Childhood pre-B ALL
Note We detected 8 cases out of 200 : incidence about 4% of childhood pre-B ALL
Cytogenetics Following the position of the two involved genes, E2A on 19p13 and FB1 on 19q13 an inv(19)(p13q13) appears more likely but a translocation t(19;19)(p13;q13) cannot be yet ruled out. Still pending.
Hybrid/Mutated Gene E2A-FB1
Abnormal Protein Since the chimeric transcripts so far analyzed contain the FB1 sequence fused out of frame to E2A and no truncated E2A protein was detected by Western blot, we suggest that no fusion protein is produced.

6. Breakpoints

Note We detected different joining points in the transcripts of the different analyzed cases indicating different breakpoints in a genomic region spanning exons 15-17 on TCF3 and exons 5-6 on TFPT.

7. Bibliography

Promoter analysis of TFPT (FB1), a molecular partner of TCF3 (E2A) in childhood acute lymphoblastic leukemia.
Brambillasca F, Mosna G, Ballabio E, Biondi A, Boulukos KE, Privitera E
Biochemical and biophysical research communications. 2001 ; 288 (5) : 1250-1257.
PMID 11700047
Apoptosis promoted by up-regulation of TFPT (TCF3 fusion partner) appears p53 independent, cell type restricted and cell density influenced.
Franchini C, Fontana F, Minuzzo M, Babbio F, Privitera E
Apoptosis : an international journal on programmed cell death. 2006 ; 11 (12) : 2217-2224.
PMID 17041757
Arrest of cell cycle by amida which is phosphorylated by Cdc2 kinase.
Gan Y, Taira E, Irie Y, Fujimoto T, Miki N
Molecular and cellular biochemistry. 2003 ; 246 (1-2) : 179-185.
PMID 12841360
Molecular cloning and characterization of Amida, a novel protein which interacts with a neuron-specific immediate early gene product arc, contains novel nuclear localization signals, and causes cell death in cultured cells.
Irie Y, Yamagata K, Gan Y, Miyamoto K, Do E, Kuo CH, Taira E, Miki N
The Journal of biological chemistry. 2000 ; 275 (4) : 2647-2653.
PMID 10644725
Heterozygous targeted disruption of E2A gene by an Inv(19)(p13;q13).
Roettgers S, Brambillasca F, Giudici G, Harbott J, Privitera E, Biondi A
The American Society of Hematology. 1944.

8. Citation

This paper should be referenced as such :
Privitera, E
TFPT (TCF3/E2A fusion partner)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(1):23-24.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Privitera, E ; Biondi, A. TFPT (TCF3/E2A fusion partner). Atlas Genet Cytogenet Oncol Haematol. 2005;9(1):19-20.

9. Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]

10. External links

HGNC (Hugo)TFPT   13630
Entrez_Gene (NCBI)TFPT  29844  TCF3 fusion partner
AliasesFB1; INO80F; amida
GeneCards (Weizmann)TFPT
Ensembl hg19 (Hinxton)ENSG00000105619 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000105619 [Gene_View] &nbspENSG00000105619 [Sequence]  chr19:54107013-54115675 [Contig_View]  TFPT [Vega]
ICGC DataPortalENSG00000105619
Genatlas (Paris)TFPT
SOURCE (Princeton)TFPT
Genetics Home Reference (NIH)TFPT
Genomic and cartography
GoldenPath hg38 (UCSC)TFPT  -     chr19:54107013-54115675 -  19q13.42   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TFPT  -     19q13.42   [Description]    (hg19-Feb_2009)
EnsemblTFPT - 19q13.42 [CytoView hg19]  TFPT - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBITFPT [Mapview hg19]  TFPT [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF052052 AK310627 AK310647 BC001728 BC004281
RefSeq transcript (Entrez)NM_001321792 NM_013342
RefSeq genomic (Entrez)NC_000019 NT_187693 NW_003571054 NW_003571055 NW_003571056 NW_003571057 NW_003571058 NW_003571059 NW_003571060 NW_003571061
Consensus coding sequences : CCDS (NCBI)TFPT
Cluster EST : UnigeneHs.745267 [ NCBI ]
CGAP (NCI)Hs.745267
Alternative Splicing GalleryENSG00000105619
Gene ExpressionTFPT [ NCBI-GEO ]   TFPT [ EBI - ARRAY_EXPRESS ]   TFPT [ SEEK ]   TFPT [ MEM ]
Gene Expression Viewer (FireBrowse)TFPT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)29844
GTEX Portal (Tissue expression)TFPT
Human Protein AtlasENSG00000105619-TFPT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP0C1Z6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP0C1Z6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP0C1Z6
Splice isoforms : SwissVarP0C1Z6
Domains : Interpro (EBI)TFPT   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)TFPT
DMDM Disease mutations29844
Blocks (Seattle)TFPT
Human Protein Atlas [tissue]ENSG00000105619-TFPT [tissue]
Peptide AtlasP0C1Z6
IPIIPI00063387   IPI00852611   IPI00853606   IPI00927736   
Protein Interaction databases
IntAct (EBI)P0C1Z6
Ontologies - Pathways
Ontology : AmiGODNA binding  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA repair  DNA recombination  apoptotic process  protein deubiquitination  Ino80 complex  Ino80 complex  nuclear membrane  apoptotic signaling pathway  
Ontology : EGO-EBIDNA binding  DNA binding  protein binding  nucleus  nucleoplasm  nucleoplasm  cytoplasm  DNA repair  DNA recombination  apoptotic process  protein deubiquitination  Ino80 complex  Ino80 complex  nuclear membrane  apoptotic signaling pathway  
REACTOMEP0C1Z6 [protein]
REACTOME PathwaysR-HSA-5696394 [pathway]   
NDEx NetworkTFPT
Atlas of Cancer Signalling NetworkTFPT
Wikipedia pathwaysTFPT
Orthology - Evolution
GeneTree (enSembl)ENSG00000105619
Phylogenetic Trees/Animal Genes : TreeFamTFPT
Homologs : HomoloGeneTFPT
Homology/Alignments : Family Browser (UCSC)TFPT
Gene fusions - Rearrangements
Fusion : MitelmanTCF3/TFPT [19p13.3/19q13.42] &nbsp[t(19;19)(p13;q13)]  
Fusion : TICdbTCF3 [19p13.3]  -  TFPT [19q13.42]
Fusion : QuiverTFPT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTFPT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TFPT
Exome Variant ServerTFPT
ExAC (Exome Aggregation Consortium)ENSG00000105619
GNOMAD BrowserENSG00000105619
Varsome BrowserTFPT
Genetic variants : HAPMAP29844
Genomic Variants (DGV)TFPT [DGVbeta]
DECIPHERTFPT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTFPT 
ICGC Data PortalTFPT 
TCGA Data PortalTFPT 
Broad Tumor PortalTFPT
OASIS PortalTFPT [ Somatic mutations - Copy number]
Cancer Gene: CensusTFPT 
Somatic Mutations in Cancer : COSMICTFPT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTFPT
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TFPT
DgiDB (Drug Gene Interaction Database)TFPT
DoCM (Curated mutations)TFPT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TFPT (select a term)
NCG5 (London)TFPT
Cancer3DTFPT(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Genetic Testing Registry TFPT
NextProtP0C1Z6 [Medical]
Target ValidationTFPT
Huge Navigator TFPT [HugePedia]
snp3D : Map Gene to Disease29844
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD29844
Chemical/Pharm GKB GenePA37802
Clinical trialTFPT
canSAR (ICR)TFPT (select the gene name)
DataMed IndexTFPT
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 17 19:10:03 CET 2019

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