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    TFPT TCF3 fusion partner [ Homo sapiens (human) ]

    Gene ID: 29844, updated on 17-Jun-2024

    Summary

    Official Symbol
    TFPTprovided by HGNC
    Official Full Name
    TCF3 fusion partnerprovided by HGNC
    Primary source
    HGNC:HGNC:13630
    See related
    Ensembl:ENSG00000105619 MIM:609519; AllianceGenome:HGNC:13630
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FB1; amida; INO80F
    Summary
    Predicted to enable DNA binding activity and protein kinase binding activity. Involved in apoptotic signaling pathway. Located in nucleoplasm. Part of Ino80 complex. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in brain (RPKM 11.2), prostate (RPKM 8.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TFPT in Genome Data Viewer
    Location:
    19q13.42
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (54107020..54115657, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (57185717..57194354, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (54610327..54619037, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene T cell-interacting, activating receptor on myeloid cells 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:54605952-54606928 Neighboring gene osteoclast associated Ig-like receptor Neighboring gene NADH:ubiquinone oxidoreductase subunit A3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:54617323-54618196 Neighboring gene PRPF31 antisense RNA 1 Neighboring gene pre-mRNA processing factor 31 Neighboring gene CCR4-NOT transcription complex subunit 3 Neighboring gene uncharacterized LOC102724273

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein-containing complex binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA recombination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in apoptotic signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in chromatin remodeling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in male gonad development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in positive regulation of telomere maintenance in response to DNA damage ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA repair ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of DNA replication IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of DNA strand elongation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of cell cycle IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of chromosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of embryonic development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in telomere maintenance ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    part_of Ino80 complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of Ino80 complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in actin filament IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    TCF3 fusion partner
    Names
    INO80 complex subunit F
    TCF3 (E2A) fusion partner (in childhood Leukemia)
    amida, partner of the E2A

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001321792.2NP_001308721.1  TCF3 fusion partner isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC245052, BC001728
      Consensus CDS
      CCDS82396.1
      UniProtKB/Swiss-Prot
      P0C1Z6
      Related
      ENSP00000375638.1, ENST00000391758.5
    2. NM_013342.4NP_037474.1  TCF3 fusion partner isoform 1

      See identical proteins and their annotated locations for NP_037474.1

      Status: VALIDATED

      Source sequence(s)
      AF052052, BI820344, BQ027375
      Consensus CDS
      CCDS12878.1
      UniProtKB/Swiss-Prot
      G5E9B5, P0C1Z6
      Related
      ENSP00000375639.1, ENST00000391759.6

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      54107020..54115657 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005278261.2XP_005278318.1  TCF3 fusion partner isoform X1

      See identical proteins and their annotated locations for XP_005278318.1

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003571054.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329680.1XP_054185655.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NW_003571055.2 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330165.1XP_054186140.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NW_003571056.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330473.1XP_054186448.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_4

    Genomic

    1. NW_003571057.2 Reference GRCh38.p14 ALT_REF_LOCI_4

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330726.1XP_054186701.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NW_003571058.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330955.1XP_054186930.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NW_003571059.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331235.1XP_054187210.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_7

    Genomic

    1. NW_003571060.1 Reference GRCh38.p14 ALT_REF_LOCI_7

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331510.1XP_054187485.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_8

    Genomic

    1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333545.1XP_054189520.1  TCF3 fusion partner isoform X1

    Reference GRCh38.p14 ALT_REF_LOCI_9

    Genomic

    1. NT_187693.1 Reference GRCh38.p14 ALT_REF_LOCI_9

      Range
      81440..90150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054333646.1XP_054189621.1  TCF3 fusion partner isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      57185717..57194354 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054320762.1XP_054176737.1  TCF3 fusion partner isoform X1