• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BCLAF1 (HGNC:16863) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
BCL2 associated transcription factor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
KIAA0164, BTF
%HI
4.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.93(Read more about gnomAD LOEUF score)
Cytoband
6q23.3
Genomic Coordinates
GRCh37/hg19: chr6:136577765-136610984 NCBI Ensembl UCSC
GRCh38/hg38: chr6:136256627-136289846 NCBI Ensembl UCSC
MANE Select Transcript
NM_014739.3 ENST00000531224.6 (Read more about MANE Select)
Function
Death-promoting transcriptional repressor. May be involved in cyclin-D1/CCND1 mRNA stability through the SNARP complex which associates with both the 3'end of the CCND1 gene and its mRNA. {ECO:0000269|PubMed:18794151}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36229
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/28/2018

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 28263302
    Yuen et al. 2017 reported 2,620 individuals diagnosed with Autism Spectrum Disorders. One patient (AU3865301) was found with a single de novo nonsense mutation in the BLCAF1 gene. However, the clinical details of this patient was not available.
  • PUBMED: 25262651
    The collaboration of two consortia (EuroEPINOMICS and Epi4K/EPGP) reported exome-sequencing data of 356 trios with "clasical" epileptic encephalopathies, infantile spasms and Lennox Gastaut sydrome. One patient (isnd29975cb1) with infantile spasms was found with a single de novo nonsense mutation in the BCLAF1 gene. However, the clinical details of this patient was not available.
HI Evidence Comments:
There were numerous entries from more than three independent studies in the Database of Genomic Variants (DGVs) showing exonic deletion within the BCLAF1 gene. Therefore, intragenic heterozygous deletion of BCLAF1 gene is unlikely to be associated with neurodevelopmental disorders. Notably, the ClinVar Variants database had five benign missense mutations (Variation ID: 402423, 402422, 402421, 402420 and 402419) and one uncertain splice donor mutation (Variation ID: 402424) (Last reviewed 29/03/2016). There were no functional studies to demonstrate BCLAF1 was implicated in neurodevelopmental disorders such as autism or epilepsy. However, McPherson et al. (2009) (PMID: 19008920) showed that heterozygous bclaf1 mice had an intermediate reduction in T lymphocytes proliferation and activation responses, suggesting BCLAF1 had a critical role in lung development and proper functioning of the immune system. Also, Lowe et al. (2018) (PMID: 29466738) demonstrated in knockdown Bclaf1 mice that BCLAF1 cooperatively interacted with Cry2 (i.e. in CCND1 and TMEM176B gene regulation) to promote myoblast proliferation and subsequently myocyte fusion to form myotubes.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)