BCLAF1 |
- 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)