LRBA
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LRBA (HGNC:1742) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
LPS responsive beige-like anchor protein
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CDC4L
Alias symbols
BGL, LAB300, LBA, uc.147
%HI
1.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
0.52(Read more about gnomAD LOEUF score)
Cytoband
4q31.3
Genomic Coordinates
GRCh37/hg19: chr4:151185587-151936879 NCBI Ensembl UCSC
GRCh38/hg38: chr4:150264435-151015727 NCBI Ensembl UCSC
MANE Select Transcript
NM_001364905.1 ENST00000651943.2 (Read more about MANE Select)
Function
Involved in coupling signal transduction and vesicle trafficking to enable polarized secretion and/or membrane deposition of immune effector molecules (By similarity). Involved in phagophore growth during mitophagy by regulating ATG9A trafficking to mitochondria (PubMed:33773106). {ECO:0000250|UniProtKB:Q9ESE1, ECO:0000269|PubMed:33773106}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30844
ClinGen Curation ID:
CCID:007417
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • combined immunodeficiency due to LRBA deficiency Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000004.11) (NC_000004.12)