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)
Triplosensitivity:
Not Yet Evaluated
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)