LRPAP1
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
LRPAP1 (HGNC:6701) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
LDL receptor related protein associated protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
A2MRAP, RAP
Alias symbols
HBP44, Alpha-2-MRAP
%HI
81.97(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.38(Read more about gnomAD LOEUF score)
Cytoband
4p16.3
Genomic Coordinates
GRCh37/hg19: chr4:3505339-3534149 NCBI Ensembl UCSC
GRCh38/hg38: chr4:3503612-3532422 NCBI Ensembl UCSC
MANE Select Transcript
NM_002337.4 ENST00000650182.1 (Read more about MANE Select)
Function
Molecular chaperone for LDL receptor-related proteins that may regulate their ligand binding activity along the secretory pathway. {ECO:0000269|PubMed:32296178, ECO:0000269|PubMed:7774585}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-19919
ClinGen Curation ID:
CCID:007420
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:
  • myopia 23, autosomal recessive Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

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