HPS3 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- HPS3 (HGNC:15597) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- HPS3 biogenesis of lysosomal organelles complex 2 subunit 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- SUTAL, BLOC2S1
- %HI
- 44.42(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.02(Read more about gnomAD LOEUF score)
- Cytoband
- 3q24
- Genomic Coordinates
-
GRCh37/hg19: chr3:148847425-148891519 NCBI Ensembl UCSC GRCh38/hg38: chr3:149129638-149173732 NCBI Ensembl UCSC - MANE Select Transcript
- NM_032383.5 ENST00000296051.7 (Read more about MANE Select)
- Function
- Involved in early stages of melanosome biogenesis and maturation. {ECO:0000250|UniProtKB:Q91VB4}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22408
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:
- Hermansky-Pudlak syndrome 3 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000003.11)
(NC_000003.12)