PINK1 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PINK1 (HGNC:14581) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- PTEN induced kinase 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- PARK6
- Alias symbols
- BRPK
- %HI
- 41.91(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.32(Read more about gnomAD LOEUF score)
- Cytoband
- 1p36.12
- Genomic Coordinates
-
GRCh37/hg19: chr1:20959951-20978004 NCBI Ensembl UCSC GRCh38/hg38: chr1:20633458-20651511 NCBI Ensembl UCSC - MANE Select Transcript
- NM_032409.3 ENST00000321556.5 (Read more about MANE Select)
- Function
- Serine/threonine-protein kinase which protects against mitochondrial dysfunction during cellular stress by phosphorylating mitochondrial proteins such as PRKN and DNM1L, to coordinate mitochondrial quality control mechanisms that remove and replace dysfunctional mitochondrial components (PubMed:14607334, PubMed:18957282, PubMed:18443288, PubMed:15087508, PubMed:19229105, PubMed:19966284, PubMed:20404107, PubMed:22396657, PubMed:20798600, PubMed:23620051, PubMed:23754282, PubMed:23933751, PubMed:... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16908
ClinGen Curation ID:
CCID:007670
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:
- autosomal recessive early-onset Parkinson disease 6 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)