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MKRN3 |
Gene Facts External Data Attribution
- HGNC Symbol
- MKRN3 (HGNC:7114) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- makorin ring finger protein 3
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ZNF127, D15S9
- Alias symbols
- RNF63, ZFP127, MGC88288
- %HI
- 87.91(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.28(Read more about gnomAD pLI score)
- LOEUF
- 1.67(Read more about gnomAD LOEUF score)
- Cytoband
- 15q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr15:23810821-23813191 NCBI Ensembl UCSC GRCh38/hg38: chr15:23565674-23568044 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005664.4 ENST00000314520.6 (Read more about MANE Select)
- Function
- E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. {ECO:0000250, ECO:0000269|PubMed:19066619}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12789
ClinGen Curation ID:
CCID:007466
Curation Status:
Under Group Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Group Review
Triplosensitivity:
Under Group Review
Last Evaluated:
Under Group Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000015.9)
(NC_000015.10)
