PHC1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- PHC1 (HGNC:3182) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- polyhomeotic homolog 1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- EDR1
- Alias symbols
- HPH1, RAE28
- %HI
- 41.66(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.24(Read more about gnomAD LOEUF score)
- Cytoband
- 12p13.31
- Genomic Coordinates
-
GRCh37/hg19: chr12:9067105-9094063 NCBI Ensembl UCSC GRCh38/hg38: chr12:8913843-8941467 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004426.3 ENST00000544916.6 (Read more about MANE Select)
- Function
- Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A 'Lys-119', rendering chromatin heritably changed in its expressibility. Required for proper control of cellular levels of GMNN expression. {ECO:0000269|PubMed:23418308}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-13375
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- microcephaly 11, primary, autosomal recessive Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000012.11)
(NC_000012.12)