ORC4 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ORC4 (HGNC:8490) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- origin recognition complex subunit 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ORC4L
- Alias symbols
- HsORC4, Orc4p
- %HI
- 6.12(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.01(Read more about gnomAD pLI score)
- LOEUF
- 1.53(Read more about gnomAD LOEUF score)
- Cytoband
- 2q23.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:148687965-148779120 NCBI Ensembl UCSC GRCh38/hg38: chr2:147930396-148021551 NCBI Ensembl UCSC - MANE Select Transcript
- NM_181741.4 ENST00000392857.10 (Read more about MANE Select)
- Function
- Component of the origin recognition complex (ORC) that binds origins of replication. DNA-binding is ATP-dependent. The specific DNA sequences that define origins of replication have not been identified yet. ORC is required to assemble the pre-replication complex necessary to initiate DNA replication. Binds histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. {ECO:0000269|PubMed:22427655}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-34778
ClinGen Curation ID:
CCID:007596
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/06/2015
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Meier-Gorlin syndrome 2 Monarch
HI Evidence Comments:
Variants in ORC4 have been associated with Meier-Gorlin syndrome 2, an autosomal recessive disorder.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)