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)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
11/06/2015

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
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)