ORS8

Chr 7

origin-enriched sequence 8

NCBI Gene: 107063542

This region represents an origin of DNA replication that was first identified in African green monkey cells. Unlike the monkey origin, which replicates early, this human sequence replicates late in S phase. This sequence recognizes and binds Ku80 protein (X-ray repair complementing defective repair in Chinese hamster cells 5) during G1 phase, which recruits topoisomerase (DNA) II beta and results in transient double-strand breaks in this region. These breaks are important for recruitment of additional proteins involved in origin activity, including origin recognition complex subunit 2, chromatin licensing and DNA replication factor 1, and cell division cycle 45. [provided by RefSeq, Jan 2016]

6
ClinVar variants
6
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— ORS8
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic of 6 total submissions
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/ORS8?content-type=application/json&expand=1

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

6 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic6
6
Pathogenic

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————6
Likely Pathogenic
————0
VUS
————0
Likely Benign
————0
Benign
————0
Total—6

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ORS8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
OBA/Ku86: DNA binding specificity and involvement in mammalian DNA replication.
Ruiz MT et al.·Mol Biol Cell
1999
Phosphorylation of Ku70 subunit by cell cycle kinases modulates the replication related function of Ku heterodimer.
Mukherjee S et al.·Nucleic Acids Res
2016
Differential DNA binding of Ku antigen determines its involvement in DNA replication.
Schild-Poulter C et al.·DNA Cell Biol
2003
Identification and functional analysis of a human homologue of the monkey replication origin ors8.
Callejo M et al.·J Cell Biochem
2006Functional
Dynamic changes in chromatin structure through post-translational modifications of histone H3 during replication origin activation.
Rampakakis E et al.·J Cell Biochem
2009
Deletion analysis of ors12, a centromeric, early activated, mammalian origin of DNA replication.
Pelletier R et al.·J Cell Biochem
1997
Deletion analysis of minimal sequence requirements for autonomous replication of ors8, a monkey early-replicating DNA sequence.
Todd A et al.·J Cell Biochem
1995
The human cruciform-binding protein, CBP, is involved in DNA replication and associates in vivo with mammalian replication origins.
Novac O et al.·J Biol Chem
2002
14-3-3sigma is a cruciform DNA binding protein and associates in vivo with origins of DNA replication.
Alvarez D et al.·J Cell Biochem
2002
Autonomous replication of plasmids bearing monkey DNA origin-enriched sequences.
Frappier L et al.·Proc Natl Acad Sci U S A
1987
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools