ORC6 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ORC6 (HGNC:17151) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- origin recognition complex subunit 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- ORC6L
- Alias symbols
- No aliases found
- %HI
- 41.77(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.39(Read more about gnomAD LOEUF score)
- Cytoband
- 16q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr16:46723571-46732306 NCBI Ensembl UCSC GRCh38/hg38: chr16:46689659-46698394 NCBI Ensembl UCSC - MANE Select Transcript
- NM_014321.4 ENST00000219097.7 (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. Does not bind histone H3 and H4 trimethylation marks H3K9me3, H3K27me3 and H4K20me3. {ECO:0000269|PubMed:22427655}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-14040
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- Meier-Gorlin syndrome 3 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)