ESCO2 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ESCO2 (HGNC:27230) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- establishment of sister chromatid cohesion N-acetyltransferase 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- RBS
- Alias symbols
- EFO2
- %HI
- 44.83(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.01(Read more about gnomAD LOEUF score)
- Cytoband
- 8p21.1
- Genomic Coordinates
-
GRCh37/hg19: chr8:27632071-27662833 NCBI Ensembl UCSC GRCh38/hg38: chr8:27771974-27819660 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001017420.3 ENST00000305188.13 (Read more about MANE Select)
- Function
- Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234). {ECO:0000269|PubMed:15821733, ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496, ECO:00... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12580
ClinGen Curation ID:
CCID:007087
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:
- Roberts-SC phocomelia syndrome Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)