RBBP8 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- RBBP8 (HGNC:9891) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RB binding protein 8, endonuclease
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- SCKL2
- Alias symbols
- CtIP, RIM, COM1
- %HI
- 13.93(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.98(Read more about gnomAD LOEUF score)
- Cytoband
- 18q11.2
- Genomic Coordinates
-
GRCh37/hg19: chr18:20513291-20606449 NCBI Ensembl UCSC GRCh38/hg38: chr18:22914139-23026486 NCBI Ensembl UCSC - MANE Select Transcript
- NM_002894.3 ENST00000327155.10 (Read more about MANE Select)
- Function
- Endonuclease that cooperates with the MRE11-RAD50-NBN (MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination (HR) pathway (PubMed:17965729, PubMed:19202191, PubMed:19759395, PubMed:20064462, PubMed:26721387). HR is restricted to S and G2 phases of the cell cycle and preferentially repairs DSBs resulting from replication fork collapse (PubMed:17965729, PubMed:19202191). Key determinant of DSB repair pathway choice, as it commits... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15217
ClinGen Curation ID:
CCID:007757
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:
- Seckel syndrome 2 Monarch
HI Evidence Comments:
Biallelic variants have been reported in individuals with Jawad syndrome and Seckel syndrome 2 per OMIM.
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000018.9)
(NC_000018.10)