KHDC3L |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- KHDC3L (HGNC:33699) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- KH domain containing 3 like, subcortical maternal complex member
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C6orf221
- Alias symbols
- ECAT1
- %HI
- 94.36(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.12(Read more about gnomAD pLI score)
- LOEUF
- 0.96(Read more about gnomAD LOEUF score)
- Cytoband
- 6q13
- Genomic Coordinates
-
GRCh37/hg19: chr6:74072381-74073894 NCBI Ensembl UCSC GRCh38/hg38: chr6:73362658-73364171 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001017361.3 ENST00000370367.4 (Read more about MANE Select)
- Function
- As part of the OOEP-KHDC3 scaffold, recruits BLM and TRIM25 to DNA replication forks, thereby promoting the ubiquitination of BLM by TRIM25, enhancing BLM retainment at replication forks and therefore promoting stalled replication fork restart (By similarity). Regulates homologous recombination-mediated DNA repair via recruitment of RAD51 to sites of DNA double-strand breaks, and sustainment of PARP1 activity, which in turn modulates downstream ATM or ATR activation (PubMed:31609975). Activation... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-15944
ClinGen Curation ID:
CCID:007364
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:
- hydatidiform mole, recurrent, 2 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000006.11)
(NC_000006.12)