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)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
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)