CHD1L |
- 0
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CHD1L (HGNC:1916) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- chromodomain helicase DNA binding protein 1 like
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- ALC1
- %HI
- 45.36(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.3(Read more about gnomAD LOEUF score)
- Cytoband
- 1q21.1
- Genomic Coordinates
-
GRCh37/hg19: chr1:146644326-146767443 NCBI Ensembl UCSC GRCh38/hg38: chr1:147172747-147295762 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004284.6 ENST00000369258.8 (Read more about MANE Select)
- Function
- ATP-dependent chromatin remodeler that mediates chromatin- remodeling following DNA damage (PubMed:19661379, PubMed:29220652, PubMed:29220653, PubMed:33357431, PubMed:34486521, PubMed:34874266, PubMed:34210977). Recruited to DNA damage sites through interaction with poly-ADP-ribose: specifically recognizes and binds histones that are poly-ADP-ribosylated on serine residues in response to DNA damage (PubMed:19661379, PubMed:29220652, PubMed:29220653, PubMed:34874266, PubMed:34486521). Poly-ADP-ri... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-6871
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Related Links:
Last Evaluated:
08/30/2018
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)