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RECQL4 |
Gene Facts External Data Attribution
- HGNC Symbol
- RECQL4 (HGNC:9949) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- RecQ like helicase 4
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- RecQ4
- %HI
- 85.27(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.52(Read more about gnomAD LOEUF score)
- Cytoband
- 8q24.3
- Genomic Coordinates
-
GRCh37/hg19: chr8:145736671-145743217 NCBI Ensembl UCSC GRCh38/hg38: chr8:144511288-144517833 NCBI Ensembl UCSC - MANE Select Transcript
- NM_004260.4 ENST00000617875.6 (Read more about MANE Select)
- Function
- An ATP-dependent DNA helicase which unwinds dsDNA with a 3'- overhang in a 3'-5' direction (PubMed:28653661). Does not unwind more than 18 bp of dsDNA (PubMed:28653661). May modulate chromosome segregation. The N-terminal domain (residues 1-54) binds DNA Y-shaped DNA better than ss- or dsDNA (PubMed:22730300). The core helicase domain binds ssDNA (PubMed:28653661, PubMed:22730300). {ECO:0000269|PubMed:15317757, ECO:0000269|PubMed:22730300, ECO:0000269|PubMed:28653661}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-640
Curation Status:
Under Primary Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Under Primary Review
Triplosensitivity:
Under Primary Review
Last Evaluated:
Under Primary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)
