RECQL5

RecQ like helicase 5, the group of RecQ like helicases

Basic information

Region (hg38): 17:75626845-75667189

Links

ENSG00000108469

∙ NCBI:9400 ∙ OMIM:603781 ∙ HGNC:9950 ∙ Uniprot:O94762 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

coronary artery disorder (Limited), mode of inheritance: AR
breast cancer (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RECQL5 gene.

not_specified (158 variants)
RECQL5-related_disorder (83 variants)
not_provided (16 variants)
Myoepithelial_tumor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RECQL5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004259.7. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	20 clinvar	2 clinvar	23
missense			148 clinvar	18 clinvar	7 clinvar	173
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				2 clinvar		2
Total	0	0	150	40	9

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RECQL5	protein_coding	protein_coding	ENST00000317905	19	40345

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.17e-18	0.381	125660	0	88	125748	0.000350

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00455	577	577	1.00	0.0000357	6399
Missense in Polyphen		154	169.66	0.9077		1873
Synonymous	0.215	227	231	0.982	0.0000143	1985
Loss of Function	1.68	34	46.3	0.734	0.00000235	549

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000745	0.000735
Ashkenazi Jewish	0.00	0.00
East Asian	0.000221	0.000217
Finnish	0.000477	0.000462
European (Non-Finnish)	0.000372	0.000316
Middle Eastern	0.000221	0.000217
South Asian	0.000622	0.000621
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Isoform beta is a DNA helicase that plays an important role in DNA replication, transcription and repair. Inhibits elongation of stalled transcripts at DNA damage sites by binding to the RNA polymerase II subunit POLR2A and blocking the TCEA1 binding site. Required for mitotic chromosome separation after cross-over events and cell cycle progress. Required for efficient DNA repair, including repair of inter-strand cross-links. Stimulates DNA decatenation mediated by TOP2A. Prevents sister chromatid exchange and homologous recombination. {ECO:0000269|PubMed:20231364, ECO:0000269|PubMed:20348101, ECO:0000269|PubMed:20643585, ECO:0000269|PubMed:22013166, ECO:0000269|PubMed:22973052, ECO:0000269|PubMed:23715498, ECO:0000269|PubMed:23748380}.;

Recessive Scores

pRec: 0.226

Intolerance Scores

loftool: 0.891
rvis_EVS: 0.15
rvis_percentile_EVS: 63.68

Haploinsufficiency Scores

pHI: 0.144
hipred: Y
hipred_score: 0.663
ghis: 0.509

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.575

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Recql5
Phenotype: cellular phenotype;

Gene ontology

Biological process: mitotic sister chromatid segregation;mitotic cell cycle;double-strand break repair via homologous recombination;DNA metabolic process;DNA replication;DNA repair;DNA recombination;response to X-ray;DNA duplex unwinding;negative regulation of transcription elongation from RNA polymerase II promoter;negative regulation of mitotic cell cycle;cell division;chromosome separation;cellular response to camptothecin;replication-born double-strand break repair via sister chromatid exchange;negative regulation of double-strand break repair via homologous recombination
Cellular component: nucleus;nucleoplasm;chromosome;cytoplasm;cytosol;RNA polymerase II, holoenzyme
Molecular function: RNA polymerase II complex binding;DNA binding;DNA helicase activity;ATP binding;four-way junction helicase activity;identical protein binding;ATP-dependent 3'-5' DNA helicase activity