GeneBe

WDR18

WD repeat domain 18, the group of WD repeat domain containing|Large ribosomal subunit biogenesis complex

Basic information

Region (hg38): 19:984332-998438

Links

ENSG00000065268 ∙ NCBI:57418 ∙ OMIM:620291 ∙ HGNC:17956 ∙ Uniprot:Q9BV38 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WDR18 gene.

  • not_specified (80 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024100.4. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
clinvar
 2
missense
76
clinvar
3
clinvar
 79
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 76 4 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
WDR18protein_codingprotein_codingENST00000251289 1011396
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.9930.007291255110211255320.0000836
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4792322530.9150.00001612734
Missense in Polyphen6671.1350.92781749
Synonymous-1.521381171.180.00000846879
Loss of Function3.84119.10.05248.88e-7214

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002650.000265
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.0003840.000231
European (Non-Finnish)0.00005500.0000529
Middle Eastern0.000.00
South Asian0.00003270.0000327
Other0.0001680.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Functions as a component of the Five Friends of Methylated CHTOP (5FMC) complex; the 5FMC complex is recruited to ZNF148 by methylated CHTOP, leading to desumoylation of ZNF148 and subsequent transactivation of ZNF148 target genes (PubMed:22872859). Component of the PELP1 complex involved in the nucleolar steps of 28S rRNA maturation and the subsequent nucleoplasmic transit of the pre-60S ribosomal subunit (PubMed:21326211). {ECO:0000269|PubMed:21326211, ECO:0000269|PubMed:22872859}.;

Recessive Scores

pRec
0.108

Intolerance Scores

loftool
0.298
rvis_EVS
0
rvis_percentile_EVS
53.85

Haploinsufficiency Scores

pHI
0.109
hipred
Y
hipred_score
0.783
ghis
0.540

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.906

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Wdr18
Phenotype

Zebrafish Information Network

Gene name
wdr18
Affected structure
pancreas
Phenotype tag
abnormal
Phenotype quality
mislocalised

Gene ontology

Biological process
ribosomal large subunit assembly;pre-replicative complex assembly involved in nuclear cell cycle DNA replication;rRNA processing;multicellular organism development;regulation of DNA-dependent DNA replication initiation
Cellular component
nucleoplasm;nuclear pre-replicative complex;nucleolus;cytoplasm;Rix1 complex
Molecular function
protein binding