WDR27

protein-coding

WD repeat domain 27, the group of WD repeat domain containing

Gene summary

This gene encodes a protein with multiple WD repeats. Proteins with these repeats may form scaffolds for protein-protein interaction and play key roles in cell signalling. Alternative splicing results in multiple transcript variants, but the full-length structure of some of these variants cannot be determined. [provided by RefSeq, Nov 2015]

MANE transcript

NM_182552.5

Inheritance

—

ClinVar variants

U:162B:25

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr6:169,457,212-169,702,067

External References & Databases

Ensembl (ENSG00000184465)

Transcript & Mutation Effects

hg38 • Region Span ~244.9 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to WDR27 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 173

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_182552.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	3 clinvar		5
missense			153 clinvar	22 clinvar		175
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	162	25	0	187

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 48 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_182552.5	RefSeq	NP_872358.4	25	MANE Select
ENST00000448612.6	Ensembl	ENSP00000416289.1	25	MANE Select
NM_001202550.2	RefSeq	NP_001189479.1	21	Standard
NM_001350623.2	RefSeq	NP_001337552.1	19	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000448612
Coding exons: 25
Length: 244853
Individuals with no LoFs: 119512
Homozygous LoFs: 72
Heterozygous LoFs: 5077
Defined: 124661
p: 0.0209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.590	528	491	1.07	0.0000290	5713
Missense (PolyPhen)		131	127.68	1.026		1564
Synonymous	-0.0438	196	195	1.00	0.0000126	1771
Loss of Function	2.18	34	50.8	0.670	0.00000293	595

Population LoF Frequency

Population	CAF	p-value	Status
African	0.092	0.092	notable
Latino/Admixed American	0.010	0.010	notable
Ashkenazi Jewish	0.018	0.018	notable
East Asian	0.0024	0.0024	notable
Finnish	0.030	0.030	notable
European (Non-Finnish)	0.020	0.020	notable
South Asian	0.0073	0.0072	notable
Other	0.018	0.018	notable

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.987
RVIS EVS: 2.52
RVIS percentile EVS: 98.69

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.177

Gene Damage Prediction

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