WDR27

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

Basic information

Region (hg38): 6:169457212-169702067

Links

ENSG00000184465 ∙ NCBI:253769 ∙ ∙ HGNC:21248 ∙ Uniprot:A2RRH5 ∙ 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 WDR27 gene.

• not_specified (156 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR27 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000182552.5. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			135	19		154
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	135	22	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR27	protein_coding	protein_coding	ENST00000448612	25	244853

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.80e-17	0.869	119512	72	5077	124661	0.0209

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.590	528	491	1.07	0.0000290	5713
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.102	0.102
Ashkenazi Jewish	0.0182	0.0183
East Asian	0.00243	0.00239
Finnish	0.0302	0.0303
European (Non-Finnish)	0.0201	0.0201
Middle Eastern	0.00243	0.00239
South Asian	0.00729	0.00718
Other	0.0184	0.0183

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.987
• rvis_EVS: 2.52
• rvis_percentile_EVS: 98.69

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.123
• ghis: 0.493

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.177

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr27

Gene ontology

• Cellular component: nucleoplasm
• Molecular function: protein binding