WDR31

WD repeat domain 31, the group of WD repeat domain containing

Basic information

Region (hg38): 9:113313222-113340298

Links

ENSG00000148225 ∙ NCBI:114987 ∙ ∙ HGNC:21421 ∙ Uniprot:Q8NA23 ∙ 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 WDR31 gene.

• not_specified (41 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR31 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001012361.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			37	3		40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	37	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR31	protein_coding	protein_coding	ENST00000374193	9	27077

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.55e-9	0.377	125542	0	205	125747	0.000815

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.661	175	201	0.869	0.0000102	2399
Missense in Polyphen		53	60.406	0.87739		695
Synonymous	1.03	64	75.3	0.850	0.00000408	691
Loss of Function	0.916	16	20.5	0.782	9.35e-7	242

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000782	0.000782
Ashkenazi Jewish	0.00	0.00
East Asian	0.000436	0.000435
Finnish	0.000277	0.000277
European (Non-Finnish)	0.00120	0.00120
Middle Eastern	0.000436	0.000435
South Asian	0.00111	0.00111
Other	0.000489	0.000489

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0749

Intolerance Scores

• loftool: 0.967
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.76

Haploinsufficiency Scores

• pHI: 0.0648
• hipred: N
• hipred_score: 0.393
• ghis: 0.454

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.258

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr31