WDR86

WD repeat domain 86, the group of WD repeat domain containing

Basic information

Region (hg38): 7:151375909-151410727

Links

ENSG00000187260 ∙ NCBI:349136 ∙ ∙ HGNC:28020 ∙ Uniprot:Q86TI4 ∙ 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 WDR86 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR86 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			38			38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	0	0

Variants in WDR86

This is a list of pathogenic ClinVar variants found in the WDR86 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-151376637-G-A		not specified	Uncertain significance (Oct 03, 2022)
7-151376697-G-T		not specified	Uncertain significance (Feb 03, 2022)
7-151376710-C-T		not specified	Uncertain significance (Aug 16, 2022)
7-151376796-C-T		not specified	Uncertain significance (Aug 17, 2021)
7-151381658-G-A		not specified	Uncertain significance (May 26, 2024)
7-151381658-G-C		not specified	Uncertain significance (May 27, 2022)
7-151381679-A-C		not specified	Uncertain significance (Dec 13, 2022)
7-151381701-G-A		not specified	Uncertain significance (Dec 27, 2023)
7-151381740-C-T		not specified	Uncertain significance (Jan 27, 2022)
7-151381931-C-T		not specified	Uncertain significance (Jan 30, 2024)
7-151385102-T-C		not specified	Uncertain significance (Apr 20, 2023)
7-151385124-G-A		not specified	Uncertain significance (Mar 07, 2024)
7-151385145-G-A		not specified	Uncertain significance (May 24, 2023)
7-151385181-C-T		not specified	Uncertain significance (Feb 21, 2024)
7-151385186-C-G		not specified	Uncertain significance (Nov 30, 2022)
7-151385213-C-T		not specified	Uncertain significance (Feb 22, 2024)
7-151395790-C-G		not specified	Uncertain significance (Apr 07, 2022)
7-151395796-C-T		not specified	Uncertain significance (Jul 12, 2022)
7-151395799-G-A		not specified	Uncertain significance (Nov 07, 2023)
7-151395805-C-T		not specified	Uncertain significance (Aug 02, 2021)
7-151395831-C-G		not specified	Uncertain significance (Nov 17, 2023)
7-151395850-G-A		not specified	Uncertain significance (Sep 22, 2023)
7-151395864-G-A		not specified	Uncertain significance (Oct 05, 2022)
7-151395889-C-A		not specified	Uncertain significance (Aug 02, 2022)
7-151395894-G-A		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR86	protein_coding	protein_coding	ENST00000334493	6	34819

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.16e-9	0.0997	125469	0	75	125544	0.000299

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.534	200	222	0.899	0.0000145	2346
Missense in Polyphen		91	102.58	0.88709		1164
Synonymous	0.376	98	103	0.953	0.00000733	792
Loss of Function	0.108	14	14.4	0.969	7.82e-7	144

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000705	0.000683
Ashkenazi Jewish	0.0000995	0.0000993
East Asian	0.000422	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000330	0.000317
Middle Eastern	0.000422	0.000381
South Asian	0.000314	0.000261
Other	0.000351	0.000327

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0997

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.328
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.284

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr86