WDR93

WD repeat domain 93, the group of WD repeat domain containing|Cilia and flagella associated

Basic information

Region (hg38): 15:89690810-89743638

Links

ENSG00000140527 ∙ NCBI:56964 ∙ OMIM:619891 ∙ HGNC:26924 ∙ Uniprot:Q6P2C0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• autism spectrum disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WDR93 gene.

• Inborn genetic diseases (21 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR93 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			1	1		2
missense			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	20	3	0

Variants in WDR93

This is a list of pathogenic ClinVar variants found in the WDR93 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-89701765-A-T		not specified	Uncertain significance (Feb 14, 2024)
15-89701790-C-T		not specified	Uncertain significance (Jan 26, 2023)
15-89701793-T-C		not specified	Uncertain significance (Feb 10, 2022)
15-89701936-G-C		not specified	Uncertain significance (Jun 30, 2022)
15-89702026-T-C		Autistic spectrum disorder with isolated skills	Likely pathogenic (Dec 01, 2014)
15-89702032-C-G		not specified	Uncertain significance (Nov 09, 2021)
15-89705613-G-A		not specified	Uncertain significance (Mar 01, 2023)
15-89712063-A-G		not specified	Uncertain significance (Nov 09, 2021)
15-89715000-G-C		not specified	Uncertain significance (Mar 02, 2023)
15-89715033-A-G		not specified	Uncertain significance (Oct 06, 2022)
15-89715055-T-C		not specified	Uncertain significance (Nov 18, 2023)
15-89715075-A-G		not specified	Uncertain significance (Sep 01, 2021)
15-89715088-C-T		not specified	Likely benign (Apr 07, 2023)
15-89715093-C-A		not specified	Uncertain significance (Dec 27, 2023)
15-89722093-T-C			Uncertain significance (Jan 23, 2018)
15-89722121-C-G		not specified	Uncertain significance (Sep 21, 2021)
15-89727173-C-T			Likely benign (Mar 01, 2023)
15-89727220-C-A		not specified	Uncertain significance (Jan 31, 2024)
15-89727279-G-A		not specified	Uncertain significance (Nov 30, 2022)
15-89727331-G-A			Likely benign (Mar 01, 2023)
15-89729040-T-G		not specified	Uncertain significance (Dec 08, 2023)
15-89729073-C-T		not specified	Uncertain significance (Oct 20, 2023)
15-89729737-A-G		not specified	Uncertain significance (Sep 12, 2023)
15-89731536-T-G		not specified	Uncertain significance (Dec 31, 2023)
15-89733119-A-G		not specified	Uncertain significance (Nov 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR93	protein_coding	protein_coding	ENST00000268130	16	52842

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.07e-17	0.142	125496	1	251	125748	0.00100

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.212	360	372	0.969	0.0000185	4500
Missense in Polyphen		89	106.23	0.83782		1375
Synonymous	0.821	131	144	0.913	0.00000822	1284
Loss of Function	1.22	30	38.1	0.787	0.00000195	432

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00149	0.00149
Ashkenazi Jewish	0.00238	0.00238
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00123	0.00123
Middle Eastern	0.000109	0.000109
South Asian	0.00114	0.00111
Other	0.00196	0.00196

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.950
• rvis_EVS: 1.76
• rvis_percentile_EVS: 96.73

Haploinsufficiency Scores

• pHI: 0.0520
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0925

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr93

Gene ontology

• Biological process: electron transport chain
• Cellular component: mitochondrial respiratory chain complex I
• Molecular function: NADH dehydrogenase (ubiquinone) activity