WDR91

WD repeat domain 91, the group of WD repeat domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 7:135183839-135211555

Links

ENSG00000105875 ∙ NCBI:29062 ∙ OMIM:616303 ∙ HGNC:24997 ∙ Uniprot:A4D1P6 ∙ 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 WDR91 gene.

• not_specified (91 variants)
• not_provided (8 variants)
• Neurodevelopmental_disorder_with_brain_malformations_and_multiple_congenital_anomalies (1 variants)
• See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR91 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014149.4. 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	2	3
missense			86	7		93
nonsense	1	1				2
start loss						0
frameshift			2			2
splice donor/acceptor (+/-2bp)	1	1				2
Total	2	2	88	8	2

Highest pathogenic variant AF is 0.00008686361

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR91	protein_coding	protein_coding	ENST00000354475	15	27727

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000437	1.00	125700	0	48	125748	0.000191

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	358	443	0.809	0.0000258	4873
Missense in Polyphen		73	128.89	0.56639		1394
Synonymous	0.103	190	192	0.991	0.0000124	1476
Loss of Function	3.42	16	39.1	0.409	0.00000206	429

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000415	0.000412
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000250	0.000246
Middle Eastern	0.000218	0.000217
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Functions as a negative regulator of the PI3 kinase/PI3K activity associated with endosomal membranes via BECN1, a core subunit of the PI3K complex. By modifying the phosphatidylinositol 3-phosphate/PtdInsP3 content of endosomal membranes may regulate endosome fusion, recycling, sorting and early to late endosome transport (PubMed:26783301). It is for instance, required for the delivery of cargos like BST2/tetherin from early to late endosome and thereby participates indirectly to their degradation by the lysosome (PubMed:27126989). May play a role in meiosis (By similarity). {ECO:0000250|UniProtKB:Q7TMQ7, ECO:0000269|PubMed:26783301, ECO:0000269|PubMed:27126989}.

Recessive Scores

• pRec: 0.0934

Intolerance Scores

• loftool: 0.414
• rvis_EVS: -1.28
• rvis_percentile_EVS: 5.13

Haploinsufficiency Scores

• pHI: 0.256
• hipred: Y
• hipred_score: 0.540
• ghis: 0.578

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.435

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr91

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;regulation of phosphatidylinositol 3-kinase activity;early endosome to late endosome transport;regulation of cellular protein catabolic process
• Cellular component: cytosol;extrinsic component of endosome membrane;early endosome membrane;late endosome membrane
• Molecular function: protein binding;phosphatidylinositol 3-kinase regulator activity