WDR7

WD repeat domain 7, the group of Armadillo like helical domain containing|WD repeat domain containing

Basic information

Region (hg38): 18:56651343-57029811

Links

ENSG00000091157 ∙ NCBI:23335 ∙ OMIM:613473 ∙ HGNC:13490 ∙ Uniprot:Q9Y4E6 ∙ 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 WDR7 gene.

• not_specified (155 variants)
• not_provided (9 variants)
• WDR7-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015285.3. 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				4	4	8
missense			153	3		156
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	154	7	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR7	protein_coding	protein_coding	ENST00000254442	27	380255

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	1.13e-7	125728	0	20	125748	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.48	639	842	0.759	0.0000462	9682
Missense in Polyphen		245	376.06	0.6515		4181
Synonymous	0.496	300	311	0.964	0.0000186	3005
Loss of Function	7.44	8	79.6	0.101	0.00000460	881

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000374	0.000364
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000618	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.119

Intolerance Scores

• loftool: 0.258
• rvis_EVS: -2.3
• rvis_percentile_EVS: 1.22

Haploinsufficiency Scores

• pHI: 0.291
• hipred: Y
• hipred_score: 0.749
• ghis: 0.631

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.820

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wdr7

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation
• Cellular component: synaptic vesicle