WDR37

WD repeat domain 37, the group of WD repeat domain containing

Basic information

Region (hg38): 10:1049538-1160991

Links

ENSG00000047056 ∙ NCBI:22884 ∙ OMIM:618586 ∙ HGNC:31406 ∙ Uniprot:Q9Y2I8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 24.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_014023.4	NP_054742.2	13	yes	-
ENST00000263150.9	ENSP00000263150.4	13	yes	-
ENST00000358220.5	ENSP00000350954.1	13	-	-
ENST00000381329.5	ENSP00000370730.1	8	-	-

Phenotypes

GenCC

Source: genCC

• neurooculocardiogenitourinary syndrome (Limited), mode of inheritance: AD
• neurooculocardiogenitourinary syndrome (Definitive), mode of inheritance: AD
• neurooculocardiogenitourinary syndrome (Strong), mode of inheritance: AD
• neurooculocardiogenitourinary syndrome (Definitive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neurooculocardiogenitourinary syndrome	AD	Cardiovascular	The condition can involve congenital cardiac anomalies, and awareness may allow early management	Audiologic/Otolaryngologic; Cardiovascular; Craniofacial; Gastrointestinal; Genitourinary; Musculoskeletal; Neurologic; Ophthalmologic	31327508; 31327510

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the WDR37 gene.

• Inborn_genetic_diseases (71 variants)
• not_provided (38 variants)
• Neurooculocardiogenitourinary_syndrome (24 variants)
• WDR37-related_disorder (20 variants)
• not_specified (6 variants)
• Intellectual_disability (5 variants)
• Epilepsy (4 variants)
• Congenital_ocular_coloboma (4 variants)
• Developmental_delay (4 variants)
• Dysmorphism (4 variants)
• Congenital_cerebellar_hypoplasia (4 variants)
• Ventriculomegaly (1 variants)
• Cerebellar_vermis_hypoplasia (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 WDR37 gene is commonly pathogenic or not. These statistics are base on transcript: NM_014023.4. 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			3	18		21
missense		9	83	20	1	113
nonsense			2			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4			4
Total	0	9	92	38	1

Highest pathogenic variant AF is 0.0000013680994

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR37	protein_coding	protein_coding	ENST00000358220	13	82760

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125738	0	10	125748	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.31	205	322	0.637	0.0000214	3219
Missense in Polyphen		82	145.76	0.56255		1357
Synonymous	-0.105	138	136	1.01	0.0000101	992
Loss of Function	3.93	6	28.7	0.209	0.00000149	303

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000905
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000707	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.213
• rvis_EVS: -0.91
• rvis_percentile_EVS: 9.96

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.901

Gene Damage Prediction

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

Gene ontology

• Cellular component: preribosome, large subunit precursor;PeBoW complex