WDR83OS

WD repeat domain 83 opposite strand

Basic information

Region (hg38): 19:12668073-12669415

Previous symbols: [ "C19orf56" ]

Links

ENSG00000105583 ∙ NCBI:51398 ∙ OMIM:618474 ∙ HGNC:30203 ∙ Uniprot:Q9Y284 ∙ 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 WDR83OS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WDR83OS 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				2	2	4
missense			4		1	5
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding			1	2		3
Total	0	0	7	4	3

Variants in WDR83OS

This is a list of pathogenic ClinVar variants found in the WDR83OS region.

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

Position	Type	Phenotype	Significance	ClinVar
19-12668365-T-TG			Uncertain significance (Apr 29, 2023)
19-12668371-C-T			Likely benign (Nov 24, 2023)
19-12668409-C-T			Uncertain significance (Jun 25, 2023)
19-12668419-GGACAGCCTGA-G		Hypercholanemia, familial	Pathogenic (Aug 13, 2024)
19-12668435-G-C			Uncertain significance (Nov 27, 2023)
19-12668539-G-A		Hypercholanemia, familial	Pathogenic (Aug 13, 2024)
19-12668580-A-G		not specified	Uncertain significance (Jun 17, 2024)
19-12668636-G-A			Likely benign (Sep 27, 2022)
19-12669126-A-T		Hypercholanemia, familial	Pathogenic (Aug 13, 2024)
19-12669127-C-A		Neurodevelopmental disorder with seizures and speech and walking impairment • Hypercholanemia, familial	Conflicting classifications of pathogenicity (Aug 13, 2024)
19-12669169-G-A			Likely benign (Jan 03, 2024)
19-12669199-A-G			Benign (Nov 10, 2023)
19-12669345-G-C			Likely benign (Jul 14, 2023)
19-12669353-C-A		Hypercholanemia, familial	Pathogenic (Aug 13, 2024)
19-12669365-G-A			Benign (Jan 25, 2024)
19-12669382-C-G		not specified	Uncertain significance (Oct 06, 2021)
19-12669390-T-C			Benign (Jan 22, 2024)
19-12669396-G-C			Uncertain significance (May 27, 2022)
19-12669399-G-C		not specified	Uncertain significance (Apr 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WDR83OS	protein_coding	protein_coding	ENST00000596731	4	3286

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00331	0.626	125722	0	12	125734	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.700	50	66.0	0.757	0.00000346	702
Missense in Polyphen		20	28.747	0.69573		314
Synonymous	0.214	25	26.4	0.947	0.00000156	178
Loss of Function	0.479	4	5.18	0.773	2.19e-7	60

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.000544	0.000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.000544	0.000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.118

Intolerance Scores

• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.33

Haploinsufficiency Scores

• pHI: 0.143
• hipred: N
• hipred_score: 0.454
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Wdr83os

Gene ontology

• Cellular component: integral component of membrane