WBP1L

WW domain binding protein 1 like, the group of WBP1/VOPP1 family

Basic information

Region (hg38): 10:102743947-102834516

Previous symbols: [ "C10orf26" ]

Links

ENSG00000166272 ∙ NCBI:54838 ∙ OMIM:611129 ∙ HGNC:23510 ∙ Uniprot:Q9NX94 ∙ 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 WBP1L gene.

• not provided (156 variants)
• Deficiency of steroid 17-alpha-monooxygenase (64 variants)
• Inborn genetic diseases (20 variants)
• Congenital adrenal hyperplasia (7 variants)
• 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete (6 variants)
• CYP17A1-related condition (3 variants)
• 17,20-lyase deficiency, isolated (2 variants)
• not specified (2 variants)
• 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WBP1L 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						0
missense			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region	1	1	1	1		4
non coding	27	29	22	88	10	176
Total	27	29	35	89	10

Highest pathogenic variant AF is 0.0000197

Variants in WBP1L

This is a list of pathogenic ClinVar variants found in the WBP1L region.

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

Position	Type	Phenotype	Significance	ClinVar
10-102744135-C-T		not specified	Uncertain significance (Sep 16, 2021)
10-102809986-G-A		not specified	Uncertain significance (Sep 14, 2023)
10-102810016-G-A		not specified	Uncertain significance (Jun 18, 2021)
10-102810037-C-T		not specified	Uncertain significance (Aug 26, 2022)
10-102812733-C-G		not specified	Uncertain significance (Mar 20, 2023)
10-102812748-C-T		not specified	Uncertain significance (Apr 27, 2022)
10-102812787-C-T		not specified	Uncertain significance (Oct 10, 2023)
10-102812813-C-T		not specified	Uncertain significance (Jan 10, 2023)
10-102812895-G-A		not specified	Uncertain significance (Feb 28, 2023)
10-102813002-G-A		not specified	Uncertain significance (Oct 14, 2023)
10-102813077-C-T		not specified	Uncertain significance (Aug 02, 2022)
10-102813105-A-G		not specified	Uncertain significance (Oct 10, 2023)
10-102813170-C-T		not specified	Uncertain significance (Jul 06, 2021)
10-102813186-A-C		not specified	Uncertain significance (May 11, 2022)
10-102813201-G-A		not specified	Uncertain significance (Jul 20, 2021)
10-102813240-C-T		not specified	Uncertain significance (Nov 08, 2022)
10-102830536-G-GA		Congenital adrenal hyperplasia	Uncertain significance (Jun 14, 2016)
10-102830572-G-A		Deficiency of steroid 17-alpha-monooxygenase	Uncertain significance (Jan 12, 2018)
10-102830635-G-T		Deficiency of steroid 17-alpha-monooxygenase	Uncertain significance (Jan 13, 2018)
10-102830637-G-T		Deficiency of steroid 17-alpha-monooxygenase	Uncertain significance (Jan 13, 2018)
10-102830705-G-A			Conflicting classifications of pathogenicity (Dec 05, 2023)
10-102830705-G-C			Likely benign (Mar 19, 2022)
10-102830708-G-A			Likely benign (Mar 22, 2023)
10-102830708-G-T		Inborn genetic diseases	Uncertain significance (Mar 20, 2023)
10-102830714-C-G			Uncertain significance (Aug 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WBP1L	protein_coding	protein_coding	ENST00000448841	4	72295

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.640	0.360	125727	0	20	125747	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	172	214	0.803	0.0000122	2364
Missense in Polyphen		33	68.857	0.47926		915
Synonymous	-0.0193	91	90.8	1.00	0.00000531	740
Loss of Function	3.06	3	16.3	0.184	0.00000107	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000532	0.000528
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.51

Haploinsufficiency Scores

• pHI: 0.800
• hipred: Y
• hipred_score: 0.595
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wbp1l

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: protein binding