WBP1L

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

Basic information

Region (hg38): 10:102743948-102834516

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 (28 variants)
• Deficiency of steroid 17-alpha-monooxygenase (18 variants)
• Congenital adrenal hyperplasia (5 variants)
• 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete (4 variants)
• CYP17A1-related disorder (3 variants)
• 17,20-lyase deficiency, isolated (1 variants)
• 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial (1 variants)
• Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (1 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. These statistics are base on transcript: . 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			29			29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)				1		1
Total	0	0	29	1	0

Highest pathogenic variant AF is 0.0000197257

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