WBP1

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

Basic information

Region (hg38): 2:74458399-74460891

Links

ENSG00000239779 ∙ NCBI:23559 ∙ OMIM:606961 ∙ HGNC:12737 ∙ Uniprot:Q96G27 ∙ 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 WBP1 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the WBP1 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in WBP1

This is a list of pathogenic ClinVar variants found in the WBP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-74458633-G-A		not specified	Uncertain significance (Oct 06, 2023)
2-74459676-C-T		not specified	Uncertain significance (Jun 26, 2023)
2-74459690-G-C		not specified	Uncertain significance (Jan 23, 2024)
2-74459692-G-A		not specified	Uncertain significance (Nov 07, 2022)
2-74459926-C-T		not specified	Uncertain significance (Oct 12, 2021)
2-74459933-G-A		not specified	Uncertain significance (Jul 15, 2021)
2-74459965-C-T		not specified	Uncertain significance (Oct 06, 2023)
2-74460028-A-G		not specified	Uncertain significance (May 24, 2023)
2-74460289-C-T		not specified	Uncertain significance (Dec 13, 2022)
2-74460333-A-T		not specified	Uncertain significance (Sep 16, 2021)
2-74460413-G-C		not specified	Uncertain significance (May 27, 2022)
2-74460481-C-T		not specified	Uncertain significance (Dec 08, 2023)
2-74460488-G-A		not specified	Uncertain significance (Apr 07, 2022)
2-74460490-C-T		not specified	Uncertain significance (Jan 04, 2022)
2-74460517-C-T		not specified	Uncertain significance (Mar 01, 2024)
2-74460553-G-T		not specified	Uncertain significance (Jul 07, 2022)
2-74460632-C-T		not specified	Uncertain significance (Dec 19, 2023)
2-74460676-C-T		not specified	Uncertain significance (Oct 26, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
WBP1	protein_coding	protein_coding	ENST00000233615	4	2563

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.58e-8	0.266	125690	0	56	125746	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.550	185	165	1.12	0.00000948	1716
Missense in Polyphen		71	64.11	1.1075		646
Synonymous	-1.37	79	65.0	1.22	0.00000362	569
Loss of Function	0.446	12	13.8	0.870	9.40e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000791	0.000785
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.000323	0.000323
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.00	0.00
South Asian	0.000261	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.303
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.506
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.837

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Wbp1

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component
• Molecular function: protein binding;WW domain binding