PRICKLE4

prickle planar cell polarity protein 4, the group of Prickle planar cell polarity proteins|LIM domain containing

Basic information

Region (hg38): 6:41780782-41787452

Previous symbols: [ "C6orf49" ]

Links

ENSG00000278224 ∙ NCBI:29964 ∙ OMIM:611389 ∙ HGNC:16805 ∙ Uniprot:Q2TBC4 ∙ 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 PRICKLE4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRICKLE4 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			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	28	2	0

Variants in PRICKLE4

This is a list of pathogenic ClinVar variants found in the PRICKLE4 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-41783523-C-T		not specified	Uncertain significance (Jan 04, 2024)
6-41783574-C-T		not specified	Uncertain significance (Oct 05, 2023)
6-41784162-G-T		not specified	Uncertain significance (Jan 16, 2025)
6-41784183-C-G		not specified	Uncertain significance (Jan 03, 2024)
6-41784195-G-C		not specified	Uncertain significance (Jan 10, 2023)
6-41784215-C-A		not specified	Uncertain significance (Nov 13, 2024)
6-41784221-C-A		not specified	Uncertain significance (Dec 27, 2023)
6-41784225-C-T		not specified	Uncertain significance (Dec 19, 2022)
6-41784980-C-A		not specified	Uncertain significance (May 01, 2022)
6-41785031-C-T		not specified	Uncertain significance (Oct 09, 2024)
6-41785034-C-G		not specified	Uncertain significance (Aug 15, 2023)
6-41785056-G-A		not specified	Likely benign (Aug 08, 2022)
6-41785481-C-T		not specified	Uncertain significance (Apr 24, 2024)
6-41785503-C-T		not specified	Uncertain significance (Aug 13, 2021)
6-41785515-G-A		not specified	Uncertain significance (Nov 15, 2024)
6-41785524-G-A		not specified	Uncertain significance (Dec 15, 2024)
6-41786152-G-A		not specified	Uncertain significance (Aug 11, 2023)
6-41786175-T-G		not specified	Uncertain significance (Sep 09, 2021)
6-41786183-A-G		not specified	Uncertain significance (Aug 12, 2021)
6-41786187-C-G		not specified	Uncertain significance (Jul 05, 2023)
6-41786200-T-G		not specified	Uncertain significance (Nov 09, 2021)
6-41786269-G-A		not specified	Uncertain significance (Oct 20, 2023)
6-41786271-G-T		not specified	Uncertain significance (Nov 07, 2024)
6-41786317-G-A		not specified	Uncertain significance (Nov 09, 2024)
6-41786318-G-T		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Pathway: Wnt signaling pathway - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0868

Intolerance Scores

• loftool: 0.409
• rvis_EVS: 0.62
• rvis_percentile_EVS: 83.36

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.325

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prickle4

Gene ontology

• Biological process: biological_process
• Cellular component: nucleus
• Molecular function: molecular_function;zinc ion binding