CELSR3

cadherin EGF LAG seven-pass G-type receptor 3, the group of Adhesion G protein-coupled receptors, subfamily C|MicroRNA protein coding host genes|CELSR cadherins

Basic information

Region (hg38): 3:48636463-48662886

Previous symbols: [ "EGFL1" ]

Links

ENSG00000008300

∙ NCBI:1951 ∙ OMIM:604264 ∙ HGNC:3230 ∙ Uniprot:Q9NYQ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

complex neurodevelopmental disorder (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CELSR3 gene.

not_specified (417 variants)
not_provided (44 variants)
CELSR3-related_disorder (33 variants)
See_cases (14 variants)
Tourette_syndrome (3 variants)
Bladder_exstrophy-epispadias-cloacal_extrophy_complex (3 variants)
Congenital_anomalies_of_kidney_and_urinary_tract_1 (2 variants)
Variant_of_unknown_significance (1 variants)
Hypertrophic_cardiomyopathy (1 variants)
Autism_spectrum_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CELSR3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001407.3. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	25 clinvar	4 clinvar	32
missense		13 clinvar	415 clinvar	28 clinvar	16 clinvar	472
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar	1 clinvar		4
Total	0	13	421	54	20

Highest pathogenic variant AF is 0.00013876671

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CELSR3	protein_coding	protein_coding	ENST00000164024	35	26447

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125676	1	71	125748	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.08	1554	2.08e+3	0.748	0.000135	21145
Missense in Polyphen		530	903.29	0.58674		9468
Synonymous	2.01	810	886	0.914	0.0000573	7324
Loss of Function	8.54	21	123	0.170	0.00000693	1231

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00215	0.00215
Ashkenazi Jewish	0.000203	0.000198
East Asian	0.0000544	0.0000544
Finnish	0.000237	0.000231
European (Non-Finnish)	0.000116	0.000114
Middle Eastern	0.0000544	0.0000544
South Asian	0.000458	0.000359
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Receptor that may have an important role in cell/cell signaling during nervous system formation.;
Pathway: GPCRs, Other (Consensus)

Recessive Scores

pRec: 0.245

Intolerance Scores

loftool: 0.385
rvis_EVS: -4.27
rvis_percentile_EVS: 0.11

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.844

Gene Damage Prediction

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

Zebrafish Information Network

Gene name: celsr3
Affected structure: ON-bipolar cell
Phenotype tag: abnormal
Phenotype quality: functionality

Gene ontology

Biological process: neuron migration;regulation of protein phosphorylation;homophilic cell adhesion via plasma membrane adhesion molecules;G protein-coupled receptor signaling pathway;axonal fasciculation;regulation of protein localization;dopaminergic neuron axon guidance;serotonergic neuron axon guidance;Wnt signaling pathway, planar cell polarity pathway;cilium assembly;planar cell polarity pathway involved in axon guidance
Cellular component: plasma membrane;integral component of membrane
Molecular function: G protein-coupled receptor activity;calcium ion binding;protein binding