NEURL4

neuralized E3 ubiquitin protein ligase 4

Basic information

Region (hg38): 17:7315628-7329393

Links

ENSG00000215041

∙ NCBI:84461 ∙ OMIM:615865 ∙ HGNC:34410 ∙ Uniprot:Q96JN8 ∙ 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 NEURL4 gene.

not_specified (177 variants)
not_provided (20 variants)
NEURL4-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NEURL4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032442.3. 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	7 clinvar	4 clinvar	14
missense			183 clinvar	8 clinvar	1 clinvar	192
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	193	15	5

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NEURL4	protein_coding	protein_coding	ENST00000399464	29	13766

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000101	124826	0	15	124841	0.0000601

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.95	732	994	0.737	0.0000644	10038
Missense in Polyphen		182	314.72	0.57829		3029
Synonymous	0.107	416	419	0.993	0.0000282	3364
Loss of Function	6.72	8	67.6	0.118	0.00000350	723

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000579	0.0000579
Ashkenazi Jewish	0.000100	0.0000993
East Asian	0.000111	0.000111
Finnish	0.00	0.00
European (Non-Finnish)	0.0000636	0.0000618
Middle Eastern	0.000111	0.000111
South Asian	0.0000982	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Promotes CCP110 ubiquitination and proteasome-dependent degradation. By counteracting accumulation of CP110, maintains normal centriolar homeostasis and preventing formation of ectopic microtubular organizing centers. {ECO:0000269|PubMed:22261722, ECO:0000269|PubMed:22441691}.;

Intolerance Scores

loftool: 0.272
rvis_EVS: -0.18
rvis_percentile_EVS: 39.96

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.332
ghis: 0.551

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.587

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Neurl4
Phenotype

Gene ontology

Biological process
Cellular component: centriole
Molecular function: protein binding;ubiquitin protein ligase activity