NEURL4

neuralized E3 ubiquitin protein ligase 4

Basic information

Region (hg38): 17:7315628-7329393

Links

ENSG00000215041NCBI:84461OMIM:615865HGNC:34410Uniprot:Q96JN8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the NEURL4 gene.

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.

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
6
clinvar
5
clinvar
11
missense
117
clinvar
7
clinvar
1
clinvar
125
nonsense
0
start loss
0
frameshift
1
clinvar
1
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 118 13 6

Variants in NEURL4

This is a list of pathogenic ClinVar variants found in the NEURL4 region.

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

Position Type Phenotype Significance ClinVar
17-7316155-G-T not specified Uncertain significance (Jun 18, 2024)3299379
17-7316163-C-T not specified Uncertain significance (Dec 28, 2024)3878917
17-7316233-C-T Likely benign (Oct 01, 2024)3390331
17-7316247-G-A not specified Uncertain significance (Oct 01, 2024)2377114
17-7316271-C-G not specified Uncertain significance (Jul 25, 2023)2593836
17-7316299-G-A not specified Uncertain significance (Jan 28, 2025)3878922
17-7316305-G-A not specified Uncertain significance (Feb 06, 2024)3195241
17-7317253-G-C not specified Uncertain significance (Oct 20, 2024)3404513
17-7317266-G-A not specified Uncertain significance (Jun 02, 2023)2556176
17-7317329-G-C not specified Uncertain significance (Apr 19, 2023)2538702
17-7317344-G-C not specified Uncertain significance (Jul 27, 2024)3404498
17-7317367-G-A not specified Uncertain significance (Mar 07, 2023)2466931
17-7317475-CCTCGGTCCAGCACT-C NEURL4-related disorder Uncertain significance (Jan 03, 2022)1333665
17-7317500-C-T not specified Uncertain significance (Jun 22, 2023)2605263
17-7317522-T-G Benign (Mar 29, 2018)714725
17-7317527-T-C Benign (Jan 26, 2018)771020
17-7317848-C-T not specified Uncertain significance (Jul 27, 2021)2397314
17-7317854-T-C not specified Uncertain significance (Nov 10, 2024)3404517
17-7317858-C-T not specified Uncertain significance (Oct 09, 2024)3404509
17-7317914-G-A not specified Uncertain significance (Jul 20, 2021)2378314
17-7318092-G-A not specified Uncertain significance (Oct 25, 2023)3195221
17-7318113-C-T not specified Uncertain significance (Aug 14, 2023)2618014
17-7318136-G-A not specified Uncertain significance (Jun 17, 2024)3299378
17-7318157-A-G not specified Uncertain significance (Jun 29, 2023)2598432
17-7318323-T-C not specified Uncertain significance (Mar 31, 2024)3299376

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NEURL4protein_codingprotein_codingENST00000399464 2913766
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.000.00001011248260151248410.0000601
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.957329940.7370.000064410038
Missense in Polyphen182314.720.578293029
Synonymous0.1074164190.9930.00002823364
Loss of Function6.72867.60.1180.00000350723

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005790.0000579
Ashkenazi Jewish0.0001000.0000993
East Asian0.0001110.000111
Finnish0.000.00
European (Non-Finnish)0.00006360.0000618
Middle Eastern0.0001110.000111
South Asian0.00009820.0000980
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Neurl4
Phenotype

Gene ontology

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