PDZRN4

PDZ domain containing ring finger 4, the group of PDZ domain containing|Ring finger proteins

Basic information

Region (hg38): 12:41188320-41574745

Links

ENSG00000165966NCBI:29951OMIM:609730HGNC:30552Uniprot:Q6ZMN7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PDZRN4 gene.

  • not_specified (131 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PDZRN4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001164595.2. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
128
clinvar
3
clinvar
131
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 128 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PDZRN4protein_codingprotein_codingENST00000402685 10386143
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
9.14e-71.001257090391257480.000155
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.05965355311.010.00002896743
Missense in Polyphen211221.370.953132577
Synonymous-0.1302052031.010.00001111949
Loss of Function3.611843.70.4120.00000258521

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003760.000333
Ashkenazi Jewish0.000.00
East Asian0.0004500.000435
Finnish0.0001780.000139
European (Non-Finnish)0.0001250.000123
Middle Eastern0.0004500.000435
South Asian0.0002430.000229
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.121

Intolerance Scores

loftool
0.733
rvis_EVS
1.41
rvis_percentile_EVS
94.77

Haploinsufficiency Scores

pHI
0.125
hipred
N
hipred_score
0.436
ghis
0.441

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.301

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyHighMediumHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Pdzrn4
Phenotype

Gene ontology

Biological process
protein ubiquitination
Cellular component
Molecular function
metal ion binding;ubiquitin protein ligase activity