RNF180

ring finger protein 180, the group of Ring finger proteins

Basic information

Region (hg38): 5:64165843-64372869

Links

ENSG00000164197NCBI:285671OMIM:616015HGNC:27752Uniprot:Q86T96AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNF180 gene.

  • not_specified (72 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF180 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001113561.2. 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
64
clinvar
8
clinvar
72
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 64 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNF180protein_codingprotein_codingENST00000389100 7207026
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000002760.9831257080371257450.000147
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6242572870.8960.00001413922
Missense in Polyphen1620.6870.77345262
Synonymous0.09021001010.9890.000004781080
Loss of Function2.181324.70.5260.00000132337

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003930.000391
Ashkenazi Jewish0.0001990.000198
East Asian0.0002720.000217
Finnish0.00004620.0000462
European (Non-Finnish)0.00008820.0000879
Middle Eastern0.0002720.000217
South Asian0.0003270.000327
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: E3 ubiquitin-protein ligase which promotes polyubiquitination and degradation by the proteasome pathway of ZIC2. {ECO:0000250|UniProtKB:Q3U827}.;

Recessive Scores

pRec
0.0769

Intolerance Scores

loftool
0.268
rvis_EVS
0.11
rvis_percentile_EVS
61.91

Haploinsufficiency Scores

pHI
0.413
hipred
N
hipred_score
0.170
ghis
0.515

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.626

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rnf180
Phenotype
homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process
protein polyubiquitination;adult behavior;positive regulation of protein ubiquitination;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;norepinephrine metabolic process;serotonin metabolic process;regulation of catalytic activity
Cellular component
nuclear envelope;integral component of membrane;intrinsic component of endoplasmic reticulum membrane
Molecular function
ubiquitin conjugating enzyme binding;metal ion binding;ubiquitin protein ligase activity