RNF180

ring finger protein 180, the group of Ring finger proteins

Basic information

Region (hg38): 5:64165843-64372869

Links

ENSG00000164197

∙ NCBI:285671 ∙ OMIM:616015 ∙ HGNC:27752 ∙ Uniprot:Q86T96 ∙ 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 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
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

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF180	protein_coding	protein_coding	ENST00000389100	7	207026

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000276	0.983	125708	0	37	125745	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.624	257	287	0.896	0.0000141	3922
Missense in Polyphen		16	20.687	0.77345		262
Synonymous	0.0902	100	101	0.989	0.00000478	1080
Loss of Function	2.18	13	24.7	0.526	0.00000132	337

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000393	0.000391
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000272	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000882	0.0000879
Middle Eastern	0.000272	0.000217
South Asian	0.000327	0.000327
Other	0.000163	0.000163

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

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

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