RNF222

ring finger protein 222, the group of Ring finger proteins

Basic information

Region (hg38): 17:8390702-8397827

Links

ENSG00000189051 ∙ NCBI:643904 ∙ ∙ HGNC:34517 ∙ Uniprot:A6NCQ9 ∙ 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 RNF222 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF222 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						0
missense			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in RNF222

This is a list of pathogenic ClinVar variants found in the RNF222 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-8392830-G-A		not specified	Uncertain significance (Oct 02, 2023)
17-8392890-G-C		not specified	Uncertain significance (Nov 03, 2022)
17-8392891-A-G		not specified	Uncertain significance (Jun 11, 2024)
17-8392926-A-G		not specified	Likely benign (Oct 22, 2021)
17-8392936-C-T		not specified	Uncertain significance (Jun 11, 2024)
17-8392942-G-A		not specified	Uncertain significance (Nov 18, 2022)
17-8392992-A-G		not specified	Uncertain significance (Mar 28, 2024)
17-8393026-C-G		not specified	Uncertain significance (Nov 23, 2021)
17-8393029-G-A		not specified	Uncertain significance (Jun 27, 2022)
17-8393096-C-G		not specified	Uncertain significance (Dec 18, 2023)
17-8393100-C-G		not specified	Uncertain significance (Jan 05, 2022)
17-8393131-C-T		not specified	Uncertain significance (May 23, 2023)
17-8393202-G-A		not specified	Uncertain significance (Aug 10, 2023)
17-8393202-G-T		not specified	Uncertain significance (Jun 21, 2022)
17-8393214-T-C		not specified	Uncertain significance (Jan 26, 2023)
17-8393235-C-T		not specified	Uncertain significance (Jan 05, 2022)
17-8393236-G-A		not specified	Uncertain significance (Dec 20, 2023)
17-8393250-C-A		not specified	Uncertain significance (Jan 17, 2024)
17-8393263-C-T		not specified	Uncertain significance (Aug 12, 2022)
17-8393287-G-C		not specified	Uncertain significance (Mar 07, 2024)
17-8393314-G-A		not specified	Uncertain significance (Dec 21, 2023)
17-8393329-A-T		not specified	Uncertain significance (Feb 13, 2024)
17-8393366-G-C		not specified	Uncertain significance (Jan 23, 2024)
17-8393431-C-T		not specified	Uncertain significance (Jun 01, 2023)
17-8393436-C-T		not specified	Uncertain significance (May 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF222	protein_coding	protein_coding	ENST00000399398	1	7123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000281	0.353	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.581	109	127	0.855	0.00000882	1358
Missense in Polyphen		37	41.834	0.88446		457
Synonymous	1.10	52	63.1	0.824	0.00000442	507
Loss of Function	-0.213	5	4.51	1.11	2.66e-7	49

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.479

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.287

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf222

Gene ontology

• Cellular component: integral component of membrane
• Molecular function: metal ion binding