RNF225

ring finger protein 225, the group of Ring finger proteins

Basic information

Region (hg38): 19:58395656-58397079

Links

ENSG00000269855 ∙ NCBI:646862 ∙ ∙ HGNC:51249 ∙ Uniprot:M0QZC1 ∙ 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 RNF225 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF225 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			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	0	0

Variants in RNF225

This is a list of pathogenic ClinVar variants found in the RNF225 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58396097-G-T		not specified	Uncertain significance (Oct 20, 2021)
19-58396122-T-G		not specified	Uncertain significance (May 08, 2024)
19-58396172-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-58396271-C-T		not specified	Uncertain significance (Feb 02, 2022)
19-58396286-T-A		not specified	Uncertain significance (Jun 21, 2023)
19-58396290-C-G		not specified	Uncertain significance (Jul 26, 2022)
19-58396292-T-C		not specified	Uncertain significance (Dec 06, 2022)
19-58396355-T-C		not specified	Uncertain significance (Jun 21, 2023)
19-58396367-C-A		not specified	Uncertain significance (Nov 08, 2021)
19-58396415-C-T		not specified	Uncertain significance (Mar 07, 2023)
19-58396430-C-G		not specified	Uncertain significance (Feb 28, 2024)
19-58396435-C-T		not specified	Uncertain significance (Jul 30, 2023)
19-58396498-G-A		not specified	Uncertain significance (Aug 09, 2021)
19-58396502-G-C		not specified	Uncertain significance (Nov 03, 2022)
19-58396510-C-T		not specified	Uncertain significance (Dec 27, 2023)
19-58396531-C-G		not specified	Uncertain significance (Oct 13, 2023)
19-58396532-G-A		not specified	Uncertain significance (Dec 20, 2021)
19-58396571-C-T		not specified	Uncertain significance (Jul 13, 2021)
19-58396592-G-A		not specified	Uncertain significance (Dec 21, 2022)
19-58396592-G-C		not specified	Uncertain significance (Dec 14, 2021)
19-58396607-C-T		not specified	Uncertain significance (May 24, 2024)
19-58396613-C-G		not specified	Uncertain significance (Apr 08, 2024)
19-58396619-C-T		not specified	Uncertain significance (Jan 09, 2024)
19-58396640-C-A		not specified	Uncertain significance (Dec 13, 2022)
19-58396652-G-A		not specified	Uncertain significance (Mar 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF225	protein_coding	protein_coding	ENST00000601382	1	951

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0290	0.603	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.170	136	131	1.04	0.00000732	1915
Missense in Polyphen		41	42.749	0.95908		772
Synonymous	0.221	66	68.3	0.966	0.00000428	779
Loss of Function	0.157	2	2.25	0.887	9.67e-8	29

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: 0.420

Mouse Genome Informatics

• Gene name: Rnf225

Gene ontology

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