RNF224

ring finger protein 224, the group of Ring finger proteins

Basic information

Region (hg38): 9:137227502-137229640

Links

ENSG00000233198 ∙ NCBI:643596 ∙ ∙ HGNC:41912 ∙ Uniprot:P0DH78 ∙ 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 RNF224 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF224 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			22			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	22	0	0

Variants in RNF224

This is a list of pathogenic ClinVar variants found in the RNF224 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-137228643-C-T		not specified	Uncertain significance (Jan 03, 2024)
9-137228652-G-A		not specified	Uncertain significance (Oct 03, 2022)
9-137228670-G-A		not specified	Uncertain significance (Dec 11, 2023)
9-137228701-C-T		not specified	Uncertain significance (Mar 07, 2024)
9-137228704-C-T		not specified	Uncertain significance (Dec 18, 2023)
9-137228707-A-G		not specified	Uncertain significance (Mar 07, 2024)
9-137228731-G-A		not specified	Uncertain significance (Dec 08, 2023)
9-137228750-C-A		not specified	Uncertain significance (Jun 03, 2024)
9-137228770-T-C		not specified	Uncertain significance (Sep 13, 2023)
9-137228791-C-T		not specified	Uncertain significance (Jan 18, 2023)
9-137228797-A-G		not specified	Uncertain significance (Aug 17, 2021)
9-137228797-A-T		not specified	Uncertain significance (Dec 19, 2023)
9-137228802-C-T		not specified	Uncertain significance (Apr 17, 2023)
9-137228826-C-T		not specified	Uncertain significance (Nov 14, 2023)
9-137228827-G-A		not specified	Uncertain significance (Sep 17, 2021)
9-137228848-G-T		not specified	Uncertain significance (Mar 01, 2023)
9-137228850-G-A		not specified	Uncertain significance (Jun 18, 2021)
9-137228874-G-A		not specified	Uncertain significance (Jun 05, 2023)
9-137228908-G-C		not specified	Uncertain significance (Dec 14, 2023)
9-137228980-G-A		not specified	Uncertain significance (Dec 19, 2022)
9-137229061-C-T		not specified	Uncertain significance (May 03, 2023)
9-137229078-G-A		not specified	Uncertain significance (Feb 07, 2023)
9-137229081-G-C		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF224	protein_coding	protein_coding	ENST00000445101	2	2073

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0400	0.665	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.234	105	98.5	1.07	0.00000668	968
Missense in Polyphen		33	32.433	1.0175		331
Synonymous	0.0131	44	44.1	0.997	0.00000301	354
Loss of Function	0.467	2	2.85	0.702	1.22e-7	40

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: 0.501

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf224

Gene ontology

• Molecular function: metal ion binding