RNF214

ring finger protein 214, the group of Ring finger proteins

Basic information

Region (hg38): 11:117232624-117286454

Links

ENSG00000167257 ∙ NCBI:257160 ∙ ∙ HGNC:25335 ∙ Uniprot:Q8ND24 ∙ 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 RNF214 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF214 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				1		1
missense			26	1		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in RNF214

This is a list of pathogenic ClinVar variants found in the RNF214 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-117234307-A-G		not specified	Likely benign (Dec 27, 2023)
11-117234313-C-G		not specified	Uncertain significance (Sep 20, 2023)
11-117234331-C-A		not specified	Uncertain significance (Jan 23, 2024)
11-117234351-T-C		not specified	Uncertain significance (Nov 17, 2023)
11-117238615-C-T		not specified	Uncertain significance (Dec 14, 2023)
11-117238633-C-T		not specified	Uncertain significance (Jun 19, 2024)
11-117238675-A-G		not specified	Uncertain significance (Feb 17, 2023)
11-117238833-A-G		not specified	Uncertain significance (Jul 22, 2022)
11-117238857-A-G		not specified	Uncertain significance (Oct 20, 2021)
11-117238920-C-G		not specified	Uncertain significance (Oct 12, 2022)
11-117238936-A-G		not specified	Uncertain significance (Jul 05, 2023)
11-117239047-G-A		not specified	Uncertain significance (Mar 07, 2024)
11-117239109-C-A		not specified	Uncertain significance (Jan 24, 2024)
11-117239841-A-G		not specified	Uncertain significance (Jun 29, 2023)
11-117239843-G-T		not specified	Uncertain significance (Mar 01, 2023)
11-117244491-A-G		not specified	Uncertain significance (Dec 09, 2023)
11-117244507-G-C		not specified	Uncertain significance (Nov 10, 2022)
11-117246854-A-G		not specified	Uncertain significance (Jan 17, 2024)
11-117246867-T-C		not specified	Uncertain significance (Oct 22, 2021)
11-117246927-A-C		not specified	Uncertain significance (May 10, 2024)
11-117246941-G-C		not specified	Uncertain significance (May 30, 2024)
11-117279941-G-C		not specified	Uncertain significance (Apr 17, 2023)
11-117281378-G-A		not specified	Uncertain significance (Sep 27, 2022)
11-117281395-G-T		not specified	Uncertain significance (Jan 16, 2024)
11-117281943-G-A		not specified	Uncertain significance (Jul 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF214	protein_coding	protein_coding	ENST00000531452	14	53821

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.910	0.0904	124781	0	13	124794	0.0000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	323	387	0.835	0.0000208	4601
Missense in Polyphen		84	136.99	0.61318		1655
Synonymous	-0.220	145	142	1.02	0.00000734	1396
Loss of Function	4.47	6	34.2	0.176	0.00000173	414

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.0000993	0.0000993
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000985	0.0000971
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.501
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.51

Haploinsufficiency Scores

• pHI: 0.165
• hipred: Y
• hipred_score: 0.667
• ghis: 0.545

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0334

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf214

Gene ontology

• Biological process: protein ubiquitination
• Molecular function: ubiquitin-protein transferase activity;metal ion binding