RNF14

ring finger protein 14, the group of Ring finger proteins|RBR E3 ubiquitin ligases

Basic information

Region (hg38): 5:141958327-141990292

Links

ENSG00000013561 ∙ NCBI:9604 ∙ OMIM:605675 ∙ HGNC:10058 ∙ Uniprot:Q9UBS8 ∙ 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 RNF14 gene.

• Inborn genetic diseases (13 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF14 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	1

Variants in RNF14

This is a list of pathogenic ClinVar variants found in the RNF14 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-141959001-C-G			Benign (May 14, 2021)
5-141959206-A-G			Benign (May 13, 2021)
5-141959262-G-A			Benign (May 15, 2021)
5-141974829-T-G		not specified	Uncertain significance (Mar 03, 2022)
5-141974909-C-T		not specified	Uncertain significance (Jan 17, 2024)
5-141974950-A-T		not specified	Uncertain significance (Oct 22, 2021)
5-141978318-A-G		not specified	Uncertain significance (Mar 14, 2023)
5-141978347-C-A		not specified	Uncertain significance (Jan 04, 2024)
5-141978487-A-G		not specified	Uncertain significance (Jul 09, 2021)
5-141978603-G-A		not specified	Uncertain significance (Jun 05, 2023)
5-141978647-G-C		not specified	Uncertain significance (May 24, 2023)
5-141978742-A-C		not specified	Uncertain significance (Nov 23, 2021)
5-141978799-C-A		not specified	Uncertain significance (Sep 29, 2022)
5-141978804-T-C		not specified	Uncertain significance (Jan 23, 2024)
5-141980157-G-A		not specified	Uncertain significance (Oct 13, 2023)
5-141980184-C-T		not specified	Uncertain significance (May 27, 2022)
5-141980240-G-A		not specified	Uncertain significance (Nov 21, 2022)
5-141980347-T-G			Benign (Sep 10, 2018)
5-141980349-C-T		not specified	Uncertain significance (Jun 02, 2023)
5-141984822-A-T		not specified	Uncertain significance (Sep 01, 2021)
5-141984906-A-G		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF14	protein_coding	protein_coding	ENST00000394520	7	31964

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00111	0.997	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.38	187	248	0.753	0.0000125	3135
Missense in Polyphen		30	65.304	0.45939		855
Synonymous	0.0542	93	93.7	0.993	0.00000495	858
Loss of Function	2.71	9	23.1	0.390	0.00000114	293

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000153	0.000151
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000217	0.000217
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Might act as an E3 ubiquitin-protein ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes and then transfers it to substrates, which could be nuclear proteins. Could play a role as a coactivator for androgen- and, to a lesser extent, progesterone-dependent transcription. {ECO:0000269|PubMed:19345326}.
• Pathway: Androgen receptor signaling pathway;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;AndrogenReceptor (Consensus)

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.105
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.183
• hipred: Y
• hipred_score: 0.674
• ghis: 0.621

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.987

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf14

Gene ontology

• Biological process: protein polyubiquitination;regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;ubiquitin-dependent protein catabolic process;signal transduction;protein ubiquitination;androgen receptor signaling pathway;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;positive regulation of transcription, DNA-templated;regulation of androgen receptor signaling pathway
• Cellular component: ubiquitin ligase complex;nucleus;cytoplasm;cytosol
• Molecular function: transcription coactivator activity;protein binding;ubiquitin-like protein transferase activity;ubiquitin conjugating enzyme binding;metal ion binding;androgen receptor binding;ubiquitin protein ligase activity