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RNF14

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

Basic information

Region (hg38): 5:141958327-141990292

Links

ENSG00000013561NCBI:9604OMIM:605675HGNC:10058Uniprot:Q9UBS8AlphaFoldGenCCjaxSfariGnomADPubmed

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 (8 variants)
  • not provided (4 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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 1 1
missense 8 8
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 3 3
Total 0 0 8 0 4

Variants in RNF14

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

Position Type Phenotype Significance ClinVar
5-141959001-C-G Benign (May 14, 2021)link
5-141959206-A-G Benign (May 13, 2021)link
5-141959262-G-A Benign (May 15, 2021)link
5-141974829-T-G Inborn genetic diseases Uncertain significance (Mar 03, 2022)link
5-141974950-A-T Inborn genetic diseases Uncertain significance (Oct 22, 2021)link
5-141978318-A-G Inborn genetic diseases Uncertain significance (Mar 14, 2023)link
5-141978487-A-G Inborn genetic diseases Uncertain significance (Jul 09, 2021)link
5-141978603-G-A Inborn genetic diseases Uncertain significance (Jun 05, 2023)link
5-141978647-G-C Inborn genetic diseases Uncertain significance (May 24, 2023)link
5-141978742-A-C Inborn genetic diseases Uncertain significance (Nov 23, 2021)link
5-141978799-C-A Inborn genetic diseases Uncertain significance (Sep 29, 2022)link
5-141980184-C-T Inborn genetic diseases Uncertain significance (May 27, 2022)link
5-141980240-G-A Inborn genetic diseases Uncertain significance (Nov 21, 2022)link
5-141980347-T-G Benign (Sep 10, 2018)link
5-141980349-C-T Inborn genetic diseases Uncertain significance (Jun 02, 2023)link
5-141984822-A-T Inborn genetic diseases Uncertain significance (Sep 01, 2021)link
5-141984906-A-G Inborn genetic diseases Uncertain significance (Feb 23, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNF14protein_codingprotein_codingENST00000394520 731964
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.001110.9971257200281257480.000111
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.381872480.7530.00001253135
Missense in Polyphen3065.3040.45939855
Synonymous0.05429393.70.9930.00000495858
Loss of Function2.71923.10.3900.00000114293

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001530.000151
Ashkenazi Jewish0.000.00
East Asian0.0002170.000217
Finnish0.000.00
European (Non-Finnish)0.0001590.000158
Middle Eastern0.0002170.000217
South Asian0.00006540.0000653
Other0.000.00

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rnf14
Phenotype

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