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GeneBe

RING1

ring finger protein 1, the group of Ring finger proteins

Basic information

Region (hg38): 6:33208499-33212722

Links

ENSG00000204227NCBI:6015OMIM:602045HGNC:10018Uniprot:Q06587AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • complex neurodevelopmental disorder (Limited), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RING1 gene.

  • Inborn genetic diseases (11 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RING1 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
clinvar
1
missense
10
clinvar
1
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 10 1 1

Variants in RING1

This is a list of pathogenic ClinVar variants found in the RING1 region.

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

Position Type Phenotype Significance ClinVar
6-33208848-A-G Inborn genetic diseases Uncertain significance (May 18, 2022)2404918
6-33209959-G-A Uncertain significance (Jul 29, 2021)1185046
6-33210005-C-T Benign (Jan 01, 2023)791566
6-33210063-C-T Inborn genetic diseases Uncertain significance (Mar 23, 2022)2225127
6-33211285-G-A Inborn genetic diseases Likely benign (Jul 28, 2021)2229718
6-33211324-G-A Inborn genetic diseases Uncertain significance (Apr 04, 2023)2524314
6-33211328-G-A Inborn genetic diseases Uncertain significance (Sep 22, 2022)2388748
6-33211328-G-T Inborn genetic diseases Uncertain significance (Oct 27, 2022)2320971
6-33211430-C-T Inborn genetic diseases Uncertain significance (Aug 23, 2021)2229414
6-33211451-C-T Inborn genetic diseases Uncertain significance (Feb 15, 2023)2485051
6-33211802-C-T Inborn genetic diseases Uncertain significance (Jul 12, 2023)2611702
6-33211888-G-C Inborn genetic diseases Uncertain significance (May 23, 2023)2549604
6-33211908-G-A Inborn genetic diseases Uncertain significance (Oct 05, 2022)2317222

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RING1protein_codingprotein_codingENST00000374656 64228
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6490.351125716061257220.0000239
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.561332460.5410.00001552554
Missense in Polyphen315.4810.19379168
Synonymous-0.067610099.11.010.00000569873
Loss of Function3.07316.40.1830.00000105178

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002920.0000292
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004630.0000462
European (Non-Finnish)0.00003880.0000352
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Constitutes one of the E3 ubiquitin-protein ligases that mediate monoubiquitination of 'Lys-119' of histone H2A, thereby playing a central role in histone code and gene regulation. H2A 'Lys-119' ubiquitination gives a specific tag for epigenetic transcriptional repression and participates in X chromosome inactivation of female mammals. Essential component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones, rendering chromatin heritably changed in its expressibility. Compared to RNF2/RING2, it does not have the main E3 ubiquitin ligase activity on histone H2A, and it may rather act as a modulator of RNF2/RING2 activity. {ECO:0000269|PubMed:16359901}.;
Pathway
Notch Signaling Pathway;Notch;Signal Transduction;Gene expression (Transcription);RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known;the prc2 complex sets long-term gene silencing through modification of histone tails;Transcriptional Regulation by E2F6;Generic Transcription Pathway;Oxidative Stress Induced Senescence;SUMOylation of DNA damage response and repair proteins;Cellular Senescence;SUMOylation of chromatin organization proteins;Cellular responses to stress;SUMOylation of RNA binding proteins;Post-translational protein modification;SUMO E3 ligases SUMOylate target proteins;Metabolism of proteins;RNA Polymerase II Transcription;SUMOylation;Cellular responses to external stimuli;Regulation of PTEN gene transcription;PTEN Regulation;PIP3 activates AKT signaling;Intracellular signaling by second messengers;Transcriptional regulation by RUNX1 (Consensus)

Recessive Scores

pRec
0.153

Intolerance Scores

loftool
0.192
rvis_EVS
-0.36
rvis_percentile_EVS
28.63

Haploinsufficiency Scores

pHI
0.386
hipred
Y
hipred_score
0.717
ghis
0.562

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.959

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ring1
Phenotype
skeleton phenotype;

Gene ontology

Biological process
anterior/posterior pattern specification;histone H2A monoubiquitination;negative regulation of transcription, DNA-templated;camera-type eye morphogenesis;regulation of catalytic activity;negative regulation of G0 to G1 transition
Cellular component
sex chromatin;nucleus;nucleoplasm;cytosol;nuclear speck;PcG protein complex;PRC1 complex
Molecular function
chromatin binding;protein binding;transferase activity;metal ion binding;ubiquitin-protein transferase activator activity