RING1

ring finger protein 1, the group of Ring finger proteins

Basic information

Region (hg38): 6:33208499-33212722

Links

ENSG00000204227 ∙ NCBI:6015 ∙ OMIM:602045 ∙ HGNC:10018 ∙ Uniprot:Q06587 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

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	1
missense			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	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		not specified	Uncertain significance (May 18, 2022)
6-33209928-C-T		not specified	Uncertain significance (Jan 25, 2024)
6-33209959-G-A			Uncertain significance (Jul 29, 2021)
6-33210005-C-T			Benign (Jan 01, 2023)
6-33210015-C-T		not specified	Uncertain significance (Mar 07, 2024)
6-33210063-C-T		not specified	Uncertain significance (Mar 23, 2022)
6-33211285-G-A		not specified	Likely benign (Jul 28, 2021)
6-33211324-G-A		not specified	Uncertain significance (Apr 04, 2023)
6-33211328-G-A		not specified	Uncertain significance (Sep 22, 2022)
6-33211328-G-T		not specified	Uncertain significance (Oct 27, 2022)
6-33211430-C-T		not specified	Uncertain significance (Aug 23, 2021)
6-33211451-C-T		not specified	Uncertain significance (Feb 15, 2023)
6-33211462-A-C		not specified	Uncertain significance (Jun 22, 2021)
6-33211802-C-T		not specified	Uncertain significance (Jul 12, 2023)
6-33211888-G-C		not specified	Uncertain significance (May 23, 2023)
6-33211901-G-A		not specified	Uncertain significance (Jan 09, 2024)
6-33211908-G-A		not specified	Uncertain significance (Oct 05, 2022)
6-33211995-C-T		not specified	Uncertain significance (Dec 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RING1	protein_coding	protein_coding	ENST00000374656	6	4228

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.649	0.351	125716	0	6	125722	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.56	133	246	0.541	0.0000155	2554
Missense in Polyphen		3	15.481	0.19379		168
Synonymous	-0.0676	100	99.1	1.01	0.00000569	873
Loss of Function	3.07	3	16.4	0.183	0.00000105	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000388	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

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

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