RAD18

RAD18 E3 ubiquitin protein ligase, the group of Ring finger proteins

Basic information

Region (hg38): 3:8775401-8963773

Links

ENSG00000070950 ∙ NCBI:56852 ∙ OMIM:605256 ∙ HGNC:18278 ∙ Uniprot:Q9NS91 ∙ 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 RAD18 gene.

• Inborn genetic diseases (20 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAD18 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						0
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	1	0

Variants in RAD18

This is a list of pathogenic ClinVar variants found in the RAD18 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-8881404-C-T		not specified	Uncertain significance (Jun 12, 2023)
3-8898936-A-G		not specified	Uncertain significance (Jul 26, 2022)
3-8898951-G-C		not specified	Uncertain significance (Apr 12, 2023)
3-8898987-G-A		not specified	Uncertain significance (Apr 13, 2022)
3-8902409-G-C		not specified	Uncertain significance (Dec 26, 2023)
3-8902415-T-A		not specified	Uncertain significance (Aug 02, 2021)
3-8902455-C-A		not specified	Uncertain significance (Jun 01, 2023)
3-8902476-T-C		not specified	Uncertain significance (Aug 02, 2021)
3-8913670-G-C		not specified	Uncertain significance (Nov 14, 2023)
3-8935927-T-A		not specified	Uncertain significance (Jul 15, 2021)
3-8935999-C-T		not specified	Uncertain significance (May 27, 2022)
3-8936035-G-A			Likely benign (Feb 01, 2023)
3-8939582-G-A		not specified	Uncertain significance (Nov 29, 2023)
3-8939636-C-T		not specified	Uncertain significance (Dec 20, 2022)
3-8941499-G-A		not specified	Conflicting classifications of pathogenicity (Feb 01, 2023)
3-8941553-C-T		not specified	Uncertain significance (Nov 08, 2022)
3-8941583-G-A		not specified	Uncertain significance (Mar 01, 2023)
3-8941595-G-A		not specified	Uncertain significance (Oct 26, 2021)
3-8941640-G-A		not specified	Uncertain significance (Dec 08, 2023)
3-8941678-C-A		not specified	Uncertain significance (May 13, 2022)
3-8941679-C-G		not specified	Uncertain significance (Oct 03, 2022)
3-8941724-A-C		not specified	Uncertain significance (Sep 22, 2022)
3-8948553-T-C		not specified	Uncertain significance (Jun 29, 2022)
3-8948558-C-G		not specified	Uncertain significance (May 31, 2023)
3-8958935-G-T		not specified	Uncertain significance (May 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAD18	protein_coding	protein_coding	ENST00000264926	13	188370

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.58e-8	0.842	125662	0	86	125748	0.000342

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.135	267	261	1.02	0.0000139	3261
Missense in Polyphen		56	68.562	0.81678		864
Synonymous	-0.394	93	88.3	1.05	0.00000464	878
Loss of Function	1.60	16	24.5	0.652	0.00000112	350

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000236	0.000211
Ashkenazi Jewish	0.000496	0.000496
East Asian	0.000376	0.000326
Finnish	0.000614	0.000601
European (Non-Finnish)	0.000326	0.000316
Middle Eastern	0.000376	0.000326
South Asian	0.000768	0.000621
Other	0.000336	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase involved in postreplication repair of UV-damaged DNA. Postreplication repair functions in gap- filling of a daughter strand on replication of damaged DNA. Associates to the E2 ubiquitin conjugating enzyme UBE2B to form the UBE2B-RAD18 ubiquitin ligase complex involved in mono- ubiquitination of DNA-associated PCNA on 'Lys-164'. Has ssDNA binding activity. {ECO:0000269|PubMed:17108083, ECO:0000269|PubMed:21659603}.
• Pathway: DNA Repair;Post-translational protein modification;Metabolism of proteins;Recognition of DNA damage by PCNA-containing replication complex;Protein ubiquitination;DNA Damage Bypass;E3 ubiquitin ligases ubiquitinate target proteins (Consensus)

Recessive Scores

• pRec: 0.0799

Intolerance Scores

• loftool: 0.634
• rvis_EVS: 0.04
• rvis_percentile_EVS: 57.31

Haploinsufficiency Scores

• pHI: 0.252
• hipred: Y
• hipred_score: 0.565
• ghis: 0.613

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.957

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rad18
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; homeostasis/metabolism phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: DNA repair;postreplication repair;protein monoubiquitination;cellular response to DNA damage stimulus;response to UV;protein ubiquitination;DNA damage response, detection of DNA damage;protein autoubiquitination;positive regulation of chromosome segregation;negative regulation of cell death
• Cellular component: nucleus;nucleoplasm;replication fork;cytoplasm;centrosome;nuclear body;site of double-strand break;nuclear inclusion body;Rad6-Rad18 complex
• Molecular function: Y-form DNA binding;damaged DNA binding;single-stranded DNA binding;protein binding;polyubiquitin modification-dependent protein binding;ubiquitin protein ligase binding;identical protein binding;single-stranded DNA-dependent ATPase activity;protein-containing complex binding;metal ion binding;ubiquitin protein ligase activity