RDM1

RAD52 motif containing 1, the group of RNA binding motif containing

Basic information

Region (hg38): 17:35918066-35930773

Previous symbols: [ "RAD52B" ]

Links

ENSG00000278023 ∙ NCBI:201299 ∙ OMIM:612896 ∙ HGNC:19950 ∙ Uniprot:Q8NG50 ∙ 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 RDM1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RDM1 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in RDM1

This is a list of pathogenic ClinVar variants found in the RDM1 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-35918369-T-G		not specified	Uncertain significance (Aug 04, 2023)
17-35918397-T-A		not specified	Uncertain significance (Jan 23, 2023)
17-35920198-C-T		not specified	Uncertain significance (Aug 10, 2021)
17-35922583-C-T		not specified	Uncertain significance (Mar 18, 2024)
17-35924739-T-C		not specified	Uncertain significance (Oct 26, 2022)
17-35925568-C-G		not specified	Uncertain significance (May 15, 2024)
17-35930119-T-A		not specified	Uncertain significance (May 10, 2024)
17-35930126-C-G		not specified	Uncertain significance (Nov 15, 2021)
17-35930188-G-A		not specified	Uncertain significance (Sep 27, 2022)
17-35930213-A-C		not specified	Uncertain significance (Sep 17, 2021)
17-35930711-G-A		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May confer resistance to the antitumor agent cisplatin. Binds to DNA and RNA. {ECO:0000269|PubMed:15611051}.

Recessive Scores

• pRec: 0.0882

Intolerance Scores

• loftool: 0.959
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.74

Haploinsufficiency Scores

• pHI: 0.0735
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0476

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rdm1

Gene ontology

• Cellular component: nucleolus;cytosol;Cajal body;PML body
• Molecular function: DNA binding;RNA binding;protein binding