GeneBe

RAD54B

RAD54 homolog B

Basic information

Region (hg38): 8:94371960-94475115

Links

ENSG00000197275 ∙ NCBI:25788 ∙ OMIM:604289 ∙ HGNC:17228 ∙ Uniprot:Q9Y620 ∙ 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 RAD54B gene.

  • not_specified (89 variants)
  • not_provided (10 variants)
  • Carcinoma_of_colon (1 variants)
  • Non-Hodgkin_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAD54B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012415.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
2
clinvar
 3
missense
1
clinvar
84
clinvar
7
clinvar
2
clinvar
 94
nonsense
0
start loss
0
frameshift
1
clinvar
1
clinvar
 2
splice donor/acceptor (+/-2bp)
0
Total 1 1 84 9 4

Highest pathogenic variant AF is 0.0000378212

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAD54Bprotein_codingprotein_codingENST00000336148 14103150
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
8.12e-130.96412562021231257450.000497
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9254024580.8780.00002155997
Missense in Polyphen128160.150.799272123
Synonymous0.6821471580.9310.000007671687
Loss of Function2.272641.90.6210.00000217553

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001280.00128
Ashkenazi Jewish0.0001020.0000992
East Asian0.0006110.000598
Finnish0.000.00
European (Non-Finnish)0.0003290.000325
Middle Eastern0.0006110.000598
South Asian0.001310.00121
Other0.0003280.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group. {ECO:0000269|PubMed:11782437, ECO:0000269|PubMed:11884632}.;
Pathway
Homologous recombination - Homo sapiens (human);Homologous recombination (Consensus)

Recessive Scores

pRec
0.144

Intolerance Scores

loftool
0.198
rvis_EVS
0.4
rvis_percentile_EVS
76.45

Haploinsufficiency Scores

pHI
0.486
hipred
Y
hipred_score
0.610
ghis
0.573

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.742

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rad54b
Phenotype
homeostasis/metabolism phenotype; cellular phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
double-strand break repair via homologous recombination;mitotic recombination;reciprocal meiotic recombination;DNA duplex unwinding
Cellular component
nucleus
Molecular function
DNA binding;DNA helicase activity;RNA helicase activity;protein binding;ATP binding;DNA translocase activity