RAD21L1

RAD21 cohesin complex component like 1, the group of Kleisins

Basic information

Region (hg38): 20:1226044-1296421

Links

ENSG00000244588NCBI:642636OMIM:619533HGNC:16271Uniprot:Q9H4I0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAD21L1 gene.

  • not_specified (58 variants)
  • not_provided (3 variants)
  • Non-obstructive_azoospermia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAD21L1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001384355.1. 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
0
missense
54
clinvar
4
clinvar
1
clinvar
59
nonsense
1
clinvar
1
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 1 0 56 4 1

Highest pathogenic variant AF is 0.00000143042

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RAD21L1protein_codingprotein_codingENST00000409241 1370366
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000004530.99200000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.391772370.7470.00001093707
Missense in Polyphen4372.1450.596021143
Synonymous1.765877.80.7460.00000351963
Loss of Function2.361326.00.5000.00000148380

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Meiosis-specific component of some cohesin complex required during the initial steps of prophase I in male meiosis. Probably required during early meiosis in males for separation of sister chromatids and homologous chromosomes. Replaces RAD21 in premeiotic S phase (during early stages of prophase I), while RAD21 reappears in later stages of prophase I. Involved in synaptonemal complex assembly, synapsis initiation and crossover recombination between homologous chromosomes during prophase I (By similarity). {ECO:0000250}.;

Intolerance Scores

loftool
rvis_EVS
0.77
rvis_percentile_EVS
86.95

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0837

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyHighMediumHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Rad21l
Phenotype
cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; reproductive system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process
double-strand break repair via homologous recombination;double-strand break repair;sister chromatid cohesion;synaptonemal complex assembly;spermatogenesis;fertilization;meiotic cell cycle;meiotic attachment of telomere to nuclear envelope;seminiferous tubule development
Cellular component
lateral element;nucleus;chromosome;meiotic cohesin complex;nuclear meiotic cohesin complex
Molecular function
chromatin binding