Menu
GeneBe

RLF

RLF zinc finger, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:40161386-40240921

Links

ENSG00000117000NCBI:6018OMIM:180610HGNC:10025Uniprot:Q13129AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • Inborn genetic diseases (38 variants)
  • not provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RLF gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 3 3
missense 37 1 3 41
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 37 1 6

Variants in RLF

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

Position Type Phenotype Significance ClinVar
1-40161409-G-A Inborn genetic diseases Uncertain significance (Dec 14, 2022)link
1-40161420-C-G Inborn genetic diseases Uncertain significance (Mar 01, 2023)link
1-40161422-C-T Inborn genetic diseases Uncertain significance (Nov 09, 2021)link
1-40161436-G-C Inborn genetic diseases Uncertain significance (Mar 23, 2022)link
1-40161455-C-T Inborn genetic diseases Uncertain significance (May 11, 2022)link
1-40161476-A-G Inborn genetic diseases Uncertain significance (Dec 21, 2022)link
1-40161588-A-C Inborn genetic diseases Uncertain significance (Aug 19, 2021)link
1-40161590-A-T Inborn genetic diseases Uncertain significance (Oct 26, 2022)link
1-40202468-T-A Inborn genetic diseases Uncertain significance (Jul 12, 2023)link
1-40202498-A-G Inborn genetic diseases Uncertain significance (Apr 13, 2023)link
1-40202572-A-G Benign (Apr 04, 2018)link
1-40202583-C-G Benign (Mar 29, 2018)link
1-40231591-G-A Inborn genetic diseases Uncertain significance (Nov 07, 2022)link
1-40231605-A-G Inborn genetic diseases Uncertain significance (Aug 02, 2021)link
1-40231648-T-C Inborn genetic diseases Uncertain significance (Jun 24, 2022)link
1-40235958-T-C Inborn genetic diseases Uncertain significance (Apr 06, 2022)link
1-40236014-C-G Inborn genetic diseases Uncertain significance (Sep 28, 2022)link
1-40236033-A-G Inborn genetic diseases Uncertain significance (Mar 11, 2022)link
1-40236038-C-G Inborn genetic diseases Uncertain significance (Jan 09, 2023)link
1-40236196-A-C Inborn genetic diseases Uncertain significance (Aug 12, 2021)link
1-40236291-A-G Inborn genetic diseases Uncertain significance (Jan 17, 2023)link
1-40236572-T-C Inborn genetic diseases Uncertain significance (Dec 21, 2022)link
1-40236638-C-G Inborn genetic diseases Uncertain significance (Jun 24, 2022)link
1-40236648-G-A Inborn genetic diseases Uncertain significance (Jun 29, 2023)link
1-40237158-A-G Inborn genetic diseases Uncertain significance (Jul 25, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RLFprotein_codingprotein_codingENST00000372771 879549
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.002.28e-12125122011251230.00000400
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.466699730.6880.000047112682
Missense in Polyphen107321.140.333194151
Synonymous-0.2253583531.020.00001673482
Loss of Function7.93073.20.000.000004021024

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006190.0000619
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: May be involved in transcriptional regulation.;

Recessive Scores

pRec
0.113

Intolerance Scores

loftool
0.00696
rvis_EVS
0.08
rvis_percentile_EVS
59.19

Haploinsufficiency Scores

pHI
0.537
hipred
Y
hipred_score
0.725
ghis
0.493

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.941

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rlf
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); growth/size/body region phenotype;

Gene ontology

Biological process
regulation of transcription, DNA-templated;DNA integration;regulation of DNA methylation;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;chromosome organization;histone H3-K4 monomethylation
Cellular component
nucleus
Molecular function
DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;zinc ion binding