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:Q13129AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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 (54 variants)
  • not provided (7 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.

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
1
clinvar
3
clinvar
4
missense
53
clinvar
1
clinvar
3
clinvar
57
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 53 2 6

Variants in RLF

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

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

Position Type Phenotype Significance ClinVar
1-40161409-G-A not specified Uncertain significance (Dec 14, 2022)2256970
1-40161412-A-G not specified Uncertain significance (Aug 08, 2022)3154724
1-40161420-C-G not specified Uncertain significance (Mar 01, 2023)2461102
1-40161422-C-T not specified Uncertain significance (Nov 09, 2021)2216268
1-40161427-G-A not specified Uncertain significance (Oct 05, 2023)3154727
1-40161436-G-C not specified Uncertain significance (Mar 23, 2022)2228409
1-40161455-C-T not specified Uncertain significance (May 11, 2022)2357348
1-40161476-A-G not specified Uncertain significance (Dec 21, 2022)2337903
1-40161488-C-T not specified Uncertain significance (Sep 29, 2023)3154746
1-40161588-A-C not specified Uncertain significance (Aug 19, 2021)2340305
1-40161590-A-T not specified Uncertain significance (Oct 26, 2022)2378089
1-40202468-T-A not specified Uncertain significance (Jul 12, 2023)2610869
1-40202498-A-G not specified Uncertain significance (Apr 13, 2023)2536984
1-40202572-A-G Benign (Apr 04, 2018)726801
1-40202583-C-G Benign (Mar 29, 2018)771304
1-40231591-G-A not specified Uncertain significance (Nov 07, 2022)2323444
1-40231605-A-G not specified Uncertain significance (Aug 02, 2021)2240125
1-40231648-T-C not specified Uncertain significance (Jun 24, 2022)2241238
1-40235958-T-C not specified Uncertain significance (Apr 06, 2022)2281245
1-40236014-C-G not specified Uncertain significance (Sep 28, 2022)2389191
1-40236033-A-G not specified Uncertain significance (Mar 11, 2022)2278117
1-40236038-C-G not specified Uncertain significance (Jan 09, 2023)2474552
1-40236196-A-C not specified Uncertain significance (Aug 12, 2021)2243752
1-40236291-A-G not specified Uncertain significance (Jan 17, 2023)2476177
1-40236572-T-C not specified Uncertain significance (Dec 21, 2022)2339063

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