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GeneBe

RLN1

relaxin 1, the group of Neuropeptides

Basic information

Region (hg38): 9:5334929-5339876

Links

ENSG00000107018NCBI:6013OMIM:179730HGNC:10026Uniprot:P04808AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RLN1 gene.

  • Inborn genetic diseases (10 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RLN1 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
1
missense
8
clinvar
2
clinvar
10
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 2 1

Variants in RLN1

This is a list of pathogenic ClinVar variants found in the RLN1 region.

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

Position Type Phenotype Significance ClinVar
9-5335283-A-G not specified Uncertain significance (Feb 16, 2023)2486008
9-5335342-T-G not specified Uncertain significance (Apr 22, 2022)2360732
9-5335346-T-C not specified Uncertain significance (Feb 28, 2024)3154754
9-5335393-T-C not specified Uncertain significance (Jan 30, 2024)3154753
9-5335408-C-T not specified Likely benign (May 09, 2023)2511798
9-5335439-G-C not specified Uncertain significance (May 01, 2022)2375309
9-5335554-A-C not specified Uncertain significance (Apr 14, 2022)3154751
9-5335590-T-G Benign (Feb 13, 2018)718077
9-5339550-G-A not specified Uncertain significance (Feb 27, 2023)2489920
9-5339580-G-C not specified Uncertain significance (Sep 14, 2022)2312182
9-5339635-C-G not specified Uncertain significance (Feb 16, 2023)2486375
9-5339656-C-T not specified Uncertain significance (Dec 12, 2023)3154758
9-5339664-T-A not specified Likely benign (Aug 18, 2021)2363928
9-5339670-T-G not specified Uncertain significance (Aug 18, 2021)3154757
9-5339673-G-T not specified Uncertain significance (Aug 18, 2021)3154756
9-5339688-G-A not specified Uncertain significance (Dec 07, 2021)2338654
9-5339689-A-G not specified Likely benign (Jan 03, 2024)3154755
9-5339712-A-G not specified Uncertain significance (Feb 28, 2024)3154752
9-5339739-C-A not specified Uncertain significance (Dec 03, 2021)2276357

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RLN1protein_codingprotein_codingENST00000223862 24905
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.006520.530107205041072090.0000187
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-1.6414699.91.460.000004981201
Missense in Polyphen3928.2291.3816361
Synonymous-0.8444740.21.170.00000208356
Loss of Function0.010433.020.9941.29e-734

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00008700.0000859
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003240.0000321
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Relaxin is an ovarian hormone that acts with estrogen to produce dilatation of the birth canal in many mammals. May be involved in remodeling of connective tissues during pregnancy, promoting growth of pubic ligaments and ripening of the cervix.;
Pathway
Relaxin signaling pathway - Homo sapiens (human);Androgen receptor signaling pathway;Myometrial Relaxation and Contraction Pathways;Cellular response to heat stress;Signaling by GPCR;Signal Transduction;HSF1 activation;Attenuation phase;HSF1-dependent transactivation;Regulation of HSF1-mediated heat shock response;Cellular responses to stress;G alpha (s) signalling events;Relaxin receptors;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Cellular responses to external stimuli;Cellular response to heat stress;GPCR downstream signalling (Consensus)

Intolerance Scores

loftool
0.541
rvis_EVS
-0.09
rvis_percentile_EVS
46.74

Haploinsufficiency Scores

pHI
0.164
hipred
N
hipred_score
0.112
ghis
0.412

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.129

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rln1
Phenotype
endocrine/exocrine gland phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; reproductive 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype;

Gene ontology

Biological process
signal transduction;female pregnancy;regulation of signaling receptor activity
Cellular component
extracellular region
Molecular function
hormone activity