RLN1

relaxin 1, the group of Neuropeptides

Basic information

Region (hg38): 9:5334929-5339876

Links

ENSG00000107018 ∙ NCBI:6013 ∙ OMIM:179730 ∙ HGNC:10026 ∙ Uniprot:P04808 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed

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 (6 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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice variant						0
non coding						0
Total	0	0	5	1	1

Variants in RLN1

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

Position	Type	Phenotype	Significance	ClinVar
9-5335283-A-G		Inborn genetic diseases	Uncertain significance (Feb 16, 2023)
9-5335342-T-G		Inborn genetic diseases	Uncertain significance (Apr 22, 2022)
9-5335408-C-T		Inborn genetic diseases	Likely benign (May 09, 2023)
9-5335439-G-C		Inborn genetic diseases	Uncertain significance (May 01, 2022)
9-5335590-T-G			Benign (Feb 13, 2018)
9-5339550-G-A		Inborn genetic diseases	Uncertain significance (Feb 27, 2023)
9-5339580-G-C		Inborn genetic diseases	Uncertain significance (Sep 14, 2022)
9-5339635-C-G		Inborn genetic diseases	Uncertain significance (Feb 16, 2023)
9-5339664-T-A		Inborn genetic diseases	Likely benign (Aug 18, 2021)
9-5339688-G-A		Inborn genetic diseases	Uncertain significance (Dec 07, 2021)
9-5339739-C-A		Inborn genetic diseases	Uncertain significance (Dec 03, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RLN1	protein_coding	protein_coding	ENST00000223862	2	4905

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00652	0.530	107205	0	4	107209	0.0000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.64	146	99.9	1.46	0.00000498	1201
Missense in Polyphen		39	28.229	1.3816		361
Synonymous	-0.844	47	40.2	1.17	0.00000208	356
Loss of Function	0.0104	3	3.02	0.994	1.29e-7	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000859
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000324	0.0000321
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

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