RLN1
relaxin 1, the group of Neuropeptides
Basic information
Region (hg38): 9:5334929-5339876
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- 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:
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:
- 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