NR6A1
Basic information
Region (hg38): 9:124517274-124771311
Previous symbols: [ "GCNF" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NR6A1 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 | 2 | |||||
missense | 28 | 30 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 28 | 1 | 3 |
Variants in NR6A1
This is a list of pathogenic ClinVar variants found in the NR6A1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
9-124522721-C-T | Benign (Aug 17, 2018) | |||
9-124524758-A-T | not specified | Uncertain significance (Sep 22, 2023) | ||
9-124524793-A-G | not specified | Uncertain significance (Jan 04, 2022) | ||
9-124524806-C-T | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
9-124526882-C-T | not specified | Uncertain significance (Nov 27, 2023) | ||
9-124526885-C-G | Benign (Jun 04, 2018) | |||
9-124526890-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
9-124526900-T-G | not specified | Uncertain significance (Oct 19, 2021) | ||
9-124535894-C-T | not specified | Uncertain significance (Jun 07, 2023) | ||
9-124536026-G-C | not specified | Uncertain significance (Mar 29, 2023) | ||
9-124536074-G-A | not specified | Uncertain significance (Jul 20, 2021) | ||
9-124536084-G-A | Benign (Mar 29, 2018) | |||
9-124536128-C-T | not specified | Uncertain significance (Jun 24, 2022) | ||
9-124538101-A-G | not specified | Uncertain significance (Jun 16, 2023) | ||
9-124538158-A-T | not specified | Uncertain significance (Aug 16, 2022) | ||
9-124538198-G-A | not specified | Uncertain significance (Jun 30, 2022) | ||
9-124538201-G-T | not specified | Uncertain significance (Aug 15, 2023) | ||
9-124538246-G-T | not specified | Uncertain significance (Dec 21, 2023) | ||
9-124538252-G-A | not specified | Uncertain significance (Mar 05, 2024) | ||
9-124538277-C-A | not specified | Uncertain significance (Dec 15, 2022) | ||
9-124538291-C-T | not specified | Uncertain significance (Dec 22, 2023) | ||
9-124554357-T-C | not specified | Uncertain significance (Apr 28, 2023) | ||
9-124554420-C-T | not specified | Uncertain significance (May 30, 2024) | ||
9-124554471-T-C | Uncertain significance (Jul 01, 2022) | |||
9-124554516-C-T | not specified | Uncertain significance (Nov 01, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NR6A1 | protein_coding | protein_coding | ENST00000487099 | 10 | 254036 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.982 | 0.0183 | 125734 | 0 | 12 | 125746 | 0.0000477 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.83 | 176 | 259 | 0.681 | 0.0000149 | 3143 |
Missense in Polyphen | 46 | 109.37 | 0.42058 | 1201 | ||
Synonymous | -0.456 | 109 | 103 | 1.06 | 0.00000603 | 911 |
Loss of Function | 4.12 | 3 | 25.4 | 0.118 | 0.00000141 | 284 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000615 | 0.0000615 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000883 | 0.0000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Orphan nuclear receptor. Binds to a response element containing the sequence 5'-TCAAGGTCA-3'. May be involved in the regulation of gene expression in germ cell development during gametogenesis (By similarity). {ECO:0000250}.;
- Pathway
- NHR;Gene expression (Transcription);Generic Transcription Pathway;Nuclear Receptor transcription pathway;RNA Polymerase II Transcription
(Consensus)
Recessive Scores
- pRec
- 0.196
Intolerance Scores
- loftool
- 0.0544
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 27.69
Haploinsufficiency Scores
- pHI
- 0.864
- hipred
- Y
- hipred_score
- 0.806
- ghis
- 0.581
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.999
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nr6a1
- Phenotype
- craniofacial phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); limbs/digits/tail phenotype; digestive/alimentary phenotype; vision/eye phenotype; skeleton phenotype; embryo 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); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;transcription initiation from RNA polymerase II promoter;gamete generation;spermatogenesis;cell population proliferation;intracellular receptor signaling pathway;steroid hormone mediated signaling pathway;positive regulation of transcription by RNA polymerase II
- Cellular component
- nucleus;nucleoplasm;transcription factor complex
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;steroid hormone receptor activity;nuclear receptor activity;zinc ion binding;protein homodimerization activity;sequence-specific DNA binding