ADIPOR1
Basic information
Region (hg38): 1:202940826-202958572
Links
Phenotypes
GenCC
Source:
- retinitis pigmentosa (Limited), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (169 variants)
- Retinal_dystrophy (7 variants)
- not_specified (7 variants)
- ADIPOR1-related_disorder (1 variants)
- Retinitis_pigmentosa (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADIPOR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000015999.6. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 50 | 58 | ||||
missense | 76 | 78 | ||||
nonsense | 0 | |||||
start loss | 1 | 1 | ||||
frameshift | 4 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 1 | 0 | 86 | 51 | 3 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ADIPOR1 | protein_coding | protein_coding | ENST00000340990 | 7 | 17750 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.658 | 0.341 | 125741 | 0 | 6 | 125747 | 0.0000239 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.82 | 105 | 224 | 0.469 | 0.0000126 | 2453 |
Missense in Polyphen | 21 | 56.465 | 0.37191 | 724 | ||
Synonymous | 0.0802 | 82 | 82.9 | 0.989 | 0.00000463 | 756 |
Loss of Function | 3.08 | 3 | 16.5 | 0.181 | 7.67e-7 | 191 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000289 | 0.0000289 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000356 | 0.0000352 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for ADIPOQ, an essential hormone secreted by adipocytes that regulates glucose and lipid metabolism (PubMed:25855295, PubMed:12802337). Required for normal glucose and fat homeostasis and for maintaining a normal body weight. ADIPOQ-binding activates a signaling cascade that leads to increased AMPK activity, and ultimately to increased fatty acid oxidation, increased glucose uptake and decreased gluconeogenesis. Has high affinity for globular adiponectin and low affinity for full-length adiponectin (By similarity). {ECO:0000250|UniProtKB:Q91VH1, ECO:0000269|PubMed:12802337, ECO:0000269|PubMed:25855295}.;
- Pathway
- Adipocytokine signaling pathway - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AMPK signaling pathway - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);AMP-activated Protein Kinase (AMPK) Signaling;Leptin and adiponectin;AMPK inhibits chREBP transcriptional activation activity;Metabolism;Integration of energy metabolism
(Consensus)
Recessive Scores
- pRec
- 0.265
Intolerance Scores
- loftool
- 0.223
- rvis_EVS
- -0.3
- rvis_percentile_EVS
- 32.62
Haploinsufficiency Scores
- pHI
- 0.329
- hipred
- Y
- hipred_score
- 0.825
- ghis
- 0.593
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- K
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.303
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Low | Medium |
Primary Immunodeficiency | Medium | Low | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adipor1
- Phenotype
- vision/eye phenotype; liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); muscle phenotype; homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- adipor1b
- Affected structure
- retinal rod cell
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- hormone-mediated signaling pathway;negative regulation of epithelial cell migration;negative regulation of epithelial to mesenchymal transition;regulation of glucose metabolic process;regulation of lipid metabolic process;fatty acid oxidation;negative regulation of cell growth;leptin-mediated signaling pathway;adiponectin-activated signaling pathway;regulation of fatty acid biosynthetic process;glucose homeostasis;negative regulation of JAK-STAT cascade;positive regulation of JAK-STAT cascade;positive regulation of insulin receptor signaling pathway;positive regulation of cold-induced thermogenesis;negative regulation of NIK/NF-kappaB signaling
- Cellular component
- plasma membrane;membrane;integral component of membrane;intrinsic component of plasma membrane
- Molecular function
- protein kinase binding;signaling receptor activity;identical protein binding;metal ion binding;protein heterodimerization activity;adiponectin binding;adipokinetic hormone receptor activity