AIP
aryl hydrocarbon receptor interacting protein, the group of FKBP prolyl isomerases|MicroRNA protein coding host genes
Basic information
Region (hg38): 11:67468174-67491154
Links
Phenotypes
GenCC
Source:
- pituitary gigantism (Supportive), mode of inheritance: AD
- familial isolated pituitary adenoma (Supportive), mode of inheritance: AD
- growth hormone secreting pituitary adenoma 1 (Strong), mode of inheritance: AD
- growth hormone secreting pituitary adenoma 1 (Definitive), mode of inheritance: AD
- acromegaly (Supportive), mode of inheritance: Unknown
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Pituitary adenoma 1, multiple types | AD | Endocrine; Oncologic | Surveillance and/or awareness of cancer risk may allow early diagnosis of pituitary tumors (as well as related manifestations, such as hypertension, hypogonadism, diabetes mellitus, and osteoporosis), which could potentially be beneficial to allow early medical (eg, with somatostatin analogs, growth hormone receptor antagonists, dopamine agonists) or surgical treatment; Surveillance post-treatment may also be beneficial to detect recurrence/new adenomas | Endocrine; Oncologic | 7621566; 11158006; 16728643; 17299063; 22319033; 17609395; 17244780; 17360484; 17341560; 18381572; 20570174; 20685857; 19945022; 20506337; 20507346; 21591954; 21753072; 22319033; 22720333; 22612670; 23270713; 23321498; 23674160; 23743763; 24078436 |
| Multiple tumor types have been described |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (778 variants)
- Hereditary_cancer-predisposing_syndrome (762 variants)
- Somatotroph_adenoma (153 variants)
- AIP-related_disorder (24 variants)
- Familial_isolated_pituitary_adenoma (13 variants)
- Pituitary_dependent_hypercortisolism (6 variants)
- not_specified (6 variants)
- Pituitary_adenoma_predisposition (3 variants)
- Acroleukopathy,_symmetric (2 variants)
- Pituitary_adenoma_5,_multiple_types (2 variants)
- Dopamine_agonists_response (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003977.4. 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 | 13 | 290 | 306 | |||
| missense | 540 | 42 | 586 | |||
| nonsense | 26 | 31 | ||||
| start loss | 3 | 1 | 4 | |||
| frameshift | 18 | 11 | 34 | |||
| splice donor/acceptor (+/-2bp) | 9 | |||||
| Total | 44 | 14 | 575 | 332 | 5 |
Highest pathogenic variant AF is 0.0000142651
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AIP | protein_coding | protein_coding | ENST00000279146 | 6 | 8063 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.362 | 0.638 | 125710 | 0 | 12 | 125722 | 0.0000477 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.930 | 173 | 211 | 0.820 | 0.0000140 | 2159 |
| Missense in Polyphen | 53 | 83.81 | 0.63238 | 916 | ||
| Synonymous | -0.173 | 92 | 89.9 | 1.02 | 0.00000631 | 643 |
| Loss of Function | 3.01 | 4 | 17.7 | 0.226 | 9.38e-7 | 174 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000291 | 0.0000291 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.000323 | 0.000323 |
| European (Non-Finnish) | 0.0000359 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May play a positive role in AHR-mediated (aromatic hydrocarbon receptor) signaling, possibly by influencing its receptivity for ligand and/or its nuclear targeting.;
- Disease
- DISEASE: Prolactin-secreting pituitary adenoma (PSPA) [MIM:600634]: Most common type of hormonally active pituitary adenoma. {ECO:0000269|PubMed:16728643, ECO:0000305|PubMed:17244780}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Cushing,s syndrome - Homo sapiens (human);Aryl Hydrocarbon Receptor;Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation;ahr signal transduction pathway;Aryl hydrocarbon receptor signalling;Phase I - Functionalization of compounds;Biological oxidations;Metabolism
(Consensus)
Recessive Scores
- pRec
- 0.133
Intolerance Scores
- loftool
- 0.171
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.77
Haploinsufficiency Scores
- pHI
- 0.511
- hipred
- Y
- hipred_score
- 0.793
- ghis
- 0.522
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.960
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aip
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland 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); growth/size/body region phenotype; embryo phenotype; neoplasm; 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); liver/biliary system phenotype;
Gene ontology
- Biological process
- protein targeting to mitochondrion;xenobiotic metabolic process;regulation of protein kinase A signaling;protein maturation by protein folding;interleukin-12-mediated signaling pathway;negative regulation of cyclic-nucleotide phosphodiesterase activity;positive regulation of nucleic acid-templated transcription
- Cellular component
- nucleoplasm;cytoplasm;cytosol;plasma membrane;aryl hydrocarbon receptor complex
- Molecular function
- transcription coactivator activity;protein binding;transcription factor binding;aryl hydrocarbon receptor binding;GAF domain binding;unfolded protein binding