AQP9
Basic information
Region (hg38): 15:58138169-58185911
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (42 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020980.5. 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 | 1 | |||||
| missense | 41 | 42 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 41 | 2 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AQP9 | protein_coding | protein_coding | ENST00000219919 | 6 | 47743 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.240 | 0.754 | 125729 | 0 | 16 | 125745 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -1.21 | 210 | 166 | 1.26 | 0.00000848 | 1898 |
| Missense in Polyphen | 87 | 67.475 | 1.2894 | 775 | ||
| Synonymous | -1.26 | 75 | 62.4 | 1.20 | 0.00000346 | 618 |
| Loss of Function | 2.36 | 3 | 11.7 | 0.256 | 6.27e-7 | 137 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000905 | 0.0000904 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.000139 | 0.000139 |
| European (Non-Finnish) | 0.0000705 | 0.0000703 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.0000654 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Forms a channel with a broad specificity. Mediates passage of a wide variety of non-charged solutes including carbamides, polyols, purines, and pyrimidines in a phloretin- and mercury-sensitive manner, whereas amino acids, cyclic sugars, Na(+), K(+), Cl(-), and deprotonated monocarboxylates are excluded. Also permeable to urea and glycerol. {ECO:0000269|PubMed:10564231}.;
- Pathway
- Bile secretion - Homo sapiens (human);Preimplantation Embryo;Transport of small molecules;Passive transport by Aquaporins;Aquaporin-mediated transport;Transport of glycerol from adipocytes to the liver by Aquaporins
(Consensus)
Recessive Scores
- pRec
- 0.117
Intolerance Scores
- loftool
- 0.184
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 37.32
Haploinsufficiency Scores
- pHI
- 0.791
- hipred
- Y
- hipred_score
- 0.652
- ghis
- 0.544
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.127
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aqp9
- Phenotype
- hematopoietic system phenotype; immune system phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- water transport;purine nucleobase transport;immune response;response to osmotic stress;excretion;response to organic substance;canalicular bile acid transport;polyol transport;glycerol transport;amine transport;pyrimidine nucleobase transport;water homeostasis;response to mercury ion;carboxylic acid transport;cellular response to cAMP;urea transmembrane transport;pyrimidine-containing compound transmembrane transport;purine nucleobase transmembrane transport;carboxylic acid transmembrane transport
- Cellular component
- plasma membrane;integral component of plasma membrane;integral component of membrane;basolateral plasma membrane;intracellular membrane-bounded organelle
- Molecular function
- amine transmembrane transporter activity;purine nucleobase transmembrane transporter activity;pyrimidine nucleobase transmembrane transporter activity;water transmembrane transporter activity;polyol transmembrane transporter activity;urea transmembrane transporter activity;water channel activity;glycerol channel activity;urea channel activity;porin activity;carboxylic acid transmembrane transporter activity