AQP9

aquaporin 9, the group of Aquaporins

Basic information

Region (hg38): 15:58138168-58185911

Links

ENSG00000103569 ∙ NCBI:366 ∙ OMIM:602914 ∙ HGNC:643 ∙ Uniprot:O43315 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AQP9 gene.

• Inborn genetic diseases (13 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.

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				1		1
missense			12	1		13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	2	0

Variants in AQP9

This is a list of pathogenic ClinVar variants found in the AQP9 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
15-58138642-C-A		not specified	Uncertain significance (Nov 18, 2022)
15-58166719-G-A		not specified	Likely benign (Sep 15, 2021)
15-58166775-A-G		not specified	Uncertain significance (Dec 08, 2023)
15-58166790-G-T		not specified	Uncertain significance (Oct 12, 2021)
15-58173125-G-T		not specified	Uncertain significance (Nov 29, 2023)
15-58173186-C-T			Likely benign (Sep 01, 2022)
15-58173187-G-A		not specified	Uncertain significance (Dec 06, 2021)
15-58174956-G-A		not specified	Uncertain significance (May 06, 2022)
15-58174996-C-G		not specified	Uncertain significance (Nov 17, 2022)
15-58174998-G-A		not specified	Uncertain significance (Apr 25, 2022)
15-58175017-C-T		not specified	Uncertain significance (Mar 25, 2022)
15-58179187-G-T		not specified	Uncertain significance (Oct 10, 2023)
15-58179219-T-C		not specified	Uncertain significance (Feb 13, 2023)
15-58179219-T-G		not specified	Uncertain significance (Jul 19, 2023)
15-58179236-G-A		not specified	Uncertain significance (Jan 26, 2022)
15-58179258-T-G		not specified	Uncertain significance (Sep 06, 2023)
15-58184011-C-T		not specified	Uncertain significance (Jun 28, 2022)
15-58184076-T-C		not specified	Uncertain significance (Mar 31, 2023)
15-58184118-C-T		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

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: dbNSFP

• 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