AQP6

aquaporin 6, the group of Aquaporins

Basic information

Region (hg38): 12:49967194-49977139

Previous symbols: [ "AQP2L" ]

Links

ENSG00000086159 ∙ NCBI:363 ∙ OMIM:601383 ∙ HGNC:639 ∙ Uniprot:Q13520 ∙ 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 AQP6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP6 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	2
missense			18	1	1	20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	18	1	3

Variants in AQP6

This is a list of pathogenic ClinVar variants found in the AQP6 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-49973220-C-T		not specified	Likely benign (Jun 28, 2022)
12-49973221-G-A			Benign (Apr 05, 2018)
12-49973230-T-C			Benign (May 15, 2018)
12-49973280-T-C		not specified	Uncertain significance (Jan 04, 2024)
12-49973288-T-C		not specified	Uncertain significance (Feb 23, 2023)
12-49973300-G-T		not specified	Uncertain significance (Oct 10, 2023)
12-49973324-G-A		not specified	Uncertain significance (Dec 20, 2022)
12-49973336-G-A		not specified	Uncertain significance (Aug 10, 2021)
12-49973391-C-T		not specified	Uncertain significance (Dec 30, 2023)
12-49973423-G-A		not specified	Uncertain significance (Mar 06, 2023)
12-49973426-G-A		not specified	Uncertain significance (Jun 06, 2023)
12-49973444-G-A		not specified	Uncertain significance (Feb 21, 2024)
12-49973502-G-A		not specified	Uncertain significance (Nov 18, 2022)
12-49973553-G-A		not specified	Uncertain significance (Aug 28, 2021)
12-49974352-C-T		not specified	Uncertain significance (Apr 01, 2024)
12-49974400-T-C		not specified	Uncertain significance (May 17, 2023)
12-49974417-C-G			Benign (Apr 05, 2018)
12-49974418-G-A		not specified	Uncertain significance (Oct 21, 2021)
12-49974466-T-A		not specified	Uncertain significance (May 30, 2024)
12-49974478-T-C		not specified	Uncertain significance (Apr 17, 2024)
12-49974487-G-A			Benign (Aug 02, 2017)
12-49975507-C-G		not specified	Uncertain significance (Apr 17, 2024)
12-49975534-G-A		not specified	Uncertain significance (Dec 28, 2022)
12-49975555-C-T		not specified	Uncertain significance (Apr 25, 2022)
12-49975579-G-A		not specified	Uncertain significance (Aug 13, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP6	protein_coding	protein_coding	ENST00000315520	4	9946

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0159	0.891	125690	0	57	125747	0.000227

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.550	155	176	0.883	0.0000108	1756
Missense in Polyphen		47	67.587	0.6954		710
Synonymous	-0.192	83	80.8	1.03	0.00000544	655
Loss of Function	1.41	4	8.42	0.475	4.40e-7	84

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000349	0.000343
Ashkenazi Jewish	0.00	0.00
East Asian	0.000384	0.000381
Finnish	0.0000469	0.0000462
European (Non-Finnish)	0.0000908	0.0000879
Middle Eastern	0.000384	0.000381
South Asian	0.00101	0.000915
Other	0.000181	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Forms a water-specific channel that participates in distinct physiological functions such as glomerular filtration, tubular endocytosis and acid-base metabolism. {ECO:0000250}.
• Pathway: Transport of small molecules;Passive transport by Aquaporins;Aquaporin-mediated transport (Consensus)

Recessive Scores

• pRec: 0.140

Intolerance Scores

• loftool: 0.128
• rvis_EVS: 0.42
• rvis_percentile_EVS: 77.06

Haploinsufficiency Scores

• pHI: 0.0735
• hipred: N
• hipred_score: 0.224
• ghis: 0.422

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: Aqp6
• Phenotype: vision/eye phenotype; renal/urinary system phenotype

Gene ontology

• Biological process: water transport;excretion;nitrate transport;odontogenesis;transmembrane transport
• Cellular component: plasma membrane;integral component of plasma membrane;integral component of membrane;apical plasma membrane;cytoplasmic vesicle membrane
• Molecular function: nitrate transmembrane transporter activity;water channel activity