AQP8

aquaporin 8, the group of Aquaporins

Basic information

Region (hg38): 16:25215730-25228932

Links

ENSG00000103375 ∙ NCBI:343 ∙ OMIM:603750 ∙ HGNC:642 ∙ Uniprot:O94778 ∙ 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 AQP8 gene.

• Inborn genetic diseases (11 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP8 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	3	4
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	3

Variants in AQP8

This is a list of pathogenic ClinVar variants found in the AQP8 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-25217214-C-G		not specified	Uncertain significance (Feb 22, 2024)
16-25217245-G-A			Benign (Jun 08, 2018)
16-25217248-C-T			Likely benign (May 23, 2018)
16-25217363-G-A		not specified	Uncertain significance (Sep 20, 2023)
16-25217367-C-T		not specified	Uncertain significance (Aug 02, 2021)
16-25217373-C-T		not specified	Uncertain significance (Jun 02, 2023)
16-25217388-C-T		not specified	Uncertain significance (Feb 28, 2023)
16-25217405-C-A		not specified	Uncertain significance (Dec 27, 2022)
16-25217408-G-A		not specified	Uncertain significance (Jan 30, 2024)
16-25217430-C-T		not specified	Uncertain significance (Aug 02, 2023)
16-25221566-G-A		not specified	Uncertain significance (Jul 13, 2021)
16-25224392-G-T		not specified	Uncertain significance (Mar 29, 2022)
16-25224403-G-A			Benign (May 24, 2018)
16-25224417-T-C		not specified	Uncertain significance (Oct 05, 2023)
16-25224444-C-T		not specified	Uncertain significance (Jul 09, 2021)
16-25224458-A-G		not specified	Uncertain significance (Nov 23, 2022)
16-25224545-G-A		not specified	Uncertain significance (Nov 15, 2021)
16-25224560-G-A		not specified	Uncertain significance (Oct 29, 2021)
16-25227119-G-A			Benign (May 24, 2018)
16-25228444-G-A		not specified	Likely benign (Nov 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP8	protein_coding	protein_coding	ENST00000219660	6	13210

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000367	0.848	125716	0	30	125746	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.567	142	162	0.875	0.0000100	1655
Missense in Polyphen		54	58.127	0.92899		568
Synonymous	0.673	68	75.4	0.901	0.00000524	586
Loss of Function	1.27	7	11.7	0.598	5.87e-7	115

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000394	0.000394
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.000218	0.000217
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Forms a water-specific channel; mercury-sensitive. Not permeable to glycerol or urea.
• Pathway: Bile secretion - Homo sapiens (human);Detoxification of Reactive Oxygen Species;Cellular responses to stress;Transport of small molecules;Pyrimidine metabolism;Cellular responses to external stimuli;Passive transport by Aquaporins;Aquaporin-mediated transport (Consensus)

Recessive Scores

• pRec: 0.136

Intolerance Scores

• loftool: 0.293
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.44

Haploinsufficiency Scores

• pHI: 0.0696
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.362

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Aqp8
• Phenotype: reproductive system phenotype; digestive/alimentary phenotype; renal/urinary system phenotype; endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: water transport;transmembrane transport;cellular response to cAMP
• Cellular component: plasma membrane;integral component of plasma membrane;apical part of cell
• Molecular function: water channel activity