AQP10

aquaporin 10, the group of Aquaporins

Basic information

Region (hg38): 1:154321090-154325325

Links

ENSG00000143595 ∙ NCBI:89872 ∙ OMIM:606578 ∙ HGNC:16029 ∙ Uniprot:Q96PS8 ∙ 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 AQP10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP10 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						0
missense			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	14	1	1

Variants in AQP10

This is a list of pathogenic ClinVar variants found in the AQP10 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-154321175-C-T		not specified	Likely benign (Nov 16, 2021)
1-154321205-G-A		not specified	Uncertain significance (Jan 31, 2024)
1-154321270-A-G			Benign (Dec 14, 2017)
1-154321948-G-C		not specified	Uncertain significance (Apr 06, 2024)
1-154321966-A-G		not specified	Uncertain significance (Dec 02, 2022)
1-154322045-G-A		not specified	Uncertain significance (Aug 05, 2024)
1-154323012-C-T		not specified	Uncertain significance (Jun 10, 2024)
1-154323255-T-A		not specified	Uncertain significance (Mar 31, 2023)
1-154323304-T-C		not specified	Uncertain significance (Dec 03, 2024)
1-154323318-C-T		not specified	Uncertain significance (Oct 20, 2024)
1-154323611-T-C		not specified	Uncertain significance (Nov 21, 2024)
1-154323641-G-A		not specified	Uncertain significance (Nov 03, 2023)
1-154323727-G-A		not specified	Uncertain significance (Jul 25, 2023)
1-154323741-C-A		not specified	Uncertain significance (Feb 22, 2023)
1-154323754-C-G		not specified	Uncertain significance (Nov 11, 2024)
1-154324461-T-C		not specified	Uncertain significance (Apr 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP10	protein_coding	protein_coding	ENST00000324978	6	4236

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00133	0.873	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.33	122	171	0.714	0.00000938	1894
Missense in Polyphen		36	63.579	0.56622		748
Synonymous	0.378	68	72.1	0.943	0.00000403	691
Loss of Function	1.33	6	10.7	0.562	4.57e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000331	0.000330
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000109	0.000109
South Asian	0.0000653	0.0000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Water channel required to promote glycerol permeability and water transport across cell membranes. May contribute to water transport in the upper portion of small intestine. Isoform 2 is not permeable to urea and glycerol. {ECO:0000269|PubMed:11573934, ECO:0000269|PubMed:12084581}.
• Pathway: Transport of small molecules;Passive transport by Aquaporins;Aquaporin-mediated transport (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.441
• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.49

Haploinsufficiency Scores

• pHI: 0.108
• hipred: N
• hipred_score: 0.273
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.196

Gene Damage Prediction

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

Gene ontology

• Biological process: water transport;response to toxic substance;glycerol transport;urea transmembrane transport
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: urea transmembrane transporter activity;water channel activity;glycerol channel activity;urea channel activity