AQP11

aquaporin 11, the group of Aquaporins

Basic information

Region (hg38): 11:77589390-77610356

Links

ENSG00000178301 ∙ NCBI:282679 ∙ OMIM:609914 ∙ HGNC:19940 ∙ Uniprot:Q8NBQ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• polycystic kidney disease (No Known Disease Relationship), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AQP11 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 AQP11 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			13	2		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	2	0

Variants in AQP11

This is a list of pathogenic ClinVar variants found in the AQP11 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-77590014-C-G		not specified	Uncertain significance (Oct 27, 2022)
11-77590015-G-C		not specified	Uncertain significance (Nov 09, 2021)
11-77590055-G-T		not specified	Uncertain significance (May 09, 2023)
11-77590113-A-G		not specified	Uncertain significance (Dec 20, 2021)
11-77590254-G-T		not specified	Uncertain significance (Mar 31, 2023)
11-77590291-C-T		not specified	Uncertain significance (Sep 27, 2022)
11-77590377-C-A		not specified	Uncertain significance (Nov 27, 2023)
11-77590426-A-C			Likely benign (Jan 01, 2023)
11-77590427-G-T			Likely benign (Jan 01, 2023)
11-77590448-C-A		not specified	Uncertain significance (May 24, 2023)
11-77590464-C-G		not specified	Uncertain significance (May 10, 2023)
11-77590464-C-T			Uncertain significance (Nov 26, 2018)
11-77590506-G-A		not specified	Likely benign (Feb 05, 2024)
11-77590530-G-A		not specified	Uncertain significance (Aug 10, 2023)
11-77590548-G-A		not specified	Uncertain significance (Dec 21, 2022)
11-77590596-T-C		not specified	Uncertain significance (Jan 04, 2024)
11-77590605-T-C		not specified	Uncertain significance (Nov 05, 2021)
11-77609341-G-T			Uncertain significance (Nov 26, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP11	protein_coding	protein_coding	ENST00000313578	3	20965

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000530	0.711	125682	0	66	125748	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.616	127	148	0.858	0.00000653	1745
Missense in Polyphen		47	54.32	0.86525		670
Synonymous	-0.120	67	65.8	1.02	0.00000303	569
Loss of Function	0.862	6	8.75	0.686	3.82e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000951	0.0000951
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000552	0.0000544
Finnish	0.0000473	0.0000462
European (Non-Finnish)	0.000365	0.000360
Middle Eastern	0.0000552	0.0000544
South Asian	0.000665	0.000621
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Aquaporins facilitate the transport of water and small neutral solutes across cell membranes. {ECO:0000250}.
• Pathway: Transport of small molecules;Passive transport by Aquaporins;Aquaporin-mediated transport (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.548
• rvis_EVS: 0.51
• rvis_percentile_EVS: 80.01

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.330
• ghis: 0.407

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00862

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aqp11
• Phenotype: renal/urinary system phenotype; immune system phenotype; liver/biliary system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); growth/size/body region phenotype; hematopoietic system phenotype; cellular phenotype; homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: aqp11
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: curved ventral

Gene ontology

• Biological process: ion transport;water transport;glycerol transport;urea transport;endosomal lumen acidification;protein homooligomerization;transmembrane transport;proximal tubule development
• Cellular component: cytoplasm;endoplasmic reticulum;cytosol;cell surface;integral component of membrane;dendrite
• Molecular function: molecular_function;channel activity