AQP11

aquaporin 11, the group of Aquaporins

Basic information

Region (hg38): 11:77589391-77610356

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.

not_specified (36 variants)
not_provided (5 variants)
EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 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. These statistics are base on transcript: NM_000173039.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			35 clinvar	5 clinvar		40
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	6	0

Loading clinvar variants...

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