AQP7

aquaporin 7, the group of Aquaporins

Basic information

Region (hg38): 9:33383179-33402682

Previous symbols: [ "AQP7L" ]

Links

ENSG00000165269 ∙ NCBI:364 ∙ OMIM:602974 ∙ HGNC:640 ∙ Uniprot:O14520 ∙ 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 AQP7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AQP7 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					5	5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)					1	1
splice region						0
non coding						0
Total	0	0	0	0	6

Variants in AQP7

This is a list of pathogenic ClinVar variants found in the AQP7 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-33385243-C-A		GLYCEROL QUANTITATIVE TRAIT LOCUS	Affects (Jan 01, 2013)
9-33385692-G-T		not specified	Benign (Mar 28, 2016)
9-33385742-A-T		not specified	Benign (Mar 28, 2016)
9-33385752-C-T		not specified	Benign (Mar 28, 2016)
9-33385773-C-T		not specified	Benign (Mar 28, 2016)
9-33385810-G-T		Hepatocellular carcinoma	Pathogenic (Jun 15, 2021)
9-33386402-A-G		not specified	Benign (Mar 28, 2016)
9-33386467-A-G		not specified	Benign (Mar 28, 2016)
9-33395121-A-T		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AQP7	protein_coding	protein_coding	ENST00000297988	7	17879

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.05e-16	0.000431	125403	0	345	125748	0.00137

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.202	193	201	0.960	0.0000120	2127
Missense in Polyphen		67	71.226	0.94067		772
Synonymous	-0.114	85	83.7	1.02	0.00000536	710
Loss of Function	-2.13	19	11.3	1.68	5.63e-7	119

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00158	0.00158
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000217	0.000217
Finnish	0.000370	0.000370
European (Non-Finnish)	0.00218	0.00217
Middle Eastern	0.000217	0.000217
South Asian	0.00131	0.00131
Other	0.00131	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Forms a channel for water and glycerol.
• Pathway: Regulation of lipolysis in adipocytes - Homo sapiens (human);PPAR signaling pathway - Homo sapiens (human);PPAR signaling pathway;Transport of small molecules;Passive transport by Aquaporins;Aquaporin-mediated transport;Transport of glycerol from adipocytes to the liver by Aquaporins (Consensus)

Recessive Scores

• pRec: 0.132

Intolerance Scores

• loftool: 0.227
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.91

Haploinsufficiency Scores

• pHI: 0.0624
• hipred: N
• hipred_score: 0.146
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0381

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Aqp7
• Phenotype: renal/urinary system phenotype; growth/size/body region phenotype; reproductive system phenotype; homeostasis/metabolism phenotype; cellular phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Gene ontology

• Biological process: generation of precursor metabolites and energy;water transport;excretion;glycerol transport;transmembrane transport
• Cellular component: cytoplasm;plasma membrane;integral component of plasma membrane;cell-cell junction
• Molecular function: urea transmembrane transporter activity;water channel activity;glycerol channel activity