ANO7

anoctamin 7, the group of Anoctamins

Basic information

Region (hg38): 2:241188508-241225976

Previous symbols: [ "PCANAP5", "TMEM16G" ]

Links

ENSG00000146205 ∙ NCBI:50636 ∙ OMIM:605096 ∙ HGNC:31677 ∙ Uniprot:Q6IWH7 ∙ 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 ANO7 gene.

• not provided (90 variants)
• Inborn genetic diseases (65 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANO7 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				7	10	17
missense			62	6	10	78
nonsense						0
start loss						0
frameshift				1	1	2
inframe indel						0
splice donor/acceptor (+/-2bp)				1		1
splice region					3	3
non coding					53	53
Total	0	0	62	15	74

Variants in ANO7

This is a list of pathogenic ClinVar variants found in the ANO7 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-241188675-G-A		not specified	Uncertain significance (Feb 27, 2024)
2-241188699-C-T			Benign (Dec 31, 2019)
2-241188700-G-A		not specified	Likely benign (Apr 25, 2022)
2-241188714-G-A		not specified	Uncertain significance (Sep 06, 2022)
2-241188738-G-A		not specified	Uncertain significance (Dec 21, 2023)
2-241189001-G-A			Benign (Nov 11, 2018)
2-241189032-G-A			Benign (Jun 18, 2021)
2-241189851-C-T			Benign (Nov 10, 2018)
2-241190030-A-G			Benign (Jun 18, 2021)
2-241190072-G-T			Benign (Nov 10, 2018)
2-241190100-G-A			Benign (Nov 10, 2018)
2-241190138-G-C			Likely benign (Dec 31, 2019)
2-241190148-G-A		not specified	Uncertain significance (Aug 10, 2021)
2-241190168-G-A			Benign (Dec 31, 2019)
2-241190169-G-A		not specified	Uncertain significance (May 30, 2023)
2-241190354-T-G			Benign (Jun 18, 2021)
2-241190416-A-G			Benign (Nov 10, 2018)
2-241191204-A-C		not specified	Uncertain significance (Dec 26, 2023)
2-241191209-G-A		not specified	Uncertain significance (Dec 14, 2021)
2-241191216-C-T		not specified	Uncertain significance (Jun 29, 2023)
2-241191225-C-G		not specified	Uncertain significance (Aug 08, 2022)
2-241191245-C-T		not specified	Uncertain significance (Jul 21, 2021)
2-241191246-G-A		not specified	Uncertain significance (Mar 01, 2023)
2-241191524-T-A			Benign (Nov 11, 2018)
2-241195442-A-G			Benign (Nov 10, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANO7	protein_coding	protein_coding	ENST00000274979	25	36869

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.46e-42	8.87e-8	125030	3	715	125748	0.00286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.174	564	576	0.980	0.0000365	5966
Missense in Polyphen		166	182.64	0.90889		2007
Synonymous	-1.61	281	249	1.13	0.0000170	1860
Loss of Function	-0.721	60	54.3	1.11	0.00000280	555

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0129	0.0126
Ashkenazi Jewish	0.00328	0.00328
East Asian	0.00355	0.00354
Finnish	0.00352	0.00347
European (Non-Finnish)	0.00237	0.00233
Middle Eastern	0.00355	0.00354
South Asian	0.000854	0.000850
Other	0.00231	0.00228

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Does not exhibit calcium- activated chloride channel (CaCC) activity. May play a role in cell-cell interactions. {ECO:0000250|UniProtKB:Q14AT5, ECO:0000269|PubMed:17308099}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.987
• rvis_EVS: 0.27
• rvis_percentile_EVS: 70.59

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.197

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.168

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ano7

Gene ontology

• Biological process: chloride transport;ion transmembrane transport;calcium activated phosphatidylserine scrambling;calcium activated phosphatidylcholine scrambling;calcium activated galactosylceramide scrambling
• Cellular component: endoplasmic reticulum;cytosol;plasma membrane;integral component of membrane;cell junction
• Molecular function: intracellular calcium activated chloride channel activity;phospholipid scramblase activity;protein dimerization activity