ANO7

anoctamin 7, the group of Anoctamins

Basic information

Region (hg38): 2:241188509-241225976

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

Links

ENSG00000146205NCBI:50636OMIM:605096HGNC:31677Uniprot:Q6IWH7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

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_specified (152 variants)
  • not_provided (33 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. These statistics are base on transcript: NM_001370694.2. 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.

EffectPLPVUSLBBSum
synonymous
7
clinvar
5
clinvar
12
missense
146
clinvar
9
clinvar
6
clinvar
161
nonsense
0
start loss
0
frameshift
2
clinvar
1
clinvar
3
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 146 19 12
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANO7protein_codingprotein_codingENST00000274979 2536869
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.46e-428.87e-812503037151257480.00286
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.1745645760.9800.00003655966
Missense in Polyphen166182.640.908892007
Synonymous-1.612812491.130.00001701860
Loss of Function-0.7216054.31.110.00000280555

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.01290.0126
Ashkenazi Jewish0.003280.00328
East Asian0.003550.00354
Finnish0.003520.00347
European (Non-Finnish)0.002370.00233
Middle Eastern0.003550.00354
South Asian0.0008540.000850
Other0.002310.00228

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
ghis

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ano7
Phenotype

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