GeneBe

ANO9

anoctamin 9, the group of Anoctamins

Basic information

Region (hg38): 11:417933-442011

Previous symbols: [ "TP53I5", "TMEM16J" ]

Links

ENSG00000185101 ∙ NCBI:338440 ∙ OMIM:619963 ∙ HGNC:20679 ∙ Uniprot:A1A5B4 ∙ 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 ANO9 gene.

  • not_specified (118 variants)
  • not_provided (7 variants)
  • Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANO9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001012302.3. 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.

EffectPLPVUSLBBSum
synonymous
4
clinvar
1
clinvar
 5
missense
113
clinvar
7
clinvar
 120
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 113 11 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANO9protein_codingprotein_codingENST00000332826 2324079
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
8.45e-160.8341256420711257130.000282
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.214435200.8510.00003525107
Missense in Polyphen165215.660.76512209
Synonymous0.5632162270.9520.00001671520
Loss of Function2.043145.90.6750.00000232472

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008600.000858
Ashkenazi Jewish0.000.00
East Asian0.0002760.000272
Finnish0.00004630.0000462
European (Non-Finnish)0.0002630.000255
Middle Eastern0.0002760.000272
South Asian0.0003920.000392
Other0.000.00

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. Can inhibit the activity of ANO1. {ECO:0000250|UniProtKB:P86044, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:22946059}.;
Pathway
Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

pRec
0.0969

Intolerance Scores

loftool
0.851
rvis_EVS
-0.26
rvis_percentile_EVS
34.98

Haploinsufficiency Scores

pHI
0.0929
hipred
N
hipred_score
0.259
ghis
0.504

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0987

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ano9
Phenotype

Gene ontology

Biological process
chloride transport;ion transmembrane transport;calcium activated phosphatidylserine scrambling;calcium activated phosphatidylcholine scrambling;calcium activated galactosylceramide scrambling;negative regulation of intracellular calcium activated chloride channel activity
Cellular component
plasma membrane;integral component of membrane
Molecular function
intracellular calcium activated chloride channel activity;protein binding;phospholipid scramblase activity