SAXO1

stabilizer of axonemal microtubules 1

Basic information

Region (hg38): 9:18858906-19049358

Previous symbols: [ "C9orf138", "FAM154A" ]

Links

ENSG00000155875NCBI:158297OMIM:616292HGNC:28566Uniprot:Q8IYX7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SAXO1 gene.

  • not_specified (107 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SAXO1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000153707.4. 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
1
clinvar
1
missense
103
clinvar
4
clinvar
107
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 103 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SAXO1protein_codingprotein_codingENST00000380534 4105596
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.30e-210.000066312508346611257480.00265
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-2.704022761.460.00001523111
Missense in Polyphen12687.5471.43921068
Synonymous-1.801241011.230.00000553908
Loss of Function-1.632719.31.400.00000119212

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.01240.0123
Ashkenazi Jewish0.000.00
East Asian0.009950.00994
Finnish0.0001850.000185
European (Non-Finnish)0.001430.00142
Middle Eastern0.009950.00994
South Asian0.0008500.000817
Other0.001470.00147

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play a role in the regulation of cilium length. Stabilizes microtubules at low temperature. {ECO:0000269|PubMed:25673876}.;

Intolerance Scores

loftool
rvis_EVS
2.36
rvis_percentile_EVS
98.43

Haploinsufficiency Scores

pHI
0.176
hipred
N
hipred_score
0.123
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Saxo1
Phenotype

Gene ontology

Biological process
cold acclimation;cell projection organization;microtubule anchoring;positive regulation of cilium assembly;protein stabilization;cellular response to cold
Cellular component
centriole;cytoskeleton;axonemal microtubule;motile cilium;ciliary basal body;sperm flagellum
Molecular function
protein binding;microtubule binding