GeneBe

OLA1

Obg like ATPase 1

Basic information

Region (hg38): 2:174072447-174248599

Previous symbols: [ "GTPBP9" ]

Links

ENSG00000138430 ∙ NCBI:29789 ∙ OMIM:611175 ∙ HGNC:28833 ∙ Uniprot:Q9NTK5 ∙ 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 OLA1 gene.

  • not_specified (40 variants)
  • Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OLA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013341.5. 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
0
missense
41
clinvar
 41
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 41 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
OLA1protein_codingprotein_codingENST00000284719 10176252
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.05810.9411257260131257390.0000517
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.751312010.6520.000009462632
Missense in Polyphen3775.4110.490641041
Synonymous-0.6747467.01.100.00000329698
Loss of Function2.98620.60.2920.00000103268

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006450.0000615
Ashkenazi Jewish0.000.00
East Asian0.00005690.0000544
Finnish0.000.00
European (Non-Finnish)0.00006480.0000615
Middle Eastern0.00005690.0000544
South Asian0.0001410.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Hydrolyzes ATP, and can also hydrolyze GTP with lower efficiency. Has lower affinity for GTP. {ECO:0000255|HAMAP- Rule:MF_03167}.;
Pathway
Platelet degranulation ;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis (Consensus)

Recessive Scores

pRec
0.253

Intolerance Scores

loftool
0.448
rvis_EVS
-0.23
rvis_percentile_EVS
37.11

Haploinsufficiency Scores

pHI
0.529
hipred
Y
hipred_score
0.528
ghis
0.610

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.539

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ola1
Phenotype
homeostasis/metabolism phenotype; growth/size/body region phenotype; respiratory system phenotype; liver/biliary system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); embryo phenotype;

Gene ontology

Biological process
platelet degranulation;ATP metabolic process
Cellular component
extracellular region;nucleolus;cytoplasm;centrosome;cytosol;membrane;platelet alpha granule lumen;extracellular exosome
Molecular function
protein binding;ATP binding;GTP binding;ATPase activity;ribosome binding;ribosomal large subunit binding;cadherin binding;metal ion binding