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.

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.

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						0
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	0

Variants in OLA1

This is a list of pathogenic ClinVar variants found in the OLA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-174075472-A-G		not specified	Uncertain significance (Sep 07, 2022)
2-174078985-A-T		not specified	Uncertain significance (Apr 12, 2023)
2-174081168-C-T		not specified	Uncertain significance (Apr 12, 2024)
2-174081219-A-T		not specified	Uncertain significance (Mar 30, 2024)
2-174081927-T-C		not specified	Uncertain significance (Aug 02, 2022)
2-174081939-G-T		not specified	Uncertain significance (Mar 30, 2024)
2-174081941-T-G		not specified	Uncertain significance (Mar 20, 2023)
2-174081957-C-T		not specified	Uncertain significance (Mar 30, 2024)
2-174081973-A-T		not specified	Uncertain significance (Mar 30, 2024)
2-174081974-T-A		not specified	Uncertain significance (Mar 30, 2024)
2-174082006-A-C		Malignant tumor of prostate	Uncertain significance (-)
2-174082017-A-G		not specified	Uncertain significance (Feb 06, 2023)
2-174082027-G-A		not specified	Uncertain significance (Jun 30, 2022)
2-174082033-A-G		not specified	Uncertain significance (Mar 30, 2024)
2-174123617-T-C		not specified	Uncertain significance (Jun 21, 2023)
2-174123669-T-G		not specified	Uncertain significance (Jan 30, 2024)
2-174141892-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-174141940-A-G		not specified	Uncertain significance (Oct 12, 2022)
2-174223040-A-T		not specified	Uncertain significance (Dec 15, 2023)
2-174223105-G-A		not specified	Uncertain significance (Aug 02, 2022)
2-174223107-G-A		not specified	Uncertain significance (Jun 06, 2023)
2-174229354-G-A		not specified	Uncertain significance (Jul 21, 2021)
2-174246742-A-G		not specified	Uncertain significance (Jun 17, 2024)
2-174246778-G-A		not specified	Uncertain significance (Jul 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OLA1	protein_coding	protein_coding	ENST00000284719	10	176252

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0581	0.941	125726	0	13	125739	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.75	131	201	0.652	0.00000946	2632
Missense in Polyphen		37	75.411	0.49064		1041
Synonymous	-0.674	74	67.0	1.10	0.00000329	698
Loss of Function	2.98	6	20.6	0.292	0.00000103	268

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000645	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000569	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000648	0.0000615
Middle Eastern	0.0000569	0.0000544
South Asian	0.000141	0.000131
Other	0.00	0.00

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

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

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