PTAR1

protein prenyltransferase alpha subunit repeat containing 1, the group of Prenyltransferase alpha subunit repeat containing

Basic information

Region (hg38): 9:69709522-69760011

Links

ENSG00000188647 ∙ NCBI:375743 ∙ ∙ HGNC:30449 ∙ Uniprot:Q7Z6K3 ∙ 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 PTAR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTAR1 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			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	1	0

Variants in PTAR1

This is a list of pathogenic ClinVar variants found in the PTAR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-69718349-C-T		not specified	Uncertain significance (Mar 07, 2023)
9-69718406-C-T		not specified	Uncertain significance (Apr 19, 2024)
9-69718545-T-C		not specified	Uncertain significance (May 31, 2022)
9-69718548-C-T		not specified	Uncertain significance (Jan 29, 2024)
9-69718679-T-C		not specified	Uncertain significance (May 18, 2022)
9-69718683-G-A		not specified	Uncertain significance (Jul 06, 2021)
9-69723396-C-T		not specified	Uncertain significance (Feb 27, 2023)
9-69723445-T-G		not specified	Uncertain significance (Oct 28, 2023)
9-69723461-G-A		not specified	Likely benign (Jun 29, 2023)
9-69723489-G-A		not specified	Uncertain significance (Feb 15, 2023)
9-69723519-C-T		not specified	Uncertain significance (Jan 17, 2023)
9-69723555-G-A		not specified	Uncertain significance (Jan 02, 2024)
9-69723606-T-C		not specified	Uncertain significance (Jan 22, 2024)
9-69732257-C-T		not specified	Uncertain significance (Apr 06, 2024)
9-69732260-T-C		not specified	Uncertain significance (Nov 10, 2022)
9-69750816-A-G		not specified	Uncertain significance (May 15, 2024)
9-69750928-A-C		not specified	Uncertain significance (Dec 27, 2023)
9-69750948-T-C		not specified	Uncertain significance (Sep 06, 2022)
9-69759904-A-C		not specified	Uncertain significance (Sep 29, 2022)
9-69759913-G-A		not specified	Uncertain significance (May 09, 2023)
9-69759928-G-A		not specified	Uncertain significance (Sep 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTAR1	protein_coding	protein_coding	ENST00000340434	8	50438

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.864	0.136	124510	0	16	124526	0.0000642

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.44	148	206	0.717	0.0000104	2620
Missense in Polyphen		26	53.743	0.48378		670
Synonymous	0.450	70	75.0	0.934	0.00000368	771
Loss of Function	3.49	3	19.7	0.152	0.00000101	230

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000175	0.000175
Ashkenazi Jewish	0.00	0.00
East Asian	0.000396	0.000390
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000177
Middle Eastern	0.000396	0.000390
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.638
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

• pHI: 0.239
• hipred: Y
• hipred_score: 0.530
• ghis: 0.550

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0903

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ptar1

Gene ontology

• Biological process: protein prenylation
• Cellular component: cytoplasm
• Molecular function: protein prenyltransferase activity