PTOV1

PTOV1 extended AT-hook containing adaptor protein, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 19:49850734-49860744

Links

ENSG00000104960 ∙ NCBI:53635 ∙ OMIM:610195 ∙ HGNC:9632 ∙ Uniprot:Q86YD1 ∙ 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 PTOV1 gene.

• Inborn genetic diseases (33 variants)
• Long QT syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PTOV1 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			32	2		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	2	0

Variants in PTOV1

This is a list of pathogenic ClinVar variants found in the PTOV1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-49851344-C-T		not specified	Uncertain significance (Jan 26, 2022)
19-49851345-G-A		not specified	Uncertain significance (Jan 03, 2022)
19-49851350-C-T		not specified	Uncertain significance (Jun 11, 2021)
19-49851366-C-A		not specified	Uncertain significance (Sep 01, 2021)
19-49851377-C-G		not specified	Uncertain significance (Nov 08, 2022)
19-49851393-G-T		not specified	Uncertain significance (Jan 19, 2024)
19-49851410-G-A		not specified	Uncertain significance (Dec 15, 2023)
19-49851444-C-T		not specified	Uncertain significance (Jan 10, 2023)
19-49851453-G-A		not specified	Uncertain significance (Sep 15, 2022)
19-49851455-G-T		not specified	Uncertain significance (Jan 10, 2023)
19-49851456-G-A		not specified	Uncertain significance (Feb 07, 2023)
19-49851458-C-T		not specified	Uncertain significance (Sep 14, 2022)
19-49854428-C-T		not specified	Uncertain significance (Jun 28, 2022)
19-49854442-G-T		not specified	Uncertain significance (Aug 12, 2021)
19-49854448-T-G		not specified	Uncertain significance (May 17, 2023)
19-49854494-G-A		not specified	Uncertain significance (Mar 20, 2023)
19-49854521-G-T		not specified	Uncertain significance (May 03, 2023)
19-49854526-G-A		not specified	Uncertain significance (Dec 06, 2021)
19-49854677-C-A		not specified	Uncertain significance (Mar 20, 2023)
19-49854722-A-G		not specified	Uncertain significance (Jun 16, 2023)
19-49854970-A-G		not specified	Uncertain significance (Jun 12, 2023)
19-49857000-T-C		not specified	Uncertain significance (Mar 24, 2023)
19-49857003-C-T		not specified	Uncertain significance (Apr 27, 2023)
19-49857018-G-A		not specified	Uncertain significance (Mar 20, 2023)
19-49857051-A-T		Long QT syndrome	Likely benign (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PTOV1	protein_coding	protein_coding	ENST00000391842	12	10010

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.757	0.243	125727	0	17	125744	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0583	234	232	1.01	0.0000152	2631
Missense in Polyphen		50	66.764	0.7489		681
Synonymous	-4.09	148	96.8	1.53	0.00000682	843
Loss of Function	3.58	4	22.2	0.180	0.00000105	243

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000120	0.000119
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000931	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May activate transcription. Required for nuclear translocation of FLOT1. Promotes cell proliferation. {ECO:0000269|PubMed:12598323, ECO:0000269|PubMed:15713644, ECO:0000269|PubMed:17641689}.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.148
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.88

Haploinsufficiency Scores

• pHI: 0.369
• hipred: N
• hipred_score: 0.480
• ghis: 0.630

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.904

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ptov1

Gene ontology

• Biological process: positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;plasma membrane;nuclear transcription factor complex;perinuclear region of cytoplasm