OVOL1

ovo like transcriptional repressor 1, the group of SNAG transcriptional repressors|Zinc fingers C2H2-type

Basic information

Region (hg38): 11:65787063-65797214

Links

ENSG00000172818 ∙ NCBI:5017 ∙ OMIM:602313 ∙ HGNC:8525 ∙ Uniprot:O14753 ∙ 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 OVOL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OVOL1 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			9	2		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	10	2	0

Variants in OVOL1

This is a list of pathogenic ClinVar variants found in the OVOL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-65787427-C-G		not specified	Uncertain significance (Mar 28, 2024)
11-65787471-C-T		not specified	Uncertain significance (Apr 04, 2024)
11-65794060-T-G		not specified	Uncertain significance (Sep 08, 2024)
11-65794063-C-T		not specified	Uncertain significance (Dec 19, 2022)
11-65794064-G-A		not specified	Uncertain significance (Mar 23, 2023)
11-65794066-G-A		not specified	Uncertain significance (Aug 20, 2024)
11-65794066-G-C		not specified	Uncertain significance (Oct 14, 2023)
11-65794087-G-A			Likely benign (Jan 01, 2023)
11-65794127-G-A		not specified	Uncertain significance (Nov 19, 2024)
11-65794162-G-T		not specified	Uncertain significance (Jan 24, 2024)
11-65794234-C-T		not specified	Uncertain significance (Jun 10, 2024)
11-65794580-C-T		not specified	Uncertain significance (Dec 22, 2023)
11-65794581-G-A		not specified	Likely benign (Oct 12, 2021)
11-65794596-C-T		not specified	Uncertain significance (Oct 27, 2022)
11-65794643-G-A		not specified	Uncertain significance (Mar 07, 2024)
11-65794674-G-A		not specified	Uncertain significance (Jan 23, 2024)
11-65794686-A-G		not specified	Uncertain significance (Aug 14, 2024)
11-65795148-C-G		not specified	Uncertain significance (Jul 31, 2024)
11-65795215-G-T		not specified	Uncertain significance (Jul 25, 2024)
11-65795247-C-T		not specified	Uncertain significance (Sep 03, 2024)
11-65795253-G-T		not specified	Uncertain significance (Feb 06, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OVOL1	protein_coding	protein_coding	ENST00000335987	4	10198

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.878	0.122	125617	0	2	125619	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.37	116	166	0.700	0.0000107	1746
Missense in Polyphen		31	54.989	0.56375		548
Synonymous	0.545	66	71.9	0.918	0.00000487	518
Loss of Function	2.83	1	11.2	0.0889	6.34e-7	123

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000883	0.00000881
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Putative transcription factor. Involved in hair formation and spermatogenesis. May function in the differentiation and/or maintenance of the urogenital system (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.115

Intolerance Scores

• loftool: 0.351
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.425
• hipred: Y
• hipred_score: 0.755
• ghis: 0.568

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.950

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ovol1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); reproductive system phenotype; homeostasis/metabolism phenotype; renal/urinary system phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: ovol1a
• Affected structure: axis
• Phenotype tag: abnormal
• Phenotype quality: mislocalised medially

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;kidney development;spermatogenesis;mesoderm development;epidermal cell differentiation;skin development;negative regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II;germline cell cycle switching, mitotic to meiotic cell cycle;negative regulation of meiotic cell cycle phase transition;negative regulation of stem cell proliferation
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;sequence-specific DNA binding;metal ion binding