ZAR1

zygote arrest 1, the group of Zinc fingers 3CxxC-type

Basic information

Region (hg38): 4:48490252-48494389

Links

ENSG00000182223 ∙ NCBI:326340 ∙ OMIM:607520 ∙ HGNC:20436 ∙ Uniprot:Q86SH2 ∙ 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 ZAR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZAR1 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			51	1		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	51	1	0

Variants in ZAR1

This is a list of pathogenic ClinVar variants found in the ZAR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-48490296-C-T		not specified	Uncertain significance (Dec 20, 2022)
4-48490302-T-C		not specified	Uncertain significance (Jun 16, 2023)
4-48490333-C-A		not specified	Uncertain significance (Oct 17, 2023)
4-48490335-C-G		not specified	Uncertain significance (Oct 17, 2023)
4-48490335-C-T		not specified	Uncertain significance (Sep 21, 2023)
4-48490349-T-C		not specified	Uncertain significance (Oct 12, 2022)
4-48490466-G-T		not specified	Uncertain significance (Jul 09, 2021)
4-48490536-G-T		not specified	Uncertain significance (Aug 16, 2021)
4-48490562-G-A		not specified	Uncertain significance (Jul 13, 2022)
4-48490574-G-C		not specified	Uncertain significance (May 20, 2024)
4-48490595-G-C		not specified	Uncertain significance (Dec 13, 2022)
4-48490607-G-A		not specified	Uncertain significance (May 04, 2022)
4-48490611-C-T		not specified	Uncertain significance (Oct 25, 2022)
4-48490637-G-A		not specified	Uncertain significance (Sep 28, 2022)
4-48490644-T-C		not specified	Uncertain significance (Oct 29, 2021)
4-48490677-G-T		not specified	Uncertain significance (Oct 26, 2022)
4-48490679-C-T		not specified	Uncertain significance (Nov 18, 2022)
4-48490680-G-A		not specified	Uncertain significance (Sep 01, 2021)
4-48490691-C-T		not specified	Uncertain significance (Jul 07, 2022)
4-48490703-G-A		not specified	Uncertain significance (Jan 06, 2023)
4-48490719-A-C		not specified	Uncertain significance (Aug 04, 2021)
4-48490740-C-G		not specified	Uncertain significance (Jan 31, 2024)
4-48490767-G-A		not specified	Uncertain significance (Jan 08, 2024)
4-48490770-T-A		not specified	Uncertain significance (Apr 30, 2024)
4-48490781-A-C		not specified	Uncertain significance (Nov 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZAR1	protein_coding	protein_coding	ENST00000327939	4	4138

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000435	0.653	125734	0	9	125743	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.877	103	131	0.785	0.00000751	2551
Missense in Polyphen		35	55.83	0.62691		679
Synonymous	-0.467	58	53.7	1.08	0.00000309	889
Loss of Function	0.866	8	11.1	0.720	5.61e-7	178

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential for female fertility. May play a role in the oocyte-to-embryo transition (By similarity). {ECO:0000250}.
• Pathway: Preimplantation Embryo (Consensus)

Haploinsufficiency Scores

• pHI: 0.101
• hipred: N
• hipred_score: 0.247

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.112

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zar1
• Phenotype: reproductive system phenotype

Zebrafish Information Network

• Gene name: zar1
• Affected structure: oocyte
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: multicellular organism development
• Cellular component: cytoplasm