ZAR1L

protein-coding

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

Gene summary

This gene encodes a member of the ZAR1 family that is predominantly expressed in oocytes and early embryos. The protein may function as an RNA regulator in early embryos. [provided by RefSeq, Apr 2010]

MANE transcript

NM_001136571.2

Inheritance

—

ClinVar variants

U:40B:3

Top phenotype

Hereditary breast ovarian cancer syndrome

gnomAD constraint

pLI —, LoF o/e 0.3

Max pathogenic AF

—

Genomic locus

chr13:32,303,699-32,315,363

External References & Databases

Ensembl (ENSG00000189167)

Transcript & Mutation Effects

hg38 • Region Span ~11.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZAR1L variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

Hereditary breast ovarian cancer syndromeTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001136571.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			40 clinvar	3 clinvar		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	3	0	43

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001136571.2	RefSeq	NP_001130043.1	4	MANE Select
ENST00000533490.7	Ensembl	ENSP00000437289.2	4	MANE Select
ENST00000345108.6	Ensembl	ENSP00000344616.5	4	Standard
ENST00000345108.7	Ensembl	ENSP00000344616.5	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000533490
Coding exons: 4
Length: 11645
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.69	123	188	0.654	0.0000116	2067
Missense (PolyPhen)		19	39.379	0.48249		558
Synonymous	1.51	64	81.3	0.787	0.00000567	628
Loss of Function	2.37	4	13.3	0.300	6.90e-7	159

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.3
RVIS percentile EVS: 71.81

Essentials

Essential (CRISPR): E
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0801

Gene Damage Prediction

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