ZAN

zonadhesin

Basic information

Region (hg38): 7:100733595-100797797

Links

ENSG00000146839 ∙ NCBI:7455 ∙ OMIM:602372 ∙ HGNC:12857 ∙ Uniprot:Q9Y493 ∙ 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 ZAN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZAN 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				6	1	7
missense			142	28	6	176
nonsense						0
start loss						0
frameshift					2	2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	142	34	9

Variants in ZAN

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

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

Position	Type	Phenotype	Significance	ClinVar
7-100734191-T-C		not specified	Uncertain significance (Dec 03, 2021)
7-100734218-T-A		not specified	Uncertain significance (Jul 05, 2023)
7-100734219-C-A		not specified	Likely benign (Jul 05, 2023)
7-100735734-C-T		not specified	Likely benign (Nov 30, 2022)
7-100735755-G-A		not specified	Likely benign (Jan 09, 2024)
7-100736522-C-T		not specified	Benign (Oct 03, 2017)
7-100736833-C-T		not specified	Uncertain significance (Jan 31, 2024)
7-100736848-G-A		not specified	Uncertain significance (Jan 26, 2022)
7-100736877-G-A		not specified	Likely benign (Oct 26, 2022)
7-100736892-G-A		not specified	Uncertain significance (Jan 03, 2024)
7-100736980-G-A		not specified	Uncertain significance (Apr 07, 2023)
7-100736982-C-T		not specified	Uncertain significance (Jan 08, 2024)
7-100736983-G-A		not specified	Uncertain significance (Apr 08, 2024)
7-100736985-C-T		not specified	Uncertain significance (Jul 13, 2022)
7-100737298-C-A		not specified	Uncertain significance (Nov 07, 2022)
7-100737347-G-A		not specified	Uncertain significance (Feb 15, 2023)
7-100738467-T-C		not specified	Uncertain significance (Nov 09, 2023)
7-100738501-C-A		not specified	Uncertain significance (Aug 30, 2022)
7-100738528-T-A			Likely benign (Jun 01, 2023)
7-100738530-C-T		not specified	Uncertain significance (Mar 01, 2023)
7-100738560-G-C		not specified	Uncertain significance (Jan 25, 2023)
7-100738580-G-A		not specified	Uncertain significance (Nov 07, 2022)
7-100746586-A-G		not specified	Uncertain significance (Jan 03, 2024)
7-100746672-G-T		not specified	Uncertain significance (Oct 13, 2023)
7-100746675-G-T		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZAN	polymorphic_pseudogene	protein_coding	ENST00000546292	46	64171

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.64e-62	8.57e-8	90334	5468	28956	124758	0.149

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.289	1519	1.55e+3	0.979	0.0000909	17532
Missense in Polyphen		176	187.53	0.93852		2256
Synonymous	-1.07	667	633	1.05	0.0000409	5379
Loss of Function	1.08	102	114	0.891	0.00000518	1392

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.439	0.437
Ashkenazi Jewish	0.113	0.110
East Asian	0.617	0.592
Finnish	0.0926	0.0899
European (Non-Finnish)	0.0497	0.0469
Middle Eastern	0.617	0.592
South Asian	0.277	0.264
Other	0.132	0.122

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds in a species-specific manner to the zona pellucida of the egg. May be involved in gamete recognition and/or signaling.

Recessive Scores

• pRec: 0.103

Haploinsufficiency Scores

• pHI: 0.0478
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_CRISPR2: N

Mouse Genome Informatics

• Gene name: Zan
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: binding of sperm to zona pellucida;cell-cell adhesion
• Cellular component: plasma membrane;integral component of membrane