ZC3HAV1L

zinc finger CCCH-type containing, antiviral 1 like

Basic information

Region (hg38): 7:139025706-139036042

Previous symbols: [ "C7orf39" ]

Links

ENSG00000146858 ∙ NCBI:92092 ∙ ∙ HGNC:22423 ∙ Uniprot:Q96H79 ∙ 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 ZC3HAV1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZC3HAV1L 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			24	1		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	1	0

Variants in ZC3HAV1L

This is a list of pathogenic ClinVar variants found in the ZC3HAV1L region.

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

Position	Type	Phenotype	Significance	ClinVar
7-139026552-C-T		not specified	Uncertain significance (Nov 20, 2024)
7-139026717-G-A		not specified	Uncertain significance (Oct 29, 2024)
7-139026771-C-T		not specified	Uncertain significance (Mar 08, 2025)
7-139026774-C-T		not specified	Uncertain significance (Feb 07, 2025)
7-139026800-C-T		not specified	Uncertain significance (Feb 12, 2024)
7-139026812-T-C		not specified	Uncertain significance (Aug 01, 2024)
7-139026818-G-A		not specified	Uncertain significance (Nov 15, 2024)
7-139028734-T-C		not specified	Uncertain significance (Jun 17, 2024)
7-139028768-C-T		not specified	Uncertain significance (Sep 25, 2023)
7-139028818-T-C		not specified	Uncertain significance (Aug 01, 2024)
7-139028842-C-T		not specified	Uncertain significance (Oct 01, 2024)
7-139028914-T-C		not specified	Uncertain significance (Sep 13, 2023)
7-139028920-T-A		not specified	Uncertain significance (Mar 20, 2024)
7-139034560-G-A		not specified	Uncertain significance (Nov 15, 2024)
7-139034563-C-T		not specified	Uncertain significance (Nov 17, 2023)
7-139034616-T-C		not specified	Uncertain significance (May 05, 2023)
7-139034629-C-A		not specified	Uncertain significance (Sep 08, 2024)
7-139034630-C-G		not specified	Uncertain significance (Jan 09, 2025)
7-139034631-T-C		not specified	Uncertain significance (Jan 19, 2025)
7-139034658-T-C		not specified	Uncertain significance (Jan 26, 2025)
7-139035682-C-T		not specified	Uncertain significance (Jan 09, 2025)
7-139035729-C-T		not specified	Uncertain significance (Jan 02, 2024)
7-139035744-C-A		not specified	Uncertain significance (May 13, 2022)
7-139035779-C-G		not specified	Uncertain significance (Sep 01, 2024)
7-139035783-C-A		not specified	Uncertain significance (Nov 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZC3HAV1L	protein_coding	protein_coding	ENST00000275766	5	10324

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00106	0.839	125726	0	22	125748	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.505	119	136	0.878	0.00000659	1906
Missense in Polyphen		35	44.445	0.78749		605
Synonymous	-0.618	63	57.1	1.10	0.00000292	603
Loss of Function	1.21	6	10.2	0.591	4.30e-7	141

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000119	0.000119
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000658	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.171
• hipred: N
• hipred_score: 0.261
• ghis: 0.499

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.433

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zc3hav1l

Gene ontology

• Cellular component: cytosol