ZNG1F

Zn regulated GTPase metalloprotein activator 1F

Basic information

Region (hg38): 9:41131306-41199261

Previous symbols: [ "CBWD7", "CBWD6" ]

Links

ENSG00000215126 ∙ NCBI:644019 ∙ ∙ HGNC:31978 ∙ Uniprot:Q4V339 ∙ 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 ZNG1F gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNG1F 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				1		1
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	1	0

Variants in ZNG1F

This is a list of pathogenic ClinVar variants found in the ZNG1F region.

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

Position	Type	Phenotype	Significance	ClinVar
9-41132233-A-T		not specified	Uncertain significance (Feb 15, 2023)
9-41132264-C-A		not specified	Uncertain significance (Dec 30, 2024)
9-41132278-G-A		not specified	Uncertain significance (Aug 12, 2021)
9-41132313-C-G		not specified	Uncertain significance (May 13, 2024)
9-41132345-T-C		not specified	Uncertain significance (Jan 17, 2023)
9-41133512-C-T		not specified	Uncertain significance (Sep 16, 2021)
9-41133527-C-T		not specified	Uncertain significance (Jan 17, 2025)
9-41133694-G-A		not specified	Uncertain significance (Aug 13, 2021)
9-41133718-C-T		not specified	Uncertain significance (Sep 16, 2021)
9-41133727-T-C		not specified	Uncertain significance (Oct 26, 2024)
9-41156391-A-G			Likely benign (Dec 01, 2024)
9-41165050-T-C		not specified	Uncertain significance (May 24, 2023)
9-41165079-G-A		not specified	Uncertain significance (Jun 26, 2024)
9-41174338-T-C		not specified	Uncertain significance (Jan 20, 2023)
9-41183583-A-C		not specified	Uncertain significance (Sep 30, 2024)
9-41183584-A-C			Likely benign (Sep 01, 2022)
9-41183634-C-A		not specified	Uncertain significance (Aug 12, 2024)
9-41183654-G-A		not specified	Uncertain significance (Dec 23, 2024)
9-41183657-C-A		not specified	Uncertain significance (Oct 12, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.255
• ghis: 0.420

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0739

Gene Damage Prediction

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

Gene ontology

• Molecular function: ATP binding