ZFAND4

zinc finger AN1-type containing 4, the group of Zinc fingers AN1-type

Basic information

Region (hg38): 10:45615500-45672780

Previous symbols: [ "ANUBL1" ]

Links

ENSG00000172671 ∙ NCBI:93550 ∙ ∙ HGNC:23504 ∙ Uniprot:Q86XD8 ∙ 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 ZFAND4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFAND4 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			47	2		49
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	48	2	0

Variants in ZFAND4

This is a list of pathogenic ClinVar variants found in the ZFAND4 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-45616474-T-C		not specified	Uncertain significance (Oct 12, 2022)
10-45616480-C-T		not specified	Uncertain significance (Apr 28, 2022)
10-45616531-T-C		not specified	Uncertain significance (Jul 12, 2022)
10-45616566-C-T		not specified	Uncertain significance (Jun 07, 2023)
10-45618152-C-T		not specified	Uncertain significance (May 21, 2024)
10-45618171-T-C		not specified	Uncertain significance (Dec 28, 2023)
10-45618215-T-C		not specified	Uncertain significance (Aug 02, 2023)
10-45618234-G-T		not specified	Uncertain significance (Mar 18, 2024)
10-45624586-C-T		not specified	Likely benign (Apr 19, 2024)
10-45624591-T-C		not specified	Uncertain significance (Mar 01, 2023)
10-45625953-A-C		not specified	Uncertain significance (Nov 18, 2023)
10-45625974-A-T		not specified	Uncertain significance (Aug 04, 2023)
10-45625975-C-A		not specified	Uncertain significance (Jun 02, 2024)
10-45625982-G-C		not specified	Uncertain significance (Jun 23, 2023)
10-45626100-C-T		not specified	Likely benign (Apr 09, 2022)
10-45626111-G-T		not specified	Uncertain significance (Aug 16, 2021)
10-45626163-T-A		not specified	Uncertain significance (May 27, 2022)
10-45626214-T-C		not specified	Uncertain significance (Jul 12, 2023)
10-45626255-G-A		not specified	Uncertain significance (Jul 25, 2023)
10-45626349-T-C		not specified	Uncertain significance (Jan 07, 2022)
10-45626378-G-A		not specified	Uncertain significance (Jun 29, 2023)
10-45626387-G-A		not specified	Uncertain significance (May 03, 2023)
10-45626390-G-T		not specified	Uncertain significance (Aug 16, 2021)
10-45626397-G-A		not specified	Uncertain significance (Mar 06, 2023)
10-45626438-C-T			Likely benign (Jan 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFAND4	protein_coding	protein_coding	ENST00000344646	9	57186

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.16e-11	0.507	125367	1	380	125748	0.00152

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.679	413	376	1.10	0.0000190	4749
Missense in Polyphen		137	122.38	1.1195		1584
Synonymous	1.12	122	139	0.879	0.00000723	1429
Loss of Function	1.32	21	28.6	0.733	0.00000155	380

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00153	0.00152
Ashkenazi Jewish	0.000300	0.000298
East Asian	0.000169	0.000163
Finnish	0.000559	0.000554
European (Non-Finnish)	0.00262	0.00259
Middle Eastern	0.000169	0.000163
South Asian	0.000491	0.000392
Other	0.00280	0.00277

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0897

Intolerance Scores

• rvis_EVS: 0.87
• rvis_percentile_EVS: 88.87

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.338
• ghis: 0.444

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfand4

Gene ontology

• Molecular function: zinc ion binding