ZFAND1

zinc finger AN1-type containing 1, the group of Zinc fingers AN1-type

Basic information

Region (hg38): 8:81701333-81732903

Links

ENSG00000104231 ∙ NCBI:79752 ∙ ∙ HGNC:25858 ∙ Uniprot:Q8TCF1 ∙ 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 ZFAND1 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFAND1 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			7			7
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	8	0	0

Variants in ZFAND1

This is a list of pathogenic ClinVar variants found in the ZFAND1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-81702857-C-A		not specified	Uncertain significance (Jan 08, 2024)
8-81703025-C-A		not specified	Uncertain significance (Dec 07, 2023)
8-81703028-T-C		not specified	Uncertain significance (Jan 23, 2023)
8-81703028-T-G		not specified	Uncertain significance (Oct 14, 2023)
8-81703102-A-C		not specified	Uncertain significance (May 04, 2023)
8-81713971-C-A		not specified	Uncertain significance (Jun 24, 2022)
8-81713971-C-T		not specified	Uncertain significance (Aug 11, 2022)
8-81714831-T-C		not specified	Uncertain significance (Dec 21, 2023)
8-81714878-T-G		not specified	Uncertain significance (Aug 23, 2021)
8-81714891-G-A		not specified	Uncertain significance (Jan 23, 2023)
8-81714988-T-C		not specified	Uncertain significance (May 24, 2023)
8-81717251-C-T		not specified	Uncertain significance (Jan 30, 2024)
8-81717260-C-A		not specified	Uncertain significance (Apr 04, 2023)
8-81721266-T-A		not specified	Uncertain significance (Jun 06, 2023)
8-81732681-G-C		not specified	Uncertain significance (Feb 17, 2024)
8-81732744-C-G		not specified	Uncertain significance (May 04, 2022)
8-81732798-G-C		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFAND1	protein_coding	protein_coding	ENST00000220669	8	31570

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.93e-8	0.399	125630	1	106	125737	0.000426

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.000999	132	132	1.00	0.00000611	1771
Missense in Polyphen		30	31.848	0.94196		405
Synonymous	-0.916	52	44.2	1.18	0.00000207	450
Loss of Function	0.766	13	16.3	0.795	9.21e-7	202

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000305	0.000302
Ashkenazi Jewish	0.00109	0.00109
East Asian	0.000328	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000664	0.000660
Middle Eastern	0.000328	0.000272
South Asian	0.000253	0.000229
Other	0.000335	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of cytoplasmic stress granules (SGs) turnover. SGs are dynamic and transient cytoplasmic ribonucleoprotein assemblies important for cellular protein homeostasis when protein production is suspended after acute exogenous stress (PubMed:29804830). Associates with SGs and is involved in the efficient and specific arsenite-induced clearance process of SGs through the recruitment of the ubiquitin-selective ATPase VCP and the 26S proteasome (PubMed:29804830). This process requires both complexes for efficient degradation of damaged ubiquitinated SG proteins during recovery from arsenite stress, and hence avoiding aberrant cytoplasmic SGs degradation via autophagy (PubMed:29804830). {ECO:0000269|PubMed:29804830}.

Recessive Scores

• pRec: 0.0901

Intolerance Scores

• loftool: 0.255
• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.253
• ghis: 0.635

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.291

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfand1

Gene ontology

• Biological process: cellular response to oxidative stress;cellular response to heat;stress granule disassembly;cellular response to osmotic stress;positive regulation of intracellular protein transport;cellular response to arsenite ion
• Cellular component: cytoplasmic stress granule
• Molecular function: protein binding;zinc ion binding;proteasome binding