ZFAND2A

zinc finger AN1-type containing 2A, the group of Zinc fingers AN1-type

Basic information

Region (hg38): 7:1151903-1160759

Links

ENSG00000178381 ∙ NCBI:90637 ∙ OMIM:610699 ∙ HGNC:28073 ∙ Uniprot:Q8N6M9 ∙ 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 ZFAND2A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFAND2A 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			13			13
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	0	0

Variants in ZFAND2A

This is a list of pathogenic ClinVar variants found in the ZFAND2A region.

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

Position	Type	Phenotype	Significance	ClinVar
7-1153074-C-A		not specified	Uncertain significance (Jan 09, 2024)
7-1153074-C-G		not specified	Uncertain significance (May 02, 2024)
7-1153076-G-C		not specified	Uncertain significance (Nov 17, 2022)
7-1153098-C-T		not specified	Uncertain significance (Apr 12, 2024)
7-1153149-C-T		not specified	Uncertain significance (Nov 09, 2022)
7-1153211-C-T		not specified	Uncertain significance (Feb 23, 2023)
7-1155469-C-G		not specified	Uncertain significance (Jun 10, 2022)
7-1155500-G-T		not specified	Uncertain significance (Mar 15, 2024)
7-1155505-C-G		not specified	Uncertain significance (Jun 22, 2023)
7-1155531-C-G		not specified	Uncertain significance (Oct 16, 2023)
7-1157657-T-C		not specified	Uncertain significance (Jan 26, 2022)
7-1157666-G-A		not specified	Uncertain significance (May 29, 2024)
7-1157672-G-A		not specified	Uncertain significance (Jun 21, 2021)
7-1157688-C-T		not specified	Uncertain significance (Sep 25, 2023)
7-1157699-T-C		not specified	Uncertain significance (May 08, 2024)
7-1157709-A-C		not specified	Uncertain significance (May 03, 2023)
7-1157721-T-C		not specified	Uncertain significance (Dec 06, 2021)
7-1157726-G-A		not specified	Uncertain significance (Aug 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZFAND2A	protein_coding	protein_coding	ENST00000316495	4	8689

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00299	0.604	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.946	109	84.5	1.29	0.00000446	981
Missense in Polyphen		45	35.171	1.2795		421
Synonymous	-2.23	46	30.4	1.51	0.00000191	240
Loss of Function	0.414	4	5.00	0.800	2.10e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000258	0.000255
Middle Eastern	0.0000544	0.0000544
South Asian	0.000196	0.000196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0864

Intolerance Scores

• loftool: 0.621
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.0934
• hipred: N
• hipred_score: 0.144
• ghis: 0.414

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.626

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfand2a
• Phenotype: cellular phenotype

Gene ontology

• Biological process: positive regulation of proteasomal ubiquitin-dependent protein catabolic process;cellular response to arsenic-containing substance
• Cellular component: proteasome complex;nucleus;cytoplasm
• Molecular function: zinc ion binding