ZNF532

zinc finger protein 532, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 18:58862600-58986480

Links

ENSG00000074657 ∙ NCBI:55205 ∙ OMIM:619066 ∙ HGNC:30940 ∙ Uniprot:Q9HCE3 ∙ 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 ZNF532 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF532 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				5	1	6
missense			47	2	1	50
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	48	7	2

Variants in ZNF532

This is a list of pathogenic ClinVar variants found in the ZNF532 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-58918433-A-G		not specified	Uncertain significance (May 01, 2024)
18-58918437-C-T			Likely benign (Jan 01, 2023)
18-58918544-G-A		not specified	Uncertain significance (May 29, 2024)
18-58918708-G-A		not specified	Uncertain significance (Aug 02, 2024)
18-58918713-G-A			Benign/Likely benign (Mar 01, 2022)
18-58918746-G-C		not specified	Uncertain significance (Aug 02, 2023)
18-58918787-C-T			Benign (Apr 26, 2018)
18-58918868-A-G		not specified	Uncertain significance (Jun 13, 2024)
18-58918871-T-C		not specified	Uncertain significance (Mar 27, 2024)
18-58918885-G-T		not specified	Uncertain significance (Feb 05, 2024)
18-58918947-C-T			Likely benign (Aug 01, 2022)
18-58918952-A-C		not specified	Uncertain significance (Feb 01, 2023)
18-58918955-C-T		not specified	Likely benign (Aug 11, 2024)
18-58918983-C-A		not specified	Likely benign (May 20, 2024)
18-58919026-G-A		not specified	Uncertain significance (Jul 17, 2024)
18-58919044-C-G			Likely benign (Jul 03, 2018)
18-58919052-C-T			Likely benign (Feb 01, 2024)
18-58919057-C-T		not specified	Uncertain significance (Nov 30, 2022)
18-58919090-C-T		not specified	Uncertain significance (Jul 29, 2023)
18-58919159-T-C		not specified	Uncertain significance (Feb 07, 2023)
18-58919174-A-C		not specified	Uncertain significance (Jun 30, 2022)
18-58919254-G-A		not specified	Uncertain significance (Jan 19, 2024)
18-58919341-G-A		not specified	Uncertain significance (Oct 12, 2021)
18-58919467-G-A		not specified	Uncertain significance (Aug 10, 2021)
18-58919545-C-A		not specified	Uncertain significance (May 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF532	protein_coding	protein_coding	ENST00000336078	8	123881

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.989	0.0110	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.68	546	753	0.726	0.0000435	8593
Missense in Polyphen		107	239.96	0.44591		3044
Synonymous	-0.745	337	320	1.05	0.0000223	2596
Loss of Function	4.98	6	40.0	0.150	0.00000211	526

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.000370	0.000231
European (Non-Finnish)	0.0000441	0.0000439
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.247
• rvis_EVS: -1.39
• rvis_percentile_EVS: 4.32

Haploinsufficiency Scores

• pHI: 0.837
• hipred: Y
• hipred_score: 0.575
• ghis: 0.608

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.128

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp532

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding