ZNF732

zinc finger protein 732, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 4:270674-305474

Links

ENSG00000186777 ∙ NCBI:654254 ∙ ∙ HGNC:37138 ∙ Uniprot:B4DXR9 ∙ 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 ZNF732 gene.

• Inborn genetic diseases (28 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF732 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			25	3		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	25	3	0

Variants in ZNF732

This is a list of pathogenic ClinVar variants found in the ZNF732 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-271103-A-G		not specified	Uncertain significance (Oct 10, 2023)
4-271107-T-G		not specified	Uncertain significance (Oct 10, 2023)
4-271116-T-C		not specified	Uncertain significance (Oct 10, 2023)
4-271119-A-C		not specified	Uncertain significance (Oct 10, 2023)
4-271126-A-C		not specified	Uncertain significance (Oct 10, 2023)
4-271133-T-G		not specified	Uncertain significance (Feb 12, 2024)
4-271135-A-C		not specified	Uncertain significance (Jul 17, 2023)
4-271236-G-A		not specified	Uncertain significance (Nov 21, 2022)
4-271283-G-T		not specified	Uncertain significance (Jan 11, 2023)
4-271284-T-C		not specified	Uncertain significance (Jan 11, 2023)
4-271286-T-C		not specified	Uncertain significance (Jan 09, 2024)
4-271314-T-C		not specified	Uncertain significance (Aug 04, 2023)
4-271374-T-C		not specified	Uncertain significance (Nov 13, 2023)
4-271382-T-C		not specified	Uncertain significance (Mar 20, 2023)
4-271406-A-C			Likely benign (Mar 01, 2024)
4-271449-C-T		not specified	Uncertain significance (Jan 04, 2024)
4-271460-T-A		not specified	Uncertain significance (Oct 22, 2021)
4-271514-C-T		not specified	Uncertain significance (Dec 06, 2022)
4-271544-A-G		not specified	Uncertain significance (Oct 25, 2023)
4-271566-T-C		not specified	Uncertain significance (Jan 31, 2022)
4-271677-C-T		not specified	Uncertain significance (Dec 14, 2023)
4-271718-T-C		not specified	Uncertain significance (Sep 01, 2021)
4-271740-G-T		not specified	Uncertain significance (Oct 06, 2021)
4-271775-G-A		not specified	Uncertain significance (Dec 20, 2021)
4-271875-G-A		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF732	protein_coding	protein_coding	ENST00000419098	4	34647

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0982	0.782	125673	0	53	125726	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.520	294	270	1.09	0.0000123	3830
Missense in Polyphen		113	108.24	1.044		1547
Synonymous	-0.567	105	97.9	1.07	0.00000455	1003
Loss of Function	1.19	2	4.82	0.415	2.03e-7	61

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.000219	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.00000887	0.00000879
Middle Eastern	0.000219	0.000217
South Asian	0.00151	0.00147
Other	0.000339	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• rvis_EVS: 2.15
• rvis_percentile_EVS: 97.99

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.394

Essentials

• essential_gene_CRISPR: 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

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