ZNF232

zinc finger protein 232, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 17:5105269-5123162

Links

ENSG00000167840 ∙ NCBI:7775 ∙ OMIM:616463 ∙ HGNC:13026 ∙ Uniprot:Q9UNY5 ∙ 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 ZNF232 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF232 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				1		1
missense			32	1		33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	2	0

Variants in ZNF232

This is a list of pathogenic ClinVar variants found in the ZNF232 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-5105835-G-A		not specified	Uncertain significance (Jun 06, 2023)
17-5105858-C-T		not specified	Likely benign (Dec 19, 2023)
17-5105923-C-A		not specified	Uncertain significance (Dec 21, 2023)
17-5105942-C-T		not specified	Uncertain significance (Dec 28, 2023)
17-5105950-A-T		not specified	Uncertain significance (Apr 28, 2023)
17-5106015-A-T		not specified	Uncertain significance (Jan 26, 2022)
17-5106022-C-A		not specified	Uncertain significance (Mar 01, 2023)
17-5106081-C-T		not specified	Uncertain significance (Jan 31, 2022)
17-5106102-G-C		not specified	Uncertain significance (Mar 19, 2024)
17-5106107-C-A		not specified	Uncertain significance (Dec 28, 2023)
17-5106120-C-A		not specified	Uncertain significance (Aug 13, 2021)
17-5106167-T-C		not specified	Uncertain significance (May 08, 2023)
17-5106218-T-C		not specified	Uncertain significance (Oct 13, 2023)
17-5106222-T-C		not specified	Uncertain significance (Jun 11, 2024)
17-5106225-A-C		not specified	Uncertain significance (Jan 26, 2022)
17-5106240-C-T		not specified	Uncertain significance (Jan 23, 2023)
17-5106251-T-C		not specified	Uncertain significance (Dec 21, 2022)
17-5106255-C-T		not specified	Uncertain significance (Dec 06, 2021)
17-5106269-G-A		not specified	Uncertain significance (Mar 01, 2023)
17-5106288-C-T		not specified	Uncertain significance (Sep 27, 2022)
17-5106292-C-T		not specified	Uncertain significance (Mar 19, 2024)
17-5106415-T-G		not specified	Uncertain significance (Mar 01, 2023)
17-5106468-A-C		not specified	Uncertain significance (Jan 24, 2024)
17-5106500-G-C		not specified	Uncertain significance (Apr 20, 2023)
17-5109027-G-A		not specified	Uncertain significance (Jan 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF232	protein_coding	protein_coding	ENST00000250076	4	17576

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000337	0.949	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.270	226	238	0.951	0.0000119	2902
Missense in Polyphen		10	17.473	0.57231		175
Synonymous	-0.284	89	85.7	1.04	0.00000409	845
Loss of Function	1.79	10	18.2	0.548	8.81e-7	216

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000389	0.000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.000217	0.000217
South Asian	0.000105	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0907

Intolerance Scores

• loftool: 0.880
• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.93

Haploinsufficiency Scores

• pHI: 0.117
• hipred: N
• hipred_score: 0.139
• ghis: 0.522

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.628

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;cytosol;intracellular membrane-bounded organelle
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding