ZNF221

zinc finger protein 221, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:43951223-43967709

Links

ENSG00000159905 ∙ NCBI:7638 ∙ ∙ HGNC:13014 ∙ Uniprot:Q9UK13 ∙ 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 ZNF221 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF221 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			33	1		34
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	1	0

Variants in ZNF221

This is a list of pathogenic ClinVar variants found in the ZNF221 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-43962805-A-C		not specified	Uncertain significance (Apr 23, 2024)
19-43964974-G-T		not specified	Uncertain significance (Sep 14, 2023)
19-43965027-G-T		not specified	Uncertain significance (May 11, 2022)
19-43965050-A-G		not specified	Uncertain significance (Jul 26, 2022)
19-43965264-C-A		not specified	Uncertain significance (Jan 16, 2024)
19-43965302-C-A		not specified	Uncertain significance (Jan 03, 2024)
19-43965845-G-A		not specified	Uncertain significance (May 28, 2024)
19-43965860-T-C		not specified	Uncertain significance (Jun 01, 2023)
19-43965948-A-G		not specified	Uncertain significance (Jun 17, 2024)
19-43965956-G-A		not specified	Uncertain significance (Feb 27, 2024)
19-43966088-A-G		not specified	Uncertain significance (Oct 17, 2023)
19-43966125-G-A		not specified	Uncertain significance (Feb 15, 2023)
19-43966125-G-C		not specified	Uncertain significance (Oct 29, 2021)
19-43966130-A-G		not specified	Uncertain significance (Mar 25, 2024)
19-43966143-A-G		not specified	Likely benign (Jun 23, 2021)
19-43966165-G-A		not specified	Uncertain significance (Jun 03, 2024)
19-43966224-T-G		not specified	Uncertain significance (Dec 06, 2021)
19-43966239-G-T		not specified	Uncertain significance (Jun 29, 2023)
19-43966245-A-C		not specified	Uncertain significance (Dec 28, 2022)
19-43966289-T-C		not specified	Uncertain significance (Mar 20, 2023)
19-43966322-A-G		not specified	Uncertain significance (Jun 21, 2023)
19-43966324-A-T		not specified	Uncertain significance (Mar 15, 2024)
19-43966416-C-A		not specified	Uncertain significance (Jan 30, 2024)
19-43966442-A-C		not specified	Uncertain significance (Dec 18, 2023)
19-43966460-C-T		not specified	Uncertain significance (Sep 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF221	protein_coding	protein_coding	ENST00000251269	4	16487

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000764	0.550	125722	0	18	125740	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.417	331	310	1.07	0.0000145	4117
Missense in Polyphen		91	93.437	0.97392		1330
Synonymous	-0.0568	109	108	1.01	0.00000497	1058
Loss of Function	0.382	5	6.01	0.832	3.39e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000703	0.0000703
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0765

Intolerance Scores

• loftool: 0.894
• rvis_EVS: 2.69
• rvis_percentile_EVS: 98.89

Haploinsufficiency Scores

• pHI: 0.0814
• hipred: N
• hipred_score: 0.112
• ghis: 0.396

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

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