ZNF721

zinc finger protein 721, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 4:425815-499156

Links

ENSG00000182903 ∙ NCBI:170960 ∙ ∙ HGNC:29425 ∙ Uniprot:Q8TF20 ∙ 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 ZNF721 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF721 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				2	1	3
missense			71	5		76
nonsense						0
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				3	2	5
Total	0	0	71	10	4

Variants in ZNF721

This is a list of pathogenic ClinVar variants found in the ZNF721 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-441704-T-C		not specified	Uncertain significance (Jul 08, 2021)
4-441739-C-T		not specified	Uncertain significance (Sep 23, 2023)
4-441751-CAG-C			Benign (Mar 02, 2018)
4-441780-C-A		not specified	Uncertain significance (Jan 03, 2024)
4-441780-C-T		not specified	Likely benign (Aug 17, 2021)
4-441798-T-C		not specified	Uncertain significance (Nov 07, 2022)
4-441802-C-T		not specified	Uncertain significance (Oct 05, 2023)
4-441807-T-G		not specified	Uncertain significance (Jul 20, 2021)
4-441809-A-C		not specified	Uncertain significance (Jul 08, 2022)
4-441819-T-C		not specified	Uncertain significance (Jul 06, 2021)
4-441822-G-A		not specified	Uncertain significance (Sep 17, 2021)
4-441987-T-C		not specified	Uncertain significance (May 13, 2024)
4-441993-G-T		not specified	Uncertain significance (Apr 22, 2022)
4-442035-C-T		not specified	Uncertain significance (May 20, 2024)
4-442114-C-G		not specified	Uncertain significance (Oct 26, 2022)
4-442192-C-T		not specified	Uncertain significance (Nov 17, 2022)
4-442201-T-C		not specified	Uncertain significance (Sep 27, 2021)
4-442212-A-G		EBV-positive nodal T- and NK-cell lymphoma	Likely benign (-)
4-442216-T-C		not specified	Uncertain significance (Jan 31, 2024)
4-442229-A-C		not specified	Uncertain significance (Jan 17, 2024)
4-442235-C-A		not specified	Uncertain significance (Jan 24, 2024)
4-442244-G-A			Benign (Dec 13, 2017)
4-442250-G-T		not specified	Uncertain significance (Oct 10, 2023)
4-442279-G-T		not specified	Uncertain significance (May 05, 2023)
4-442281-T-G		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF721	protein_coding	protein_coding	ENST00000511833	2	73342

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0948	0.590	123695	0	1	123696	0.00000404

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.77	578	470	1.23	0.0000229	6087
Missense in Polyphen		173	148.37	1.166		1981
Synonymous	-2.41	214	174	1.23	0.00000908	1633
Loss of Function	0.0628	1	1.07	0.934	4.55e-8	12

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000627	0.0000627
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

• loftool: 0.837
• rvis_EVS: 0.43
• rvis_percentile_EVS: 77.35

Haploinsufficiency Scores

• pHI: 0.266
• hipred: N
• hipred_score: 0.112
• ghis: 0.512

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.172

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