ZNF716

zinc finger protein 716, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:57450177-57473559

Links

ENSG00000182111 ∙ NCBI:441234 ∙ ∙ HGNC:32458 ∙ Uniprot:A6NP11 ∙ 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 ZNF716 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF716 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		2
missense			30	2		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	4	0

Variants in ZNF716

This is a list of pathogenic ClinVar variants found in the ZNF716 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-57450314-G-A		not specified	Uncertain significance (Oct 26, 2022)
7-57450324-A-C		not specified	Uncertain significance (Jul 06, 2021)
7-57462552-G-A			Likely benign (May 01, 2022)
7-57462563-A-G		not specified	Uncertain significance (Oct 05, 2023)
7-57462566-A-G		not specified	Uncertain significance (Oct 12, 2021)
7-57463081-G-A		not specified	Uncertain significance (Sep 22, 2022)
7-57463129-C-G		not specified	Uncertain significance (Nov 14, 2023)
7-57468744-C-A		not specified	Uncertain significance (Oct 05, 2023)
7-57468762-C-A		not specified	Uncertain significance (Feb 05, 2024)
7-57468953-A-C		not specified	Uncertain significance (Aug 02, 2022)
7-57469011-C-T		not specified	Uncertain significance (Mar 31, 2024)
7-57469050-C-G		not specified	Uncertain significance (Jul 14, 2022)
7-57469057-G-A		not specified	Likely benign (Jul 09, 2021)
7-57469082-T-A		not specified	Uncertain significance (Feb 10, 2022)
7-57469093-A-G		not specified	Uncertain significance (May 14, 2024)
7-57469094-G-T		not specified	Likely benign (Jun 17, 2024)
7-57469110-G-A		not specified	Uncertain significance (Oct 17, 2023)
7-57469129-A-G		not specified	Uncertain significance (Jun 18, 2021)
7-57469174-A-G		not specified	Uncertain significance (Jul 12, 2022)
7-57469186-G-C		not specified	Uncertain significance (Nov 09, 2022)
7-57469198-G-A		not specified	Uncertain significance (Jul 22, 2022)
7-57469236-C-A		not specified	Uncertain significance (Dec 14, 2023)
7-57469265-T-G			Likely benign (Mar 01, 2022)
7-57469340-G-T		not specified	Uncertain significance (Dec 11, 2023)
7-57469344-C-G		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF716	protein_coding	protein_coding	ENST00000420713	4	23370

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000139	0.126	125281	0	15	125296	0.0000599

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.399	264	246	1.07	0.0000113	3225
Missense in Polyphen		64	66.66	0.9601		938
Synonymous	-1.17	101	87.2	1.16	0.00000401	869
Loss of Function	-0.618	8	6.32	1.27	3.53e-7	68

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000122
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000797	0.0000793
Middle Eastern	0.000110	0.000109
South Asian	0.0000328	0.0000327
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)

Intolerance Scores

• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.62

Haploinsufficiency Scores

• pHI: 0.0727
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.111

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