ZNF217

zinc finger protein 217, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 20:53567071-53609907

Links

ENSG00000171940 ∙ NCBI:7764 ∙ OMIM:602967 ∙ HGNC:13009 ∙ Uniprot:O75362 ∙ 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 ZNF217 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF217 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				6	7	13
missense			49	3		52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	49	9	7

Variants in ZNF217

This is a list of pathogenic ClinVar variants found in the ZNF217 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-53571809-G-T		not specified	Uncertain significance (Feb 12, 2024)
20-53571837-T-A			Benign (Jun 05, 2018)
20-53571842-C-G		not specified	Uncertain significance (Dec 12, 2023)
20-53571850-T-C		not specified	Uncertain significance (Dec 18, 2023)
20-53575735-G-A		not specified	Uncertain significance (Oct 10, 2023)
20-53575750-G-A		not specified	Uncertain significance (Apr 26, 2023)
20-53575756-C-A		not specified	Uncertain significance (Jan 04, 2024)
20-53575758-A-G			Likely benign (May 14, 2018)
20-53575795-T-C		not specified	Uncertain significance (Dec 11, 2023)
20-53575823-G-A		not specified	Uncertain significance (Dec 03, 2021)
20-53575835-C-T		not specified	Uncertain significance (Mar 30, 2024)
20-53575878-C-T			Likely benign (Sep 01, 2022)
20-53575896-C-T			Likely benign (Mar 29, 2018)
20-53575914-G-A			Benign (Jun 05, 2018)
20-53575980-G-T		not specified	Uncertain significance (Jul 19, 2023)
20-53575995-G-A			Likely benign (Sep 01, 2022)
20-53576099-C-T		not specified	Uncertain significance (Oct 04, 2022)
20-53576109-G-C			Benign (Dec 31, 2019)
20-53576128-T-C		not specified	Uncertain significance (Dec 22, 2023)
20-53576151-G-T			Benign (Dec 31, 2019)
20-53576177-G-T		not specified	Uncertain significance (Dec 11, 2023)
20-53576225-C-A		not specified	Uncertain significance (Apr 22, 2024)
20-53576250-T-C			Benign (Dec 31, 2019)
20-53576266-G-A		not specified	Uncertain significance (Sep 14, 2022)
20-53576345-C-T		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF217	protein_coding	protein_coding	ENST00000371471	4	42843

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000542	125744	0	4	125748	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.03	523	594	0.881	0.0000357	6930
Missense in Polyphen		81	177.32	0.45681		2179
Synonymous	-1.89	287	249	1.15	0.0000187	2027
Loss of Function	5.10	1	32.2	0.0310	0.00000176	438

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000292	0.0000292
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds to the promoters of target genes and functions as repressor. Promotes cell proliferation and antagonizes cell death. Promotes phosphorylation of AKT1 at 'Ser-473'. {ECO:0000269|PubMed:16203743, ECO:0000269|PubMed:16940172, ECO:0000269|PubMed:17259635, ECO:0000269|PubMed:18625718}.

Recessive Scores

• pRec: 0.205

Intolerance Scores

• loftool: 0.204
• rvis_EVS: -0.25
• rvis_percentile_EVS: 34.99

Haploinsufficiency Scores

• pHI: 0.475
• hipred: Y
• hipred_score: 0.594
• ghis: 0.513

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.983

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Zfp217

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;transcription, DNA-templated;regulation of transcription, DNA-templated;negative regulation of transcription, DNA-templated
• Cellular component: histone deacetylase complex;nucleoplasm;mitochondrion;nuclear speck
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;protein binding;transcription regulatory region DNA binding;metal ion binding