ZNF17

zinc finger protein 17, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57411161-57421934

Links

ENSG00000186272 ∙ NCBI:7565 ∙ OMIM:619254 ∙ HGNC:12958 ∙ Uniprot:P17021 ∙ 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 ZNF17 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF17 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			54	1		55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	55	3	1

Variants in ZNF17

This is a list of pathogenic ClinVar variants found in the ZNF17 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57411395-A-G		not specified	Uncertain significance (Feb 28, 2023)
19-57417915-T-G		not specified	Uncertain significance (Aug 11, 2022)
19-57417933-G-A		not specified	Uncertain significance (Aug 15, 2023)
19-57417966-A-G		not specified	Uncertain significance (Nov 26, 2024)
19-57417978-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-57417982-A-G		not specified	Uncertain significance (Mar 07, 2025)
19-57417999-G-A		not specified	Uncertain significance (Dec 08, 2021)
19-57418002-G-A		not specified	Uncertain significance (Dec 06, 2024)
19-57418006-T-C		not specified	Uncertain significance (Sep 13, 2022)
19-57418035-G-T		not specified	Likely benign (Feb 07, 2025)
19-57419686-C-T		not specified	Uncertain significance (May 27, 2022)
19-57419817-C-T		not specified	Uncertain significance (Mar 04, 2024)
19-57419827-A-G		not specified	Uncertain significance (Mar 20, 2023)
19-57419835-C-G		not specified	Uncertain significance (Dec 21, 2023)
19-57419851-A-G		not specified	Uncertain significance (Aug 12, 2021)
19-57419915-C-T			Benign (Apr 04, 2018)
19-57419926-G-A		not specified	Uncertain significance (Sep 03, 2024)
19-57419945-G-T		not specified	Uncertain significance (Sep 09, 2024)
19-57419975-T-G		not specified	Uncertain significance (Dec 09, 2024)
19-57420043-A-G		ZNF17-related disorder	Likely benign (Jun 10, 2020)
19-57420046-G-A		not specified	Uncertain significance (Jan 22, 2024)
19-57420074-A-G			Likely benign (Nov 01, 2022)
19-57420132-G-C		not specified	Uncertain significance (Mar 20, 2023)
19-57420189-C-G		not specified	Uncertain significance (Apr 19, 2024)
19-57420207-A-C		not specified	Uncertain significance (Jan 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF17	protein_coding	protein_coding	ENST00000601808	3	10777

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.235	0.655	125592	0	21	125613	0.0000836

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.481	323	348	0.927	0.0000167	4464
Missense in Polyphen		86	102.94	0.83541		1310
Synonymous	0.415	111	117	0.951	0.00000549	1155
Loss of Function	1.15	1	3.22	0.311	1.37e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00124	0.00124
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000881	0.00000880
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.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• rvis_EVS: -0.2
• rvis_percentile_EVS: 39.17

Haploinsufficiency Scores

• pHI: 0.0723
• hipred: N
• hipred_score: 0.112
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0861

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