ZNF517

zinc finger protein 517, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 8:144798876-144811169

Links

ENSG00000197363 ∙ NCBI:340385 ∙ ∙ HGNC:27984 ∙ Uniprot:Q6ZMY9 ∙ 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 ZNF517 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF517 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			45	1		46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	1	0

Variants in ZNF517

This is a list of pathogenic ClinVar variants found in the ZNF517 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-144803692-A-C		not specified	Uncertain significance (Jul 20, 2021)
8-144803699-T-G		not specified	Uncertain significance (Aug 03, 2022)
8-144803701-G-T		not specified	Uncertain significance (Mar 23, 2022)
8-144803708-A-G		not specified	Uncertain significance (Jan 24, 2024)
8-144804142-C-G		not specified	Uncertain significance (Dec 27, 2023)
8-144804155-C-A		not specified	Uncertain significance (Sep 01, 2021)
8-144804217-G-A		not specified	Uncertain significance (May 23, 2023)
8-144807198-G-C		not specified	Uncertain significance (Feb 17, 2024)
8-144807208-G-A		not specified	Uncertain significance (Aug 16, 2021)
8-144807221-C-G		not specified	Uncertain significance (Jul 26, 2021)
8-144807301-G-A		not specified	Uncertain significance (Aug 21, 2023)
8-144807362-C-T		not specified	Uncertain significance (Feb 02, 2024)
8-144807368-C-T		not specified	Uncertain significance (May 23, 2024)
8-144807377-G-A		not specified	Uncertain significance (May 16, 2022)
8-144807385-A-C		not specified	Uncertain significance (Dec 21, 2022)
8-144807388-G-A		not specified	Uncertain significance (Sep 15, 2021)
8-144807389-C-T		not specified	Uncertain significance (Sep 13, 2023)
8-144807424-C-T		not specified	Uncertain significance (May 04, 2023)
8-144807431-G-A		not specified	Uncertain significance (Nov 18, 2022)
8-144807446-G-C		not specified	Uncertain significance (Jan 23, 2023)
8-144807455-G-T		not specified	Uncertain significance (Nov 22, 2021)
8-144807457-G-C		not specified	Uncertain significance (Jan 23, 2023)
8-144807476-G-C		not specified	Uncertain significance (Jun 18, 2021)
8-144807505-A-G		not specified	Likely benign (Apr 20, 2023)
8-144807531-C-G		not specified	Uncertain significance (Mar 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF517	protein_coding	protein_coding	ENST00000359971	4	12294

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000146	0.674	125668	0	78	125746	0.000310

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0529	305	308	0.992	0.0000217	3104
Missense in Polyphen		42	38.364	1.0948		308
Synonymous	-1.07	163	147	1.11	0.0000115	1004
Loss of Function	0.844	7	9.86	0.710	4.20e-7	111

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000832	0.000832
Ashkenazi Jewish	0.00	0.00
East Asian	0.00265	0.00245
Finnish	0.00	0.00
European (Non-Finnish)	0.0000871	0.0000791
Middle Eastern	0.00265	0.00245
South Asian	0.000102	0.0000980
Other	0.000519	0.000489

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

• loftool: 0.630
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.92

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.146
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.271

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