ZNF519

zinc finger protein 519, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 18:14057456-14132490

Links

ENSG00000175322 ∙ NCBI:162655 ∙ ∙ HGNC:30574 ∙ Uniprot:Q8TB69 ∙ 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 ZNF519 gene.

• Inborn genetic diseases (23 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF519 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	1

Variants in ZNF519

This is a list of pathogenic ClinVar variants found in the ZNF519 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-14105063-A-G		not specified	Uncertain significance (Jan 16, 2024)
18-14105111-G-C		not specified	Uncertain significance (Jan 24, 2024)
18-14105126-C-T		not specified	Uncertain significance (Sep 29, 2022)
18-14105147-A-T		not specified	Uncertain significance (Jan 11, 2023)
18-14105166-CTTCTCTCCAGTATGGATTCTTTGATGTCGAGTAAGGTGTGAGCCCCTGTTAAAGGCTTTGCCACATTCTTTACATTTGAAGTGT-C			Benign (Dec 31, 2019)
18-14105180-G-A		not specified	Uncertain significance (Nov 17, 2023)
18-14105182-A-G		not specified	Uncertain significance (May 31, 2023)
18-14105195-G-C		not specified	Uncertain significance (Jul 06, 2021)
18-14105417-G-C		not specified	Uncertain significance (Nov 21, 2022)
18-14105426-C-T		not specified	Uncertain significance (Jan 06, 2023)
18-14105437-C-A		not specified	Uncertain significance (Aug 16, 2021)
18-14105675-C-T		not specified	Uncertain significance (Oct 30, 2023)
18-14105710-C-A		not specified	Uncertain significance (Oct 12, 2021)
18-14105731-C-T		not specified	Uncertain significance (Oct 02, 2023)
18-14105738-T-C		not specified	Uncertain significance (Dec 03, 2021)
18-14105773-T-C		not specified	Uncertain significance (Aug 01, 2022)
18-14105845-A-G		not specified	Uncertain significance (Jul 20, 2022)
18-14105914-T-C		not specified	Uncertain significance (May 08, 2023)
18-14106017-G-T		not specified	Uncertain significance (Jun 07, 2023)
18-14106052-T-C		not specified	Uncertain significance (Oct 12, 2022)
18-14106063-C-A		not specified	Uncertain significance (Oct 12, 2022)
18-14106108-T-G		not specified	Uncertain significance (Feb 28, 2023)
18-14106254-C-G		not specified	Uncertain significance (Apr 11, 2023)
18-14106330-T-A		not specified	Uncertain significance (Jun 11, 2021)
18-14124370-T-C		not specified	Uncertain significance (Feb 14, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF519	protein_coding	protein_coding	ENST00000590202	3	75034

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00757	0.562	125735	0	8	125743	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.780	302	266	1.13	0.0000121	3589
Missense in Polyphen		33	34.464	0.95753		457
Synonymous	1.12	77	90.5	0.851	0.00000417	908
Loss of Function	0.135	3	3.26	0.919	1.40e-7	36

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.0000546	0.0000544
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

• loftool: 0.717
• rvis_EVS: 1.58
• rvis_percentile_EVS: 95.75

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.112
• ghis: 0.438

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.983

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp386

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