ZNF514

zinc finger protein 514, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 2:95122087-95165668

Links

ENSG00000144026 ∙ NCBI:84874 ∙ ∙ HGNC:25894 ∙ Uniprot:Q96K75 ∙ 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 ZNF514 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF514 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			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	0

Variants in ZNF514

This is a list of pathogenic ClinVar variants found in the ZNF514 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-95149340-G-A		not specified	Uncertain significance (Apr 21, 2022)
2-95149370-T-C		not specified	Uncertain significance (Dec 08, 2023)
2-95149401-G-A		not specified	Uncertain significance (Jun 19, 2024)
2-95149431-C-T		not specified	Uncertain significance (Jan 04, 2024)
2-95149444-A-C		not specified	Uncertain significance (May 14, 2024)
2-95149462-C-A		not specified	Uncertain significance (Jun 27, 2022)
2-95149532-C-T		not specified	Uncertain significance (Oct 26, 2022)
2-95149632-C-G		not specified	Uncertain significance (Jun 21, 2023)
2-95149775-C-T		not specified	Uncertain significance (May 11, 2022)
2-95149823-C-T		not specified	Uncertain significance (Dec 28, 2022)
2-95149840-G-C		not specified	Uncertain significance (Sep 26, 2023)
2-95149913-C-A		not specified	Uncertain significance (Jan 30, 2024)
2-95149964-A-G		not specified	Likely benign (Nov 09, 2022)
2-95149965-T-A		not specified	Uncertain significance (Sep 26, 2023)
2-95149965-T-G		not specified	Uncertain significance (Jan 27, 2022)
2-95149988-A-G		not specified	Uncertain significance (Nov 10, 2022)
2-95150028-A-G		not specified	Uncertain significance (Apr 04, 2024)
2-95150033-T-C		not specified	Uncertain significance (Oct 04, 2022)
2-95150037-C-T		not specified	Uncertain significance (Jan 11, 2023)
2-95150072-G-A		not specified	Uncertain significance (Jan 23, 2024)
2-95150101-T-C		not specified	Uncertain significance (Nov 01, 2022)
2-95150136-A-C		not specified	Uncertain significance (Apr 27, 2022)
2-95150153-G-A		not specified	Uncertain significance (Jan 18, 2022)
2-95150154-A-G		not specified	Uncertain significance (Feb 14, 2023)
2-95150220-T-G		not specified	Uncertain significance (Jan 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF514	protein_coding	protein_coding	ENST00000295208	3	18084

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.04e-10	0.0893	125613	0	135	125748	0.000537

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.111	208	204	1.02	0.00000944	2627
Missense in Polyphen		44	57.111	0.77043		718
Synonymous	-0.940	85	74.7	1.14	0.00000352	719
Loss of Function	0.243	16	17.1	0.936	9.09e-7	224

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00148	0.00147
Ashkenazi Jewish	0.00487	0.00487
East Asian	0.000381	0.000381
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000273	0.000273
Middle Eastern	0.000381	0.000381
South Asian	0.000163	0.000163
Other	0.000653	0.000652

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: 0.841
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.2

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.148
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.909

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