ZNF114

zinc finger protein 114, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:48270081-48287608

Links

ENSG00000178150 ∙ NCBI:163071 ∙ OMIM:603996 ∙ HGNC:12894 ∙ Uniprot:Q8NC26 ∙ 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 ZNF114 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF114 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					1	1
missense			20		1	21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	2

Variants in ZNF114

This is a list of pathogenic ClinVar variants found in the ZNF114 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-48282392-G-A		not specified	Uncertain significance (Sep 29, 2022)
19-48285790-G-A		not specified	Uncertain significance (Oct 18, 2021)
19-48285883-A-G		not specified	Uncertain significance (Mar 18, 2024)
19-48285952-G-A		not specified	Uncertain significance (Dec 20, 2023)
19-48286035-G-C		not specified	Uncertain significance (Sep 07, 2022)
19-48286060-A-G		not specified	Uncertain significance (Jul 11, 2023)
19-48286082-G-A		not specified	Uncertain significance (Jul 19, 2023)
19-48286147-G-A		not specified	Uncertain significance (Nov 17, 2022)
19-48286228-G-A		not specified	Uncertain significance (Jun 07, 2024)
19-48286244-T-C			Benign (Apr 04, 2018)
19-48286313-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-48286322-A-G		not specified	Uncertain significance (Nov 09, 2021)
19-48286338-A-G			Benign (Apr 04, 2018)
19-48286417-A-G		not specified	Likely benign (May 02, 2024)
19-48286436-C-T		not specified	Uncertain significance (Feb 13, 2024)
19-48286445-C-T		not specified	Uncertain significance (Dec 13, 2022)
19-48286464-A-C		not specified	Uncertain significance (Mar 31, 2022)
19-48286558-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-48286643-C-G		not specified	Uncertain significance (Nov 17, 2022)
19-48286661-A-G		not specified	Uncertain significance (Oct 27, 2022)
19-48286720-T-C		not specified	Uncertain significance (Apr 26, 2024)
19-48286736-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-48286747-A-G		not specified	Uncertain significance (Apr 18, 2023)
19-48286756-C-T		not specified	Uncertain significance (Jan 23, 2024)
19-48286757-A-G		not specified	Uncertain significance (Feb 09, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF114	protein_coding	protein_coding	ENST00000595607	3	115291

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00672	0.536	125729	0	16	125745	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.587	212	237	0.893	0.0000128	2782
Missense in Polyphen		16	16.931	0.94502		156
Synonymous	0.856	82	92.5	0.887	0.00000594	757
Loss of Function	0.0355	3	3.07	0.978	1.31e-7	32

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000132	0.000132
Middle Eastern	0.00	0.00
South Asian	0.0000327	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: 0.898
• rvis_EVS: -0.2
• rvis_percentile_EVS: 38.98

Haploinsufficiency Scores

• pHI: 0.393
• hipred: N
• hipred_score: 0.123
• ghis: 0.505

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.292

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;biological_process
• Cellular component: nucleus;extracellular exosome
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;protein binding;identical protein binding;metal ion binding