ZNF14

zinc finger protein 14, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:19710472-19733112

Links

ENSG00000105708 ∙ NCBI:7561 ∙ OMIM:194556 ∙ HGNC:12924 ∙ Uniprot:P17017 ∙ 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 ZNF14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF14 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			53	2		55
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	53	2	0

Variants in ZNF14

This is a list of pathogenic ClinVar variants found in the ZNF14 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-19711368-A-C		not specified	Uncertain significance (Feb 19, 2025)
19-19711428-T-C		not specified	Uncertain significance (Jan 26, 2025)
19-19711482-C-T		not specified	Uncertain significance (Nov 28, 2023)
19-19711491-C-G		not specified	Uncertain significance (Jul 27, 2024)
19-19711497-G-T		not specified	Uncertain significance (Feb 17, 2022)
19-19711557-C-A		not specified	Uncertain significance (Sep 22, 2022)
19-19711613-C-A		not specified	Uncertain significance (Nov 27, 2024)
19-19711613-C-G		not specified	Uncertain significance (Nov 07, 2024)
19-19711656-C-T		not specified	Uncertain significance (Jan 10, 2023)
19-19711708-G-C		not specified	Uncertain significance (Aug 28, 2024)
19-19711725-C-T		not specified	Uncertain significance (Feb 14, 2023)
19-19711785-C-T		not specified	Uncertain significance (Dec 09, 2024)
19-19711809-C-T		not specified	Uncertain significance (May 16, 2024)
19-19711857-T-G		not specified	Uncertain significance (Dec 31, 2024)
19-19711870-C-T		not specified	Uncertain significance (Mar 31, 2022)
19-19711893-C-T		not specified	Uncertain significance (May 23, 2024)
19-19711903-T-C		not specified	Uncertain significance (May 28, 2024)
19-19711941-T-C		not specified	Uncertain significance (Jan 09, 2023)
19-19712001-G-T		not specified	Uncertain significance (May 13, 2024)
19-19712011-A-G		not specified	Uncertain significance (Jul 14, 2024)
19-19712181-C-T		not specified	Likely benign (Jun 03, 2022)
19-19712269-T-C		not specified	Uncertain significance (Nov 30, 2022)
19-19712311-C-T		not specified	Uncertain significance (Jan 24, 2025)
19-19712313-C-T		not specified	Likely benign (Sep 01, 2021)
19-19712325-G-A		not specified	Uncertain significance (Jul 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF14	protein_coding	protein_coding	ENST00000344099	4	22627

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.104	0.784	125674	0	2	125676	0.00000796

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.358	322	341	0.945	0.0000167	4275
Missense in Polyphen		161	173.1	0.93008		2170
Synonymous	-0.165	114	112	1.02	0.00000531	1105
Loss of Function	1.23	2	4.96	0.404	2.10e-7	59

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000790	0.0000653
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;Validated nuclear estrogen receptor beta network (Consensus)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.798
• rvis_EVS: -1
• rvis_percentile_EVS: 8.37

Haploinsufficiency Scores

• pHI: 0.182
• hipred: N
• hipred_score: 0.112
• ghis: 0.597

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.244

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp976

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