ZNF414

zinc finger protein 414, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:8509677-8514167

Links

ENSG00000133250 ∙ NCBI:84330 ∙ ∙ HGNC:20630 ∙ Uniprot:Q96IQ9 ∙ 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 ZNF414 gene.

• Inborn genetic diseases (25 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF414 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			23	2		25
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	4	0

Variants in ZNF414

This is a list of pathogenic ClinVar variants found in the ZNF414 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-8510707-A-C		not specified	Uncertain significance (May 24, 2023)
19-8510719-C-A		not specified	Uncertain significance (Oct 04, 2022)
19-8510734-G-A		not specified	Uncertain significance (Jul 20, 2021)
19-8510850-CCCGCGGGGGCGTCGGGGCGCGGCGGCCCGGCCGCGGGGG-C			Likely benign (Dec 01, 2022)
19-8510886-G-A		not specified	Uncertain significance (Aug 12, 2021)
19-8510896-G-C		not specified	Uncertain significance (Dec 11, 2023)
19-8510958-G-T		not specified	Uncertain significance (Dec 06, 2022)
19-8511489-A-C		not specified	Uncertain significance (Oct 04, 2022)
19-8511682-C-T		not specified	Uncertain significance (Feb 27, 2023)
19-8511709-G-A		not specified	Uncertain significance (Jan 22, 2024)
19-8511734-A-G		not specified	Uncertain significance (Oct 06, 2022)
19-8511746-G-T		not specified	Uncertain significance (Feb 10, 2023)
19-8511787-G-C		not specified	Uncertain significance (Jul 11, 2023)
19-8511820-G-A		not specified	Uncertain significance (Dec 21, 2022)
19-8511832-G-C		not specified	Uncertain significance (Aug 02, 2023)
19-8511890-G-T		not specified	Likely benign (Sep 15, 2022)
19-8511931-G-T		not specified	Uncertain significance (Dec 18, 2023)
19-8511941-G-C		not specified	Uncertain significance (Feb 28, 2024)
19-8512417-T-C		not specified	Uncertain significance (Feb 10, 2022)
19-8512481-G-A		not specified	Uncertain significance (Mar 02, 2023)
19-8512492-C-T		not specified	Uncertain significance (May 06, 2022)
19-8512657-C-T		not specified	Uncertain significance (Dec 06, 2022)
19-8512677-G-C		not specified	Uncertain significance (Jul 05, 2023)
19-8512693-G-C		not specified	Uncertain significance (Dec 18, 2023)
19-8513041-G-A		not specified	Uncertain significance (Mar 31, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF414	protein_coding	protein_coding	ENST00000393927	8	3587

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0551	0.928	125702	0	5	125707	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.30	121	168	0.719	0.0000113	2384
Missense in Polyphen		50	68.633	0.72851		941
Synonymous	1.26	63	77.1	0.817	0.00000608	841
Loss of Function	2.07	4	11.6	0.344	6.12e-7	172

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000382	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.0892

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.146
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.921

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp414

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;protein binding;metal ion binding