ZNF214

zinc finger protein 214, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 11:6997085-7020346

Links

ENSG00000149050 ∙ NCBI:7761 ∙ OMIM:605015 ∙ HGNC:13006 ∙ Uniprot:Q9UL59 ∙ 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 ZNF214 gene.

• not_specified (74 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF214 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013249.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			70	4		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF214	protein_coding	protein_coding	ENST00000278314	2	21051

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.11e-17	0.00265	125531	1	196	125728	0.000784

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.587	342	313	1.09	0.0000155	4057
Missense in Polyphen		113	95.119	1.188		1265
Synonymous	-0.980	115	102	1.12	0.00000489	1024
Loss of Function	-0.332	25	23.3	1.07	0.00000113	327

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00313	0.00309
Ashkenazi Jewish	0.00497	0.00487
East Asian	0.000381	0.000381
Finnish	0.0000994	0.0000924
European (Non-Finnish)	0.000337	0.000325
Middle Eastern	0.000381	0.000381
South Asian	0.000796	0.000784
Other	0.00100	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0924

Intolerance Scores

• loftool: 0.777
• rvis_EVS: 2.09
• rvis_percentile_EVS: 97.85

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.112
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0518

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;DNA-binding transcription factor activity;zinc ion binding