ZNF211

zinc finger protein 211, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57630395-57644041

Links

ENSG00000121417 ∙ ∙ OMIM:601856 ∙ HGNC:13003 ∙ Uniprot:Q13398 ∙ 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 ZNF211 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF211 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			30	1		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	1	0

Variants in ZNF211

This is a list of pathogenic ClinVar variants found in the ZNF211 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57633350-C-T		not specified	Uncertain significance (Jul 26, 2024)
19-57633417-C-T		not specified	Uncertain significance (Nov 26, 2024)
19-57634049-C-G		not specified	Likely benign (May 24, 2024)
19-57634719-G-A		not specified	Uncertain significance (Aug 19, 2024)
19-57634738-C-T		not specified	Uncertain significance (Oct 07, 2024)
19-57640704-G-A		not specified	Uncertain significance (Sep 26, 2022)
19-57640736-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-57640766-G-T		not specified	Uncertain significance (Dec 27, 2023)
19-57640779-G-A		not specified	Uncertain significance (Dec 14, 2021)
19-57640788-A-G		not specified	Uncertain significance (Oct 30, 2023)
19-57640818-C-T		not specified	Uncertain significance (Oct 26, 2024)
19-57640856-C-T		not specified	Uncertain significance (Mar 01, 2024)
19-57640861-G-C		not specified	Uncertain significance (Jun 27, 2023)
19-57640868-C-G		not specified	Uncertain significance (Sep 08, 2023)
19-57640980-G-T		not specified	Uncertain significance (May 02, 2024)
19-57641036-C-G		not specified	Uncertain significance (Oct 03, 2022)
19-57641054-A-G		not specified	Likely benign (Apr 19, 2023)
19-57641078-A-G		not specified	Uncertain significance (Jan 22, 2024)
19-57641139-G-C		not specified	Uncertain significance (Aug 21, 2023)
19-57641157-G-A		not specified	Uncertain significance (Oct 14, 2023)
19-57641183-A-G		not specified	Likely benign (Aug 12, 2024)
19-57641190-G-A		not specified	Uncertain significance (Dec 08, 2023)
19-57641210-G-A		not specified	Uncertain significance (Aug 20, 2024)
19-57641233-A-T		not specified	Uncertain significance (Aug 28, 2023)
19-57641247-A-C		not specified	Uncertain significance (Apr 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF211	protein_coding	protein_coding	ENST00000299871	5	12387

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.98e-11	0.0309	125710	0	38	125748	0.000151

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.336	311	328	0.948	0.0000160	4186
Missense in Polyphen		68	95.429	0.71257		1301
Synonymous	0.148	119	121	0.983	0.00000655	1128
Loss of Function	-0.363	15	13.6	1.11	6.66e-7	168

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000181
Ashkenazi Jewish	0.00	0.00
East Asian	0.000111	0.000109
Finnish	0.000370	0.000323
European (Non-Finnish)	0.000178	0.000167
Middle Eastern	0.000111	0.000109
South Asian	0.000208	0.000196
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)

Recessive Scores

• pRec: 0.0947

Intolerance Scores

• loftool: 0.977
• rvis_EVS: 0.18
• rvis_percentile_EVS: 66.13

Haploinsufficiency Scores

• pHI: 0.220
• hipred: N
• hipred_score: 0.112
• ghis: 0.505

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.197

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