ZNF852

zinc finger protein 852, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 3:44491766-44510636

Links

ENSG00000178917 ∙ NCBI:285346 ∙ ∙ HGNC:27713 ∙ Uniprot:Q6ZMS4 ∙ 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 ZNF852 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF852 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	0	1	0

Variants in ZNF852

This is a list of pathogenic ClinVar variants found in the ZNF852 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-44499499-G-A			Likely benign (Mar 01, 2023)
3-44499601-G-A			Likely benign (Feb 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF852	protein_coding	protein_coding	ENST00000436261	3	11667

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.90e-9	0.383	125586	0	157	125743	0.000624

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00236	289	289	1.00	0.0000140	3628
Missense in Polyphen		94	92.599	1.0151		1197
Synonymous	0.175	101	103	0.978	0.00000517	953
Loss of Function	0.868	15	19.1	0.786	0.00000108	264

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000618	0.000605
Ashkenazi Jewish	0.00449	0.00447
East Asian	0.0000545	0.0000544
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000611	0.000607
Middle Eastern	0.0000545	0.0000544
South Asian	0.00101	0.000752
Other	0.000657	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.519

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

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;nucleic acid binding;metal ion binding