ZNF284

zinc finger protein 284, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44072159-44089613

Links

ENSG00000186026 ∙ NCBI:342909 ∙ ∙ HGNC:13078 ∙ Uniprot:Q2VY69 ∙ 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 ZNF284 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF284 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			45	3		48
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	3	0

Variants in ZNF284

This is a list of pathogenic ClinVar variants found in the ZNF284 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44076397-T-C		not specified	Uncertain significance (Oct 09, 2024)
19-44076402-A-G		not specified	Uncertain significance (Feb 23, 2023)
19-44081022-T-G		not specified	Uncertain significance (Jan 30, 2024)
19-44081117-A-G		not specified	Uncertain significance (Jul 19, 2023)
19-44082077-G-C		not specified	Uncertain significance (Aug 02, 2022)
19-44085746-C-A		not specified	Uncertain significance (May 31, 2023)
19-44085756-G-A		not specified	Uncertain significance (Jan 01, 2025)
19-44085759-C-G		not specified	Uncertain significance (Jan 09, 2024)
19-44085772-G-T		not specified	Uncertain significance (Jan 10, 2025)
19-44085782-C-A		not specified	Uncertain significance (Oct 22, 2021)
19-44085807-A-G		not specified	Uncertain significance (Nov 10, 2024)
19-44085821-C-G		not specified	Uncertain significance (Nov 16, 2021)
19-44085933-G-A		not specified	Uncertain significance (May 17, 2023)
19-44085959-A-G		not specified	Uncertain significance (Nov 22, 2024)
19-44085983-C-T		not specified	Uncertain significance (Aug 03, 2022)
19-44086043-G-C		not specified	Uncertain significance (Jan 15, 2025)
19-44086046-C-A		not specified	Uncertain significance (Sep 26, 2024)
19-44086082-C-T		not specified	Uncertain significance (Feb 16, 2023)
19-44086086-A-G		not specified	Uncertain significance (Mar 06, 2025)
19-44086101-G-A		not specified	Uncertain significance (Nov 01, 2022)
19-44086182-A-G		not specified	Uncertain significance (Feb 22, 2025)
19-44086184-T-G		not specified	Uncertain significance (Oct 09, 2024)
19-44086218-A-G		not specified	Uncertain significance (Jun 11, 2021)
19-44086236-A-C		not specified	Uncertain significance (Jul 19, 2023)
19-44086265-G-C		not specified	Uncertain significance (Feb 15, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF284	protein_coding	protein_coding	ENST00000421176	4	17470

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000108	0.381	125729	0	17	125746	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.213	327	316	1.03	0.0000154	3975
Missense in Polyphen		103	98.569	1.045		1320
Synonymous	0.675	100	109	0.918	0.00000543	1000
Loss of Function	0.0622	6	6.17	0.973	4.14e-7	56

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000508	0.000507
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000561	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.0000561	0.0000544
South Asian	0.0000666	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.844
• rvis_EVS: 0.07
• rvis_percentile_EVS: 58.96

Haploinsufficiency Scores

• pHI: 0.0979
• hipred: N
• hipred_score: 0.112
• ghis: 0.540

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.111

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of transcription, DNA-templated;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;metal ion binding