ZNF286A

zinc finger protein 286A, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 17:15699577-15720787

Previous symbols: [ "ZNF286" ]

Links

ENSG00000187607 ∙ NCBI:57335 ∙ ∙ HGNC:13501 ∙ Uniprot:Q9HBT8 ∙ 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 ZNF286A gene.

• not_specified (69 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF286A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001130842.2. 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				1		1
missense			65	4		69
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF286A	protein_coding	protein_coding	ENST00000464847	5	37984

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000337	0.944	125700	0	40	125740	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.771	225	260	0.865	0.0000121	3455
Missense in Polyphen		79	107.28	0.73642		1398
Synonymous	0.942	79	90.4	0.874	0.00000435	904
Loss of Function	1.81	12	20.9	0.574	0.00000100	308

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000247	0.000243
Ashkenazi Jewish	0.00	0.00
East Asian	0.000170	0.000163
Finnish	0.000232	0.000231
European (Non-Finnish)	0.000186	0.000185
Middle Eastern	0.000170	0.000163
South Asian	0.0000980	0.0000980
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

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

Intolerance Scores

• loftool: 0.940
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.54

Haploinsufficiency Scores

• pHI: 0.252
• hipred: N
• hipred_score: 0.218

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.283

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp286

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