ZNF286B

zinc finger protein 286B (pseudogene), the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 17:18661937-18681846

Previous symbols: [ "ZNF286L", "ZNF286C" ]

Links

ENSG00000249459 ∙ NCBI:729288 ∙ ∙ HGNC:33241 ∙ Uniprot:P0CG31 ∙ 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 ZNF286B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF286B 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						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF286B	protein_coding	protein_coding	ENST00000545289	4	23834

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000534	0.879	121268	188	4291	125747	0.0180

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0121	258	259	0.998	0.0000128	3434
Missense in Polyphen		69	75.142	0.91826		1034
Synonymous	-0.265	98	94.7	1.03	0.00000526	931
Loss of Function	1.52	11	17.9	0.613	8.62e-7	283

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.101	0.100
Ashkenazi Jewish	0.00473	0.00457
East Asian	0.000382	0.000381
Finnish	0.00518	0.00509
European (Non-Finnish)	0.00896	0.00866
Middle Eastern	0.000382	0.000381
South Asian	0.00599	0.00583
Other	0.0123	0.0118

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

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