ZNF285

zinc finger protein 285, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:44382298-44401608

Previous symbols: [ "ZNF285A" ]

Links

ENSG00000267508 ∙ NCBI:26974 ∙ ∙ HGNC:13079 ∙ Uniprot:Q96NJ3 ∙ 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 ZNF285 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF285 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				1		1
missense			34	9		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	10	0

Variants in ZNF285

This is a list of pathogenic ClinVar variants found in the ZNF285 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-44386494-T-C		not specified	Uncertain significance (Dec 02, 2022)
19-44386515-A-G		not specified	Uncertain significance (Nov 15, 2021)
19-44386523-T-C			Likely benign (Apr 01, 2023)
19-44386663-T-C		not specified	Uncertain significance (Feb 27, 2024)
19-44386725-A-G		not specified	Likely benign (Jun 11, 2021)
19-44386737-T-C		not specified	Uncertain significance (Apr 29, 2024)
19-44386782-A-C		not specified	Uncertain significance (Jul 15, 2021)
19-44386786-C-T		not specified	Uncertain significance (Mar 27, 2023)
19-44386812-T-G		not specified	Uncertain significance (Dec 14, 2022)
19-44386818-C-A		not specified	Uncertain significance (May 14, 2024)
19-44386842-C-G		not specified	Uncertain significance (Apr 30, 2024)
19-44386954-C-T		not specified	Uncertain significance (Jan 03, 2022)
19-44386981-G-C		not specified	Uncertain significance (Aug 14, 2023)
19-44387019-A-C		not specified	Uncertain significance (May 22, 2023)
19-44387049-G-A		not specified	Uncertain significance (Oct 12, 2021)
19-44387056-C-T		not specified	Uncertain significance (Nov 30, 2021)
19-44387096-C-G		not specified	Uncertain significance (Aug 16, 2021)
19-44387106-C-G		not specified	Uncertain significance (Feb 28, 2023)
19-44387112-C-G		not specified	Uncertain significance (Oct 14, 2023)
19-44387169-A-G		not specified	Uncertain significance (Apr 18, 2023)
19-44387202-T-A		not specified	Likely benign (Nov 17, 2022)
19-44387202-T-G		not specified	Likely benign (Dec 17, 2021)
19-44387203-C-T		not specified	Uncertain significance (Mar 02, 2023)
19-44387206-C-T		not specified	Likely benign (Jan 26, 2022)
19-44387214-T-C		not specified	Uncertain significance (Mar 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF285	protein_coding	protein_coding	ENST00000330997	3	19316

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000167	0.702	125707	0	36	125743	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.27	367	304	1.21	0.0000159	3931
Missense in Polyphen		50	52.013	0.9613		744
Synonymous	-0.669	119	110	1.08	0.00000568	1019
Loss of Function	0.905	7	10.1	0.693	4.95e-7	140

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000514	0.000514
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000185	0.000185
Middle Eastern	0.000109	0.000109
South Asian	0.0000327	0.0000327
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)

Intolerance Scores

• rvis_EVS: 1.91
• rvis_percentile_EVS: 97.42

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.158

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	Medium	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;DNA-binding transcription factor activity;metal ion binding