ZNF85

zinc finger protein 85, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:20923222-20950697

Links

ENSG00000105750 ∙ NCBI:7639 ∙ OMIM:603899 ∙ HGNC:13160 ∙ Uniprot:Q03923 ∙ 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 ZNF85 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF85 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			46			46
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	46	0	0

Variants in ZNF85

This is a list of pathogenic ClinVar variants found in the ZNF85 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-20934051-A-G		not specified	Uncertain significance (Apr 17, 2023)
19-20934079-G-C		not specified	Uncertain significance (Mar 04, 2024)
19-20934096-C-T		not specified	Uncertain significance (Jul 20, 2022)
19-20934097-G-A		not specified	Likely benign (Apr 04, 2024)
19-20934957-G-A		not specified	Uncertain significance (Apr 17, 2024)
19-20935020-C-T		not specified	Uncertain significance (Jan 29, 2024)
19-20935023-G-A		not specified	Uncertain significance (Jun 12, 2023)
19-20948746-A-G		not specified	Uncertain significance (Feb 26, 2024)
19-20948770-C-G		not specified	Uncertain significance (Feb 06, 2023)
19-20948855-T-C		not specified	Uncertain significance (Apr 08, 2024)
19-20948926-C-T		not specified	Uncertain significance (Oct 26, 2021)
19-20948983-A-G		not specified	Uncertain significance (Jun 07, 2023)
19-20948993-A-T		not specified	Uncertain significance (Nov 23, 2022)
19-20949003-A-T		not specified	Uncertain significance (Jun 28, 2022)
19-20949083-C-G		not specified	Uncertain significance (Jun 07, 2024)
19-20949152-G-T		not specified	Uncertain significance (Oct 25, 2022)
19-20949202-T-C		not specified	Uncertain significance (Dec 01, 2022)
19-20949206-A-T		not specified	Uncertain significance (Sep 16, 2021)
19-20949264-A-T		not specified	Uncertain significance (Sep 16, 2021)
19-20949332-T-C		not specified	Uncertain significance (May 16, 2024)
19-20949346-A-G		not specified	Uncertain significance (Sep 01, 2021)
19-20949376-T-A		not specified	Uncertain significance (Mar 07, 2023)
19-20949406-T-C		not specified	Uncertain significance (Apr 04, 2023)
19-20949419-C-A		not specified	Uncertain significance (Jan 04, 2024)
19-20949431-A-G		not specified	Uncertain significance (Sep 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF85	protein_coding	protein_coding	ENST00000328178	4	27476

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000473	0.253	125488	2	242	125732	0.000971

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.45	363	293	1.24	0.0000132	3932
Missense in Polyphen		83	73.445	1.1301		1115
Synonymous	-0.571	107	99.7	1.07	0.00000464	1009
Loss of Function	-0.390	6	5.05	1.19	2.14e-7	62

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0148	0.0143
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000266	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a transcriptional repressor. {ECO:0000269|PubMed:9839802}.

Recessive Scores

• pRec: 0.107

Intolerance Scores

• loftool: 0.697
• rvis_EVS: 2.58
• rvis_percentile_EVS: 98.75

Haploinsufficiency Scores

• pHI: 0.167
• hipred: N
• hipred_score: 0.148
• ghis: 0.413

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0959

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;negative regulation of nucleic acid-templated transcription
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;transcription corepressor activity;metal ion binding