ZNF785

zinc finger protein 785, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:30573739-30585769

Links

ENSG00000197162 ∙ NCBI:146540 ∙ ∙ HGNC:26496 ∙ Uniprot:A8K8V0 ∙ 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 ZNF785 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF785 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			23			23
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	0

Variants in ZNF785

This is a list of pathogenic ClinVar variants found in the ZNF785 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30582679-C-G		not specified	Uncertain significance (Aug 15, 2023)
16-30582718-C-T		not specified	Uncertain significance (Mar 17, 2023)
16-30582735-C-A		not specified	Uncertain significance (Jan 11, 2023)
16-30582735-C-T		not specified	Uncertain significance (Jul 09, 2021)
16-30582736-C-T		not specified	Uncertain significance (Jun 13, 2023)
16-30582783-C-T		not specified	Uncertain significance (Nov 30, 2022)
16-30582798-A-G		not specified	Uncertain significance (Mar 15, 2024)
16-30582912-C-G		not specified	Uncertain significance (Nov 14, 2023)
16-30582937-C-T		not specified	Uncertain significance (May 18, 2023)
16-30582942-G-A		not specified	Uncertain significance (Feb 16, 2023)
16-30582993-T-G		not specified	Uncertain significance (Sep 25, 2023)
16-30583053-G-A		not specified	Uncertain significance (Jun 17, 2024)
16-30583059-C-T		not specified	Uncertain significance (May 22, 2023)
16-30583061-C-G		not specified	Uncertain significance (Jun 10, 2022)
16-30583075-G-A		not specified	Uncertain significance (Jan 04, 2022)
16-30583090-A-T		not specified	Uncertain significance (Sep 29, 2022)
16-30583114-G-A		not specified	Uncertain significance (Nov 18, 2022)
16-30583158-G-A		not specified	Uncertain significance (Jul 20, 2022)
16-30583183-G-A		not specified	Uncertain significance (Apr 19, 2024)
16-30583186-G-A		not specified	Uncertain significance (Oct 29, 2021)
16-30583433-A-T		not specified	Uncertain significance (Aug 02, 2021)
16-30585145-C-T		not specified	Uncertain significance (Aug 02, 2023)
16-30585208-C-G		not specified	Uncertain significance (Dec 14, 2023)
16-30585426-G-A			Likely benign (Dec 01, 2022)
16-30585436-C-T		not specified	Uncertain significance (Apr 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF785	protein_coding	protein_coding	ENST00000395216	3	12032

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000275	0.0984	125714	0	5	125719	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.527	250	275	0.910	0.0000183	2622
Missense in Polyphen		77	81.551	0.94419		812
Synonymous	1.22	97	114	0.854	0.00000737	818
Loss of Function	-1.16	7	4.38	1.60	1.87e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000870	0.0000870
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000548	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.00000882	0.00000879
Middle Eastern	0.0000548	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Intolerance Scores

• loftool: 0.778
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.74

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.204
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.466

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
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;metal ion binding