ZNF786

zinc finger protein 786, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:149069640-149090782

Links

ENSG00000197362 ∙ NCBI:136051 ∙ ∙ HGNC:21806 ∙ Uniprot:Q8N393 ∙ 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 ZNF786 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF786 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			54	6		60
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	6	0

Variants in ZNF786

This is a list of pathogenic ClinVar variants found in the ZNF786 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-149070458-G-C		not specified	Uncertain significance (Aug 08, 2022)
7-149070509-T-C		not specified	Uncertain significance (Sep 17, 2021)
7-149070555-C-G		not specified	Uncertain significance (Jan 04, 2024)
7-149070564-A-T		not specified	Uncertain significance (Jul 11, 2023)
7-149070788-T-C		not specified	Uncertain significance (Jul 28, 2021)
7-149070792-G-C		not specified	Likely benign (Oct 12, 2021)
7-149070821-A-T		not specified	Uncertain significance (Nov 13, 2023)
7-149070823-G-A		not specified	Uncertain significance (Sep 21, 2023)
7-149070823-G-C		not specified	Uncertain significance (Dec 21, 2023)
7-149070831-C-A		not specified	Uncertain significance (Aug 10, 2021)
7-149070831-C-T		not specified	Uncertain significance (Dec 28, 2022)
7-149070859-G-A		not specified	Uncertain significance (Jun 02, 2023)
7-149070869-C-A		not specified	Uncertain significance (Oct 02, 2023)
7-149070881-G-A		not specified	Uncertain significance (Aug 02, 2021)
7-149070901-G-A		not specified	Uncertain significance (Dec 18, 2023)
7-149070935-G-T		not specified	Uncertain significance (May 15, 2024)
7-149071033-A-G		not specified	Uncertain significance (Dec 13, 2022)
7-149071063-C-T		not specified	Uncertain significance (Oct 17, 2023)
7-149071132-C-T		not specified	Uncertain significance (Aug 17, 2021)
7-149071175-C-G		not specified	Uncertain significance (Nov 07, 2022)
7-149071223-C-T		not specified	Uncertain significance (Aug 19, 2023)
7-149071258-C-T		not specified	Uncertain significance (Dec 15, 2023)
7-149071265-G-T		not specified	Uncertain significance (Oct 22, 2021)
7-149071355-G-A		not specified	Uncertain significance (Jul 14, 2021)
7-149071409-A-C		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF786	protein_coding	protein_coding	ENST00000491431	4	21140

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.35e-12	0.237	124710	1	163	124874	0.000657

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.45	587	496	1.18	0.0000329	5170
Missense in Polyphen		184	164.33	1.1197		1861
Synonymous	-1.80	240	207	1.16	0.0000149	1481
Loss of Function	0.975	21	26.4	0.795	0.00000128	301

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00108	0.00107
Ashkenazi Jewish	0.00	0.00
East Asian	0.000334	0.000333
Finnish	0.000841	0.000835
European (Non-Finnish)	0.000507	0.000459
Middle Eastern	0.000334	0.000333
South Asian	0.00161	0.00160
Other	0.00116	0.00115

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: 0.666
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.36

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.112
• ghis: 0.566

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.531

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp786

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