ZNF768

zinc finger protein 768, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:30524004-30526821

Links

ENSG00000169957 ∙ NCBI:79724 ∙ OMIM:618032 ∙ HGNC:26273 ∙ Uniprot:Q9H5H4 ∙ 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 ZNF768 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF768 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			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	3	0

Variants in ZNF768

This is a list of pathogenic ClinVar variants found in the ZNF768 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30524528-C-A		not specified	Uncertain significance (May 13, 2024)
16-30524584-C-T		not specified	Uncertain significance (Jun 03, 2022)
16-30524646-G-C			Likely benign (May 01, 2022)
16-30524678-C-T		not specified	Uncertain significance (Mar 20, 2024)
16-30524740-T-C		not specified	Uncertain significance (Oct 06, 2021)
16-30524761-G-T		not specified	Uncertain significance (Aug 10, 2021)
16-30524766-G-C		not specified	Uncertain significance (Jul 06, 2021)
16-30524882-C-T		not specified	Uncertain significance (Aug 19, 2021)
16-30525119-C-A		not specified	Uncertain significance (Oct 25, 2022)
16-30525179-G-T		not specified	Uncertain significance (Dec 15, 2023)
16-30525280-T-C		not specified	Uncertain significance (Mar 16, 2024)
16-30525356-T-C		not specified	Uncertain significance (Aug 04, 2023)
16-30525388-C-T		not specified	Uncertain significance (Jun 28, 2023)
16-30525453-A-C		not specified	Uncertain significance (Nov 08, 2022)
16-30525497-G-A		not specified	Uncertain significance (Feb 28, 2023)
16-30525560-G-A		not specified	Uncertain significance (May 13, 2024)
16-30525560-G-C		not specified	Uncertain significance (Mar 12, 2024)
16-30525572-C-A		not specified	Likely benign (Nov 20, 2023)
16-30525572-C-T		not specified	Uncertain significance (May 10, 2024)
16-30525580-T-C		not specified	Likely benign (Oct 06, 2021)
16-30525736-T-A		not specified	Uncertain significance (Apr 13, 2022)
16-30525746-T-C		not specified	Uncertain significance (Apr 08, 2022)
16-30525785-G-A		not specified	Uncertain significance (Jul 20, 2022)
16-30525829-C-A		not specified	Uncertain significance (Sep 30, 2022)
16-30525886-C-T		not specified	Uncertain significance (Jun 03, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF768	protein_coding	protein_coding	ENST00000380412	2	2818

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.424	0.576	125737	0	9	125746	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.72	212	356	0.595	0.0000238	3534
Missense in Polyphen		66	181.54	0.36356		1639
Synonymous	-1.15	166	148	1.12	0.00000982	1083
Loss of Function	3.11	4	18.4	0.218	0.00000102	192

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.0000545	0.0000544
South Asian	0.00	0.00
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.239
• rvis_EVS: -0.29
• rvis_percentile_EVS: 33.2

Haploinsufficiency Scores

• pHI: 0.245
• hipred: Y
• hipred_score: 0.572
• ghis: 0.533

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.702

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp768

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;transcription by RNA polymerase II
• Cellular component: nucleus;RNA polymerase II, core complex
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;RNA binding;metal ion binding