ZNF764

zinc finger protein 764, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:30553763-30558374

Links

ENSG00000169951 ∙ NCBI:92595 ∙ OMIM:619524 ∙ HGNC:28200 ∙ Uniprot:Q96H86 ∙ 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 ZNF764 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF764 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			30			30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	0	0

Variants in ZNF764

This is a list of pathogenic ClinVar variants found in the ZNF764 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30555217-C-T		not specified	Uncertain significance (May 26, 2022)
16-30555234-C-T		not specified	Uncertain significance (May 01, 2024)
16-30555276-A-G		not specified	Uncertain significance (Apr 09, 2024)
16-30555295-C-A		not specified	Uncertain significance (Dec 07, 2021)
16-30555297-C-T		not specified	Uncertain significance (Nov 08, 2021)
16-30555325-G-A		not specified	Uncertain significance (Nov 23, 2022)
16-30555396-G-A		not specified	Uncertain significance (Mar 01, 2024)
16-30555400-T-C		not specified	Uncertain significance (Jun 06, 2022)
16-30555421-T-C		not specified	Uncertain significance (Jul 06, 2021)
16-30555448-G-A		not specified	Uncertain significance (Dec 14, 2023)
16-30555457-G-T		not specified	Uncertain significance (Jul 11, 2023)
16-30555460-C-T		not specified	Uncertain significance (Aug 22, 2023)
16-30555478-A-G		not specified	Uncertain significance (Feb 26, 2024)
16-30555574-C-T		not specified	Uncertain significance (Feb 07, 2023)
16-30555589-G-A		not specified	Uncertain significance (Jan 22, 2024)
16-30555687-G-A		not specified	Uncertain significance (May 24, 2024)
16-30555709-G-A		not specified	Uncertain significance (Dec 21, 2023)
16-30555757-G-A		not specified	Uncertain significance (Mar 29, 2023)
16-30555828-G-C		not specified	Uncertain significance (Dec 01, 2022)
16-30555858-G-A		not specified	Uncertain significance (Sep 27, 2021)
16-30555859-A-G		not specified	Uncertain significance (Jun 17, 2022)
16-30555918-A-C		not specified	Uncertain significance (Dec 21, 2022)
16-30555921-G-C		not specified	Uncertain significance (Feb 15, 2023)
16-30556075-C-T		not specified	Uncertain significance (Apr 14, 2022)
16-30556107-T-C		not specified	Uncertain significance (May 30, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF764	protein_coding	protein_coding	ENST00000252797	3	4735

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000824	0.783	125663	1	83	125747	0.000334

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.447	288	267	1.08	0.0000184	2556
Missense in Polyphen		104	97.765	1.0638		1036
Synonymous	-0.510	126	119	1.06	0.00000867	856
Loss of Function	1.14	8	12.3	0.649	5.29e-7	139

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000522	0.000485
Ashkenazi Jewish	0.00	0.00
East Asian	0.00235	0.00229
Finnish	0.000105	0.0000924
European (Non-Finnish)	0.000258	0.000237
Middle Eastern	0.00235	0.00229
South Asian	0.0000997	0.0000980
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)

Recessive Scores

• pRec: 0.101

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.112
• ghis: 0.439

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.923

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp764

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