ZNF777

zinc finger protein 777, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:149431363-149461062

Links

ENSG00000196453 ∙ NCBI:27153 ∙ OMIM:619298 ∙ HGNC:22213 ∙ Uniprot:Q9ULD5 ∙ 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 ZNF777 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF777 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			39	2		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	3	0

Variants in ZNF777

This is a list of pathogenic ClinVar variants found in the ZNF777 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-149432104-T-G			Uncertain significance (May 16, 2023)
7-149432268-C-G		not specified	Uncertain significance (Aug 13, 2021)
7-149432361-C-G		not specified	Uncertain significance (Feb 17, 2024)
7-149432384-C-T		not specified	Uncertain significance (Aug 04, 2023)
7-149432385-G-A			Likely benign (Nov 01, 2022)
7-149432521-C-G		not specified	Uncertain significance (Oct 10, 2023)
7-149432534-C-T		not specified	Uncertain significance (Jan 11, 2023)
7-149432542-G-A		not specified	Uncertain significance (Apr 21, 2022)
7-149432665-T-G		not specified	Uncertain significance (Apr 06, 2022)
7-149432674-G-A		not specified	Uncertain significance (Jun 01, 2023)
7-149432678-C-T		not specified	Uncertain significance (Dec 12, 2023)
7-149432698-T-G		not specified	Uncertain significance (Mar 24, 2023)
7-149432708-C-T		not specified	Uncertain significance (Sep 21, 2023)
7-149432770-T-C		not specified	Uncertain significance (May 18, 2023)
7-149432825-C-T		not specified	Uncertain significance (May 01, 2022)
7-149432889-T-G		not specified	Uncertain significance (May 27, 2022)
7-149432898-C-G		not specified	Uncertain significance (Apr 12, 2024)
7-149436615-G-T		not specified	Uncertain significance (Jun 24, 2022)
7-149436623-C-T		not specified	Uncertain significance (Mar 20, 2023)
7-149436673-T-C		not specified	Uncertain significance (Mar 30, 2024)
7-149436725-C-T		not specified	Uncertain significance (May 02, 2024)
7-149451005-T-C		not specified	Uncertain significance (Aug 08, 2022)
7-149451008-G-A		not specified	Uncertain significance (Jul 12, 2023)
7-149451026-C-T		not specified	Uncertain significance (Dec 13, 2023)
7-149451068-C-T		not specified	Uncertain significance (Dec 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF777	protein_coding	protein_coding	ENST00000247930	5	29761

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000166	123278	0	1	123279	0.00000406

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.09	340	542	0.627	0.0000398	5412
Missense in Polyphen		74	218.23	0.33909		2155
Synonymous	-1.63	280	247	1.13	0.0000199	1664
Loss of Function	5.16	0	31.0	0.00	0.00000143	343

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000905	0.00000905
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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)

Intolerance Scores

• loftool: 0.0127
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.32

Haploinsufficiency Scores

• pHI: 0.532
• hipred: Y
• hipred_score: 0.622
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.287

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp777

Gene ontology

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