ZNF776

zinc finger protein 776, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57746814-57758148

Links

ENSG00000152443 ∙ NCBI:284309 ∙ ∙ HGNC:26765 ∙ Uniprot:Q68DI1 ∙ 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 ZNF776 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF776 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in ZNF776

This is a list of pathogenic ClinVar variants found in the ZNF776 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57747078-G-T		not specified	Uncertain significance (May 03, 2023)
19-57747084-C-G		not specified	Uncertain significance (Feb 27, 2023)
19-57753344-C-A		not specified	Uncertain significance (Feb 14, 2023)
19-57753344-C-G		not specified	Uncertain significance (Dec 06, 2021)
19-57753383-T-C		not specified	Uncertain significance (Jan 12, 2024)
19-57753414-G-A		not specified	Uncertain significance (May 28, 2023)
19-57753566-G-A		not specified	Uncertain significance (Dec 14, 2023)
19-57753634-G-T		not specified	Uncertain significance (Aug 30, 2022)
19-57753656-A-C		not specified	Uncertain significance (Jan 19, 2024)
19-57753704-A-C		Malignant tumor of prostate	Uncertain significance (-)
19-57753781-T-G		not specified	Uncertain significance (Aug 13, 2021)
19-57753808-C-A		not specified	Uncertain significance (Feb 28, 2023)
19-57753843-G-A		not specified	Uncertain significance (Jun 29, 2022)
19-57753915-G-A		not specified	Uncertain significance (Jul 14, 2023)
19-57754004-T-C		not specified	Uncertain significance (May 25, 2022)
19-57754093-A-C		not specified	Uncertain significance (Aug 02, 2022)
19-57754128-G-A		not specified	Uncertain significance (Sep 01, 2021)
19-57754136-G-A		not specified	Uncertain significance (Jul 12, 2023)
19-57754235-G-A		not specified	Uncertain significance (Oct 14, 2023)
19-57754236-T-C		not specified	Uncertain significance (Dec 06, 2021)
19-57754271-T-C		not specified	Uncertain significance (Feb 21, 2024)
19-57754409-A-G		not specified	Uncertain significance (Oct 26, 2022)
19-57754433-A-G		not specified	Uncertain significance (Feb 13, 2024)
19-57754479-A-T		not specified	Uncertain significance (Oct 04, 2022)
19-57754605-A-T		not specified	Uncertain significance (May 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF776	protein_coding	protein_coding	ENST00000317178	3	11364

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00651	0.530	125600	0	143	125743	0.000569

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.250	261	273	0.957	0.0000135	3457
Missense in Polyphen		59	83.83	0.70381		1118
Synonymous	0.351	91	95.4	0.954	0.00000490	914
Loss of Function	0.00840	3	3.02	0.995	1.29e-7	34

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000493	0.000448
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000323	0.000277
European (Non-Finnish)	0.00123	0.00101
Middle Eastern	0.00	0.00
South Asian	0.000177	0.000163
Other	0.000916	0.000815

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: 0.826
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.68

Haploinsufficiency Scores

• pHI: 0.0538
• hipred: N
• hipred_score: 0.112
• ghis: 0.612

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0305

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