ZNF771

zinc finger protein 771, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:30407414-30431108

Links

ENSG00000179965 ∙ NCBI:51333 ∙ ∙ HGNC:29653 ∙ Uniprot:Q7L3S4 ∙ 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 ZNF771 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF771 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			14	1		15
Total	0	0	24	1	0

Variants in ZNF771

This is a list of pathogenic ClinVar variants found in the ZNF771 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30417562-G-A		not specified	Uncertain significance (Jan 18, 2022)
16-30417568-C-G		not specified	Uncertain significance (Dec 17, 2023)
16-30417595-G-T		not specified	Uncertain significance (Mar 01, 2023)
16-30417757-G-A		not specified	Uncertain significance (Nov 14, 2023)
16-30417877-G-A		not specified	Uncertain significance (Nov 09, 2023)
16-30417981-C-G		not specified	Uncertain significance (Nov 29, 2023)
16-30418013-G-C		not specified	Uncertain significance (Dec 22, 2023)
16-30418119-T-C		not specified	Uncertain significance (Mar 01, 2024)
16-30418192-C-T		not specified	Uncertain significance (Feb 27, 2024)
16-30418197-G-A		not specified	Uncertain significance (Apr 04, 2023)
16-30418261-G-A		not specified	Uncertain significance (Apr 19, 2024)
16-30424283-C-T		not specified	Uncertain significance (Jun 10, 2024)
16-30424324-T-A		not specified	Uncertain significance (Sep 07, 2022)
16-30424342-C-T		not specified	Uncertain significance (Jul 13, 2021)
16-30424343-G-A		not specified	Uncertain significance (Feb 23, 2023)
16-30424414-C-T		not specified	Likely benign (Oct 26, 2022)
16-30424435-A-G		not specified	Uncertain significance (Sep 09, 2021)
16-30424460-G-A		not specified	Uncertain significance (Dec 15, 2022)
16-30424480-C-T		not specified	Uncertain significance (Aug 17, 2021)
16-30424490-G-T		not specified	Uncertain significance (Jun 26, 2023)
16-30424508-C-T		not specified	Uncertain significance (Mar 06, 2023)
16-30424520-C-T		not specified	Uncertain significance (Dec 11, 2023)
16-30429917-G-A		not specified	Uncertain significance (Nov 09, 2023)
16-30429937-T-G		not specified	Uncertain significance (Oct 26, 2022)
16-30429944-C-A		not specified	Uncertain significance (Jan 04, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF771	protein_coding	protein_coding	ENST00000319296	2	22303

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0599	0.875	123410	0	2	123412	0.00000810

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.06	50	111	0.450	0.00000556	1984
Missense in Polyphen		11	37.14	0.29618		683
Synonymous	-1.40	57	45.1	1.26	0.00000234	625
Loss of Function	1.55	3	7.61	0.394	3.35e-7	109

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000917	0.00000904
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)

Recessive Scores

• pRec: 0.112

Haploinsufficiency Scores

• pHI: 0.375
• hipred: N
• hipred_score: 0.483
• ghis: 0.429

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp771

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;cellular response to DNA damage stimulus
• Cellular component: nucleus;nucleolus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding