ZNF772

zinc finger protein 772, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57466663-57477570

Links

ENSG00000197128 ∙ NCBI:400720 ∙ ∙ HGNC:33106 ∙ Uniprot:Q68DY9 ∙ 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 ZNF772 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF772 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			22	3		25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	3	0

Variants in ZNF772

This is a list of pathogenic ClinVar variants found in the ZNF772 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57473320-G-T		not specified	Uncertain significance (Apr 25, 2022)
19-57473369-C-G		not specified	Uncertain significance (Aug 20, 2024)
19-57473396-C-T		not specified	Likely benign (Feb 28, 2024)
19-57473420-C-T		not specified	Uncertain significance (Jul 26, 2023)
19-57473434-C-T		not specified	Uncertain significance (Dec 05, 2022)
19-57473472-A-C		not specified	Uncertain significance (Nov 12, 2021)
19-57473491-C-A		not specified	Uncertain significance (Sep 04, 2024)
19-57473510-C-T		not specified	Uncertain significance (Mar 22, 2022)
19-57473516-C-T		not specified	Uncertain significance (Jul 13, 2021)
19-57473517-G-C		not specified	Uncertain significance (Mar 02, 2023)
19-57473594-C-T		not specified	Uncertain significance (Aug 15, 2024)
19-57473600-C-T		not specified	Uncertain significance (Jul 14, 2021)
19-57473654-T-C		not specified	Uncertain significance (Jul 25, 2023)
19-57473686-C-T		not specified	Uncertain significance (Feb 28, 2023)
19-57473776-T-A		not specified	Uncertain significance (Aug 21, 2024)
19-57473785-A-G		not specified	Uncertain significance (Oct 14, 2023)
19-57473806-T-C		not specified	Uncertain significance (Sep 27, 2021)
19-57473830-C-T		not specified	Uncertain significance (Sep 07, 2022)
19-57473843-T-C		not specified	Uncertain significance (May 24, 2023)
19-57473968-G-A		not specified	Likely benign (Sep 26, 2024)
19-57474009-A-T		not specified	Uncertain significance (Dec 04, 2024)
19-57474017-G-A		not specified	Uncertain significance (Dec 13, 2023)
19-57474027-C-G		not specified	Uncertain significance (Mar 30, 2024)
19-57474134-T-C		not specified	Likely benign (Aug 10, 2024)
19-57474161-T-C		not specified	Uncertain significance (Oct 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF772	protein_coding	protein_coding	ENST00000343280	5	10908

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000121	0.959	124050	8	1690	125748	0.00677

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.487	242	264	0.916	0.0000127	3291
Missense in Polyphen		96	111.09	0.86414		1425
Synonymous	0.698	81	89.4	0.906	0.00000442	863
Loss of Function	1.84	9	17.2	0.522	7.41e-7	233

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00383	0.00382
Ashkenazi Jewish	0.00821	0.00807
East Asian	0.000544	0.000544
Finnish	0.0271	0.0272
European (Non-Finnish)	0.00740	0.00737
Middle Eastern	0.000544	0.000544
South Asian	0.00181	0.00177
Other	0.00523	0.00523

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: 0.506
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.41

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.132
• ghis: 0.506

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.113

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