ZNF77

zinc finger protein 77, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:2933217-2944971

Links

ENSG00000175691 ∙ NCBI:58492 ∙ OMIM:194551 ∙ HGNC:13150 ∙ Uniprot:Q15935 ∙ 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 ZNF77 gene.

• Inborn genetic diseases (34 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF77 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	2
missense			33	1	1	35
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	2	3

Variants in ZNF77

This is a list of pathogenic ClinVar variants found in the ZNF77 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-2933590-T-G		not specified	Uncertain significance (Mar 01, 2023)
19-2933596-C-T		not specified	Uncertain significance (Jun 10, 2022)
19-2933651-G-C			Benign (Aug 04, 2017)
19-2933680-C-G		not specified	Uncertain significance (Oct 20, 2023)
19-2933700-G-T		not specified	Uncertain significance (Jul 14, 2021)
19-2933701-C-T		not specified	Uncertain significance (Jul 26, 2021)
19-2933732-T-A		not specified	Uncertain significance (Nov 17, 2023)
19-2933739-G-A		not specified	Uncertain significance (Dec 13, 2023)
19-2933806-A-C		not specified	Uncertain significance (Nov 15, 2021)
19-2933821-A-G		not specified	Uncertain significance (Jan 09, 2024)
19-2933841-G-A		not specified	Uncertain significance (Jan 18, 2022)
19-2933959-C-T		not specified	Uncertain significance (Sep 17, 2021)
19-2934024-C-T		not specified	Uncertain significance (Apr 25, 2022)
19-2934058-A-G		not specified	Uncertain significance (Feb 03, 2022)
19-2934061-C-T		not specified	Uncertain significance (Sep 26, 2023)
19-2934088-T-C		not specified	Uncertain significance (Apr 18, 2023)
19-2934102-T-C		not specified	Uncertain significance (Feb 03, 2022)
19-2934126-G-C		not specified	Uncertain significance (Mar 03, 2022)
19-2934151-A-T		not specified	Uncertain significance (Jan 05, 2022)
19-2934152-C-A		not specified	Uncertain significance (Oct 14, 2023)
19-2934220-T-C		not specified	Uncertain significance (Jun 30, 2022)
19-2934243-G-A		not specified	Uncertain significance (Oct 12, 2021)
19-2934262-T-C		not specified	Uncertain significance (Dec 28, 2022)
19-2934265-T-C		not specified	Uncertain significance (Mar 22, 2023)
19-2934293-G-C		not specified	Uncertain significance (Nov 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF77	protein_coding	protein_coding	ENST00000314531	4	11754

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00456	0.694	121106	89	4551	125746	0.0186

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.339	330	313	1.05	0.0000174	3595
Missense in Polyphen		92	93.113	0.98804		1106
Synonymous	-0.881	135	123	1.10	0.00000815	979
Loss of Function	0.677	4	5.75	0.695	2.43e-7	70

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0376	0.0373
Ashkenazi Jewish	0.00964	0.00957
East Asian	0.0771	0.0670
Finnish	0.0157	0.0155
European (Non-Finnish)	0.0157	0.0153
Middle Eastern	0.0771	0.0670
South Asian	0.00536	0.00527
Other	0.0210	0.0202

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: 0.182

Intolerance Scores

• loftool: 0.958
• rvis_EVS: 1.54
• rvis_percentile_EVS: 95.57

Haploinsufficiency Scores

• pHI: 0.186
• hipred: N
• hipred_score: 0.112
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.552

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