ZNF781

zinc finger protein 781, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:37668579-37676393

Links

ENSG00000196381 ∙ NCBI:163115 ∙ ∙ HGNC:26745 ∙ Uniprot:Q8N8C0 ∙ 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 ZNF781 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF781 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			28	1		29
Total	0	0	28	1	0

Variants in ZNF781

This is a list of pathogenic ClinVar variants found in the ZNF781 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-37669188-G-C		not specified	Uncertain significance (Aug 02, 2023)
19-37669235-T-A		not specified	Uncertain significance (Nov 07, 2024)
19-37669293-T-G		not specified	Uncertain significance (Feb 21, 2024)
19-37669332-A-G		not specified	Uncertain significance (Mar 19, 2024)
19-37669352-A-G		not specified	Uncertain significance (Nov 08, 2022)
19-37669375-A-T		not specified	Uncertain significance (Oct 05, 2023)
19-37669379-A-G		not specified	Uncertain significance (Jul 26, 2024)
19-37669380-T-C		not specified	Uncertain significance (Jan 17, 2024)
19-37669416-T-C		not specified	Uncertain significance (May 15, 2024)
19-37669431-C-A		not specified	Uncertain significance (Jan 24, 2025)
19-37669442-C-G		not specified	Uncertain significance (Sep 01, 2021)
19-37669515-T-C		not specified	Uncertain significance (Apr 07, 2023)
19-37669545-T-G		not specified	Uncertain significance (Nov 29, 2024)
19-37669551-G-A		not specified	Uncertain significance (Nov 15, 2024)
19-37669563-G-T		not specified	Uncertain significance (Nov 21, 2024)
19-37669596-C-G		not specified	Uncertain significance (Oct 27, 2022)
19-37669623-T-C		not specified	Uncertain significance (May 24, 2024)
19-37669655-T-C		not specified	Uncertain significance (Dec 07, 2024)
19-37669706-T-C		not specified	Uncertain significance (Jul 20, 2021)
19-37669712-T-C		not specified	Uncertain significance (Nov 22, 2024)
19-37669743-C-T		not specified	Likely benign (Jun 29, 2022)
19-37669823-C-A		not specified	Uncertain significance (Jun 03, 2022)
19-37669830-G-A		not specified	Uncertain significance (Jun 13, 2024)
19-37669842-G-A		not specified	Uncertain significance (Feb 28, 2025)
19-37669928-G-A		not specified	Uncertain significance (Jun 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF781	protein_coding	protein_coding	ENST00000358582	1	24572

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.491	155	173	0.895	0.00000812	2186
Missense in Polyphen		19	22.449	0.84635		289
Synonymous	0.468	55	59.6	0.923	0.00000276	605
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Intolerance Scores

• loftool: 0.857
• rvis_EVS: 0.08
• rvis_percentile_EVS: 60.31

Haploinsufficiency Scores

• pHI: 0.194
• hipred: N
• hipred_score: 0.123
• ghis: 0.540

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.171

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;metal ion binding