ZNF782

zinc finger protein 782, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 9:96816268-96875623

Links

ENSG00000196597 ∙ NCBI:158431 ∙ ∙ HGNC:33110 ∙ Uniprot:Q6ZMW2 ∙ 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 ZNF782 gene.

• Inborn genetic diseases (21 variants)
• Mycotic Aneurysm, Intracranial (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF782 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			20	2		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	2	0

Variants in ZNF782

This is a list of pathogenic ClinVar variants found in the ZNF782 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-96817955-T-C		not specified	Uncertain significance (Apr 13, 2023)
9-96818032-T-C		not specified	Uncertain significance (Jan 04, 2023)
9-96818072-A-G		not specified	Uncertain significance (Oct 04, 2022)
9-96818257-G-C		not specified	Uncertain significance (Jul 25, 2023)
9-96818422-T-C		not specified	Uncertain significance (Jul 12, 2022)
9-96818445-T-A		not specified	Uncertain significance (Apr 07, 2023)
9-96818507-A-G		not specified	Uncertain significance (Nov 08, 2021)
9-96818510-G-A		not specified	Uncertain significance (May 27, 2022)
9-96818513-T-C		not specified	Uncertain significance (Dec 12, 2023)
9-96818632-A-T		not specified	Uncertain significance (Jul 12, 2023)
9-96818633-T-C		not specified	Uncertain significance (Dec 06, 2022)
9-96818641-T-C		not specified	Uncertain significance (Feb 21, 2024)
9-96818702-G-C		not specified	Uncertain significance (Apr 25, 2022)
9-96818705-G-A		not specified	Uncertain significance (Jan 02, 2024)
9-96818800-C-T		not specified	Uncertain significance (Aug 04, 2023)
9-96818812-C-T		not specified	Uncertain significance (Nov 15, 2023)
9-96819061-C-T		Mycotic Aneurysm, Intracranial	Uncertain significance (Oct 08, 2021)
9-96819125-T-C		not specified	Uncertain significance (Oct 03, 2022)
9-96819322-T-C		not specified	Uncertain significance (Feb 11, 2022)
9-96819401-T-C		not specified	Uncertain significance (Dec 18, 2023)
9-96819431-G-A		not specified	Uncertain significance (Mar 21, 2023)
9-96819524-C-T		not specified	Uncertain significance (Dec 01, 2023)
9-96819548-T-C		not specified	Uncertain significance (Dec 06, 2021)
9-96819585-C-G		not specified	Uncertain significance (Nov 06, 2023)
9-96819596-A-G		not specified	Likely benign (Jan 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF782	protein_coding	protein_coding	ENST00000481138	4	59152

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.21e-10	0.562	125541	0	206	125747	0.000819

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.254	341	354	0.962	0.0000169	4673
Missense in Polyphen		99	103.83	0.95344		1360
Synonymous	0.488	120	127	0.945	0.00000622	1212
Loss of Function	1.26	18	24.7	0.728	0.00000129	374

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00224	0.00224
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.00120	0.00120
European (Non-Finnish)	0.000759	0.000756
Middle Eastern	0.000272	0.000272
South Asian	0.000819	0.000817
Other	0.000817	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: 0.803
• rvis_EVS: 1.18
• rvis_percentile_EVS: 92.79

Haploinsufficiency Scores

• pHI: 0.139
• hipred: N
• hipred_score: 0.112
• ghis: 0.472

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0940

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