ZNF83

zinc finger protein 83, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:52594059-52690559

Previous symbols: [ "ZNF816B" ]

Links

ENSG00000167766 ∙ NCBI:55769 ∙ OMIM:194558 ∙ HGNC:13158 ∙ Uniprot:P51522 ∙ 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 ZNF83 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF83 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			24	2		26
nonsense						0
start loss						0
frameshift						0
inframe indel					1	1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	24	3	1

Variants in ZNF83

This is a list of pathogenic ClinVar variants found in the ZNF83 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-52613040-C-T		not specified	Uncertain significance (Apr 18, 2023)
19-52613072-G-A		not specified	Uncertain significance (Oct 27, 2021)
19-52613079-C-T		not specified	Uncertain significance (Dec 14, 2023)
19-52613135-G-A		not specified	Likely benign (Mar 21, 2022)
19-52613145-T-G		not specified	Uncertain significance (Jul 25, 2023)
19-52613159-C-G		not specified	Uncertain significance (May 21, 2024)
19-52613222-C-T		not specified	Uncertain significance (May 06, 2022)
19-52613250-C-T		not specified	Likely benign (Dec 06, 2021)
19-52613385-T-G		not specified	Uncertain significance (May 31, 2023)
19-52613457-C-T		not specified	Uncertain significance (May 27, 2022)
19-52613471-A-T		not specified	Uncertain significance (May 03, 2023)
19-52613513-C-T		not specified	Uncertain significance (Jan 26, 2023)
19-52613555-C-T		not specified	Uncertain significance (Apr 11, 2023)
19-52613643-A-G		not specified	Uncertain significance (Feb 13, 2024)
19-52613677-C-G		not specified	Uncertain significance (Aug 14, 2023)
19-52613680-GCCACACTCATTACATTTGTAAGGTTTCTCTCCAGTGTGGATTCTCTGATGTTGTGCAAGGTGTGAAATATGATGGAAGACCTTT-G			Benign (Oct 29, 2018)
19-52613711-C-G		not specified	Uncertain significance (Dec 01, 2022)
19-52613741-T-G			not provided (-)
19-52613834-C-T		not specified	Uncertain significance (Nov 17, 2023)
19-52613861-C-T		not specified	Uncertain significance (Mar 05, 2024)
19-52613877-C-T		not specified	Uncertain significance (Nov 10, 2022)
19-52613894-C-T		not specified	Uncertain significance (Jul 27, 2022)
19-52613964-C-T		not specified	Uncertain significance (Nov 22, 2022)
19-52614036-A-T		not specified	Uncertain significance (Jun 24, 2022)
19-52614237-T-C		not specified	Uncertain significance (Jun 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF83	protein_coding	protein_coding	ENST00000597597	1	96437

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	0.443	261	282	0.926	0.0000144	3457
Missense in Polyphen		89	117.21	0.75935		1530
Synonymous	-0.802	108	97.9	1.10	0.00000492	891
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.

Recessive Scores

• pRec: 0.0802

Intolerance Scores

• loftool: 0.998
• rvis_EVS: 1.24
• rvis_percentile_EVS: 93.42

Haploinsufficiency Scores

• pHI: 0.667
• hipred: N
• hipred_score: 0.112
• ghis: 0.430

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.415

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hpf1

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