ZNF80

zinc finger protein 80, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 3:114234631-114237578

Links

ENSG00000174255 ∙ NCBI:7634 ∙ OMIM:194553 ∙ HGNC:13155 ∙ Uniprot:P51504 ∙ 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 ZNF80 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF80 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			9	1	3	13
nonsense					1	1
start loss						0
frameshift					1	1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	2	6

Variants in ZNF80

This is a list of pathogenic ClinVar variants found in the ZNF80 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-114236301-A-G			Benign (Oct 24, 2018)
3-114236313-A-G			Likely benign (Apr 04, 2018)
3-114236372-G-A		not specified	Uncertain significance (May 20, 2024)
3-114236380-AG-A			Benign (Dec 18, 2019)
3-114236453-T-C		not specified	Likely benign (Aug 03, 2022)
3-114236492-C-A		not specified	Uncertain significance (Oct 14, 2023)
3-114236519-C-T			Benign (Oct 24, 2018)
3-114236705-G-A		not specified	Uncertain significance (Apr 18, 2023)
3-114236744-C-G		not specified	Uncertain significance (Feb 16, 2023)
3-114236755-C-G		not specified	Uncertain significance (Jan 22, 2024)
3-114236765-G-A			Benign (Dec 31, 2019)
3-114236797-A-G		not specified	Uncertain significance (Jun 06, 2023)
3-114236803-T-G		not specified	Uncertain significance (Jan 04, 2022)
3-114236879-G-A			Benign (Dec 31, 2019)
3-114236881-A-G		not specified	Uncertain significance (Feb 26, 2024)
3-114237017-G-C		not specified	Uncertain significance (Aug 12, 2022)
3-114237043-C-T			Benign (Dec 31, 2019)
3-114237059-C-T		not specified	Uncertain significance (Mar 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF80	protein_coding	protein_coding	ENST00000482457	1	2943

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	-0.143	162	157	1.03	0.00000867	1805
Missense in Polyphen		49	40.273	1.2167		534
Synonymous	0.509	54	59.0	0.916	0.00000339	498
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: 0.830
• rvis_EVS: 1.26
• rvis_percentile_EVS: 93.56

Haploinsufficiency Scores

• pHI: 0.0877
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0202

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