ZNF280B

zinc finger protein 280B, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 22:22484421-22508742

Previous symbols: [ "ZNF279", "SUHW2" ]

Links

ENSG00000275004 ∙ NCBI:140883 ∙ ∙ HGNC:23022 ∙ Uniprot:Q86YH2 ∙ 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 ZNF280B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF280B 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			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in ZNF280B

This is a list of pathogenic ClinVar variants found in the ZNF280B region.

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

Position	Type	Phenotype	Significance	ClinVar
22-22487835-C-G		not specified	Uncertain significance (Sep 24, 2024)
22-22487867-T-C		not specified	Uncertain significance (Nov 13, 2024)
22-22488003-G-A		not specified	Uncertain significance (Feb 10, 2022)
22-22488054-A-T		not specified	Uncertain significance (Feb 05, 2024)
22-22488066-T-C		not specified	Uncertain significance (Dec 01, 2022)
22-22488207-G-T		not specified	Uncertain significance (Aug 10, 2021)
22-22488313-G-A		not specified	Likely benign (May 30, 2024)
22-22488368-G-C		not specified	Uncertain significance (Dec 09, 2023)
22-22488378-T-C		not specified	Uncertain significance (Apr 06, 2023)
22-22488444-C-G		not specified	Uncertain significance (Jul 30, 2024)
22-22488462-C-T		Exstrophy-epispadias complex	Conflicting classifications of pathogenicity (Jul 01, 2022)
22-22488511-T-A		not specified	Likely benign (Mar 06, 2023)
22-22488645-T-C		not specified	Uncertain significance (Dec 14, 2021)
22-22488693-G-A		not specified	Uncertain significance (Aug 10, 2021)
22-22488751-A-T		not specified	Uncertain significance (Apr 12, 2024)
22-22488864-C-T		not specified	Uncertain significance (Oct 03, 2022)
22-22488866-A-G		not specified	Likely benign (Jul 12, 2022)
22-22488890-C-A		not specified	Uncertain significance (Nov 24, 2024)
22-22488899-T-C		not specified	Uncertain significance (Mar 25, 2024)
22-22488929-C-T		not specified	Uncertain significance (Dec 15, 2022)
22-22488944-A-G		not specified	Uncertain significance (Sep 04, 2024)
22-22488959-G-A		not specified	Uncertain significance (Oct 20, 2021)
22-22488993-T-C		not specified	Uncertain significance (May 10, 2023)
22-22489013-C-T		not specified	Likely benign (Aug 28, 2024)
22-22489089-C-A		not specified	Uncertain significance (Sep 20, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcription factor.

Recessive Scores

• pRec: 0.0678

Intolerance Scores

• loftool: 0.376
• rvis_EVS: 0.13
• rvis_percentile_EVS: 63.36

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.194

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.982

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp280b

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;metal ion binding