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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 9.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
`ENST00000613655.1`	`ENSP00000481008.1`	1	-	-
`ENST00000619852.2`	`ENSP00000480958.1`	1	-	-
`ENST00000626650.3`	`ENSP00000485750.1`	1	yes	-
`NM_000080764.4`	`NP_000542942.2`	1	yes	-

Phenotypes

GenCC

Source: genCC

No genCC data.

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ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF280B gene.

not_specified (63 variants)
not_provided (1 variants)
Exstrophy-epispadias_complex (1 variants)

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. These statistics are base on transcript: NM_000080764.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	1 clinvar		2
missense			57 clinvar	6 clinvar		63
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	58	7	0

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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

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap
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

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