ZNF281

zinc finger protein 281, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 1:200404940-200410056

Links

ENSG00000162702 ∙ NCBI:23528 ∙ OMIM:618703 ∙ HGNC:13075 ∙ Uniprot:Q9Y2X9 ∙ 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 ZNF281 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF281 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				2	1	3
missense			42			42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	42	2	1

Variants in ZNF281

This is a list of pathogenic ClinVar variants found in the ZNF281 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-200407074-C-T		not specified	Uncertain significance (Nov 21, 2023)
1-200407092-T-A		not specified	Uncertain significance (Mar 30, 2024)
1-200407219-C-A		not specified	Uncertain significance (Oct 25, 2022)
1-200407236-T-C		not specified	Uncertain significance (Mar 30, 2024)
1-200407312-C-G		not specified	Uncertain significance (Sep 27, 2021)
1-200407399-T-C		not specified	Uncertain significance (Oct 26, 2021)
1-200407473-G-A		not specified	Uncertain significance (Dec 28, 2023)
1-200407480-T-G			Likely benign (Dec 01, 2022)
1-200407503-G-A		not specified	Uncertain significance (Apr 04, 2023)
1-200407545-C-T		not specified	Uncertain significance (Jan 05, 2022)
1-200407562-G-T		not specified	Uncertain significance (Jul 19, 2022)
1-200407607-T-C		not specified	Uncertain significance (Oct 05, 2023)
1-200407632-A-C		not specified	Uncertain significance (Mar 01, 2024)
1-200407658-C-T		not specified	Uncertain significance (Mar 25, 2024)
1-200407822-A-C		not specified	Uncertain significance (Sep 25, 2023)
1-200407890-C-T		not specified	Uncertain significance (May 08, 2024)
1-200407913-T-C		not specified	Uncertain significance (Apr 13, 2022)
1-200407966-T-C			Benign (Jul 05, 2018)
1-200407970-G-C		not specified	Uncertain significance (May 23, 2023)
1-200407977-T-C		not specified	Uncertain significance (Jul 13, 2021)
1-200408027-A-T		not specified	Uncertain significance (Jul 26, 2022)
1-200408175-C-T		not specified	Uncertain significance (Sep 15, 2021)
1-200408177-C-T		not specified	Uncertain significance (Nov 22, 2022)
1-200408322-C-A		not specified	Uncertain significance (Aug 22, 2023)
1-200408329-C-A		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF281	protein_coding	protein_coding	ENST00000294740	1	5117

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.996	0.00376	125737	0	3	125740	0.0000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	402	464	0.867	0.0000223	5911
Missense in Polyphen		90	155.23	0.5798		2162
Synonymous	-1.08	198	180	1.10	0.00000912	1734
Loss of Function	4.29	2	25.3	0.0791	0.00000128	358

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000111	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription repressor that plays a role in regulation of embryonic stem cells (ESCs) differentiation. Required for ESCs differentiation and acts by mediating autorepression of NANOG in ESCs: binds to the NANOG promoter and promotes association of NANOG protein to its own promoter and recruits the NuRD complex, which deacetylates histones. Not required for establishement and maintenance of ESCs (By similarity). Represses the transcription of a number of genes including GAST, ODC1 and VIM. Binds to the G- rich box in the enhancer region of these genes. {ECO:0000250, ECO:0000269|PubMed:10448078, ECO:0000269|PubMed:12771217}.
• Pathway: Mesodermal Commitment Pathway (Consensus)

Recessive Scores

• pRec: 0.267

Intolerance Scores

• loftool: 0.189
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.85

Haploinsufficiency Scores

• pHI: 0.942
• hipred: Y
• hipred_score: 0.646
• ghis: 0.543

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.975

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp281
• Phenotype: cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;regulation of transcription, DNA-templated;embryonic body morphogenesis;negative regulation of gene expression;negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;stem cell differentiation
• Cellular component: nucleus;nucleoplasm
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;RNA polymerase II distal enhancer sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;DNA binding;DNA-binding transcription factor activity;transcription corepressor activity;protein binding;sequence-specific DNA binding;transcription regulatory region DNA binding;metal ion binding