ZNF274

zinc finger protein 274, the group of Zinc fingers C2H2-type|SCAN domain containing

Basic information

Region (hg38): 19:58183029-58213562

Links

ENSG00000171606 ∙ NCBI:10782 ∙ OMIM:605467 ∙ HGNC:13068 ∙ Uniprot:Q96GC6 ∙ 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 ZNF274 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF274 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
missense			6			6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	7	1	0

Variants in ZNF274

This is a list of pathogenic ClinVar variants found in the ZNF274 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-58183987-G-A		not specified	Uncertain significance (Jan 09, 2024)
19-58185754-G-A		not specified	Uncertain significance (Feb 12, 2024)
19-58185833-C-T		not specified	Uncertain significance (Jan 31, 2023)
19-58186990-G-C		not specified	Uncertain significance (Oct 05, 2021)
19-58206761-C-G		not specified	Uncertain significance (Nov 14, 2023)
19-58206786-T-C		not specified	Uncertain significance (Mar 18, 2024)
19-58211625-G-A			Likely benign (Apr 01, 2023)
19-58212356-A-C		not specified	Uncertain significance (Apr 23, 2024)
19-58212387-C-G		not specified	Uncertain significance (Mar 05, 2024)
19-58212451-A-G		not specified	Uncertain significance (Jun 17, 2024)
19-58212848-T-G		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF274	protein_coding	protein_coding	ENST00000326804	8	30533

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.150	0.850	5089	120537	2	125628	0.799

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.09	292	349	0.836	0.0000194	4249
Missense in Polyphen		75	108.64	0.69036		1329
Synonymous	0.923	121	135	0.899	0.00000713	1253
Loss of Function	3.65	7	27.8	0.252	0.00000146	311

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	2.00	1.69
Ashkenazi Jewish	1.00	0.851
East Asian	1.00	0.809
Finnish	1.00	0.855
European (Non-Finnish)	1.00	0.789
Middle Eastern	1.00	0.809
South Asian	1.00	0.839
Other	1.00	0.808

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable transcription repressor. Specifically binds to the 3'-end of zinc-finger coding genes and recruiting chromatin- modifying proteins such as SETDB1 and TRIM28/KAP1, leading to transcription repression. The SETDB1-TRIM28-ZNF274 complex may play a role in recruiting ATRX to the 3'-exons of zinc-finger coding genes with atypical chromatin signatures to establish or maintain/protect H3K9me3 at these transcriptionally active regions (PubMed:27029610). {ECO:0000269|PubMed:10777669, ECO:0000269|PubMed:27029610}.
• Pathway: Neurotrophin signaling pathway - Homo sapiens (human);Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription;p75(NTR)-mediated signaling (Consensus)

Recessive Scores

• pRec: 0.106

Haploinsufficiency Scores

• pHI: 0.0761
• hipred: N
• hipred_score: 0.433
• ghis: 0.484

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 1.00

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp110
• Phenotype: cellular phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; vision/eye phenotype; embryo phenotype; reproductive system phenotype; normal 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: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II;regulation of histone H3-K9 trimethylation;negative regulation of nucleic acid-templated transcription
• Cellular component: nucleolus;cytoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;chromatin binding;DNA-binding transcription factor activity;transcription corepressor activity;protein binding;sequence-specific DNA binding;metal ion binding