ZNF273

zinc finger protein 273, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 7:64870172-64930981

Links

ENSG00000198039 ∙ NCBI:10793 ∙ OMIM:604756 ∙ HGNC:13067 ∙ Uniprot:Q14593 ∙ 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 ZNF273 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF273 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			43			43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	43	0	0

Variants in ZNF273

This is a list of pathogenic ClinVar variants found in the ZNF273 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-64903325-C-G		not specified	Uncertain significance (Dec 12, 2024)
7-64903331-C-T		not specified	Uncertain significance (Feb 02, 2025)
7-64903403-C-A		not specified	Uncertain significance (Apr 12, 2024)
7-64917582-G-A		not specified	Uncertain significance (Jan 01, 2025)
7-64917600-A-G		not specified	Uncertain significance (Jan 10, 2025)
7-64917647-T-G		not specified	Likely benign (Feb 08, 2025)
7-64918205-G-A		not specified	Uncertain significance (Jan 02, 2024)
7-64918257-A-T		not specified	Uncertain significance (Sep 07, 2022)
7-64918287-C-T		not specified	Uncertain significance (Mar 25, 2024)
7-64927660-G-A		not specified	Uncertain significance (May 11, 2022)
7-64927741-A-T		not specified	Uncertain significance (May 21, 2024)
7-64927753-A-G		not specified	Uncertain significance (Jan 26, 2022)
7-64927838-G-C		not specified	Uncertain significance (Sep 03, 2024)
7-64927941-C-G		not specified	Uncertain significance (Oct 13, 2023)
7-64927971-T-G		not specified	Uncertain significance (Dec 28, 2023)
7-64927972-G-A		not specified	Uncertain significance (Aug 12, 2024)
7-64928032-A-C		not specified	Uncertain significance (Feb 25, 2025)
7-64928038-A-G		not specified	Uncertain significance (Jan 26, 2022)
7-64928045-T-G		not specified	Uncertain significance (Aug 09, 2021)
7-64928060-C-A		not specified	Uncertain significance (Dec 05, 2022)
7-64928080-A-T		not specified	Uncertain significance (Aug 10, 2023)
7-64928088-A-G		not specified	Uncertain significance (Jan 01, 2025)
7-64928146-A-G		not specified	Uncertain significance (May 05, 2023)
7-64928176-T-G		not specified	Uncertain significance (Dec 21, 2023)
7-64928197-A-G		not specified	Uncertain significance (Dec 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF273	protein_coding	protein_coding	ENST00000476120	4	60795

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0271	0.806	122623	0	3	122626	0.0000122

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.384	269	287	0.936	0.0000129	3740
Missense in Polyphen		88	115.47	0.76208		1535
Synonymous	0.142	98	99.8	0.982	0.00000448	1023
Loss of Function	1.05	3	5.71	0.526	2.41e-7	69

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000567	0.0000566
Finnish	0.00	0.00
European (Non-Finnish)	0.0000181	0.0000180
Middle Eastern	0.0000567	0.0000566
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.0920

Intolerance Scores

• loftool: 0.919
• rvis_EVS: 0.53
• rvis_percentile_EVS: 80.88

Haploinsufficiency Scores

• pHI: 0.553
• hipred: N
• hipred_score: 0.112
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.850

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
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;protein binding;metal ion binding