ZNF275

zinc finger protein 275, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): X:153334146-153360110

Links

ENSG00000063587 ∙ NCBI:10838 ∙ ∙ HGNC:13069 ∙ Uniprot:Q9NSD4 ∙ 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 ZNF275 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF275 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			17
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	0	0

Variants in ZNF275

This is a list of pathogenic ClinVar variants found in the ZNF275 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-153345522-G-A		not specified	Uncertain significance (Jan 10, 2023)
X-153346830-G-A		not specified	Uncertain significance (Sep 19, 2022)
X-153346831-C-T		not specified	Likely benign (Apr 23, 2024)
X-153346878-G-A		not specified	Uncertain significance (Apr 12, 2024)
X-153346945-G-T		not specified	Uncertain significance (Sep 29, 2022)
X-153346957-G-A		not specified	Uncertain significance (May 08, 2023)
X-153346993-G-T		not specified	Uncertain significance (Nov 18, 2022)
X-153347034-G-T		not specified	Uncertain significance (Dec 16, 2023)
X-153347059-A-G		not specified	Uncertain significance (May 14, 2024)
X-153347101-G-A		not specified	Uncertain significance (May 15, 2024)
X-153347103-G-C		not specified	Uncertain significance (Jul 27, 2022)
X-153347169-A-G		not specified	Uncertain significance (Jan 23, 2023)
X-153347187-G-A		not specified	Uncertain significance (Jun 21, 2021)
X-153347197-G-T		not specified	Uncertain significance (Feb 16, 2023)
X-153347206-T-C		not specified	Uncertain significance (Apr 04, 2023)
X-153347229-G-A		not specified	Conflicting classifications of pathogenicity (Sep 13, 2023)
X-153347261-G-T		not specified	Uncertain significance (Mar 20, 2023)
X-153347331-C-T		not specified	Uncertain significance (Sep 01, 2021)
X-153347503-C-G		not specified	Uncertain significance (Jan 23, 2024)
X-153347509-G-A		not specified	Uncertain significance (Aug 02, 2023)
X-153347565-G-A		not specified	Uncertain significance (Feb 27, 2023)
X-153347572-C-A		not specified	Uncertain significance (Dec 14, 2023)
X-153347766-C-T		not specified	Uncertain significance (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF275	protein_coding	protein_coding	ENST00000370251	4	25956

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000227	0.764	124666	2	8	124676	0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.966	114	147	0.776	0.0000128	2182
Missense in Polyphen		27	57.386	0.4705		897
Synonymous	0.487	62	67.1	0.924	0.00000665	619
Loss of Function	1.05	7	10.7	0.654	9.51e-7	139

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000239	0.000205
Ashkenazi Jewish	0.00	0.00
East Asian	0.000374	0.000278
Finnish	0.00	0.00
European (Non-Finnish)	0.0000124	0.00000885
Middle Eastern	0.000374	0.000278
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.208
• ghis: 0.506

Essentials

• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp275
• Phenotype: respiratory system phenotype; hematopoietic system phenotype; limbs/digits/tail phenotype; skeleton phenotype; homeostasis/metabolism phenotype

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;metal ion binding