ZNF595

zinc finger protein 595, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 4:53286-88208

Links

ENSG00000272602 ∙ NCBI:152687 ∙ ∙ HGNC:27196 ∙ Uniprot:Q8IYB9 ∙ 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 ZNF595 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF595 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			4	2		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	4	3	0

Variants in ZNF595

This is a list of pathogenic ClinVar variants found in the ZNF595 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-59555-G-C			Likely benign (Jan 01, 2024)
4-85781-G-T		not specified	Uncertain significance (May 15, 2024)
4-85799-A-G		not specified	Likely benign (Dec 14, 2022)
4-85805-A-C		not specified	Uncertain significance (Jun 18, 2024)
4-85829-G-A		not specified	Uncertain significance (Feb 28, 2023)
4-85866-A-G		not specified	Uncertain significance (Nov 07, 2022)
4-85877-G-A		not specified	Uncertain significance (Apr 24, 2024)
4-85892-A-T		not specified	Likely benign (Apr 18, 2023)
4-85997-A-G		not specified	Uncertain significance (Jan 26, 2022)
4-86075-AC-A			not provided (-)
4-86078-G-GA			not provided (-)
4-86303-A-C			Likely benign (Aug 01, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.287
• hipred: N
• hipred_score: 0.112

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: Zfp595

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