ZNF597

zinc finger protein 597, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 16:3432413-3443504

Links

ENSG00000167981 ∙ NCBI:146434 ∙ OMIM:614685 ∙ HGNC:26573 ∙ Uniprot:Q96LX8 ∙ 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 ZNF597 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF597 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	2
missense			17	3		20
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	3	2

Variants in ZNF597

This is a list of pathogenic ClinVar variants found in the ZNF597 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-3436444-G-A		not specified	Uncertain significance (Dec 06, 2022)
16-3436476-G-A		not specified	Likely benign (Jan 03, 2024)
16-3436498-C-T		not specified	Uncertain significance (Jan 16, 2024)
16-3436531-T-C		not specified	Uncertain significance (May 12, 2024)
16-3436572-T-C		not specified	Uncertain significance (Aug 17, 2021)
16-3436577-G-A			Benign (Dec 31, 2019)
16-3436604-C-G		not specified	Uncertain significance (Aug 04, 2023)
16-3436674-T-C		not specified	Uncertain significance (Aug 22, 2023)
16-3436736-G-A			Benign (Jul 13, 2018)
16-3436741-C-T		not specified	Uncertain significance (Nov 12, 2021)
16-3436791-T-C		not specified	Uncertain significance (Oct 25, 2022)
16-3436828-C-T		not specified	Likely benign (Aug 03, 2022)
16-3436855-T-C		not specified	Uncertain significance (Jul 13, 2021)
16-3437013-C-T		not specified	Uncertain significance (Sep 12, 2023)
16-3437034-C-T		not specified	Uncertain significance (Apr 13, 2022)
16-3437041-T-C		not specified	Uncertain significance (Oct 17, 2023)
16-3437062-T-C		not specified	Uncertain significance (May 06, 2024)
16-3437377-C-G		not specified	Uncertain significance (Dec 01, 2022)
16-3437398-G-T		not specified	Uncertain significance (Jul 21, 2021)
16-3437515-T-G		not specified	Uncertain significance (May 24, 2023)
16-3440862-C-A		not specified	Uncertain significance (Mar 01, 2024)
16-3440925-T-C		not specified	Likely benign (Jul 14, 2023)
16-3443137-G-A		not specified	Uncertain significance (Dec 03, 2021)
16-3443144-T-G		not specified	Uncertain significance (Jun 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF597	protein_coding	protein_coding	ENST00000301744	3	7439

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0656	0.877	125743	0	5	125748	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.541	256	233	1.10	0.0000120	2839
Missense in Polyphen		50	47.74	1.0473		676
Synonymous	-0.773	100	90.6	1.10	0.00000547	758
Loss of Function	1.60	3	7.84	0.382	3.29e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.0000544	0.0000544
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)

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.46

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.174
• ghis: 0.460

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.548

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp597

Gene ontology

• Biological process: negative regulation of transcription, DNA-templated;positive regulation of transcription, DNA-templated;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus;nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;sequence-specific DNA binding;metal ion binding