ZNF296

zinc finger protein 296, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:45071499-45076478

Previous symbols: [ "ZNF342" ]

Links

ENSG00000170684 ∙ NCBI:162979 ∙ OMIM:613226 ∙ HGNC:15981 ∙ Uniprot:Q8WUU4 ∙ 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 ZNF296 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF296 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			23	3		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	3	0

Variants in ZNF296

This is a list of pathogenic ClinVar variants found in the ZNF296 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-45071617-G-A		not specified	Likely benign (Feb 02, 2024)
19-45071650-A-C		not specified	Uncertain significance (Mar 06, 2023)
19-45071759-C-T		not specified	Uncertain significance (Apr 25, 2022)
19-45071812-C-T		not specified	Uncertain significance (Aug 17, 2021)
19-45071932-C-G		not specified	Uncertain significance (Oct 11, 2021)
19-45072118-G-A		not specified	Uncertain significance (Aug 21, 2023)
19-45072148-G-A		not specified	Uncertain significance (Sep 22, 2023)
19-45072152-C-T		not specified	Uncertain significance (Oct 25, 2023)
19-45072160-A-T		not specified	Uncertain significance (Mar 27, 2023)
19-45072163-G-T		not specified	Uncertain significance (Nov 09, 2021)
19-45072196-T-A		not specified	Uncertain significance (Jan 04, 2024)
19-45072356-C-T		not specified	Likely benign (Sep 17, 2021)
19-45072425-C-A		not specified	Uncertain significance (Mar 16, 2022)
19-45072437-C-T		not specified	Uncertain significance (Dec 08, 2021)
19-45072445-G-A		not specified	Uncertain significance (Dec 03, 2021)
19-45072454-G-C		not specified	Uncertain significance (Apr 12, 2024)
19-45072473-G-C		not specified	Uncertain significance (Jan 17, 2023)
19-45072557-T-C		not specified	Uncertain significance (May 13, 2024)
19-45075853-G-A		not specified	Uncertain significance (Apr 12, 2022)
19-45076079-G-A		not specified	Uncertain significance (Jan 26, 2022)
19-45076088-G-A		not specified	Uncertain significance (Jan 22, 2024)
19-45076108-G-T		not specified	Uncertain significance (Sep 21, 2023)
19-45076159-G-A		not specified	Uncertain significance (Jan 16, 2024)
19-45076238-G-A		not specified	Uncertain significance (Jan 07, 2022)
19-45076252-T-C		not specified	Likely benign (Jun 22, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF296	protein_coding	protein_coding	ENST00000303809	3	5089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.959	0.0409	125723	0	5	125728	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.61	226	305	0.741	0.0000198	3036
Missense in Polyphen		61	109.14	0.55892		1028
Synonymous	-0.436	138	132	1.05	0.00000889	1005
Loss of Function	3.27	1	14.4	0.0695	6.91e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000112	0.0000992
East Asian	0.000110	0.0000544
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.00000906	0.00000879
Middle Eastern	0.000110	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a transcriptional corepressor with KLF4. {ECO:0000250|UniProtKB:E9Q6W4}.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.0381
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.65

Haploinsufficiency Scores

• pHI: 0.245
• hipred: N
• hipred_score: 0.455
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.358

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp296

Gene ontology

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