ZNF354B

zinc finger protein 354B, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 5:178859952-178888122

Links

ENSG00000178338 ∙ NCBI:117608 ∙ ∙ HGNC:17197 ∙ Uniprot:Q96LW1 ∙ 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 ZNF354B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF354B 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			25	3		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	3	0

Variants in ZNF354B

This is a list of pathogenic ClinVar variants found in the ZNF354B region.

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

Position	Type	Phenotype	Significance	ClinVar
5-178866300-G-T		not specified	Uncertain significance (Dec 13, 2023)
5-178866329-G-A		not specified	Likely benign (Nov 17, 2023)
5-178866339-G-A		not specified	Uncertain significance (Jun 16, 2024)
5-178867033-G-T		not specified	Uncertain significance (Jun 29, 2023)
5-178867049-C-G		not specified	Likely benign (Aug 02, 2023)
5-178867054-C-T		not specified	Uncertain significance (Mar 20, 2023)
5-178882805-A-G		not specified	Uncertain significance (Nov 15, 2021)
5-178882858-G-A		not specified	Uncertain significance (Jun 13, 2024)
5-178882877-A-C		not specified	Uncertain significance (Jul 13, 2021)
5-178882909-A-C		not specified	Uncertain significance (Dec 20, 2023)
5-178882990-G-C		not specified	Uncertain significance (Dec 19, 2023)
5-178883057-T-A		not specified	Uncertain significance (Nov 17, 2023)
5-178883090-G-A		not specified	Uncertain significance (Jan 23, 2023)
5-178883150-A-G		not specified	Uncertain significance (Oct 02, 2023)
5-178883237-G-T		not specified	Uncertain significance (Dec 07, 2021)
5-178883276-G-C		not specified	Uncertain significance (Aug 02, 2021)
5-178883560-C-T		not specified	Uncertain significance (Dec 27, 2022)
5-178883561-G-A		not specified	Uncertain significance (Aug 26, 2022)
5-178883581-A-G		not specified	Uncertain significance (Nov 21, 2022)
5-178883631-G-T		not specified	Uncertain significance (Feb 17, 2024)
5-178883635-G-C		not specified	Uncertain significance (Sep 22, 2022)
5-178883657-G-A		not specified	Uncertain significance (Aug 12, 2021)
5-178883671-G-A		not specified	Uncertain significance (Feb 15, 2023)
5-178883723-G-A		not specified	Uncertain significance (Jul 05, 2023)
5-178883768-A-C		not specified	Likely benign (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF354B	protein_coding	protein_coding	ENST00000322434	4	28170

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000220	0.996	125676	0	72	125748	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.660	280	313	0.895	0.0000150	4051
Missense in Polyphen		67	111.02	0.60349		1428
Synonymous	-1.56	130	109	1.19	0.00000528	1069
Loss of Function	2.52	12	25.8	0.465	0.00000148	341

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000520	0.000514
Ashkenazi Jewish	0.00280	0.00278
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000168	0.000167
Middle Eastern	0.000272	0.000272
South Asian	0.000168	0.000163
Other	0.000658	0.000652

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: 0.109

Intolerance Scores

• loftool: 0.696
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.51

Haploinsufficiency Scores

• pHI: 0.163
• hipred: N
• hipred_score: 0.131
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.331

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp354b

Gene ontology

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