ZNF354C

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

Basic information

Region (hg38): 5:179060373-179083977

Links

ENSG00000177932 ∙ NCBI:30832 ∙ OMIM:619511 ∙ HGNC:16736 ∙ Uniprot:Q86Y25 ∙ 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 ZNF354C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF354C 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			19	1		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	19	1	0

Variants in ZNF354C

This is a list of pathogenic ClinVar variants found in the ZNF354C region.

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

Position	Type	Phenotype	Significance	ClinVar
5-179076472-G-A		not specified	Uncertain significance (Aug 02, 2023)
5-179076485-A-G		not specified	Likely benign (Oct 29, 2021)
5-179076490-G-A		not specified	Uncertain significance (Mar 08, 2024)
5-179076538-A-G		not specified	Uncertain significance (Apr 09, 2024)
5-179077101-A-C		not specified	Uncertain significance (Oct 26, 2022)
5-179078758-T-C		not specified	Uncertain significance (Jun 11, 2021)
5-179078874-G-T		not specified	Uncertain significance (Jun 18, 2021)
5-179078878-C-T		not specified	Uncertain significance (May 24, 2023)
5-179078882-T-G		not specified	Uncertain significance (Jan 31, 2024)
5-179078955-C-A		not specified	Uncertain significance (Mar 07, 2024)
5-179079028-A-G		not specified	Uncertain significance (May 14, 2024)
5-179079076-C-T		not specified	Uncertain significance (Apr 16, 2024)
5-179079117-C-A		not specified	Uncertain significance (Feb 10, 2022)
5-179079127-T-C		not specified	Uncertain significance (May 24, 2023)
5-179079145-A-T		not specified	Uncertain significance (Sep 01, 2021)
5-179079258-G-A		not specified	Uncertain significance (Apr 13, 2022)
5-179079385-A-C		not specified	Uncertain significance (Jun 26, 2023)
5-179079420-T-C		not specified	Uncertain significance (Sep 12, 2023)
5-179079430-G-A		not specified	Uncertain significance (Feb 16, 2023)
5-179079444-A-G		not specified	Uncertain significance (Nov 06, 2023)
5-179079546-G-A		not specified	Uncertain significance (Jul 12, 2023)
5-179079980-A-C		not specified	Uncertain significance (Sep 17, 2021)
5-179080045-C-T		not specified	Uncertain significance (Dec 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF354C	protein_coding	protein_coding	ENST00000315475	4	23123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.11e-10	0.340	125695	0	53	125748	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.336	274	290	0.945	0.0000143	3703
Missense in Polyphen		112	122.38	0.9152		1525
Synonymous	0.279	101	105	0.965	0.00000555	950
Loss of Function	0.918	17	21.6	0.787	0.00000107	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000393	0.000391
Ashkenazi Jewish	0.00	0.00
East Asian	0.00109	0.00109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.00109	0.00109
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May function as a transcription repressor. Binds to 5'- CCACA-3' core sequence. Suppresses osteogenic effects of RUNX2. May be involved in osteoblastic differentiation (By similarity). Plays a role in postnatal myogenesis, may be involved in the regulation of satellite cells self-renewal (By similarity). {ECO:0000250|UniProtKB:Q571J5, ECO:0000250|UniProtKB:Q9EPU7, ECO:0000269|PubMed:15555547}.
• Pathway: Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.752
• rvis_EVS: 1.24
• rvis_percentile_EVS: 93.39

Haploinsufficiency Scores

• pHI: 0.260
• hipred: N
• hipred_score: 0.131
• ghis: 0.439

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.576

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp354c

Gene ontology

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