ZNF547

zinc finger protein 547, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57363477-57379565

Links

ENSG00000152433 ∙ NCBI:284306 ∙ ∙ HGNC:26432 ∙ Uniprot:Q8IVP9 ∙ 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 ZNF547 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF547 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			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				1		1
Total	0	0	27	4	0

Variants in ZNF547

This is a list of pathogenic ClinVar variants found in the ZNF547 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57365022-T-C			Likely benign (Jul 01, 2022)
19-57371803-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-57371867-G-A		not specified	Likely benign (Jun 28, 2022)
19-57377158-C-T		not specified	Uncertain significance (May 24, 2023)
19-57377205-C-T		not specified	Uncertain significance (Aug 14, 2023)
19-57377232-A-T		not specified	Uncertain significance (Apr 24, 2024)
19-57377247-A-C		not specified	Uncertain significance (Jun 08, 2022)
19-57377278-G-A		not specified	Uncertain significance (Jan 31, 2022)
19-57377294-C-T		not specified	Likely benign (Nov 13, 2023)
19-57377295-G-A		not specified	Uncertain significance (Jan 27, 2022)
19-57377323-C-T		not specified	Uncertain significance (Nov 05, 2021)
19-57377332-C-T		not specified	Uncertain significance (Mar 01, 2023)
19-57377346-C-T		not specified	Uncertain significance (Oct 12, 2022)
19-57377365-G-C		not specified	Uncertain significance (Jul 20, 2022)
19-57377376-T-C		not specified	Uncertain significance (Feb 26, 2024)
19-57377395-G-A		not specified	Uncertain significance (Jun 07, 2024)
19-57377398-C-T		not specified	Uncertain significance (Jun 13, 2024)
19-57377425-A-G		not specified	Uncertain significance (Feb 06, 2023)
19-57377427-A-G		not specified	Uncertain significance (Jun 29, 2023)
19-57377464-A-G		not specified	Uncertain significance (Jun 18, 2024)
19-57377545-G-C		not specified	Uncertain significance (Feb 11, 2022)
19-57377547-A-G		not specified	Uncertain significance (Aug 13, 2021)
19-57377574-A-G		not specified	Uncertain significance (Feb 23, 2023)
19-57377611-A-T		not specified	Uncertain significance (Oct 03, 2022)
19-57377640-C-T		not specified	Uncertain significance (Mar 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF547	protein_coding	protein_coding	ENST00000282282	3	16089

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00806	0.575	125719	0	15	125734	0.0000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.228	207	216	0.956	0.0000105	2677
Missense in Polyphen		54	64.87	0.83244		863
Synonymous	-0.230	79	76.4	1.03	0.00000383	730
Loss of Function	0.186	3	3.37	0.891	1.44e-7	37

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000286	0.000285
Ashkenazi Jewish	0.00	0.00
East Asian	0.000326	0.000326
Finnish	0.00	0.00
European (Non-Finnish)	0.00000880	0.00000879
Middle Eastern	0.000326	0.000326
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)

Recessive Scores

• pRec: 0.0980

Intolerance Scores

• loftool: 0.874
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.56

Haploinsufficiency Scores

• pHI: 0.158
• hipred: N
• hipred_score: 0.112
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.462

Gene Damage Prediction

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

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