ZNF549

zinc finger protein 549, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57527325-57557542

Links

ENSG00000121406 ∙ NCBI:256051 ∙ ∙ HGNC:26632 ∙ Uniprot:Q6P9A3 ∙ 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 ZNF549 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF549 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			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	32	0	0

Variants in ZNF549

This is a list of pathogenic ClinVar variants found in the ZNF549 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57535148-A-G		not specified	Uncertain significance (Mar 14, 2023)
19-57535154-C-A		not specified	Uncertain significance (Mar 25, 2022)
19-57537212-C-G		not specified	Uncertain significance (Nov 18, 2023)
19-57537284-C-G		not specified	Uncertain significance (Nov 19, 2022)
19-57537422-T-G		not specified	Uncertain significance (Sep 16, 2021)
19-57537515-A-C		not specified	Uncertain significance (Jun 29, 2023)
19-57537542-A-T		not specified	Uncertain significance (Feb 15, 2023)
19-57537543-A-G		not specified	Uncertain significance (Nov 18, 2023)
19-57537581-A-G		not specified	Uncertain significance (Jun 27, 2022)
19-57537681-A-C		not specified	Uncertain significance (Feb 16, 2023)
19-57537750-G-A		not specified	Uncertain significance (Sep 12, 2023)
19-57537750-G-C		not specified	Uncertain significance (Jan 24, 2023)
19-57537773-A-T		not specified	Uncertain significance (Jun 06, 2023)
19-57537978-C-T		not specified	Uncertain significance (Dec 16, 2023)
19-57538028-C-T		not specified	Uncertain significance (May 10, 2024)
19-57538073-G-A		not specified	Uncertain significance (Sep 14, 2022)
19-57538130-C-T		not specified	Uncertain significance (Jun 13, 2023)
19-57538134-T-C		not specified	Uncertain significance (Dec 01, 2022)
19-57538137-G-A		not specified	Uncertain significance (May 02, 2024)
19-57538233-T-G		not specified	Uncertain significance (Jun 07, 2023)
19-57538236-A-G		not specified	Uncertain significance (Oct 26, 2022)
19-57538237-C-A		not specified	Uncertain significance (Aug 01, 2022)
19-57538254-A-T		not specified	Uncertain significance (Nov 15, 2023)
19-57538349-A-G		not specified	Uncertain significance (Mar 16, 2022)
19-57538370-C-T		not specified	Uncertain significance (Apr 14, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF549	protein_coding	protein_coding	ENST00000376233	4	30218

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00278	0.587	114687	0	6	114693	0.0000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.143	329	336	0.978	0.0000163	4257
Missense in Polyphen		72	95.02	0.75774		1212
Synonymous	0.387	118	123	0.956	0.00000627	1135
Loss of Function	0.367	4	4.87	0.821	2.08e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000215	0.000215
Ashkenazi Jewish	0.00	0.00
East Asian	0.000114	0.000114
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000114	0.000114
South Asian	0.00	0.00
Other	0.000171	0.000171

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: 0.51
• rvis_percentile_EVS: 80.24

Haploinsufficiency Scores

• pHI: 0.136
• hipred: N
• hipred_score: 0.112
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.232

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