ZNF551

zinc finger protein 551, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 19:57681969-57717301

Links

ENSG00000204519 ∙ NCBI:90233 ∙ ∙ HGNC:25108 ∙ Uniprot:Q7Z340 ∙ 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 ZNF551 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF551 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			38	2		40
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	2	0

Variants in ZNF551

This is a list of pathogenic ClinVar variants found in the ZNF551 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-57682243-A-G		not specified	Uncertain significance (Aug 08, 2023)
19-57685262-G-C		not specified	Uncertain significance (Apr 28, 2023)
19-57685346-G-A		not specified	Uncertain significance (Mar 25, 2024)
19-57686580-A-G		not specified	Uncertain significance (Dec 09, 2023)
19-57686585-A-C		not specified	Uncertain significance (Jan 07, 2022)
19-57686631-C-T		not specified	Likely benign (Jan 08, 2024)
19-57686741-G-A		not specified	Uncertain significance (Nov 18, 2023)
19-57686837-C-G		not specified	Uncertain significance (Sep 13, 2023)
19-57686847-C-T		not specified	Likely benign (May 24, 2024)
19-57686863-C-G		not specified	Uncertain significance (Aug 02, 2022)
19-57686864-G-A		not specified	Uncertain significance (Dec 16, 2023)
19-57686882-G-A		not specified	Uncertain significance (Apr 25, 2022)
19-57686895-G-C		not specified	Uncertain significance (Sep 16, 2021)
19-57686901-G-C		not specified	Uncertain significance (Sep 22, 2023)
19-57686907-A-C		not specified	Uncertain significance (Nov 18, 2023)
19-57686918-G-A		not specified	Uncertain significance (Jul 26, 2023)
19-57686952-G-T		not specified	Uncertain significance (Dec 20, 2023)
19-57686995-G-C		not specified	Uncertain significance (Jun 23, 2021)
19-57687021-G-A		not specified	Uncertain significance (Dec 02, 2022)
19-57687037-C-A		not specified	Uncertain significance (Nov 18, 2023)
19-57687170-A-G		not specified	Uncertain significance (Mar 01, 2023)
19-57687209-C-T		not specified	Likely benign (May 09, 2023)
19-57687210-G-A		not specified	Uncertain significance (Feb 21, 2024)
19-57687258-G-A		not specified	Uncertain significance (Jan 16, 2024)
19-57687276-G-A		not specified	Uncertain significance (May 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF551	protein_coding	protein_coding	ENST00000282296	3	35333

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0550	0.720	125725	0	6	125731	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.225	360	348	1.03	0.0000186	4507
Missense in Polyphen		96	86.575	1.1089		1204
Synonymous	-1.12	138	122	1.13	0.00000632	1191
Loss of Function	0.741	2	3.50	0.572	1.49e-7	39

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
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)

Intolerance Scores

• rvis_EVS: 0.05
• rvis_percentile_EVS: 57.48

Haploinsufficiency Scores

• pHI: 0.0523
• hipred: N
• hipred_score: 0.112
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0390

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp551

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