ZNF451

zinc finger protein 451, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 6:57086843-57170305

Links

ENSG00000112200 ∙ NCBI:26036 ∙ OMIM:615708 ∙ HGNC:21091 ∙ Uniprot:Q9Y4E5 ∙ 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 ZNF451 gene.

• Inborn genetic diseases (31 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF451 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			30	1		31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	30	2	0

Variants in ZNF451

This is a list of pathogenic ClinVar variants found in the ZNF451 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-57090269-T-C		not specified	Uncertain significance (Aug 28, 2023)
6-57124758-A-G		not specified	Uncertain significance (Jul 15, 2021)
6-57134802-T-G		not specified	Uncertain significance (Dec 15, 2022)
6-57134814-G-A		not specified	Likely benign (Jun 06, 2023)
6-57134841-C-A		not specified	Uncertain significance (Nov 17, 2022)
6-57141306-C-T		not specified	Uncertain significance (Feb 14, 2023)
6-57141375-T-G		not specified	Uncertain significance (Dec 21, 2023)
6-57141971-A-G		not specified	Uncertain significance (Jan 17, 2024)
6-57142007-T-A		not specified	Uncertain significance (Feb 03, 2022)
6-57142047-C-G		not specified	Uncertain significance (Feb 10, 2022)
6-57142065-G-A		not specified	Uncertain significance (Aug 26, 2022)
6-57147169-G-A		not specified	Uncertain significance (Dec 08, 2023)
6-57147287-A-G		not specified	Uncertain significance (Dec 14, 2023)
6-57147316-C-A		not specified	Uncertain significance (Aug 03, 2022)
6-57147445-A-G		not specified	Uncertain significance (Feb 07, 2023)
6-57147600-G-T		not specified	Uncertain significance (Mar 07, 2024)
6-57147602-T-C		not specified	Uncertain significance (Jun 06, 2023)
6-57147646-C-A		not specified	Uncertain significance (Dec 14, 2022)
6-57147685-C-T		not specified	Uncertain significance (Oct 29, 2021)
6-57147773-T-A		not specified	Uncertain significance (Feb 03, 2022)
6-57147815-C-T		not specified	Uncertain significance (Feb 05, 2024)
6-57147987-T-A		not specified	Uncertain significance (Apr 07, 2022)
6-57148019-T-G		not specified	Uncertain significance (Oct 03, 2022)
6-57148028-T-C		not specified	Uncertain significance (Nov 17, 2022)
6-57148067-A-G		not specified	Uncertain significance (Mar 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF451	protein_coding	protein_coding	ENST00000370706	15	83464

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.51e-12	0.997	125636	0	111	125747	0.000441

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.10	467	539	0.866	0.0000264	7124
Missense in Polyphen		187	253.21	0.73853		3312
Synonymous	0.0161	184	184	0.998	0.00000888	1856
Loss of Function	2.79	27	47.8	0.564	0.00000261	644

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000478	0.000478
Ashkenazi Jewish	0.000305	0.000298
East Asian	0.000166	0.000163
Finnish	0.00185	0.00185
European (Non-Finnish)	0.000384	0.000378
Middle Eastern	0.000166	0.000163
South Asian	0.000198	0.000196
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 SUMO-protein ligase; has a preference for SUMO2 and SUMO3 and facilitates UBE2I/UBC9-mediated sumoylation of target proteins (PubMed:26524493, PubMed:26524494). Plays a role in protein SUMO2 modification in response to stress caused by DNA damage and by proteasome inhibitors (in vitro). Required for MCM4 sumoylation (By similarity). Has no activity with SUMO1 (PubMed:26524493). Preferentially transfers an additional SUMO2 chain onto the SUMO2 consensus site 'Lys-11' (PubMed:26524493). Negatively regulates transcriptional activation mediated by the SMAD4 complex in response to TGF-beta signaling. Inhibits EP300- mediated acetylation of histone H3 at 'Lys-9' (PubMed:24324267). Plays a role in regulating the transcription of AR targets (PubMed:18656483). {ECO:0000250|UniProtKB:Q8C0P7, ECO:0000269|PubMed:18656483, ECO:0000269|PubMed:24324267, ECO:0000269|PubMed:26524493, ECO:0000269|PubMed:26524494}.

Recessive Scores

• pRec: 0.0975

Intolerance Scores

• loftool: 0.860
• rvis_EVS: -0.78
• rvis_percentile_EVS: 13.05

Haploinsufficiency Scores

• pHI: 0.321
• hipred: Y
• hipred_score: 0.582
• ghis: 0.659

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.802

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp451
• Phenotype: endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype

Gene ontology

• Biological process: regulation of gene expression;protein sumoylation;negative regulation of transforming growth factor beta receptor signaling pathway;negative regulation of transcription initiation from RNA polymerase II promoter;negative regulation of histone H3-K9 acetylation
• Cellular component: nucleus;PML body;histone methyltransferase complex
• Molecular function: RNA polymerase II core promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;nucleic acid binding;transcription corepressor activity;protein binding;metal ion binding;SUMO ligase activity