ZNF827

zinc finger protein 827, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 4:145757626-145938823

Links

ENSG00000151612 ∙ NCBI:152485 ∙ OMIM:617962 ∙ HGNC:27193 ∙ Uniprot:Q17R98 ∙ 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 ZNF827 gene.

• Inborn genetic diseases (42 variants)
• not provided (4 variants)
• Autism spectrum disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF827 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					2	2
missense			42			42
nonsense			2	1		3
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	1	2

Variants in ZNF827

This is a list of pathogenic ClinVar variants found in the ZNF827 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-145764998-C-T		not specified	Uncertain significance (Mar 02, 2023)
4-145765160-C-T		not specified	Uncertain significance (Dec 21, 2023)
4-145765592-G-A		not specified	Uncertain significance (Aug 14, 2023)
4-145765709-T-C		not specified	Uncertain significance (Dec 27, 2023)
4-145765711-G-A		not specified	Uncertain significance (Oct 29, 2021)
4-145774521-C-T		not specified	Uncertain significance (Jun 13, 2023)
4-145774583-G-A		not specified	Uncertain significance (Aug 02, 2021)
4-145774648-G-A			Benign (Mar 30, 2018)
4-145775835-C-T		not specified	Uncertain significance (Sep 22, 2023)
4-145775948-T-C		not specified	Uncertain significance (May 26, 2023)
4-145779412-C-T		not specified	Uncertain significance (Mar 29, 2022)
4-145779434-C-T		not specified	Uncertain significance (Oct 22, 2021)
4-145823454-T-A		not specified	Uncertain significance (Feb 28, 2023)
4-145823461-G-C		not specified	Uncertain significance (Dec 15, 2022)
4-145823489-T-A			Benign (Mar 30, 2018)
4-145823496-T-G		not specified	Uncertain significance (Dec 14, 2022)
4-145849345-G-T		not specified	Uncertain significance (Sep 26, 2023)
4-145849389-TG-T			Uncertain significance (Jan 07, 2021)
4-145849409-G-A		not specified	Uncertain significance (Feb 27, 2023)
4-145849411-A-G		not specified	Uncertain significance (Oct 12, 2021)
4-145849438-C-T		not specified	Uncertain significance (Jul 06, 2021)
4-145849505-C-T		not specified	Uncertain significance (Oct 14, 2023)
4-145870356-A-G		not specified	Likely benign (Dec 01, 2023)
4-145870391-C-G		not specified	Uncertain significance (Sep 16, 2021)
4-145870404-T-C		not specified	Likely benign (Nov 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZNF827	protein_coding	protein_coding	ENST00000379448	13	181009

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000351	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.90	487	620	0.785	0.0000357	7055
Missense in Polyphen		191	291.79	0.65458		3420
Synonymous	-0.219	269	264	1.02	0.0000171	2130
Loss of Function	5.51	5	44.9	0.111	0.00000233	558

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000297	0.0000297
Ashkenazi Jewish	0.000102	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation. {ECO:0000250}.

Intolerance Scores

• loftool: 0.0133
• rvis_EVS: -2.17
• rvis_percentile_EVS: 1.41

Haploinsufficiency Scores

• pHI: 0.569
• hipred: Y
• hipred_score: 0.602
• ghis: 0.602

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.305

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp827

Gene ontology

• Biological process: regulation of gene expression
• Cellular component: nucleus;histone methyltransferase complex
• Molecular function: RNA polymerase II core promoter sequence-specific DNA binding;DNA binding;protein binding;metal ion binding