ZNF827

protein-coding

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

Gene summary

Enables NuRD complex binding activity. Involved in several processes, including establishment of protein localization to telomere; negative regulation of shelterin complex assembly; and telomere maintenance. Located in chromatin and chromosome, telomeric region. Part of ribonucleoprotein complex. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001306215.2

Inheritance

—

ClinVar variants

U:137B:6

Top phenotype

Autism spectrum disorder

gnomAD constraint

pLI —, LoF o/e 0.11

Max pathogenic AF

—

Genomic locus

chr4:145,757,627-145,938,823

External References & Databases

Ensembl (ENSG00000151612)

Transcript & Mutation Effects

hg38 • Region Span ~181.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF827 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 126

not providedTotal: 5

Autism spectrum disorderTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001306215.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			4 clinvar	1 clinvar	2 clinvar	7
missense			128 clinvar	2 clinvar		130
nonsense			3 clinvar	1 clinvar		4
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	137	4	2	143

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001306215.2	RefSeq	NP_001293144.1	14	MANE Select
ENST00000508784.6	Ensembl	ENSP00000421863.1	14	MANE Select
NM_001410850.1	RefSeq	NP_001397779.1	14	Standard
NM_178835.5	RefSeq	NP_849157.2	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of gene expression

Molecular Function

RNA polymerase II core promoter sequence-specific DNA binding
DNA binding
protein binding
metal ion binding

Cellular Component

nucleus
histone methyltransferase complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379448
Coding exons: 13
Length: 181009
Individuals with no LoFs: 125741
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125748
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.90	487	620	0.785	0.0000357	7055
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000030	0.000029	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000035	0.000035	rare
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.305

Gene Damage Prediction

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