ZNF845

protein-coding

zinc finger protein 845, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable transcription cis-regulatory region binding activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_138374.3

Inheritance

—

ClinVar variants

U:153B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.23

Max pathogenic AF

—

Genomic locus

chr19:53,333,749-53,356,906

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~23.2 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 ZNF845 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 158
not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_138374.3. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
153
clinvar
5
clinvar
1
clinvar
159
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total0015361160
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_138374.3RefSeqNP_612383.13MANE Select
ENST00000458035.3EnsemblENSP00000388311.13MANE Select
NM_001321522.2RefSeqNP_001308451.13Standard
NM_001321523.2RefSeqNP_001308452.13Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

  • regulation of transcription by RNA polymerase II

Molecular Function

  • DNA-binding transcription factor activity, RNA polymerase II-specific
  • DNA binding
  • metal ion binding

Cellular Component

  • nucleus

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000458035
Coding exons
3
Length
21121
Individuals with no LoFs
125699
Homozygous LoFs
0
Heterozygous LoFs
46
Defined
125745
p
0.000183
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.1215205121.010.00002726466
Missense (PolyPhen)195212.860.916082859
Synonymous-0.7261841721.070.000008491682
Loss of Function-0.39143.241.231.38e-735

Population LoF Frequency

PopulationCAFp-valueStatus
African00.0absent
Latino/Admixed American0.000170.00017rare
Ashkenazi Jewish00.0absent
East Asian0.0000540.000054rare
Finnish00.0absent
European (Non-Finnish)0.00000880.0000088rare
South Asian0.00130.0012notable
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

RVIS EVS
1.84
RVIS percentile EVS
97.09

Essentials

Essential (CRISPR)
N
Indispensability pred.
N
Indispensability score
0.276

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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