ZNF98

protein-coding

zinc finger protein 98, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001098626.2

Inheritance

—

ClinVar variants

U:91B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.76

Max pathogenic AF

—

Genomic locus

chr19:22,391,019-22,532,485

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~141.5 kb
Loading mutation effect viewer...

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 ZNF98 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 95
not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001098626.2. 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.

EffectPLPVUSLBBSum
synonymous
5
clinvar
5
missense
90
clinvar
5
clinvar
95
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total0091100101
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_001098626.2RefSeqNP_001092096.14MANE Select
ENST00000357774.9EnsemblENSP00000350418.44MANE Select
ENST00000593657.5EnsemblENSP00000470736.13Standard
ENST00000593802.1EnsemblENSP00000472301.13Standard

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
ENST00000357774
Coding exons
4
Length
141467
Individuals with no LoFs
125721
Homozygous LoFs
0
Heterozygous LoFs
21
Defined
125742
p
0.0000835
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.5722652401.100.00001093717
Missense (PolyPhen)96100.70.953281659
Synonymous-0.6129183.91.080.00000378970
Loss of Function0.50345.240.7632.22e-765

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000620.000062rare
Latino/Admixed American0.000220.00017rare
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.0000990.000092rare
European (Non-Finnish)00.0absent
South Asian0.000500.00039rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Essentials

Essential (CRISPR)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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