ZNF77

protein-coding

zinc finger protein 77, 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 transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_021217.3

Inheritance

—

ClinVar variants

U:115B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr19:2,933,218-2,944,971

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~11.8 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 ZNF77 variants in ClinVar

2 Conditions Cataloged
not specifiedTotal: 116
not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_021217.3. 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
2
clinvar
1
clinvar
3
missense
114
clinvar
2
clinvar
1
clinvar
117
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total0011543122
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_021217.3RefSeqNP_067040.14MANE Select
ENST00000314531.5EnsemblENSP00000319053.34MANE Select
NM_001426550.1RefSeqNP_001413479.11Standard
ENST00000863233.1EnsemblENSP00000533292.14Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Gene expression (Transcription)
  • Generic Transcription Pathway
  • RNA Polymerase II Transcription

Biological Process

  • regulation of transcription by RNA polymerase II
  • biological_process

Molecular Function

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

Cellular Component

  • nucleus

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000314531
Coding exons
4
Length
11754
Individuals with no LoFs
121106
Homozygous LoFs
89
Heterozygous LoFs
4551
Defined
125746
p
0.0186
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.3393303131.050.00001743595
Missense (PolyPhen)9293.1130.988041106
Synonymous-0.8811351231.100.00000815979
Loss of Function0.67745.750.6952.43e-770

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0130.013notable
Latino/Admixed American0.0250.024notable
Ashkenazi Jewish0.00960.0096notable
East Asian0.0770.067notable
Finnish0.0160.016notable
European (Non-Finnish)0.0160.015notable
South Asian0.00540.0053notable
Other0.0210.020notable

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec
0.182

Intolerance Scores

LoFtool
0.958
RVIS EVS
1.54
RVIS percentile EVS
95.57

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
E
Indispensability score
0.552

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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