ZNF775

protein-coding

zinc finger protein 775, 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 transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_173680.4

Inheritance

—

ClinVar variants

U:110B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.46

Max pathogenic AF

—

Genomic locus

chr7:150,368,790-150,398,630

External References & Databases

Transcript & Mutation Effects

hg38 • Region Span ~29.8 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 ZNF775 variants in ClinVar

1 Conditions Cataloged
not specifiedTotal: 115

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_173680.4. 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
0
missense
110
clinvar
5
clinvar
115
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total0011050115
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 37 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_173680.4RefSeqNP_775951.22MANE Select
ENST00000329630.10EnsemblENSP00000330838.52MANE Select
ENST00000478789.5EnsemblENSP00000419336.12Standard
ENST00000490973.1EnsemblENSP00000417483.12Standard

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

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
ENST00000329630
Coding exons
2
Length
43680
Individuals with no LoFs
123551
Homozygous LoFs
0
Heterozygous LoFs
15
Defined
123566
p
0.0000607
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense1.492643420.7730.00002763376
Missense (PolyPhen)103165.670.621711517
Synonymous1.021371530.8960.00001271101
Loss of Function2.10817.50.4589.06e-7169

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000140.00013rare
Latino/Admixed American0.0000610.000058rare
Ashkenazi Jewish0.000100.00010rare
East Asian0.0000570.000056rare
Finnish00.0absent
European (Non-Finnish)0.0000690.000063rare
South Asian0.0000690.000065rare
Other00.0absent

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.411

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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