ZNF248

zinc finger protein 248, the group of Zinc fingers C2H2-type

Basic information

Region (hg38): 10:37776526-37858106

Links

ENSG00000198105NCBI:57209HGNC:13041Uniprot:Q8NDW4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZNF248 gene.

  • not_specified (52 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZNF248 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000021045.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
48
clinvar
4
clinvar
52
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 48 4 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZNF248protein_codingprotein_codingENST00000395867 455284
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3260.6741257160321257480.000127
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4832682910.9200.00001383876
Missense in Polyphen5698.2250.570121328
Synonymous0.677951040.9150.00000521983
Loss of Function3.32521.70.2310.00000101337

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002350.000235
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.0002320.000231
European (Non-Finnish)0.0001590.000158
Middle Eastern0.00005440.0000544
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;
Pathway
Gene expression (Transcription);Generic Transcription Pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

pRec
0.0947

Intolerance Scores

loftool
0.564
rvis_EVS
-0.31
rvis_percentile_EVS
32.06

Haploinsufficiency Scores

pHI
0.182
hipred
N
hipred_score
0.383
ghis
0.575

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0215

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Zfp248
Phenotype

Gene ontology

Biological process
regulation of transcription by RNA polymerase II
Cellular component
nucleus
Molecular function
DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding