ZBTB8A

zinc finger and BTB domain containing 8A, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 1:32539427-32605941

Previous symbols: [ "ZBTB8" ]

Links

ENSG00000160062NCBI:653121OMIM:618742HGNC:24172Uniprot:Q96BR9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZBTB8A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB8A gene is commonly pathogenic or not.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
22
clinvar
1
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 22 1 0

Variants in ZBTB8A

This is a list of pathogenic ClinVar variants found in the ZBTB8A region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-32592995-G-A not specified Uncertain significance (Nov 08, 2022)2374016
1-32593099-T-G not specified Uncertain significance (Nov 25, 2024)3472410
1-32593138-G-T not specified Uncertain significance (Sep 17, 2021)2376285
1-32593148-C-A not specified Uncertain significance (Dec 30, 2023)3192207
1-32593178-G-A not specified Uncertain significance (Dec 10, 2024)2228604
1-32593305-G-A not specified Uncertain significance (Jun 26, 2023)2595566
1-32593361-G-C not specified Uncertain significance (Nov 09, 2022)2325048
1-32593418-C-T not specified Uncertain significance (Dec 15, 2023)3192208
1-32593419-G-A not specified Likely benign (Oct 12, 2022)2375068
1-32593424-C-T not specified Uncertain significance (Jan 26, 2022)2273543
1-32593446-C-G not specified Uncertain significance (Jan 23, 2024)3192209
1-32593458-G-A not specified Uncertain significance (Apr 22, 2022)2285044
1-32593504-G-T not specified Uncertain significance (May 13, 2024)3333999
1-32593562-A-C not specified Uncertain significance (Apr 20, 2023)2539536
1-32593566-A-G not specified Uncertain significance (Dec 01, 2023)3192210
1-32593596-C-G not specified Uncertain significance (Apr 10, 2023)2515803
1-32593617-G-A not specified Uncertain significance (Nov 06, 2023)3192212
1-32593641-C-G not specified Uncertain significance (Apr 17, 2023)2537210
1-32593644-G-A not specified Uncertain significance (Sep 27, 2024)3472413
1-32593709-T-C not specified Uncertain significance (Feb 24, 2022)2392583
1-32593742-A-G not specified Uncertain significance (Nov 10, 2022)2402658
1-32595066-G-A not specified Uncertain significance (Jan 08, 2024)3192213
1-32600174-C-T not specified Uncertain significance (Oct 12, 2024)3472411
1-32600256-T-C not specified Uncertain significance (Apr 25, 2022)2211454
1-32600290-G-T not specified Uncertain significance (Jul 02, 2024)3472412

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZBTB8Aprotein_codingprotein_codingENST00000373510 366513
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004290.9891257290171257460.0000676
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.741702470.6890.00001332932
Missense in Polyphen3893.8420.404941099
Synonymous-0.05648685.31.010.00000428830
Loss of Function2.38717.90.3920.00000119192

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00009040.0000904
Ashkenazi Jewish0.000.00
East Asian0.0001630.000163
Finnish0.00009240.0000924
European (Non-Finnish)0.00007920.0000791
Middle Eastern0.0001630.000163
South Asian0.000.00
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Intolerance Scores

loftool
0.561
rvis_EVS
-0.49
rvis_percentile_EVS
22.36

Haploinsufficiency Scores

pHI
0.402
hipred
Y
hipred_score
0.562
ghis
0.503

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.563

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Zbtb8a
Phenotype

Gene ontology

Biological process
biological_process
Cellular component
cellular_component;nucleus
Molecular function
molecular_function;DNA binding;protein binding;metal ion binding