ZBTB5

zinc finger and BTB domain containing 5, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 9:37438102-37465450

Links

ENSG00000168795NCBI:9925OMIM:616590HGNC:23836Uniprot:O15062AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZBTB5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB5 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
37
clinvar
1
clinvar
38
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 37 1 0

Variants in ZBTB5

This is a list of pathogenic ClinVar variants found in the ZBTB5 region.

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

Position Type Phenotype Significance ClinVar
9-37440535-G-A not specified Uncertain significance (Jul 14, 2023)2597195
9-37440728-C-G not specified Uncertain significance (May 15, 2024)3333988
9-37440748-G-C not specified Uncertain significance (Oct 26, 2021)2346129
9-37440835-T-A not specified Uncertain significance (Jan 24, 2024)3192171
9-37440852-G-A not specified Uncertain significance (Dec 18, 2024)3818429
9-37440883-A-T not specified Uncertain significance (Jun 29, 2023)2608161
9-37440974-C-A not specified Uncertain significance (Jan 29, 2024)3192170
9-37440990-A-G not specified Uncertain significance (Jul 13, 2021)2370136
9-37441003-A-T not specified Uncertain significance (Mar 28, 2023)2530455
9-37441017-C-T not specified Uncertain significance (Jul 14, 2024)3472381
9-37441296-T-C not specified Likely benign (Aug 30, 2022)2225382
9-37441386-A-G not specified Uncertain significance (Aug 06, 2021)2363966
9-37441413-G-A not specified Uncertain significance (Feb 05, 2025)3818434
9-37441422-C-T not specified Uncertain significance (Jul 26, 2021)2239385
9-37441533-T-C not specified Uncertain significance (Mar 04, 2024)3192169
9-37441549-T-C not specified Uncertain significance (Jan 17, 2025)3818433
9-37441713-G-T not specified Uncertain significance (Aug 21, 2024)3472386
9-37441761-A-G not specified Uncertain significance (Jan 03, 2024)3192179
9-37441765-A-C not specified Uncertain significance (Jan 12, 2024)3192177
9-37441810-C-T not specified Uncertain significance (Nov 15, 2024)3472380
9-37441828-C-G not specified Uncertain significance (Mar 18, 2024)3333987
9-37441905-T-A not specified Uncertain significance (Dec 14, 2021)2266858
9-37441905-T-C not specified Uncertain significance (Jun 21, 2021)2234024
9-37441906-C-A not specified Uncertain significance (Dec 14, 2021)2266856
9-37441926-A-G not specified Uncertain significance (Dec 12, 2024)3818430

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZBTB5protein_codingprotein_codingENST00000307750 127286
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6180.3821257300181257480.0000716
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.233163840.8230.00002214514
Missense in Polyphen94145.950.644041709
Synonymous-0.4501501431.050.000008181343
Loss of Function3.02316.10.1878.81e-7209

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.00009920.0000992
East Asian0.0001090.000109
Finnish0.00004630.0000462
European (Non-Finnish)0.0001060.0000879
Middle Eastern0.0001090.000109
South Asian0.00009800.0000980
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec
0.110

Intolerance Scores

loftool
0.457
rvis_EVS
-0.44
rvis_percentile_EVS
24.46

Haploinsufficiency Scores

pHI
0.317
hipred
Y
hipred_score
0.595
ghis
0.568

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.962

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Zbtb5
Phenotype

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;cellular response to DNA damage stimulus
Cellular component
nucleus
Molecular function
RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;protein binding;metal ion binding