ZBTB22

zinc finger and BTB domain containing 22, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 6:33314406-33317942

Previous symbols: [ "ZNF297" ]

Links

ENSG00000236104OMIM:611439HGNC:13085Uniprot:O15209AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZBTB22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB22 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
20
clinvar
1
clinvar
21
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 20 0 1

Variants in ZBTB22

This is a list of pathogenic ClinVar variants found in the ZBTB22 region.

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

Position Type Phenotype Significance ClinVar
6-33315026-C-T not specified Uncertain significance (Feb 28, 2023)2491007
6-33315029-C-G not specified Uncertain significance (Aug 08, 2022)3191960
6-33315044-T-C not specified Uncertain significance (Apr 06, 2024)3333888
6-33315091-G-A not specified Uncertain significance (Aug 28, 2023)2621790
6-33315143-A-T not specified Uncertain significance (Aug 02, 2021)2210708
6-33315194-C-T not specified Uncertain significance (Jun 10, 2022)2365308
6-33315215-G-A not specified Uncertain significance (Jun 21, 2023)2604988
6-33315490-C-T not specified Uncertain significance (Oct 14, 2023)3191958
6-33315518-G-A not specified Uncertain significance (Feb 07, 2023)2482243
6-33315523-C-T not specified Uncertain significance (Jun 22, 2021)2234493
6-33315528-G-C not specified Uncertain significance (Jan 31, 2024)3191957
6-33315581-C-T not specified Uncertain significance (Mar 14, 2023)2496161
6-33315630-G-C not specified Uncertain significance (Sep 22, 2023)3191956
6-33315674-G-A not specified Uncertain significance (Oct 04, 2022)2343136
6-33315691-G-C not specified Uncertain significance (Apr 12, 2024)3333887
6-33315695-C-G not specified Uncertain significance (Jul 12, 2023)2588049
6-33315745-C-A not specified Uncertain significance (Jan 19, 2022)3191955
6-33315755-C-T not specified Uncertain significance (Oct 24, 2023)3191954
6-33315847-C-T not specified Uncertain significance (May 17, 2023)2548073
6-33315899-G-C not specified Uncertain significance (May 18, 2023)2548824
6-33315971-C-A not specified Uncertain significance (Oct 21, 2021)2384987
6-33315989-T-C not specified Benign (Mar 28, 2016)403519
6-33316330-C-T not specified Uncertain significance (Jun 09, 2022)2388649

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ZBTB22protein_codingprotein_codingENST00000431845 13537
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.2190.7791257320141257460.0000557
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.862823850.7330.00002274052
Missense in Polyphen59142.490.414071553
Synonymous-0.1421691671.010.00001051458
Loss of Function2.75415.80.2530.00000112144

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001880.000181
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004660.0000462
European (Non-Finnish)0.00006170.0000615
Middle Eastern0.000.00
South Asian0.00006530.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec
0.0941

Intolerance Scores

loftool
0.459
rvis_EVS
0.18
rvis_percentile_EVS
66.07

Haploinsufficiency Scores

pHI
0.168
hipred
Y
hipred_score
0.572
ghis
0.506

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.912

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Zbtb22
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;protein binding;metal ion binding