ZBTB21

zinc finger and BTB domain containing 21, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 21:41986831-42010387

Previous symbols: [ "ZNF295" ]

Links

ENSG00000173276 ∙ NCBI:49854 ∙ OMIM:616485 ∙ HGNC:13083 ∙ Uniprot:Q9ULJ3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZBTB21 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB21 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			55	3		58
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	55	3	0

Variants in ZBTB21

This is a list of pathogenic ClinVar variants found in the ZBTB21 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-41990981-A-G		not specified	Uncertain significance (Feb 12, 2024)
21-41991062-T-C		not specified	Likely benign (Jul 09, 2021)
21-41991067-T-C		not specified	Uncertain significance (Feb 27, 2023)
21-41991125-G-A		not specified	Uncertain significance (Nov 08, 2024)
21-41991139-G-A		not specified	Uncertain significance (Nov 09, 2024)
21-41991154-G-C		not specified	Uncertain significance (Feb 05, 2024)
21-41991160-G-A		not specified	Uncertain significance (Nov 10, 2024)
21-41991163-G-A		not specified	Uncertain significance (Sep 07, 2022)
21-41991164-G-C		not specified	Uncertain significance (Sep 16, 2021)
21-41991181-G-T		not specified	Uncertain significance (Aug 04, 2023)
21-41991199-T-G		not specified	Uncertain significance (Jun 03, 2024)
21-41991391-G-A		not specified	Uncertain significance (Aug 15, 2023)
21-41991527-C-A		not specified	Uncertain significance (Apr 09, 2024)
21-41991553-C-T		not specified	Uncertain significance (Jan 19, 2022)
21-41991578-T-G		not specified	Uncertain significance (Oct 12, 2024)
21-41991584-T-C		not specified	Likely benign (Sep 24, 2024)
21-41991585-G-T		not specified	Uncertain significance (Feb 13, 2024)
21-41991605-C-T		not specified	Uncertain significance (Oct 20, 2024)
21-41991635-T-A		not specified	Uncertain significance (Sep 12, 2024)
21-41991646-T-C		not specified	Uncertain significance (May 23, 2023)
21-41991677-C-T		not specified	Uncertain significance (Oct 09, 2024)
21-41991722-G-A		not specified	Uncertain significance (Apr 25, 2022)
21-41991728-T-C		not specified	Uncertain significance (Sep 27, 2021)
21-41991797-C-T		not specified	Uncertain significance (Apr 13, 2023)
21-41991800-G-C		not specified	Uncertain significance (May 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB21	protein_coding	protein_coding	ENST00000310826	1	23557

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00222	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.512	548	583	0.940	0.0000329	7013
Missense in Polyphen		152	226.7	0.6705		2759
Synonymous	-1.58	270	239	1.13	0.0000151	2100
Loss of Function	4.67	3	31.1	0.0964	0.00000164	423

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000869	0.0000869
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000133	0.000132
Middle Eastern	0.000109	0.000109
South Asian	0.000131	0.000131
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcription repressor. {ECO:0000269|PubMed:15629158}.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• rvis_EVS: -0.1
• rvis_percentile_EVS: 45.68

Haploinsufficiency Scores

• pHI: 0.315
• hipred: Y
• hipred_score: 0.530
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Zbtb21

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleoplasm;cytosol
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;methyl-CpG binding;metal ion binding