ZBTB11

zinc finger and BTB domain containing 11, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 3:101648889-101677135

Links

ENSG00000066422 ∙ NCBI:27107 ∙ OMIM:618181 ∙ HGNC:16740 ∙ Uniprot:O95625 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• intellectual developmental disorder, autosomal recessive 69 (Strong), mode of inheritance: AR
• intellectual developmental disorder, autosomal recessive 69 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Neurologic	29893856

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZBTB11 gene.

• not_specified (88 variants)
• not_provided (28 variants)
• Intellectual_developmental_disorder,_autosomal_recessive_69 (17 variants)
• ZBTB11-related_disorder (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB11 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014415.4. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				16		16
missense	7		97	6		110
nonsense	2		4			6
start loss						0
frameshift	2		2			4
splice donor/acceptor (+/-2bp)			1			1
Total	11	0	104	22	0

Highest pathogenic variant AF is 0.000005580959

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB11	protein_coding	protein_coding	ENST00000312938	11	28607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000320	1.00	125709	0	39	125748	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.05	424	560	0.757	0.0000282	6858
Missense in Polyphen		149	255.03	0.58425		3058
Synonymous	-1.66	232	202	1.15	0.0000100	2003
Loss of Function	4.20	19	51.5	0.369	0.00000303	622

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000151	0.000151
Ashkenazi Jewish	0.000203	0.000198
East Asian	0.000219	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.000209	0.000202
Middle Eastern	0.000219	0.000217
South Asian	0.000165	0.000163
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in transcriptional regulation.

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.641
• rvis_EVS: -1.3
• rvis_percentile_EVS: 4.92

Haploinsufficiency Scores

• pHI: 0.350
• hipred: Y
• hipred_score: 0.575
• ghis: 0.655

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.940

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb11

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;biological_process
• Cellular component: nucleoplasm
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;metal ion binding