ZBTB34

zinc finger and BTB domain containing 34, the group of BTB domain containing|Zinc fingers C2H2-type

Basic information

Region (hg38): 9:126860639-126885878

Links

ENSG00000177125 ∙ NCBI:403341 ∙ OMIM:611692 ∙ HGNC:31446 ∙ Uniprot:Q8NCN2 ∙ 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 ZBTB34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB34 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			23			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	23	0	0

Variants in ZBTB34

This is a list of pathogenic ClinVar variants found in the ZBTB34 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-126879815-A-C		not specified	Uncertain significance (Dec 14, 2021)
9-126879878-T-C		not specified	Uncertain significance (Sep 12, 2023)
9-126879887-ACC-A		Neurodevelopmental disorder	Uncertain significance (Jun 19, 2024)
9-126879925-C-T		not specified	Uncertain significance (Aug 08, 2022)
9-126879962-C-T		not specified	Uncertain significance (Dec 09, 2023)
9-126879992-T-C		not specified	Uncertain significance (Nov 10, 2022)
9-126880202-G-T		not specified	Uncertain significance (Nov 08, 2024)
9-126880220-T-C		not specified	Uncertain significance (Dec 28, 2022)
9-126880285-C-T		not specified	Uncertain significance (Sep 14, 2022)
9-126880294-G-C		not specified	Uncertain significance (Sep 27, 2024)
9-126880360-G-A		not specified	Uncertain significance (Aug 14, 2024)
9-126880366-C-T		not specified	Uncertain significance (Nov 23, 2022)
9-126880367-G-A		not specified	Uncertain significance (Oct 17, 2023)
9-126880369-G-T		not specified	Uncertain significance (Sep 26, 2023)
9-126880373-G-A		not specified	Uncertain significance (Feb 05, 2024)
9-126880441-G-A		not specified	Uncertain significance (Dec 17, 2023)
9-126880459-C-T		not specified	Uncertain significance (Mar 07, 2024)
9-126880486-A-G		not specified	Uncertain significance (Apr 18, 2023)
9-126880487-G-A		not specified	Uncertain significance (Jun 29, 2022)
9-126880489-A-C		not specified	Uncertain significance (Feb 01, 2023)
9-126880493-C-G		not specified	Uncertain significance (Aug 26, 2022)
9-126880511-C-A		not specified	Uncertain significance (Dec 09, 2023)
9-126880579-C-T		not specified	Uncertain significance (Aug 08, 2023)
9-126880607-C-A		not specified	Uncertain significance (Aug 30, 2021)
9-126880610-T-A		not specified	Uncertain significance (Sep 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB34	protein_coding	protein_coding	ENST00000373452	1	25214

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.977	0.0234	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.81	168	307	0.548	0.0000191	3321
Missense in Polyphen		21	127.09	0.16524		1403
Synonymous	-0.515	131	124	1.06	0.00000813	973
Loss of Function	3.47	1	15.9	0.0628	0.00000100	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be a transcriptional repressor. {ECO:0000269|PubMed:16718364}.

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.183
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.68

Haploinsufficiency Scores

• pHI: 0.606
• hipred: Y
• hipred_score: 0.740
• ghis: 0.627

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.945

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zbtb34

Gene ontology

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