ZBTB47

zinc finger and BTB domain containing 47, the group of Zinc fingers C2H2-type|BTB domain containing

Basic information

Region (hg38): 3:42653697-42667580

Previous symbols: [ "ZNF651" ]

Links

ENSG00000114853 ∙ NCBI:92999 ∙ OMIM:619969 ∙ HGNC:26955 ∙ Uniprot:Q9UFB7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ZBTB47 gene.

• not_specified (108 variants)
• not_provided (25 variants)
• ZBTB47-related_condition (1 variants)
• ZBTB47-related_disorder (1 variants)
• Seizure (1 variants)
• Neurodevelopmental_delay (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBTB47 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000145166.4. 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				3		3
missense	1		118	6		125
nonsense			2			2
start loss						0
frameshift			3			3
splice donor/acceptor (+/-2bp)						0
Total	1	0	123	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBTB47	protein_coding	protein_coding	ENST00000232974	5	13897

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000169	125592	0	7	125599	0.0000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.45	275	415	0.662	0.0000278	4813
Missense in Polyphen		42	90.888	0.46211		1020
Synonymous	0.232	175	179	0.978	0.0000133	1450
Loss of Function	4.61	0	24.8	0.00	0.00000127	312

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000645	0.0000617
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000545	0.0000545
Finnish	0.0000464	0.0000463
European (Non-Finnish)	0.0000358	0.0000352
Middle Eastern	0.0000545	0.0000545
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

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

Recessive Scores

• pRec: 0.0919

Intolerance Scores

• loftool: 0.202
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.454
• hipred: Y
• hipred_score: 0.691
• ghis: 0.437

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.749

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Zfp651

Gene ontology

• Biological process: regulation of transcription by RNA polymerase II;cellular response to DNA damage stimulus
• Cellular component: nucleus
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;metal ion binding