ZBBX

zinc finger B-box domain containing

Basic information

Region (hg38): 3:167239843-167407874

Links

ENSG00000169064 ∙ NCBI:79740 ∙ ∙ HGNC:26245 ∙ Uniprot:A8MT70 ∙ 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 ZBBX gene.

• not_specified (106 variants)
• not_provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZBBX gene is commonly pathogenic or not. These statistics are base on transcript: NM_001199201.2. 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				2		2
missense			93	13	3	109
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	93	15	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ZBBX	protein_coding	protein_coding	ENST00000455345	19	141060

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.93e-21	0.0528	124256	1	518	124775	0.00208

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.127	381	388	0.982	0.0000179	5507
Missense in Polyphen		79	79.711	0.99108		1222
Synonymous	-0.924	155	141	1.10	0.00000698	1446
Loss of Function	1.25	37	46.1	0.802	0.00000228	642

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00390	0.00389
Ashkenazi Jewish	0.000408	0.000397
East Asian	0.000285	0.000278
Finnish	0.000140	0.000139
European (Non-Finnish)	0.00330	0.00322
Middle Eastern	0.000285	0.000278
South Asian	0.00193	0.00186
Other	0.00135	0.00132

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.943
• rvis_EVS: 2.45
• rvis_percentile_EVS: 98.57

Haploinsufficiency Scores

• pHI: 0.0391
• hipred: N
• hipred_score: 0.173

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0358

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Zbbx

Zebrafish Information Network

• Gene name: zbbx
• Affected structure: ventricular system
• Phenotype tag: abnormal
• Phenotype quality: hydrocephalic

Gene ontology

• Molecular function: zinc ion binding