BZW1

basic leucine zipper and W2 domains 1

Basic information

Region (hg38): 2:200810593-200827338

Links

ENSG00000082153 ∙ NCBI:9689 ∙ OMIM:619252 ∙ HGNC:18380 ∙ Uniprot:Q7L1Q6 ∙ 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 BZW1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BZW1 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6	1		7
Total	0	0	17	1	0

Variants in BZW1

This is a list of pathogenic ClinVar variants found in the BZW1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-200812417-G-T		not specified	Uncertain significance (Jun 21, 2023)
2-200812420-C-G		not specified	Likely benign (Sep 29, 2022)
2-200812421-C-T		not specified	Uncertain significance (Jul 13, 2022)
2-200812442-C-T		not specified	Uncertain significance (Mar 02, 2023)
2-200812447-G-T		not specified	Uncertain significance (Mar 05, 2024)
2-200812453-G-C		not specified	Uncertain significance (Mar 06, 2023)
2-200812471-C-T		not specified	Uncertain significance (Jul 13, 2022)
2-200815415-T-A		not specified	Uncertain significance (Jan 05, 2022)
2-200815727-A-G		not specified	Uncertain significance (Aug 17, 2022)
2-200817139-G-A		not specified	Uncertain significance (Jul 14, 2021)
2-200817164-C-T		not specified	Uncertain significance (Apr 15, 2024)
2-200818081-A-G		not specified	Uncertain significance (Mar 02, 2023)
2-200818262-A-G		not specified	Uncertain significance (Oct 02, 2023)
2-200818311-G-A		not specified	Uncertain significance (Mar 27, 2023)
2-200818779-A-G		not specified	Uncertain significance (Feb 13, 2024)
2-200818820-A-G		not specified	Uncertain significance (Aug 26, 2022)
2-200820013-C-G		not specified	Uncertain significance (Sep 22, 2023)
2-200820075-C-G		not specified	Uncertain significance (Jan 18, 2022)
2-200821212-A-C		not specified	Uncertain significance (Mar 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BZW1	protein_coding	protein_coding	ENST00000452790	12	13253

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.944	0.0558	124628	0	3	124631	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.03	90	215	0.418	0.0000110	2957
Missense in Polyphen		10	51.252	0.19512		743
Synonymous	-0.949	83	72.7	1.14	0.00000358	815
Loss of Function	3.79	3	22.3	0.134	0.00000101	312

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000179	0.0000177
Middle Eastern	0.0000556	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Enhances histone H4 gene transcription but does not seem to bind DNA directly. {ECO:0000269|PubMed:11524015}.

Intolerance Scores

• loftool: 0.282
• rvis_EVS: -0.19
• rvis_percentile_EVS: 39.68

Haploinsufficiency Scores

• pHI: 0.818
• hipred: Y
• hipred_score: 0.728
• ghis: 0.668

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.995

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bzw1

Gene ontology

• Cellular component: cytoplasm;membrane
• Molecular function: RNA binding;cadherin binding