BLZF1

basic leucine zipper nuclear factor 1

Basic information

Region (hg38): 1:169367970-169396540

Links

ENSG00000117475 ∙ NCBI:8548 ∙ OMIM:608692 ∙ HGNC:1065 ∙ Uniprot:Q9H2G9 ∙ 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 BLZF1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLZF1 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			15	1		16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	18	1	0

Variants in BLZF1

This is a list of pathogenic ClinVar variants found in the BLZF1 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-169376656-A-C		not specified	Uncertain significance (Dec 21, 2023)
1-169376731-A-T		not specified	Uncertain significance (May 20, 2024)
1-169376813-C-A			Likely benign (Dec 11, 2017)
1-169376813-C-T		not specified	Uncertain significance (Jun 11, 2021)
1-169376962-C-T		not specified	Uncertain significance (Oct 25, 2023)
1-169376966-G-T		not specified	Uncertain significance (Feb 27, 2024)
1-169378383-G-T		not specified	Uncertain significance (Dec 01, 2022)
1-169378396-C-T		not specified	Uncertain significance (Apr 12, 2023)
1-169378397-G-A		not specified	Uncertain significance (Jan 29, 2024)
1-169378417-C-G		not specified	Uncertain significance (Jun 11, 2021)
1-169378432-A-G		not specified	Uncertain significance (Jul 13, 2021)
1-169378481-G-A		not specified	Uncertain significance (Aug 19, 2023)
1-169380524-C-T		not specified	Uncertain significance (Mar 06, 2023)
1-169380608-A-G		not specified	Uncertain significance (Oct 05, 2023)
1-169382118-C-T		not specified	Uncertain significance (Jan 27, 2022)
1-169387022-C-A		not specified	Uncertain significance (Feb 24, 2023)
1-169387151-A-G		not specified	Uncertain significance (Sep 27, 2022)
1-169395103-G-A		not specified	Uncertain significance (Jun 17, 2024)
1-169395120-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-169395190-G-A		not specified	Uncertain significance (May 03, 2023)
1-169395198-C-A		not specified	Uncertain significance (May 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BLZF1	protein_coding	protein_coding	ENST00000367808	6	28571

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.09e-7	0.862	125646	1	98	125745	0.000394

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.414	198	215	0.920	0.0000114	2587
Missense in Polyphen		25	40.648	0.61504		494
Synonymous	1.31	58	72.1	0.804	0.00000336	784
Loss of Function	1.54	13	20.5	0.633	0.00000120	242

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000537	0.000533
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000278	0.000277
European (Non-Finnish)	0.000238	0.000237
Middle Eastern	0.0000544	0.0000544
South Asian	0.00157	0.00154
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for normal Golgi structure and for protein transport from the endoplasmic reticulum (ER) through the Golgi apparatus to the cell surface. {ECO:0000269|PubMed:11739401}.
• Pathway: Golgi Cisternae Pericentriolar Stack Reorganization;Mitotic Prophase;M Phase;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.835
• rvis_EVS: 1.28
• rvis_percentile_EVS: 93.77

Haploinsufficiency Scores

• pHI: 0.271
• hipred: N
• hipred_score: 0.292
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.902

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Blzf1

Zebrafish Information Network

• Gene name: blzf1
• Affected structure: fast muscle cell
• Phenotype tag: abnormal
• Phenotype quality: disorganized

Gene ontology

• Biological process: regulation of cell growth;regulation of transcription by RNA polymerase II;Golgi organization;cell population proliferation;Golgi to plasma membrane protein transport
• Cellular component: Golgi membrane;nucleus;cytoplasm;Golgi apparatus
• Molecular function: DNA binding;DNA-binding transcription factor activity;protein binding;enzyme binding;ubiquitin protein ligase binding