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GeneBe

BLZF1

basic leucine zipper nuclear factor 1

Basic information

Region (hg38): 1:169367969-169396540

Links

ENSG00000117475NCBI:8548OMIM:608692HGNC:1065Uniprot:Q9H2G9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BLZF1 gene.

  • Inborn genetic diseases (14 variants)
  • not provided (1 variants)

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
11
clinvar
1
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
3
clinvar
3
Total 0 0 14 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 Inborn genetic diseases Uncertain significance (Nov 15, 2021)2233972
1-169376813-C-A Likely benign (Dec 11, 2017)789949
1-169376813-C-T Inborn genetic diseases Uncertain significance (Jun 11, 2021)2232117
1-169378383-G-T Inborn genetic diseases Uncertain significance (Dec 01, 2022)2330569
1-169378396-C-T Inborn genetic diseases Uncertain significance (Apr 12, 2023)2536205
1-169378417-C-G Inborn genetic diseases Uncertain significance (Jun 11, 2021)2232849
1-169378432-A-G Inborn genetic diseases Uncertain significance (Jul 13, 2021)2236692
1-169378481-G-A Inborn genetic diseases Uncertain significance (Aug 19, 2023)2619520
1-169380524-C-T Inborn genetic diseases Uncertain significance (Mar 06, 2023)2494701
1-169382118-C-T Inborn genetic diseases Uncertain significance (Jan 27, 2022)2274093
1-169387022-C-A Inborn genetic diseases Uncertain significance (Feb 24, 2023)2465514
1-169387151-A-G Inborn genetic diseases Uncertain significance (Sep 27, 2022)2215075
1-169395120-C-T Inborn genetic diseases Uncertain significance (Aug 12, 2021)2372431
1-169395190-G-A Inborn genetic diseases Uncertain significance (May 03, 2023)2513486
1-169395198-C-A Inborn genetic diseases Uncertain significance (May 05, 2023)2544269

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BLZF1protein_codingprotein_codingENST00000367808 628571
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.09e-70.8621256461981257450.000394
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4141982150.9200.00001142587
Missense in Polyphen2540.6480.61504494
Synonymous1.315872.10.8040.00000336784
Loss of Function1.541320.50.6330.00000120242

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005370.000533
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.0002780.000277
European (Non-Finnish)0.0002380.000237
Middle Eastern0.00005440.0000544
South Asian0.001570.00154
Other0.0004910.000489

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Blzf1
Phenotype

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