CREBZF

CREB/ATF bZIP transcription factor, the group of Basic leucine zipper proteins

Basic information

Region (hg38): 11:85657741-85682908

Links

ENSG00000137504 ∙ NCBI:58487 ∙ OMIM:606444 ∙ HGNC:24905 ∙ Uniprot:Q9NS37 ∙ 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 CREBZF gene.

• Inborn genetic diseases (10 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CREBZF 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					1	1
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	1

Variants in CREBZF

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

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

Position	Type	Phenotype	Significance	ClinVar
11-85663827-G-C		not specified	Uncertain significance (May 17, 2023)
11-85663840-G-A		not specified	Uncertain significance (Jan 22, 2024)
11-85663880-G-C		not specified	Uncertain significance (May 27, 2022)
11-85663886-A-T		not specified	Uncertain significance (Dec 07, 2023)
11-85663887-T-G		not specified	Uncertain significance (Sep 29, 2023)
11-85663939-G-C		not specified	Uncertain significance (Jan 09, 2024)
11-85664028-C-T		not specified	Uncertain significance (Jan 26, 2023)
11-85664131-C-G		not specified	Uncertain significance (Jul 08, 2022)
11-85664254-T-C		not specified	Uncertain significance (Jan 02, 2024)
11-85664270-G-T		not specified	Uncertain significance (Nov 27, 2023)
11-85664319-C-G		not specified	Uncertain significance (Oct 27, 2022)
11-85664394-T-G		not specified	Uncertain significance (Oct 10, 2023)
11-85664513-G-A			Benign (Apr 10, 2018)
11-85664583-T-A		not specified	Uncertain significance (Oct 10, 2023)
11-85664640-G-T		not specified	Uncertain significance (Feb 10, 2022)
11-85664664-C-A		not specified	Uncertain significance (Feb 06, 2023)
11-85664680-C-A		not specified	Uncertain significance (Apr 25, 2023)
11-85664754-C-A		not specified	Uncertain significance (Mar 07, 2023)
11-85664755-C-G		not specified	Uncertain significance (May 26, 2023)
11-85664800-C-T		not specified	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CREBZF	protein_coding	protein_coding	ENST00000527447	1	23200

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.100	0.869	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.126	201	206	0.975	0.00000959	2241
Missense in Polyphen		88	114.88	0.76605		1264
Synonymous	-0.760	107	97.5	1.10	0.00000475	790
Loss of Function	1.85	3	9.01	0.333	3.93e-7	103

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Strongly activates transcription when bound to HCFC1. Suppresses the expression of HSV proteins in cells infected with the virus in a HCFC1-dependent manner. Also suppresses the HCFC1- dependent transcriptional activation by CREB3 and reduces the amount of CREB3 in the cell. Able to down-regulate expression of some cellular genes in CREBZF-expressing cells. {ECO:0000269|PubMed:10871379, ECO:0000269|PubMed:15705566}.

Recessive Scores

• pRec: 0.471

Intolerance Scores

• loftool: 0.177
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.374
• hipred: N
• hipred_score: 0.335
• ghis: 0.655

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.891

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Crebzf

Gene ontology

• Biological process: transcription, DNA-templated;regulation of transcription by RNA polymerase II;response to virus;negative regulation of gene expression, epigenetic;negative regulation of transcription, DNA-templated;regulation of DNA-binding transcription factor activity
• Cellular component: nucleus;mitochondrion
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA binding;protein binding;identical protein binding