CEBPZ

CCAAT enhancer binding protein zeta, the group of Armadillo like helical domain containing|CCAAT/enhancer binding proteins

Basic information

Region (hg38): 2:37201612-37231596

Links

ENSG00000115816 ∙ NCBI:10153 ∙ OMIM:612828 ∙ HGNC:24218 ∙ Uniprot:Q03701 ∙ 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 CEBPZ gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEBPZ 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				2		2
missense			83	4	1	88
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	83	6	2

Variants in CEBPZ

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

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

Position	Type	Phenotype	Significance	ClinVar
2-37201807-T-C		not specified	Uncertain significance (Jan 24, 2023)
2-37201821-T-G		not specified	Uncertain significance (Aug 26, 2022)
2-37201874-G-T		not specified	Uncertain significance (Nov 25, 2024)
2-37202787-C-T		not specified	Uncertain significance (Oct 05, 2023)
2-37202812-C-T		not specified	Uncertain significance (Oct 19, 2021)
2-37202814-T-A		not specified	Uncertain significance (Dec 16, 2023)
2-37202819-A-G		not specified	Uncertain significance (Sep 24, 2024)
2-37211011-C-G		not specified	Uncertain significance (Sep 20, 2023)
2-37211013-G-T		not specified	Uncertain significance (Jan 22, 2025)
2-37211023-A-T		not specified	Uncertain significance (Jan 22, 2025)
2-37211036-T-G		not specified	Uncertain significance (Apr 12, 2022)
2-37211055-G-A		not specified	Uncertain significance (Nov 20, 2024)
2-37211916-T-A		not specified	Uncertain significance (Dec 14, 2023)
2-37211927-T-C		not specified	Uncertain significance (Jul 20, 2022)
2-37211971-T-C		not specified	Likely benign (Oct 04, 2024)
2-37211988-A-C		not specified	Uncertain significance (Jun 26, 2023)
2-37212007-T-C		not specified	Uncertain significance (Sep 17, 2021)
2-37212008-C-T		not specified	Uncertain significance (Jul 05, 2023)
2-37212035-C-T		not specified	Likely benign (Feb 14, 2025)
2-37212347-A-G		not specified	Uncertain significance (May 08, 2024)
2-37212351-C-T		not specified	Uncertain significance (Jul 19, 2023)
2-37212383-T-C		not specified	Uncertain significance (Oct 13, 2023)
2-37213915-C-T		not specified	Uncertain significance (Mar 03, 2025)
2-37213951-T-G		not specified	Uncertain significance (Dec 03, 2024)
2-37214908-C-T		not specified	Uncertain significance (Feb 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEBPZ	protein_coding	protein_coding	ENST00000234170	16	30102

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000653	1.00	125705	0	43	125748	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.64	643	536	1.20	0.0000261	7077
Missense in Polyphen		187	195.94	0.95436		2621
Synonymous	-2.43	237	194	1.22	0.00000976	1844
Loss of Function	3.83	17	44.6	0.381	0.00000217	618

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000334	0.000332
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000176	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000223	0.000220
Middle Eastern	0.000176	0.000163
South Asian	0.000105	0.0000980
Other	0.000394	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Stimulates transcription from the HSP70 promoter.
• Pathway: Gastric Cancer Network 2;Direct p53 effectors (Consensus)

Recessive Scores

• pRec: 0.0903

Intolerance Scores

• loftool: 0.846
• rvis_EVS: 0.25
• rvis_percentile_EVS: 69.69

Haploinsufficiency Scores

• pHI: 0.860
• hipred: Y
• hipred_score: 0.648
• ghis: 0.531

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.744

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cebpz

Gene ontology

• Biological process: transcription by RNA polymerase II;ribosome biogenesis;positive regulation of transcription by RNA polymerase II
• Cellular component: nucleus
• Molecular function: RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription activator activity, RNA polymerase II-specific;DNA binding;RNA binding