CEBPG

CCAAT enhancer binding protein gamma, the group of CCAAT/enhancer binding proteins |Basic leucine zipper proteins

Basic information

Region (hg38): 19:33373684-33382686

Links

ENSG00000153879 ∙ NCBI:1054 ∙ OMIM:138972 ∙ HGNC:1837 ∙ Uniprot:P53567 ∙ 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 CEBPG gene.

• Inborn genetic diseases (6 variants)

Variants pathogenicity by type

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

Variants in CEBPG

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

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

Position	Type	Phenotype	Significance	ClinVar
19-33379270-C-G		not specified	Uncertain significance (Oct 26, 2021)
19-33379333-C-T		not specified	Uncertain significance (Aug 08, 2022)
19-33379349-C-T		not specified	Uncertain significance (Apr 04, 2023)
19-33379358-G-C		not specified	Uncertain significance (May 24, 2023)
19-33379381-C-G		not specified	Uncertain significance (Jan 25, 2023)
19-33379408-C-T		not specified	Uncertain significance (Feb 28, 2024)
19-33379592-T-G		not specified	Uncertain significance (Jun 29, 2023)
19-33379673-G-A		not specified	Uncertain significance (Feb 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEBPG	protein_coding	protein_coding	ENST00000284000	1	9357

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.437	0.535	125734	0	10	125744	0.0000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0574	90	88.5	1.02	0.00000512	992
Missense in Polyphen		20	20.865	0.95854		270
Synonymous	0.175	34	35.3	0.963	0.00000221	287
Loss of Function	1.76	1	5.42	0.185	3.81e-7	53

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000124	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000720	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transcription factor that binds to the promoter and the enhancer regions of target genes. Binds to the enhancer element PRE-I (positive regulatory element-I) of the IL-4 gene (PubMed:7665092). Binds to the promoter and the enhancer of the immunoglobulin heavy chain. Binds to GPE1, a cis-acting element in the G-CSF gene promoter. {ECO:0000250|UniProtKB:P26801, ECO:0000250|UniProtKB:P53568, ECO:0000269|PubMed:7665092}.
• Pathway: Tuberculosis - Homo sapiens (human);Differentiation of white and brown adipocyte;Transcriptional cascade regulating adipogenesis (Consensus)

Recessive Scores

• pRec: 0.165

Intolerance Scores

• loftool: 0.622
• rvis_EVS: -0.01
• rvis_percentile_EVS: 53.19

Haploinsufficiency Scores

• pHI: 0.303
• hipred: Y
• hipred_score: 0.774
• ghis: 0.515

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.921

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cebpg
• Phenotype: immune system phenotype; respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype

Gene ontology

• Biological process: liver development;regulation of transcription by RNA polymerase II;immune response;mRNA metabolic process;B cell differentiation;natural killer cell mediated cytotoxicity;enucleate erythrocyte differentiation;positive regulation of DNA binding;negative regulation of DNA-binding transcription factor activity;positive regulation of interferon-gamma biosynthetic process;positive regulation of DNA repair;positive regulation of transcription by RNA polymerase II;positive regulation of DNA-binding transcription factor activity
• Cellular component: nucleus;nucleoplasm
• 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;protein binding;transcription factor binding;protein homodimerization activity;sequence-specific DNA binding;protein heterodimerization activity