CEBPG
CCAAT enhancer binding protein gamma, the group of CCAAT/enhancer binding proteins |Basic leucine zipper proteins
Basic information
Region (hg38): 19:33373685-33382686
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 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) | ||
| 19-33379469-A-G | not specified | Uncertain significance (May 24, 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:
| 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:
- 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