AEBP2
Basic information
Region (hg38): 12:19404045-19720801
Links
Phenotypes
GenCC
Source:
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 AEBP2 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 | 41 | 42 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 41 | 1 | 0 |
Variants in AEBP2
This is a list of pathogenic ClinVar variants found in the AEBP2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
12-19439709-G-T | not specified | Uncertain significance (Jan 02, 2024) | ||
12-19439716-C-T | not specified | Uncertain significance (Jul 02, 2024) | ||
12-19439718-G-T | not specified | Uncertain significance (Jan 03, 2024) | ||
12-19439719-A-T | not specified | Uncertain significance (Dec 10, 2024) | ||
12-19439746-G-C | not specified | Uncertain significance (Oct 06, 2022) | ||
12-19439760-C-T | not specified | Uncertain significance (May 24, 2023) | ||
12-19439763-C-G | not specified | Uncertain significance (Jul 25, 2023) | ||
12-19439767-G-C | not specified | Uncertain significance (Jan 31, 2024) | ||
12-19439796-G-C | not specified | Uncertain significance (Nov 06, 2023) | ||
12-19439805-C-G | not specified | Uncertain significance (May 09, 2022) | ||
12-19439811-G-A | not specified | Uncertain significance (Nov 22, 2021) | ||
12-19439826-G-A | not specified | Uncertain significance (Apr 16, 2024) | ||
12-19439830-A-C | not specified | Uncertain significance (May 17, 2023) | ||
12-19439833-A-G | not specified | Uncertain significance (Dec 19, 2022) | ||
12-19439896-G-A | not specified | Uncertain significance (Sep 30, 2021) | ||
12-19439947-C-G | not specified | Uncertain significance (Apr 26, 2023) | ||
12-19439990-A-C | not specified | Uncertain significance (Feb 21, 2024) | ||
12-19440002-G-C | not specified | Likely benign (Aug 02, 2022) | ||
12-19440005-C-A | not specified | Uncertain significance (Mar 20, 2024) | ||
12-19440005-C-G | not specified | Uncertain significance (Apr 07, 2022) | ||
12-19440022-A-C | not specified | Uncertain significance (Mar 20, 2023) | ||
12-19440037-G-A | not specified | Uncertain significance (Dec 08, 2023) | ||
12-19440090-G-C | not specified | Uncertain significance (Nov 14, 2024) | ||
12-19440102-G-T | not specified | Uncertain significance (Apr 26, 2023) | ||
12-19440111-C-A | not specified | Uncertain significance (Nov 11, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
AEBP2 | protein_coding | protein_coding | ENST00000398864 | 9 | 316757 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.999 | 0.000787 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.21 | 135 | 229 | 0.589 | 0.0000117 | 3361 |
Missense in Polyphen | 7 | 54.217 | 0.12911 | 740 | ||
Synonymous | -1.19 | 94 | 80.4 | 1.17 | 0.00000402 | 956 |
Loss of Function | 4.21 | 0 | 20.7 | 0.00 | 0.00000129 | 270 |
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:
- Function
- FUNCTION: DNA-binding transcriptional repressor. May interact with and stimulate the activity of the PRC2 complex, which methylates 'Lys-9' and 'Lys-27' residues of histone H3. {ECO:0000269|PubMed:15225548}.;
- Pathway
- Histone Modifications;Mesodermal Commitment Pathway;Interactome of polycomb repressive complex 2 (PRC2);Epigenetic regulation of gene expression;Gene expression (Transcription);PKMTs methylate histone lysines;Chromatin modifying enzymes;Chromatin organization;PRC2 methylates histones and DNA
(Consensus)
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.121
- rvis_EVS
- -0.01
- rvis_percentile_EVS
- 52.85
Haploinsufficiency Scores
- pHI
- 0.832
- hipred
- Y
- hipred_score
- 0.851
- ghis
- 0.682
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.993
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aebp2
- Phenotype
- pigmentation 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); digestive/alimentary phenotype; limbs/digits/tail phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;chromatin organization;negative regulation of gene expression, epigenetic
- Cellular component
- nucleus;nucleoplasm;ESC/E(Z) complex
- Molecular function
- RNA polymerase II proximal promoter sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;transcription corepressor activity;metal ion binding