DEDD
death effector domain containing, the group of Death effector domain containing
Basic information
Region (hg38): 1:161120973-161132688
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 DEDD 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 | 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 | 0 |
Variants in DEDD
This is a list of pathogenic ClinVar variants found in the DEDD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-161122166-A-G | not specified | Uncertain significance (Jan 08, 2024) | ||
| 1-161122422-G-A | not specified | Uncertain significance (Feb 06, 2023) | ||
| 1-161123135-C-G | not specified | Uncertain significance (Jan 19, 2024) | ||
| 1-161123899-A-G | not specified | Uncertain significance (Sep 20, 2023) | ||
| 1-161123901-C-T | not specified | Uncertain significance (May 02, 2024) | ||
| 1-161124162-C-T | not specified | Uncertain significance (Oct 27, 2023) | ||
| 1-161124216-G-C | not specified | Uncertain significance (Dec 21, 2023) | ||
| 1-161124258-A-C | not specified | Uncertain significance (Oct 06, 2021) | ||
| 1-161124291-G-A | not specified | Uncertain significance (Mar 18, 2024) | ||
| 1-161124346-G-C | not specified | Uncertain significance (Mar 21, 2023) | ||
| 1-161124348-G-A | not specified | Uncertain significance (May 29, 2024) | ||
| 1-161124380-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
| 1-161124444-G-A | not specified | Uncertain significance (May 23, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DEDD | protein_coding | protein_coding | ENST00000368006 | 4 | 11715 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.959 | 0.0409 | 125744 | 0 | 2 | 125746 | 0.00000795 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.21 | 114 | 203 | 0.562 | 0.0000135 | 2056 |
| Missense in Polyphen | 35 | 91.361 | 0.3831 | 963 | ||
| Synonymous | -0.519 | 82 | 76.2 | 1.08 | 0.00000413 | 668 |
| Loss of Function | 3.27 | 1 | 14.4 | 0.0695 | 9.58e-7 | 141 |
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) | 0.0000176 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: A scaffold protein that directs CASP3 to certain substrates and facilitates their ordered degradation during apoptosis. May also play a role in mediating CASP3 cleavage of KRT18. Regulates degradation of intermediate filaments during apoptosis. May play a role in the general transcription machinery in the nucleus and might be an important regulator of the activity of GTF3C3. Inhibits DNA transcription in vitro (By similarity). {ECO:0000250, ECO:0000269|PubMed:12235123}.;
- Pathway
- p73 transcription factor network
(Consensus)
Recessive Scores
- pRec
- 0.134
Intolerance Scores
- loftool
- 0.0276
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 49.76
Haploinsufficiency Scores
- pHI
- 0.481
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.586
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.992
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dedd
- Phenotype
- growth/size/body region phenotype; endocrine/exocrine gland phenotype; liver/biliary system phenotype; respiratory system phenotype; immune system phenotype; renal/urinary system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype;
Gene ontology
- Biological process
- spermatogenesis;extrinsic apoptotic signaling pathway via death domain receptors;regulation of apoptotic process
- Cellular component
- nucleolus;cytoplasm
- Molecular function
- DNA binding;protein binding