DAZAP1
Basic information
Region (hg38): 19:1407568-1435687
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 DAZAP1 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 | 1 | |||||
| missense | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 0 | 1 |
Variants in DAZAP1
This is a list of pathogenic ClinVar variants found in the DAZAP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-1407781-A-G | not specified | Uncertain significance (Jan 30, 2024) | ||
| 19-1418234-G-C | not specified | Uncertain significance (May 09, 2023) | ||
| 19-1418242-G-A | not specified | Uncertain significance (Oct 26, 2022) | ||
| 19-1418690-C-T | not specified | Uncertain significance (Dec 20, 2023) | ||
| 19-1418703-C-T | not specified | Uncertain significance (Dec 27, 2023) | ||
| 19-1418714-C-T | not specified | Uncertain significance (Mar 25, 2024) | ||
| 19-1418727-G-C | not specified | Uncertain significance (Dec 21, 2023) | ||
| 19-1422357-G-T | not specified | Uncertain significance (Dec 20, 2023) | ||
| 19-1428888-C-T | not specified | Uncertain significance (Nov 03, 2023) | ||
| 19-1428935-G-A | not specified | Uncertain significance (Sep 29, 2022) | ||
| 19-1430243-C-G | not specified | Uncertain significance (Jan 09, 2024) | ||
| 19-1430304-T-C | Benign (Jul 23, 2018) | |||
| 19-1430317-C-G | not specified | Uncertain significance (Mar 18, 2024) | ||
| 19-1430344-G-A | not specified | Uncertain significance (Feb 22, 2023) | ||
| 19-1432634-C-T | not specified | Uncertain significance (May 26, 2023) | ||
| 19-1432642-A-G | not specified | Uncertain significance (Jun 07, 2024) | ||
| 19-1434829-T-C | not specified | Uncertain significance (Apr 27, 2022) | ||
| 19-1434850-G-A | not specified | Uncertain significance (Mar 18, 2024) | ||
| 19-1434901-T-C | Monoclonal B-Cell Lymphocytosis | Uncertain significance (Dec 15, 2015) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| DAZAP1 | protein_coding | protein_coding | ENST00000233078 | 12 | 28152 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 0.000149 | 124371 | 0 | 1 | 124372 | 0.00000402 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 3.37 | 100 | 250 | 0.400 | 0.0000157 | 2618 |
| Missense in Polyphen | 24 | 28.134 | 0.85307 | 219 | ||
| Synonymous | -0.774 | 115 | 105 | 1.10 | 0.00000798 | 801 |
| Loss of Function | 4.64 | 0 | 25.1 | 0.00 | 0.00000152 | 256 |
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) | 0.00000891 | 0.00000891 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: RNA-binding protein, which may be required during spermatogenesis.;
- Pathway
- mRNA surveillance pathway - Homo sapiens (human)
(Consensus)
Recessive Scores
- pRec
- 0.111
Intolerance Scores
- loftool
- 0.103
- rvis_EVS
- -0.54
- rvis_percentile_EVS
- 20.26
Haploinsufficiency Scores
- pHI
- 0.163
- hipred
- Y
- hipred_score
- 0.662
- ghis
- 0.672
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.976
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Dazap1
- Phenotype
- normal 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); reproductive system phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; cellular phenotype;
Gene ontology
- Biological process
- maternal placenta development;spermatogenesis;cell population proliferation;cell differentiation;positive regulation of mRNA splicing, via spliceosome
- Cellular component
- nucleus;nucleoplasm;cytosol;protein-containing complex;ribonucleoprotein complex
- Molecular function
- RNA binding;mRNA 3'-UTR binding;protein binding;poly(U) RNA binding;poly(G) binding;RNA stem-loop binding