ESPL1
Basic information
Region (hg38): 12:53268299-53293638
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (192 variants)
- ESPL1-related_disorder (20 variants)
- not_provided (10 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ESPL1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012291.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 11 | 12 | ||||
| missense | 175 | 20 | 203 | |||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 176 | 31 | 9 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ESPL1 | protein_coding | protein_coding | ENST00000257934 | 30 | 25345 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.00 | 4.19e-10 | 125570 | 0 | 177 | 125747 | 0.000704 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 4.31 | 755 | 1.17e+3 | 0.645 | 0.0000675 | 13530 |
| Missense in Polyphen | 116 | 314.68 | 0.36863 | 3910 | ||
| Synonymous | 1.51 | 447 | 489 | 0.913 | 0.0000262 | 4579 |
| Loss of Function | 8.38 | 9 | 99.0 | 0.0909 | 0.00000550 | 1061 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00473 | 0.00474 |
| Ashkenazi Jewish | 0.000904 | 0.000893 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000772 | 0.000765 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.000330 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Caspase-like protease, which plays a central role in the chromosome segregation by cleaving the SCC1/RAD21 subunit of the cohesin complex at the onset of anaphase. During most of the cell cycle, it is inactivated by different mechanisms. {ECO:0000269|PubMed:10411507, ECO:0000269|PubMed:11509732}.;
- Pathway
- Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Cell Cycle;Regulation of sister chromatid separation at the metaphase-anaphase transition;DroToll-like;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic
(Consensus)
Recessive Scores
- pRec
- 0.106
Intolerance Scores
- loftool
- 0.291
- rvis_EVS
- 1.8
- rvis_percentile_EVS
- 96.89
Haploinsufficiency Scores
- pHI
- 0.201
- hipred
- Y
- hipred_score
- 0.691
- ghis
- 0.443
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.494
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Espl1
- Phenotype
- growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; embryo phenotype; liver/biliary system phenotype; hematopoietic 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); reproductive system phenotype; neoplasm; 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); immune system phenotype;
Zebrafish Information Network
- Gene name
- espl1
- Affected structure
- post-vent region
- Phenotype tag
- abnormal
- Phenotype quality
- curvature
Gene ontology
- Biological process
- mitotic sister chromatid segregation;meiotic spindle organization;mitotic cytokinesis;proteolysis;apoptotic process;establishment of mitotic spindle localization;homologous chromosome segregation;positive regulation of mitotic metaphase/anaphase transition;negative regulation of sister chromatid cohesion;meiotic chromosome separation
- Cellular component
- nucleus;cytoplasm;centrosome;cytosol;mitotic spindle
- Molecular function
- catalytic activity;cysteine-type endopeptidase activity;protein binding;cysteine-type peptidase activity