SERTAD1
Basic information
Region (hg38): 19:40421589-40425992
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 SERTAD1 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 | 14 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 14 | 1 | 0 |
Variants in SERTAD1
This is a list of pathogenic ClinVar variants found in the SERTAD1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-40422840-C-T | not specified | Uncertain significance (Feb 28, 2024) | ||
| 19-40422841-G-A | not specified | Uncertain significance (Apr 17, 2023) | ||
| 19-40422858-C-T | not specified | Uncertain significance (Jan 20, 2023) | ||
| 19-40422880-C-T | not specified | Uncertain significance (May 10, 2023) | ||
| 19-40422925-G-C | not specified | Uncertain significance (Apr 24, 2023) | ||
| 19-40422931-C-T | not specified | Uncertain significance (Nov 15, 2024) | ||
| 19-40422946-C-G | not specified | Uncertain significance (Apr 08, 2024) | ||
| 19-40422982-G-A | not specified | Uncertain significance (Feb 21, 2024) | ||
| 19-40423018-T-A | not specified | Uncertain significance (Feb 21, 2024) | ||
| 19-40423102-C-G | not specified | Likely benign (Oct 05, 2021) | ||
| 19-40423165-G-T | not specified | Uncertain significance (Oct 06, 2023) | ||
| 19-40423296-G-A | not specified | Uncertain significance (Mar 28, 2024) | ||
| 19-40423299-G-A | not specified | Uncertain significance (May 18, 2023) | ||
| 19-40423299-G-T | not specified | Uncertain significance (Feb 28, 2024) | ||
| 19-40423350-T-G | not specified | Uncertain significance (Nov 07, 2024) | ||
| 19-40423452-G-A | not specified | Uncertain significance (Feb 19, 2025) | ||
| 19-40423453-C-G | not specified | Uncertain significance (Jan 19, 2025) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SERTAD1 | protein_coding | protein_coding | ENST00000357949 | 1 | 4434 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.320 | 0.618 | 125004 | 0 | 3 | 125007 | 0.0000120 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.15 | 106 | 145 | 0.731 | 0.00000904 | 1484 |
| Missense in Polyphen | 33 | 46.886 | 0.70383 | 534 | ||
| Synonymous | 1.03 | 55 | 65.6 | 0.838 | 0.00000431 | 528 |
| Loss of Function | 1.45 | 1 | 4.20 | 0.238 | 1.79e-7 | 53 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000291 | 0.0000291 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000517 | 0.0000462 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts at E2F-responsive promoters as coregulator to integrate signals provided by PHD- and/or bromodomain-containing transcription factors. Stimulates E2F1/TFDP1 transcriptional activity. Renders the activity of cyclin D1/CDK4 resistant to the inhibitory effects of CDKN2A/p16INK4A.;
Recessive Scores
- pRec
- 0.120
Intolerance Scores
- loftool
- 0.248
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 63
Haploinsufficiency Scores
- pHI
- 0.339
- hipred
- Y
- hipred_score
- 0.702
- ghis
- 0.435
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.847
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sertad1
- Phenotype
- homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- regulation of cyclin-dependent protein serine/threonine kinase activity;positive regulation of cell population proliferation;positive regulation of transcription by RNA polymerase II
- Cellular component
- nucleus;cytoplasm
- Molecular function
- protein binding