STRA8
Basic information
Region (hg38): 7:135231979-135258663
Links
Phenotypes
GenCC
Source:
- male infertility with azoospermia or oligozoospermia due to single gene mutation (Moderate), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (26 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the STRA8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001394401.1. 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 | 1 | |||||
missense | 25 | 25 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 25 | 1 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
STRA8 | protein_coding | protein_coding | ENST00000275764 | 9 | 26514 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000609 | 0.978 | 125718 | 0 | 30 | 125748 | 0.000119 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.28 | 144 | 194 | 0.741 | 0.0000114 | 2186 |
Missense in Polyphen | 32 | 52.668 | 0.60758 | 637 | ||
Synonymous | 1.73 | 60 | 79.6 | 0.753 | 0.00000503 | 610 |
Loss of Function | 2.04 | 8 | 17.1 | 0.468 | 8.99e-7 | 179 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000185 | 0.000185 |
Ashkenazi Jewish | 0.000104 | 0.0000992 |
East Asian | 0.000872 | 0.000816 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000802 | 0.0000791 |
Middle Eastern | 0.000872 | 0.000816 |
South Asian | 0.0000654 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Meiosis-inducer required for the transition into meiosis for both female and male germ cells. In female germ cells, required for premeiotic DNA replication and subsequent events in meiotic prophase. During spermatogenesis, next to its role in meiotic initiation, promotes (but is not required for) spermatogonial differentiation. Can associate with DNA (possibly in an indirect manner), and in vitro can activate DNA transcription (By similarity). {ECO:0000250|UniProtKB:P70278}.;
Recessive Scores
- pRec
- 0.149
Intolerance Scores
- loftool
- 0.426
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.11
Haploinsufficiency Scores
- pHI
- 0.453
- hipred
- N
- hipred_score
- 0.172
- ghis
- 0.399
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0894
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Stra8
- Phenotype
- reproductive system phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- DNA replication;positive regulation of transcription by RNA polymerase II;male germ-line stem cell asymmetric division;oogenesis;meiotic cell cycle;cellular response to retinoic acid
- Cellular component
- nucleus;cytoplasm
- Molecular function
- protein dimerization activity