STRA8

stimulated by retinoic acid 8

Basic information

Region (hg38): 7:135231979-135258663

Links

ENSG00000146857NCBI:346673OMIM:609987HGNC:30653Uniprot:Q7Z7C7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • 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 ClinVar and linked to the STRA8 gene.

  • 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
25
clinvar
25
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 25 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
STRA8protein_codingprotein_codingENST00000275764 926514
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0006090.9781257180301257480.000119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.281441940.7410.00001142186
Missense in Polyphen3252.6680.60758637
Synonymous1.736079.60.7530.00000503610
Loss of Function2.04817.10.4688.99e-7179

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001850.000185
Ashkenazi Jewish0.0001040.0000992
East Asian0.0008720.000816
Finnish0.000.00
European (Non-Finnish)0.00008020.0000791
Middle Eastern0.0008720.000816
South Asian0.00006540.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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