STRA8

stimulated by retinoic acid 8

Basic information

Region (hg38): 7:135231979-135258663

Links

ENSG00000146857

∙ NCBI:346673 ∙ OMIM:609987 ∙ HGNC:30653 ∙ Uniprot:Q7Z7C7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
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

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: 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

	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