SRA1

steroid receptor RNA activator 1

Basic information

Region (hg38): 5:140537340-140557677

Links

ENSG00000213523

∙ NCBI:10011 ∙ OMIM:603819 ∙ HGNC:11281 ∙ Uniprot:Q9HD15 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRA1 gene.

not_specified (47 variants)
not_provided (42 variants)
SRA1-related_disorder (10 variants)
Amenorrhea (1 variants)
Hypogonadism_with_anosmia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRA1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001035235.4. 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				6 clinvar	4 clinvar	10
missense			52 clinvar	8 clinvar	4 clinvar	64
nonsense			1 clinvar			1
start loss						0
frameshift			2 clinvar			2
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	57	14	8

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRA1	protein_coding	protein_coding	ENST00000336283	5	20971

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.331	142	131	1.08	0.00000679	1472
Missense in Polyphen		59	51.524	1.1451		621
Synonymous	-0.208	52	50.1	1.04	0.00000245	479
Loss of Function	0.535	9	10.9	0.825	5.50e-7	120

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000905	0.0000904
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000142	0.000141
Middle Eastern	0.000164	0.000163
South Asian	0.000163	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functional RNA which acts as a transcriptional coactivator that selectively enhances steroid receptor-mediated transactivation ligand-independently through a mechanism involving the modulating N-terminal domain (AF-1) of steroid receptors. Also mediates transcriptional coactivation of steroid receptors ligand- dependently through the steroid-binding domain (AF-2). Enhances cellular proliferation and differentiation and promotes apoptosis in vivo. May play a role in tumorigenesis. {ECO:0000269|PubMed:10199399, ECO:0000269|PubMed:12943696, ECO:0000269|PubMed:14517287, ECO:0000269|PubMed:15147866, ECO:0000269|PubMed:15351741}.;
Pathway: mechanism of gene regulation by peroxisome proliferators via ppara;Validated nuclear estrogen receptor alpha network (Consensus)

Recessive Scores

pRec: 0.0882

Intolerance Scores

loftool: 0.966
rvis_EVS: 0.6
rvis_percentile_EVS: 82.66

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 1.00

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Zebrafish Information Network

Gene name: sra1
Affected structure: pericardium
Phenotype tag: abnormal
Phenotype quality: edematous

Gene ontology

Biological process: regulation of transcription by RNA polymerase II;apoptotic process;cell population proliferation;cell differentiation;regulation of apoptotic process;negative regulation of myoblast differentiation;cellular response to estrogen stimulus;positive regulation of nucleic acid-templated transcription
Cellular component: nucleus;nucleoplasm;cytoplasm;cytosol;plasma membrane;microtubule cytoskeleton;intercellular bridge;ribonucleoprotein complex
Molecular function: steroid receptor RNA activator RNA binding;transcription coactivator activity;protein binding;nuclear receptor transcription coactivator activity