SRA1

Chr 5

steroid receptor RNA activator 1

ENSG00000213523UniProt: Q9H7N4

May function in pre-mRNA splicing

0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— SRA1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.43LOEUF
pLI 0.000
Z-score 0.53
OE 0.83 (0.50–1.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.33Z-score
OE missense 1.08 (0.94–1.24)
142 obs / 131.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.83 (0.50–1.43)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.08 (0.94–1.24)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.04
0≤1.21.6
LoF obs/exp: 9 / 10.9Missense obs/exp: 142 / 131.3Syn Z: -0.21

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SRA1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Self-Maintenance of Cardiac Resident Reparative Macrophages Attenuates Doxorubicin-Induced Cardiomyopathy Through the SR-A1-c-Myc Axis.
Zhang H et al.·Circ Res
2020
Decreased expression of LncRNA SRA1 in hepatocellular carcinoma and its clinical significance.
Luo P et al.·Cancer Biomark
2017
Positive association between SRA1 rs801460 variant and proliferative type of benign breast disease with atypia in Ukrainian females.
Lukavenko IM et al.·Exp Oncol
2021
Definition of mutations in polyautoimmunity.
Johar A et al.·J Autoimmun
2016
[Mechanism of chrysophanol in inhibiting ox-LDL-induced macrophage foaminess through NF-κB/HMGB1-PI3K/Akt/mTOR pathway].
Wu CL et al.·Zhongguo Zhong Yao Za Zhi
2024Functional
PLS-α-GalCer: a novel targeted glycolipid therapy for solid tumors.
Burks J et al.·J Immunother Cancer
2025
How do macrophages sense modified low-density lipoproteins?
Chistiakov DA et al.·Int J Cardiol
2017Review
HBEGF, SRA1, and IK: Three cosegregating genes as determinants of cardiomyopathy.
Friedrichs F et al.·Genome Res
2009
Non-coding RNAs modulate function of extracellular matrix proteins.
Akbari Dilmaghnai N et al.·Biomed Pharmacother
2021Review
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Fabbri-Scallet H et al.·Sex Dev
2022
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools