CAPRIN1

Chr 11AD

cell cycle associated protein 1

Also known as: CONDCAC, GPIAP1, GPIP137, GRIP137, M11S1, NEDLAAD, RNG105, p137GPI

NCBI Gene: 4076ENSG00000135387UniProt: Q14444

Enables several functions, including ATP binding activity; molecular condensate scaffold activity; and signaling adaptor activity. Involved in membraneless organelle assembly; positive regulation of stress granule assembly; and regulation of gene expression. Located in cell leading edge and cytosol. Is active in intracellular membraneless organelle. [provided by Alliance of Genome Resources, Apr 2025]

Primary Disease Associations & Inheritance

Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive declineMIM #620636
AD
Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorderMIM #620782
AD
194
ClinVar variants
43
Pathogenic / LP
0.97
pLI score· haploinsufficient
2
Active trials
Clinical Summary— CAPRIN1
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.97). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
43 Pathogenic / Likely Pathogenic· 110 VUS of 194 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
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.
0.31LOEUF
pLI 0.972
Z-score 5.22
OE 0.17 (0.10–0.31)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

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.
1.69Z-score
OE missense 0.76 (0.69–0.84)
301 obs / 395.7 exp
Tolerant

Mild missense constraint

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.0.17 (0.10–0.31)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.76 (0.69–0.84)
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.1.09
0≤1.21.6
LoF obs/exp: 8 / 46.4Missense obs/exp: 301 / 395.7Syn Z: -0.85

ClinVar Variant Classifications

194 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic9
VUS110
Likely Benign8
Benign1
Conflicting1
34
Pathogenic
9
Likely Pathogenic
110
VUS
8
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
0
28
1
34
Likely Pathogenic
3
1
5
0
9
VUS
5
95
8
2
110
Likely Benign
0
6
2
0
8
Benign
0
0
1
0
1
Conflicting
—1
Total13102443163

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CAPRIN1 · protein map & ClinVar variants

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

Gene2Phenotype Curations

CAPRIN1-related neurodevelopmental disorder

moderate
ADLoss Of FunctionDecreased Gene Product Level
Dev. Disorders
G2P ↗
splice donor variantstop gained NMD triggeringframeshift variant NMD triggering

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline

MIM #620636

Molecular basis of disorder known

Autosomal dominant

Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder

MIM #620782

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Pavinato L et al.·Brain
2023
Alterations of ceramide synthesis induce PD-L1 internalization and signaling to regulate tumor metastasis and immunotherapy response.
Wofford W et al.·Cell Rep
2024
Prostate Cancer-associated SPOP mutations enhance cancer cell survival and docetaxel resistance by upregulating Caprin1-dependent stress granule assembly.
Shi Q et al.·Mol Cancer
2019
Caprin-1 influences autophagy-induced tumor growth and immune modulation in pancreatic cancer.
Yang W et al.·J Transl Med
2023
Stress Granule Assembly in Pulmonary Arterial Hypertension.
Kosmas K et al.·Cells
2024
CAPRIN1(P512L) causes aberrant protein aggregation and associates with early-onset ataxia.
Delle Vedove A et al.·Cell Mol Life Sci
2022Case report
Exploring the role of m6A methylation regulators in glioblastoma multiforme and their impact on the tumor immune microenvironment.
Deng X et al.·FASEB J
2023
Upregulation of caprin1 expression is associated with poor prognosis in hepatocellular carcinoma.
Tan N et al.·Pathol Res Pract
2017
Identification and validation of prognostic biomarkers in ccRCC: immune-stromal score and survival prediction.
Lyu F et al.·BMC Cancer
2025
Radiopharmaceutical application of TRK-950, an anti-CAPRIN-1 therapeutic antibody.
Majima Y et al.·J Cancer Res Clin Oncol
2025
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
Gastric AdenocarcinomaGastric CancerGastroesophageal Junction Adenocarcinoma

A Study of TRK-950 When Used in Combination With Ramucirumab and Paclitaxel in Patients With Gastric Cancer

RECRUITING
NCT06038578Phase PHASE2Toray Industries, IncStarted 2023-10-04
TRK-950RamucirumabPaclitaxel
16P11.2 Deletion Syndrome16p11.2 Duplications1Q21.1 Deletion

Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight

RECRUITING
NCT01238250Simons SearchlightStarted 2010-10

External Resources

Links to major genomics databases and tools