CRLF3

Chr 17

cytokine receptor like factor 3

Also known as: CREME-9, CREME9, CRLM9, CYTOR4, FRWS, p48.2

NCBI Gene: 51379ENSG00000176390UniProt: Q8IUI8

This gene encodes a cytokine receptor-like factor that may negatively regulate cell cycle progression at the G0/G1 phase. Studies of the related rat protein suggest that it may regulate neuronal morphology and synaptic vesicle biogenesis. This gene is one of several genes located in the neurofibromatosis type I tumor suppressor region on the q arm of chromosome 17, a region that is subject to microdeletions, duplications, chromosomal breaks and rearrangements. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2 and 5. [provided by RefSeq, Aug 2012]

0
Active trials
40
Pathogenic / LP
93
ClinVar variants
8
Pubs (1 yr)
1.1
Missense Z
0.67
LOEUF
Clinical Summary— CRLF3
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
40 Pathogenic / Likely Pathogenic· 52 VUS of 93 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.67LOEUF
pLI 0.000
Z-score 2.81
OE 0.40 (0.24–0.67)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.12Z-score
OE missense 0.80 (0.71–0.90)
195 obs / 244.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.40 (0.24–0.67)
0≤0.351.4
Missense OE0.80 (0.71–0.90)
0≤0.61.4
Synonymous OE1.13
0≤1.21.6
LoF obs/exp: 10 / 25.2Missense obs/exp: 195 / 244.4Syn Z: -0.98

ClinVar Variant Classifications

93 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic4
VUS52
Likely Benign1
36
Pathogenic
4
Likely Pathogenic
52
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
4
0
4
VUS
0
42
10
0
52
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total04350093

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

View in ClinVar →

CRLF3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients