SomamiR DB 2.0
Somatic mutations altering microRNA-ceRNA interactions
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Total 27 records

Experimental evidence linking mutations in miRNA target sites with cancer

RefSeq ID Gene Symbol miRNA Mutation Region Chromosome Location Allele Binding Allele MAF Disease P - Value Experiment PubMed
ABCG2 hsa-miR-519c Deletions in 3' UTR 3' UTR - 0 - Untruncated 3' UTR - Anticancer drug resistance RT-PCR; Western blot 19825807
Association Summary: Shortening of the ABCG2 3' UTR was found to be a common phenomenon in several ABCG2-overexpressing cell lines
Experiment Summary: miR-519c suppresses expression of ABCG2 in S1 cells, but the binding site is lost in S1M1 80 cells with a truncated 3' UTR
BMPR1B hsa-miR-125b rs1434536 3' UTR chr4 96075965 C>T C T=0.429 Breast cancer Luciferase reporter assays; overexpression of miR-125b-mimics with RT-PCR 19738052
Association Summary: rs1434536 is in strong linkage disequilibrium with two high-scoring SNPs from CGEMS study; Imputed genotypes indicated that T allele was associated with disease risk
Experiment Summary: Luciferase reporter assays and overexpression of miR-125b showed that BMPR1B transcript is a direct target of miR-125b and that miR-125b differentially regulates the C and T alleles of rs1434536
BMPR1B hsa-miR-125b rs1434536 3' UTR chr4 96075965 C>T C T=0.429 Prostate cancer 0.044 Luciferase reporter assay 21556765
Association Summary: CT/TT genotype was associated with prostate cancer risk in a Chinese Has population
Experiment Summary: C-allele reduced luciferase activity relative to T-allele
BRCA1 hsa-miR-638 rs799917 exonic chr17 41244936 C>T C A=0.482 Breast cancer 0.03 Luciferase reporter assay, Western blot; Protein level 20332227
Association Summary: T allele is associated with breast cancer and, in particular, sporadic breast cancer
Experiment Summary: miRNAs displayed a higher repressive effect when interacting with the active C allele by luciferase assay; 7 out of 9 cancer cell lines showed a reduction in BRCA1 protein levels when miR-638 was over-expressed
BTRC hsa-miR-920 rs16405 3' UTR chr10 103313720 TCCACTGTT>- Insertion - Hepatocellular carcinoma - Expression 19931512
Association Summary: Deletion is associated with decreased HCC risk in a Chinese population
Experiment Summary: Levels of BTRC are highest for ins/ins genotype, but no direct evidence for targeting by miR-920
CBR1 hsa-miR-656 1096 G>A 3' UTR - 0 G>A A - Anticancer drug resistance Protein level 19022938
Association Summary:
Experiment Summary: A genotype was associated with lower CBR1 protein levels and CBR activity; No direct evidence of it creating a target for miR-656
ESR1 hsa-miR-206 rs9341070 3' UTR chr6 152420197 C>T Both active - Breast cancer - Luciferase reporter assay 17312270
Association Summary: -
Experiment Summary: T variant increased repression of luciferase activty by shifting the binding site
HMGA2 hsa-let-7 Translocation 3' UTR - 0 - - - Cancers - Luciferase reporter assay 17322030
Association Summary: -
Experiment Summary: Constructed reporters with WT 3' UTR and point mutations disrupting target sites of let-7, degree of repression corresponded to the number of intact sites
IL1A hsa-miR-122 rs3783553 3'UTR chr2 113531715 ->TTCA Deletion - Hepatocellular carcinoma <0.0001 Luciferase reporter assay; Expression 19917630
Association Summary: Insertion was associated with significantly reduced risk of HCC in two Chinese populations
Experiment Summary: Reporter constructs containing the TTCA deletion allele had significantly reduced expression in the presence of miR-122 in a concentration dependent manner; Indel does not effect seed match to miR-378 and reporter expression was only impacted by indel for high concentrations of miR-378; Expression of IL1A with insertion genotype was higher than deletion genotype in vivo
IL1A hsa-miR-378 rs3783553 3'UTR chr2 113531715 ->TTCA Deletion - Hepatocellular carcinoma <0.0001 Luciferase reporter assay; Expression 19917630
Association Summary: Insertion was associated with significantly reduced risk of HCC in two Chinese populations
Experiment Summary: Reporter constructs containing the TTCA deletion allele had significantly reduced expression in the presence of miR-122 in a concentration dependent manner; Indel does not effect seed match to miR-378 and reporter expression was only impacted by indel for high concentrations of miR-378; Expression of IL1A with insertion genotype was higher than deletion genotype in vivo
KIT hsa-miR-221 rs17084733 3' UTR chr4 55604940 G>A G A=0.087 Melanoma 0.02 Expression; Luciferase reporter assay 21119596
Association Summary: A allele disrupts targeting and is associated with melanoma risk, specifically the acral melanoma sub-type
Experiment Summary: Significantly higher expression in samples with variant (A) allele compared to wild-type; Luciferase activity of variant was 6.7-fold greater than wild-type in 501 mel melanoma cell line that expresses miR-221
KRAS hsa-let-7 rs61764370 3' UTR chr12 25360224 T>G T G=0.044 Breast cancer 0.0067 Expression 21435948
Association Summary: G allele was associated with triple-negative breast cancer in premenopausal women
Experiment Summary: Tumors with G allele have significantly altered gene expression and are enriched for the luminal progenitor and BRCA1 deficiency signatures and reduced levels of let-7 miRNA species
KRAS hsa-let-7 LCS6 3' UTR chr12 25360224 T>G T G=0.058 (ALFRED database) Lung cancer 0.02 Luciferaser reporter 18922928
Association Summary: G allele was associated with increased NSCLC risk in smokers with a <41 pack-year smoking history
Experiment Summary: Significant increase in luciferase activity in cells with variant allele
LIN28A hsa-let-7 rs3811463 3' UTR chr1 26753942 T>C T C=0.357 Breast cancer 0 Luciferase reporter assay; miRNa overexpression; Expression in tissues 21912531
Association Summary: C allele had an increased risk of breast cancer with an odds ratio of 1.25 in a Han Chinese population, which was successfully replicated in a second independent study with community-based controls
Experiment Summary: C allele of rs3811463 weakened let-7-induced repression of LIN28; In normal breast tissue, TC genotype had significantly lower levels of LIN28 expression than TT genotype; The SNP is not in the binding site but may impact to folding of the mRNA
MBL2 hsa-miR-27a rs10082466 3'UTR chr10 54526622 T>C C C=0.261 Colon Cancer <0.0005 Luciferase reporter assay; Protein level 22282660
Association Summary: Haplotype CGGT, which contains all variant alleles, was associated with increased risk of colon cancer in African-Americans
Experiment Summary: C allele creates a target site for miR-27b; Haplotype with C allele in 3' UTR resulted in a significant decrease in normalized luciferase activity; C allele is also associated with lower plasma MBL levels and activity in cases and controls
MDM4 hsa-miR-191 rs4245739 3' UTR chr1 204518842 C>A C C=0.221 Ovarian cancer 0.01 Luciferase reporter assay; Target site blockers 21084273
Association Summary: A/A genotype is more frequent in patients with high-grade carcinomas and have an increased risk of recurrence and tumor-related death
Experiment Summary: C allele creates a target site for miR-191; Allele specific targeting was confirmed using luciferase reporter assay and a target site blocker that rescued the reduction of the MDM4-C luciferase signal; A allele also statistically significantly increased expression of MDM4 mRNA and protein levels
MYCL1 hsa-miR-1827 rs3134615 3'UTR chr1 40362066 G>T G T=0.133 Small-cell lung cancer 0.0004 Luciferase reporter assay 21676885
Association Summary: T allele was associated with a significantly increased risk of SCLC
Experiment Summary: Luciferase assays showed that hsa-miR-1927 suppressed luciferase expression more efficiently for a vector with the G allele than for a vector with the T allele
PDGFC hsa-miR-425 rs1425486 3' UTR chr4 157683685 G>A G A=0.447 Ovarian cancer q = 0.004 Luciferase reporter assay 21118967
Association Summary: A allele was significantly associated with poorer ovarian cancer survival
Experiment Summary: Cotransfection of miR-425 significantly inhibited expression of the reporter with wild-type PGDFC (G) allele but not the variant (A)
PTGS2 hsa-miR-542-3p rs5275 3'UTR chr1 186643058 T>C T C=0.358 - Northern and immunoblot assays; Immunoprecipitation of AGO1 21822307
Association Summary: -
Experiment Summary: T allele allows for degradation by miR-542-3p; C allele interfered with miR-542-3p binding, but the effect was rescued using a mutated miR-542-3p; Colon cancer displayed COX2 mRNA levels that were dependent on allele
RYR3 hsa-miR-367 rs1044129 3' UTR chr15 34158266 A>G A A=0.428 Breast cancer 0.032 Luciferase reporter assay 21810988
Association Summary: G allele was a risk genotype for developing breast cancer, breast cancer calcification, and poor survival in a case/control Chinese population
Experiment Summary: A allele construct had significantly less relative luciferase activity than the reporter with the G allele
SETD8 hsa-miR-502 rs16917496 3' UTR chr12 123893930 C>T C C= 0.473 Breast cancer - Expression 19789321
Association Summary: C allele is associated with earlier age of breast cancer onset
Experiment Summary: SET8 CC genotype associated with reduced SET8, but not miR-502 transcript levels
TGFB1 hsa-miR-187 rs1800470 3' UTR chr19 41858921 C>T C C=0.436 Breast cancer - Luciferase reporter assay; Protein level 20332227
Association Summary: -
Experiment Summary: Expression of luciferase reporter was significantly reduced with C allele but not T allele; Protein levels with CC were reduced in alleles in cancer cells
TGFBR1 hsa-miR-628-5p rs334348 3' UTR chr9 101912471 A>G G G=0.34 Breast cancer 0.048 Luciferase reporter assay, Western blot; Protein level 20332227
Association Summary: Heterogeneous (AG) carriers were more likely to have breast cancer, and in particular familiar breast cancer
Experiment Summary: miRNAs displayed a higher repressive effect when interacting with the active G allele by luciferase assay; 80% vs 50% reduction of AA and GG genotypes when miR-628-5p is over-expressed
TNFAIP2 Somatic 3' UTR chr14 103603280 A>G G - Acute myeloid leukemia - Luciferase reporter assay 20876853
Association Summary: -
Experiment Summary: Somatic mutation (G allele) resulted in translational repression of a reporter gene in a Dicer-dependent fashion, but the specific miRNA could not be identified
TNFAIP2 hsa-miR-184 rs8126 3'UTR chr14 103603569 T>C C C=0.374 Squamous cell carcinoma of the head and neck 0.009 Lucifersase reporter assay; Expression 21934093
Association Summary: C allele was associated with increased SCCHN risk in an allele dose-response manner
Experiment Summary: rs8126 variant C allele led to significantly lower luciferase activity and CC genotype was associated with reduced expression of TNFAIP2 mRNA
XIAP hsa-miR-542-5p rs28382751 3' UTR chrX 123045109 C>A C A=0.215 Breast cancer - Luciferase reporter assay 20332227
Association Summary: -
Experiment Summary: Luciferase reporter assay showed a higher repressive effect for C allele
XRCC1 hsa-miR-138 rs1799782 3' UTR chr19 44057574 C>T T T=0.131 Breast cancer - Luciferase reporter assay; Protein level 20332227
Association Summary: -
Experiment Summary: Luciferase reporter activity indicates miR-138 has a stabilizing, not inhibitory role, when binding to T variant; CC genotype had reduced protein level