acyl-CoA dehydrogenase family member 10
External References:
Entrez ID: 80724
NCBI Description of ACAD10
This gene encodes a member of the acyl-CoA dehydrogenase family of enzymes (ACADs), which participate in the beta-oxidation of fatty acids in mitochondria. The encoded enzyme contains a hydrolase domain at the N-terminal portion, a serine/threonine protein kinase catlytic domain in the central region, and a conserved ACAD domain at the C-terminus. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Nov 2008]
Genome Assembly: GRCh37.p13/hg19
in 2,022 ESCC cases and 2,039 controls
SNP | Location | Region | Allele | MAF | P-value | OR(95% CI) | Functional class | Mapped gene(s) | Study |
---|---|---|---|---|---|---|---|---|---|
rs11066015 | 12:112168009 | 12q24.12 | G/A | 0.19 | 1.87E-06 | 1.33 (1.19-1.5) | intronic | ACAD10 | Wu C, et al. (PMID: 21642993), 2011 |
MAF: minor allele frequency in controls
in ESCC tumor or normal tissues of 94 ESCC patients
SNP | Location | Region | Allele | Effect size | P-value | FDR | Mapped gene(s) | Tissue | Action | Study |
---|---|---|---|---|---|---|---|---|---|---|
rs3803171 | 12:112104748 | 12q24.12 | A/C | 0.14 | 1.92E-05 | 5.83E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs141088484 | 12:112079747 | 12q24.12 | TG/T | -0.14 | 1.95E-05 | 5.89E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs74411430 | 12:112075997 | 12q24.12 | G/A | 0.14 | 2.91E-05 | 7.99E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs10774633 | 12:112096289 | 12q24.12 | C/T | 0.14 | 2.91E-05 | 7.99E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs11066003 | 12:112132276 | 12q24.12 | A/G | 0.14 | 2.91E-05 | 7.99E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs2074055 | 12:112191641 | 12q24.12 | G/A | 0.14 | 2.91E-05 | 7.99E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs739580 | 12:112194727 | 12q24.12 | C/T | 0.14 | 2.91E-05 | 7.99E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs4767944 | 12:112209341 | 12q24.12 | C/T | 0.14 | 2.91E-05 | 7.99E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs117841567 | 12:112156587 | 12q24.12 | T/C | 0.14 | 3.44E-05 | 9.16E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs3840796 | 12:112074303 | 12q24.12 | CCT/C | 0.14 | 3.66E-05 | 9.60E-03 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs7132509 | 12:112130708 | 12q24.12 | A/G | 0.14 | 7.69E-05 | 1.68E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs11066019 | 12:112183887 | 12q24.12 | A/G | 0.14 | 7.69E-05 | 1.68E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs79073142 | 12:112208997 | 12q24.12 | C/T | 0.14 | 7.69E-05 | 1.68E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs397804637 | 12:112222868 | 12q24.12 | GC/G | 0.14 | 7.69E-05 | 1.68E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs12307990 | 12:112095618 | 12q24.12 | G/T | 0.13 | 9.48E-05 | 1.95E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs11066002 | 12:112130051 | 12q24.12 | A/C,G | 0.13 | 9.48E-05 | 1.95E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs371486573 | 12:112199081 | 12q24.12 | CGA/C | 0.13 | 9.48E-05 | 1.95E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs11065983 | 12:112065795 | 12q24.12 | C/A | 0.13 | 1.15E-04 | 2.23E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs77177960 | 12:112135275 | 12q24.12 | G/A | -0.13 | 1.41E-04 | 2.60E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs602276 | 12:112133924 | 12q24.12 | G/A | -0.13 | 1.46E-04 | 2.66E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs57186456 | 12:112086099 | 12q24.12 | T/C | -0.13 | 1.65E-04 | 2.88E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs2051793 | 12:112053772 | 12q24.12 | C/T | 0.13 | 1.71E-04 | 2.96E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs76579145 | 12:112066917 | 12q24.12 | C/T | 0.13 | 1.71E-04 | 2.96E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs7975114 | 12:112173069 | 12q24.12 | C/T | 0.12 | 1.92E-04 | 3.22E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs632650 | 12:112131698 | 12q24.12 | G/T | -0.13 | 1.97E-04 | 3.27E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs617044 | 12:112132875 | 12q24.12 | T/C | -0.13 | 1.97E-04 | 3.27E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs11065999 | 12:112113850 | 12q24.12 | T/A | 0.12 | 1.97E-04 | 3.27E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs11608345 | 12:112187840 | 12q24.12 | A/G | -0.13 | 2.14E-04 | 3.48E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs695047 | 12:112134971 | 12q24.12 | G/C | -0.13 | 2.20E-04 | 3.55E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs12305105 | 12:112060866 | 12q24.12 | C/T | 0.12 | 2.25E-04 | 3.60E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
rs59905228 | 12:112181226 | 12q24.12 | C/T | -0.13 | 2.73E-04 | 4.14E-02 | ACAD10 | Adjacent normal tissue | eQTL boxplot | Chang J, et al. (PMID: 28548104), 2017 |
in the protein coding region of 675 ESCC patients
Location | Allele | Amino acid change | Mutation type |
---|---|---|---|
12:112143731 | G>C | D176H | Missense_Mutation |
12:112147468 | C>T | L224F | Missense_Mutation |
12:112153649 | A>T | D292V | Missense_Mutation |
12:112153654 | G>A | G294R | Missense_Mutation |
12:112185114 | G>A | A804T | Missense_Mutation |
12:112187059 | C>T | I909I | Silent |
12:112187150 | G>A | - | Splice_Site |
of somatic mutations in the coding region and ESCC patients’ survival
Study | No. of patients with SNVs/indels | No. of patients without SNVs/indels | P-value |
---|---|---|---|
Cancer Genome Atlas Research. (PMID: 28052061), 2017 | 2 | 88 | 2.12E-03 |