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. 2014 Dec 18;7(3):265–275. doi: 10.4168/aair.2015.7.3.265

Supplementary Table 2. CNVs identified with asthma associated genes with their chromosomal location, break-points, CN states and gene functions.

Gene Chromosome location Break-point (bp) CN state Gene function
ACAA1 3p22.2 38039344-38185174 3 Acetyl-coA C-acyltransferase activity
ACE 17q23.3 61518220-61624537 3 Actin binding
ADAM8 10q26.3 135056464-135174110 0, 3 Metalloendopeptidase activity
AICDA 12p13.31 8529380-8763073 1 Cytidinedeaminase activity
ALOX5 10q11.21 45827177-45940122 3 Arachidonate 5-lipoxygenase activity
BDNF 11p14.1 27636885-27789198 3 Growth factor activity
C14orf180 14q32.33 104938308-105067722 3 -
C5orf56 5q31.1 131721749-131825114 1 -
CCL11 17q12 31953738-32936539 3 Chemokine activity
CCL2 17q12 31957151-32938022 3 Chemokine activity
CCR1 3p21.31 46129533-46281822 1 Chemokine receptor activity
CCL3L1 17q12 34437116-34629684 0,1,3,4 Chemotactic for lymphocytes and monocytes
CD69 12p13.31 9879084-9993452 1 Transmembrane signaling receptor activity
CDK2 12q13.2 56297625-56413629 3 Cyclin-dependent protein serine/threonine kinase activity
CHRM3 1q43 239917246-240298870 3 G-protein coupled acetylcholine receptor activity
CSF2 5q31.1 131317464-131419202 3 Cytokine and growth factor activity
CTNNA3 10q21.3 68367662-68515140 1, 3 Cadherin binding
CXCL12 10q11.21 44860013-44975407 3 Cytokine and growth factor activity
CYSLTR1 Xq21.1 77513603-77753914 3 Leukotriene receptor activity
DIAPH3 13q21.2 60204504-60381540 1 Rho gtpase binding
DPP10 2q14.1 116532508-116675350 3 Serine-type peptidase activity
EGFR 7p11.2 55126900-55245507 3 Epidermal growth factor-activated receptor activity
GPX3 5q33.1 150399114-150513847 3 Glutathione peroxidase activity
GSTCD 4q24 106447752-106760931 1 -
GSTT1 22q11.23 24288422-24396802 0- 4 Glutathione peroxidase activity
HAVCR1 5q33.3 156409111-156564456 3 -
HAVCR2 5q33.3 156409111-156564456 3 -
HLA-DQA1 6p21.32 32456671-32625083 1 T cell receptor signaling pathway
HLA-DRA 6p21.32 32408527-32530286 4 T cell receptor signaling pathway
HLA-DRB1 6p21.32 32456671-32625083 1, 4 Peptide antigen binding
HLA-DRB5 6p21.32 32429894-32530286 1, 4 Peptide antigen binding
ICAM1 19p13.2 10369086-10471048 1 Transmembrane signaling receptor activity
IL13RA2 Xq23 114205618-114397728 2, 3 Cytokine receptor activity
IL17RB 3p21.1 53775447-53890848 3 Cytokine receptor activity
IL1A 2q13 113500222-113644927 1 Cytokine activity
IL1B 2q13 113512866-113644927 1 Cytokine activity
IL3 5q31.1 131317464-131419202 3 Cytokine activity
IL33 9p24.1 6121448-6256144 1 Cytokine activity
IL4R 16p12.1 27251081-27377242 1 Interleukin-4 receptor activity
IL8 4q13.3 74567500-74758477 1 Chemokine activity
IL9 5q31.1 135123627-135231195 3 Cytokine activity
IRF1 5q31.1 131721749-131825114 1 Sequence-specific DNA binding transcription factor activity
KCNIP4 4p15.2 21637793-21740358 3 Voltage-gated ion channel activity
LTA 6p21.33 31474688-31595882 1 Cytokine activity
MBL2 10q21.1 53511985-57787459 1 Calcium-dependent protein binding
MUC2 11p15.5 1073860-1332223 3 Protein binding
MUC5B 11p15.5 1150425-1291777 3, 4 Extracellular matrix structural constituent
NQO1 16q22.1 68860698-69771914 1 NAD(P)H dehydrogenase (quinone) activity
NRG1 8p12 32422268-32522771 3 Cytokine and growth factor activity
OPN3 1q43 241099314-242090693 3 G-protein coupled receptor activity
PIM1 6p21.2 37130282-37236436 3 Protein serine/threonine kinase activity
PRKG1 10q21.1 53511985-57787459 1 Calcium channel regulator activity
PTGER2 14q22.1 52788759-52902018 1 Prostaglandin E receptor activity
STAT3 17q21.2 40498189-40608285 1 Transcription regulatory region DNA binding
TBXA2R 19p13.3 3554783-3700847 3 Guanyl-nucleotide exchange factor activity
TIMP3 22q12.3 33142908-33251959 3 Metalloendopeptidase inhibitor activity
TLR2 4q31.3 154515618-154825256 3 Transmembrane signaling receptor activity
TNF 6p21.33 31480272-31654732 1 Cytokine activity
TNFAIP3 6q23.3 138092422-138206150 1 Ubiquitin-specific protease activity
TNS1 2q35 218600074-218709313 3 Actin and protein binding
ZNF618 9q32 116811184-116930194 3 DNA binding