Supplementary table S1.Reported and putative genetic variations interconnecting through the network model for gene-environment interactions in the autistic context (“GENVI” network).Underlined PMIDs distinguish reports where no significant correlation with autism of such a gene/protein was found.
Gene symbol / Aliasand/or
description / Ensembl ID
(ENSP) / Chromosome
(Cytogenetic band) / Polymorphism
(Yes/---) / Selected autism-related
report (PMID)
ACTN2 / Actinin, α 2 / ENSP00000355537 / 1q42-q43 / --- / ---
ADA / Adenosine deaminase / ENSP00000361965 / 20q13 / Yes / 11354825
ADORA2A / Adenosine A2a receptor / ENSP00000336630 / 22q11.23 / Yes / 19565319
AQP4 / Aquaporin 4 / ENSP00000372654 / 18q11.2-q12.1 / --- / 18435417
ATP10A / ATPase, class V, type 10A / ENSP00000349325 / 15q11.2 / Yes / 20609483
AVPR1A / Arginine vasopressin receptor 1A / ENSP00000299178 / 12q14-q15 / --- / 12082568
BDNF / Brain-derived neurotrophic factor / ENSP00000414303 / 11p13 / Yes / 21547716
11857571
CACNA1C / Calcium channel, voltage-dependent, L type, α 1C subunit / ENSP00000266376 / 12p13.3 / --- / 15454078
CACNA1G / Calcium channel, voltage-dependent, T type, α 1G subunit / ENSP00000352011 / 17q22 / Yes / 19455149
CACNA1H / Calcium channel, voltage-dependent, T type, α 1H subunit / ENSP00000334198 / 16p13.3 / Yes / 16754686
CACNA1I / Calcium channel, voltage-dependent, T type, α 1I subunit / ENSP00000385019 / 22q13.1 / --- / ---
CACNA2D2 / Calcium channel, voltage-dependent, α 2/ δ subunit 2 / ENSP00000390329 / 3p21.3 / --- / ---
CACNA2D3 / Calcium channel, voltage-dependent, α 2/ δsubunit 3 / ENSP00000288197 / 3p21.1 / --- / ---
CACNB3 / Calcium channel, voltage-dependent, β 3 subunit / ENSP00000301050 / 12q13 / --- / ---
CADM1 / Cell adhesion molecule 1 / ENSP00000329797 / 11q23.2 / --- / 18957284
CADPS2 / Ca++-dependent secretion activator 2 / ENSP00000400401 / 7q31.3 / --- / 17380209
CASK / Calcium/calmodulin-dependent serine protein kinase (MAGUK family) / ENSP00000367408 / Xp11.4 / --- / 18054859
20574149
CCL2 / MCP-1; chemokine (C-C motif) ligand 2 / ENSP00000225831 / 17q11.2-q12 / --- / 21095018
CCL5 / RANTES; chemokine (C-C motif) ligand 5 / ENSP00000293272 / 17q11.2-q12 / --- / 21095018
CCL11 / Eotaxin; chemokine (C-C motif) ligand 11 / ENSP00000302234 / 17q21.1-q21.2 / --- / 21095018
CCR1 / RANTES receptor; chemokine (C-C motif) receptor 1 / ENSP00000296140 / 3p21 / --- / ---
CCR3 / Eosinophil eotaxin receptor; chemokine (C-C motif) receptor 3 / ENSP00000350003 / 3p21.3 / --- / ---
CD38 / CD38 molecule / ENSP00000226279 / 4p15 / Yes / 20435366
CER1 / Cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) / ENSP00000370297 / 9p23-p22 / --- / ---
CNTNAP2 / AUTS15, NRXN4; contactin associated protein-like 2 / ENSP00000354778 / 7q35 / Yes / 18179894
DISC1 / Disrupted in schizophrenia 1 / ENSP00000355596 / 1q42.1 / Yes / 17579608
DLG1 / Discs, large homolog 1 (Drosophila) / ENSP00000345731 / 3q29 / Yes / 20830797
DLG4 / Discs, large homolog 4 (Drosophila) / ENSP00000293813 / 17p13.1 / Yes / 20952458
DRD1 / Dopamine receptor D1 / ENSP00000327652 / 5q35.1 / Yes / 18205172
DRD2 / Dopamine receptor D2 / ENSP00000354859 / 11q23 / --- / 11857571
DRD3 / Dopamine receptor D3 / ENSP00000373169 / 3q13.3 / Yes / 21691864
EGR1 / Early growth response 1 / ENSP00000239938 / 5q31.1 / --- / ---
FMR1 / Fragile X mental retardation 1 / ENSP00000359506 / Xq27.3 / --- / 2031184
FOXP2 / Forkhead box P2 / ENSP00000386200 / 7q31 / Yes / 15108192
11894222
FZD1 / Frizzled homolog 1 (Drosophila) / ENSP00000287934 / 7q21 / --- / ---
FZD2 / Frizzled homolog 2 (Drosophila) / ENSP00000323901 / 17q21.1 / --- / ---
FZD3 / Frizzled homolog 3 (Drosophila) / ENSP00000240093 / 8p21 / --- / ---
FZD4 / Frizzled homolog 4 (Drosophila) / ENSP00000311581 / 11q14.2 / --- / ---
FZD5 / Frizzled homolog 5 (Drosophila) / ENSP00000354607 / 2q33.3 / --- / ---
FZD6 / Frizzled homolog 6 (Drosophila) / ENSP00000351605 / 8q22.3-q23.1 / --- / ---
FZD7 / Frizzled homolog 7 (Drosophila) / ENSP00000286201 / 2q33 / --- / ---
FZD8 / Frizzled homolog 8 (Drosophila) / ENSP00000363826 / 10p11.21 / --- / ---
FZD9 / Frizzled homolog 9 (Drosophila) / ENSP00000345785 / 7q11.23 / --- / ---
FZD10 / Frizzled homolog 10 (Drosophila) / ENSP00000229030 / 12q24.33 / --- / ---
GABRA4 / γ-aminobutyric acid (GABA) A receptor, α 4 / ENSP00000264318 / 4p12 / --- / 16080114
GABRB3 / γ-aminobutyric acid (GABA) A receptor, β 3 / ENSP00000299267 / 15q11.2-q12 / Yes / 11920158
GDNF / Glial cell derived neurotrophic factor / ENSP00000317145 / 5p13.1-p12 / --- / ---
GFAP / Glial fibrillary acidic protein / ENSP00000253408 / 17q21 / --- / 11706102
GGT1 / γ-glutamyltransferase 1 / ENSP00000248923 / 22q11.23 / --- / ---
GGT2 / γ-glutamyltransferase 8 pseudogene / ENSP00000385721 / 22q11.21 / --- / ---
GJA1 / CX43, connexin-43; gap junction protein, α 1, 43kDa / ENSP00000282561 / 6q21-q23.2 / --- / 18435417
GLO1 / Glyoxalase I / ENSP00000362463 / 6p21.3-6p21.1 / Yes / 15386471
GLRX2 / Glutaredoxin 2 / ENSP00000356410 / 1q31.2-q31.3 / --- / ---
GPX1 / Glutathione peroxidase 1 / ENSP00000407375 / 3p21.3 / Yes / 19195803
GRIA1 / GLUR1; glutamate receptor, ionotropic, AMPA 1 / ENSP00000285900 / 5q31.1 / --- / 11706102
GRIK2 / GLUR6; glutamate receptor, ionotropic, kainate 2 / ENSP00000397026 / 6q16.3-q21 / --- / 11920157
GRIN2A / NMDAR2A; glutamate receptor, ionotropic, N-methyl D-aspartate 2A / ENSP00000332549 / 16p13.2 / Yes / 15830322
GRIN2B / NMDAR2B; glutamate receptor, ionotropic, N-methyl D-aspartate 2B / ENSP00000279593 / 12p12 / Yes / 21383861
21572417
GRM8 / GLUR8; glutamate receptor, metabotropic 8 / ENSP00000344173 / 7q31.3-q32.1 / --- / 12676915
HOMER1 / Homer homolog 1 (Drosophila) / ENSP00000334382 / 5q14.2 / --- / ---
HOMER3 / Homer homolog 3 (Drosophila) / ENSP00000348150 / 19p13.11 / --- / ---
IL6 / Interleukin 6 (interferon, β 2) / ENSP00000258743 / 7p21 / --- / 15546155
IL6ST / Interleukin 6 signal transducer (gp130, oncostatin M receptor) / ENSP00000338799 / 5q11.2 / --- / ---
IL6R / Interleukin 6 receptor / ENSP00000357470 / 1q21 / --- / ---
IL10 / Interleukin 10 / ENSP00000412237 / 1q31-q32 / --- / 15546155
IL10RA / Interleukin 10 receptor, α / ENSP00000227752 / 11q23 / --- / ---
IL10RB / Interleukin 10 receptor, β / ENSP00000290200 / 21q22.11 / --- / ---
IL23A / Interleukin 23, alpha subunit p19 / ENSP00000228534 / 12q13.3 / --- / 19800697
IL23R / Interleukin 23 receptor / ENSP00000321345 / 1p31.3 / --- / ---
LEP / Leptin / ENSP00000312652 / 7q31.3 / --- / 20478355
LRP6 / Low density lipoprotein receptor-related protein 6 / ENSP00000261349 / 12p13.2 / --- / ---
MAPK7 / Mitogen-activated protein kinase 7 / ENSP00000311005 / 17p11.2 / --- / 21848643
MBP / Myelin basic protein / ENSP00000348273 / 18q23 / --- / 7682457
MECP2 / Methyl CpG binding protein 2 (Rett syndrome) / ENSP00000395535 / Xq28 / --- / 11106359
MET / Hepatocyte growth factor receptor; met proto-oncogene / ENSP00000317272 / 7q31 / Yes / 17053076
MSRA / Methionine sulfoxide reductase A / ENSP00000313921 / 8p23.1 / --- / ---
MTNR1A / Melatonin receptor 1A / ENSP00000302811 / 4q35.1 / --- / 20377855
MTNR1B / Melatonin receptor 1B / ENSP00000257068 / 11q21-q22 / --- / 20377855
NEUROD1 / Neurogenic differentiation 1 / ENSP00000295108 / 2q32 / --- / 14593429
15542242
NGF / Nerve growth factor (β polypeptide) / ENSP00000358525 / 1p13.1 / --- / ---
NGFR / Nerve growth factor receptor (TNFR superfamily, member 16) / ENSP00000172229 / 17q21-q22 / --- / ---
NLGN3 / Neuroligin 3 / ENSP00000363163 / Xq13.1 / --- / 12669065
15389766
18189281
NLGN4X / Neuroligin 4, X-linked / ENSP00000275857 / Xp22.33 / --- / 12669065
18189281
NLGN4Y / Neuroligin 4, Y-linked / ENSP00000342535 / Yq11.221 / --- / 18628683
NR5A1 / Nuclear receptor subfamily 5, group A, member 1 / ENSP00000362690 / 9q33 / --- / ---
NRXN1 / Neurexin 1 / ENSP00000385142 / 2p16.3 / Yes / 18179900
OXTR / Oxytocin receptor / ENSP00000324270 / 3p25 / Yes / 20094064
PITX1 / Paired-like homeodomain 1 / ENSP00000265340 / 5q31.1 / Yes / 18628683
PORCN / Porcupine homolog (Drosophila) / ENSP00000322304 / Xp11.23 / --- / ---
POU1F1 / POU class 1 homeobox 1 / ENSP00000342931 / 3p11 / --- / ---
PRKCA / PKC-α; protein kinase C, α / ENSP00000284384 / 17q22-q23.2 / --- / ---
PSAP2 / SHANK3; SH3 and multiple ankyrin repeat domains 3 / ENSP00000262795 / 22q13.3 / --- / 17173049
PTEN / Phosphatase and tensin homolog / ENSP00000361021 / 10q23.3 / --- / 17427195
RAC1 / Ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) / ENSP00000348461 / 7p22 / --- / ---
RAC2 / Ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) / ENSP00000249071 / 22q13.1 / --- / ---
RAC3 / Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) / ENSP00000304283 / 17q25.3 / --- / ---
RBPMS / HERMES; RNA binding protein with multiple splicing / ENSP00000340176 / 8p12 / --- / ---
RELN / Reelin / ENSP00000392423 / 7q22 / Yes / 16311013
15048648
RHOXF2 / Rhox homeobox family, member 2 / ENSP00000360441 / Xq24 / --- / ---
ROBO1 / Roundabout, axon guidance receptor, homolog 1 (Drosophila) / ENSP00000381450 / 3p12 / --- / 18270976
ROBO2 / Roundabout, axon guidance receptor, homolog 2 (Drosophila) / ENSP00000417164 / 3p12.3 / --- / 18270976
21859478
RORA / RAR-related orphan receptor A / ENSP00000261523 / 15q22.2 / --- / 20375269
SFRP1 / Secreted frizzled-related protein 1 / ENSP00000220772 / 8p11.21 / --- / ---
SFRP2 / Secreted frizzled-related protein 2 / ENSP00000274063 / 4q31.3 / --- / ---
SFRP4 / Secreted frizzled-related protein 4 / ENSP00000410715 / 7p14.1 / --- / ---
SFRP5 / Secreted frizzled-related protein 5 / ENSP00000266066 / 10q24.1 / --- / ---
SLC6A4 / SERT, 5-HTT; solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 / ENSP00000261707 / 17q11.2 / Yes / 18804097
SMARCA2 / SWI2; SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 / ENSP00000265773 / 9p22.3 / --- / ---
SSTR1 / Somatostatin receptor 1 / ENSP00000267377 / 14q13 / --- / ---
SSTR2 / Somatostatin receptor 2 / ENSP00000350198 / 17q24 / --- / ---
SSTR3 / Somatostatin receptor 3 / ENSP00000330138 / 22q13.1 / --- / ---
TGFB1 / Transforming growth factor, β 1 / ENSP00000221930 / 19q13.2 / --- / 17030376
TH / Tyrosine hydroxylase / ENSP00000370571 / 11p15.5 / --- / 7786965
11857571
TSC1 / Tuberous sclerosis 1 / ENSP00000298552 / 9q34 / --- / 9813776
12023313
16901420
TSC2 / Tuberous sclerosis 2 / ENSP00000219476 / 16p13.3 / --- / 9813776
12023313
16901420
UBE3A / Ubiquitin protein ligase E3A / ENSP00000381045 / 15q11.2 / Yes / 20609483
WIF1 / WNT inhibitory factor 1 / ENSP00000286574 / 12q14.3 / --- / ---
WNT1 / Wingless-type MMTV integration site family, member 1 / ENSP00000293549 / 12q13 / --- / ---
WNT2 / Wingless-type MMTV integration site family, member 2 / ENSP00000265441 / 7q31.2 / Yes / 19895723
15048648
WNT3 / Wingless-type MMTV integration site family, member 3 / ENSP00000225512 / 17q21 / --- / ---
WNT3A / Wingless-type MMTV integration site family, member 3A / ENSP00000284523 / 1q42 / --- / ---
WNT5A / Wingless-type MMTV integration site family, member 5A / ENSP00000264634 / 3p21-p14 / --- / ---