geno logo
     HELP     Sign In

Quick Links

TOOLS

 

Human Gene Search Results

Unique ID Gene Symbol Gene Name Chromosome Loc Genetic Category Gene Ranking Biallelic # of Variants Associated Disorders # of Reports Primary Reference Display
GEN002 ADA adenosine deaminase 20q13.12 Genetic Association
2
 6 8 Bottini N , et al. 2001 Edit
GEN407 ADARB1 Adenosine deaminase, RNA-specific, B1 21q22.3 Functional
2
 11 6 Eran A , et al. 2012 Edit
GEN890 ADCY3 adenylate cyclase 3 2p23.3 Rare single gene variant
3
 7 4 De Rubeis S , et al. 2014 Edit
GEN471 ADNP Activity-dependent neuroprotector homeobox 20q13.13 Rare Single Gene variant
5
 202 82 O'Roak BJ , et al. 2012 Edit
GEN003 ADORA2A adenosine A2a receptor 22q11.23 Genetic association
2 7 Freitag CM , et al. 2009 Edit
GEN005 ADSL adenylosuccinate lyase 22q13.1 Rare Single Gene variant
2
 10 9 Sivendran S , et al. 2004 Edit
GEN047 AGAP1 ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 2q37.2 Rare Single Gene variant, Genetic Association
2
 17 10 Wassink TH , et al. 2005 Edit
GEN889 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 12q14.1 Rare single gene variant
3
 16 6 De Rubeis S , et al. 2014 Edit
GEN673 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
2
 25 6 Li J , et al. 2015 Edit
GEN570 APP Amyloid beta (A4) precursor protein 21q21.3 Functional
2
 2 5 Bailey AR , et al. 2013 Edit
GEN1382 ARF3 ADP ribosylation factor 3 12q13.12 Rare single gene variant
2
 11 5 Feliciano P et al. 2019 Edit
GEN015 ARHGAP15 Rho GTPase activating protein 15 2q22.2-q22.3 Rare Single Gene variant
2
 5 9 O'Roak BJ , et al. 2011 Edit
GEN1089 ARID2 AT-rich interaction domain 2 12q12 Rare single gene variant
4
 58 17 Iossifov I et al. 2014 Edit
GEN1039 ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 2p25.1 Rare single gene variant
2
 10 5 De Rubeis S , et al. 2014 Edit
GEN1313 ATP2B1 ATPase plasma membrane Ca2+ transporting 1 12q21.33 Syndromic
3
 13 2 Rahimi MJ et al. 2022 Edit
GEN941 ATP6V0A2 ATPase H+ transporting V0 subunit a2 12q24.31 Rare single gene variant
2
 23 5 Krumm N , et al. 2015 Edit
GEN788 AVP Arginine vasopressin 20p13 Functional
2 4 Feifel D , et al. 2009 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
2
 37 24 Yirmiya N , et al. 2006 Edit
GEN975 BAZ2B bromodomain adjacent to zinc finger domain 2B 2q24.2 Rare single gene variant
4
 26 8 Iossifov I et al. 2014 Edit
GEN674 BCAS1 breast carcinoma amplified sequence 1 20q13.2 Rare single gene variant
2
 8 5 Li J , et al. 2015 Edit
GEN643 BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) 2p16.1 Rare single gene variant
4
 42 26 Iossifov I , et al. 2012 Edit
GEN040 BICDL1 BICD family like cargo adaptor 1 12q24.23 Genetic Association
2 2 Wang K , et al. 2009 Edit
GEN425 BIN1 bridging integrator 1 2q14.3 Rare single gene variant
2
 6 5 Connolly JJ , et al. 2012 Edit
GEN702 BIRC6 Baculoviral IAP repeat containing 6 2p22.3 Rare single gene variant
4
 50 13 Iossifov I , et al. 2012 Edit
GEN1279 BRD1 bromodomain containing 1 22q13.33 Genetic association
3
 11 6 Wilfert AB et al. 2021 Edit
GEN544 C12orf57 Chromosome 12 open reading frame 57 12p13.31 Syndromic
2
 45 15 Akizu N , et al. 2013 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
4
 86 63 Splawski I , et al. 2004 Edit
GEN488 CACNA1I Calcium channel, voltage-dependent, T type, alpha 1I subunit 22q13.1 Genetic association
3
 22 10 Lu AT , et al. 2012 Edit
GEN1409 CACNG2 calcium voltage-gated channel auxiliary subunit gamma 2 22q12.3 Rare single gene variant/Functional
2
 4 6 Rolland T et al. 2023 Edit
GEN1269 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 2p23.3 Rare single gene variant
2
 8 6 Wilfert AB et al. 2021 Edit
GEN039 CBS cystathionine beta-synthase 21q22.3 Functional, Negative association
2
 9 10 Levy HL , et al. 2002 Edit
GEN799 CCDC91 coiled-coil domain containing 91 12p11.22 Rare single gene variant
2
 5 6 Shen Y , et al. 2010 Edit
GEN752 CCT4 Chaperonin containing TCP1, subunit 4 (delta) 2p15 Rare single gene variant
2
 2 3 Iossifov I et al. 2014 Edit
GEN043 CDH22 cadherin-like 22 20q13.12 Genetic Association
2 4 Wang K , et al. 2009 Edit
GEN532 CDKN1B cyclin dependent kinase inhibitor 1B 12p13.1 Multigenic CNV/rare single gene variant
2
 Yes 2 1 Grey W , et al. 2013 Edit
GEN507 CECR2 CECR2, histone acetyl-lysine reader 22q11.1-q11.21 Rare single gene variant
2
 8 3 Prasad A , et al. 2013 Edit
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
3
 24 14 Coppieters F , et al. 2010 Edit
GEN741 CHKB Choline kinase beta 22q13.33 Syndromic
2
 Yes 39 9 Haliloglu G , et al. 2015 Edit
GEN891 CLASP1 cytoplasmic linker associated protein 1 2q14.2-q14.3 Rare single gene variant
2
 5 4 De Rubeis S , et al. 2014 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
2
 6 7 Pettem KL , et al. 2013 Edit
GEN349 CLTCL1 clathrin, heavy chain-like 1 22q11.21 Rare single gene variant
2
 Yes 27 8 Chahrour MH , et al. 2012 Edit
GEN1098 CMPK2 cytidine/uridine monophosphate kinase 2 2p25.2 Rare single gene variant
2
 4 4 Iossifov I et al. 2014 Edit
GEN052 CNTNAP5 contactin associated protein-like 5 2q14.3 Genetic Association
3
 24 16 Pagnamenta AT , et al. 2010 Edit
GEN996 CSNK1E casein kinase 1 epsilon 22q13.1 Functional
3
 7 8 De Rubeis S , et al. 2014 Edit
GEN1196 CSNK2A1 casein kinase 2 alpha 1 20p13 Rare single gene variant
4
 46 17 Iossifov I et al. 2014 Edit
GEN1023 CTNNA2 catenin alpha 2 2p12 Syndromic
2
 10 5 Schaffer AE , et al. 2018 Edit
GEN409 CUL3 Cullin 3 2q36.2 Rare single gene variant
4
 56 35 O'Roak BJ , et al. 2012 Edit
GEN1011 CUX2 cut like homeobox 2 12q24.11-q24.12 Rare single gene variant
3
 30 15 De Rubeis S , et al. 2014 Edit
GEN1017 CYP27A1 cytochrome P450 family 27 subfamily A member 1 2q35 Syndromic
0
 15 6 Stelten BML , et al. 2017 Edit
GEN062 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 12p11.21 Functional
0 3 Hu VW , et al. 2006 Edit
GEN1253 DDX23 DEAD-box helicase 23 12q13.12 Rare single gene variant
2
 10 2 Burns W et al. 2021 Edit
GEN825 DENR density-regulated protein 12q24.31 Rare single gene variant
3
 3 4 Neale BM , et al. 2012 Edit
GEN541 DEPDC5 DEP domain containing 5 22q12.2-q12.3 Syndromic
3
 106 23 Dibbens LM , et al. 2013 Edit
GEN644 DIP2A DIP2 disco-interacting protein 2 homolog A (Drosophila) 21q22.3 Rare single gene variant
3
 18 14 Iossifov I , et al. 2012 Edit
GEN1078 DLGAP4 DLG associated protein 4 20q11.23 Functional
2
 4 4 Schob C , et al. 2019 Edit
GEN067 DLX1 distal-less homeobox 1 2q31.1 Genetic Association
2
 5 9 Liu X , et al. 2008 Edit
GEN068 DLX2 distal-less homeobox 2 2q31.1 Genetic Association
2 11 Liu X , et al. 2008 Edit
GEN703 DNAH10 Dynein, axonemal, heavy chain 10 12q24.31 Rare single gene variant
4
 101 10 Iossifov I , et al. 2012 Edit
GEN395 DNER Delta/notch-like EGF repeat containing 2q36.3 Genetic association
2
 4 3 Anney R , et al. 2012 Edit
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
2
 10 9 Anitha A , et al. 2012 Edit
GEN762 DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 2p23.3 Rare single gene variant
4
 116 32 Sanders SJ , et al. 2015 Edit
GEN539 DOCK10 Dedicator of cytokinesis 10 2q36.2 Rare single gene variant
2
 Yes 4 2 Nava C , et al. 2013 Edit
GEN072 DPP10 Dipeptidyl-peptidase 10 2q14.1 Rare Single Gene variant
2
 16 13 Marshall CR , et al. 2008 Edit
GEN750 DPP4 Dipeptidyl-peptidase 4 2q24.2 Rare single gene variant
2
 Yes 6 6 Lim ET , et al. 2013 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
4
 102 18 Iossifov I et al. 2014 Edit
GEN836 DUSP15 dual specificity phosphatase 15 20q11.21 Rare single gene variant
2
 10 7 Tian Y , et al. 2016 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
5
 278 80 O'Roak BJ , et al. 2012 Edit
GEN608 EEF1A2 Eukaryotic translation elongation factor 1 alpha 2 20q13.33 Syndromic
3
 68 23 Nakajima J , et al. 2014 Edit
GEN308 EP300 E1A binding protein p300 22q13.2 Syndromic
4
 55 26 Vaags AK , et al. 2012 Edit
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
4
 Yes 71 10 Chahrour MH , et al. 2012 Edit
GEN365 EPC2 Enhancer of polycomb homolog 2 (Drosophila) 2q23.1 Rare single gene variant
2
 7 6 Jaillard S , et al. 2008 Edit
GEN574 EPS8 epidermal growth factor receptor pathway substrate 8 12p12.3 Functional
0 1 Menna E , et al. 2013 Edit
GEN081 ERBB4 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) 2q34 Rare Single Gene variant
2
 15 18 Pinto D , et al. 2010 Edit
GEN404 ERG ERG, ETS transcription factor 21q22.2 Genetic association
1 1 Anney R , et al. 2012 Edit
GEN838 ERMN ermin 2q24.1 Rare single gene variant
3
 8 1 Homs A , et al. 2016 Edit
GEN525 EXOC6B exocyst complex component 6B 2p13.2 Rare single gene variant
2
 7 5 Frhmesser A , et al. 2013 Edit
GEN1177 FBRSL1 fibrosin like 1 12q24.33 Syndromic
2
 5 3 Ufartes R et al. 2020 Edit
GEN1027 FBXO11 F-box protein 11 2p16.3 Rare single gene variant
4
 80 12 Krumm N , et al. 2015 Edit
GEN606 GAD1 Glutamate decarboxylase 1 (brain, 67kDa) 2q31.1 Functional
2
 4 7 Yip J , et al. 2007 Edit
GEN102 GALNT13 polypeptide N-acetylgalactosaminyltransferase 13 2q23.3-q24.1 Rare Single Gene variant
2
 7 5 Bucan M , et al. 2009 Edit
GEN396 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14 2p23.1 Genetic association
2
 11 7 Anney R , et al. 2012 Edit
GEN1042 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 12p13.32 Rare single gene variant
2
 10 3 Kushima I , et al. 2018 Edit
GEN721 GIGYF2 GRB10 interacting GYF protein 2 2q37.1 Rare single gene variant
3
 26 9 De Rubeis S , et al. 2014 Edit
GEN105 GNAS GNAS complex locus 20q13.32 Rare Single Gene variant, Genetic Association
2
 14 9 Kim SJ , et al. 2000 Edit
GEN304 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like 22q11.21 Rare Single Gene variant
2
 8 3 Chen YZ , et al. 2011 Edit
GEN535 GPD2 glycerol-3-phosphate dehydrogenase 2 2q24.1 Rare single gene variant
2
 Yes 6 5 Barge-Schaapveld DQ , et al. 2013 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
5
 242 85 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
3
 14 14 Mejias R , et al. 2011 Edit
GEN117 HDAC4 histone deacetylase 4 2q37.3 Syndromic
3
 19 18 Williams SR , et al. 2010 Edit
GEN1004 HDLBP high density lipoprotein binding protein 2q37.3 Multigenic CNV
3
 8 6 O'Roak BJ , et al. 2012 Edit
GEN900 HECTD4 HECT domain E3 ubiquitin protein ligase 4 12q24.13 Rare single gene variant
4
 27 10 De Rubeis S , et al. 2014 Edit
GEN737 HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 2q32.3 Rare single gene variant
3
 51 19 Krumm N , et al. 2015 Edit
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
11 1 Abuhatzira L , et al. 2011 Edit
GEN840 IFNG interferon gamma 12q15 Functional
0 13 Singh VK 1996 Edit
GEN1182 IGF1 insulin like growth factor 1 12q23.2 Functional
3
 20 8 Tran KT et al. 2020 Edit
GEN974 IL17RA interleukin 17 receptor A 22q11.1 Rare single gene variant
2
 5 6 Choi GB , et al. 2016 Edit
GEN132 IL1R2 interleukin 1 receptor, type II 2q11.2 Rare Single Gene variant
2
 5 8 O'Roak BJ , et al. 2011 Edit
GEN135 INPP1 inositol polyphosphate-1-phosphatase 2q32.2 Genetic Association
2
 4 5 Serajee FJ , et al. 2003 Edit
GEN136 ITGA4 integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 2q31.3 Genetic Association
2
 11 7 Ramoz N , et al. 2008 Edit
GEN138 ITGB7 integrin, beta 7 12q13.13 Functional
2
 4 5 Hu VW , et al. 2006 Edit
GEN1119 ITSN1 intersectin 1 21q22.11 Rare single gene variant
4
 45 10 De Rubeis S , et al. 2014 Edit
GEN938 KCNB1 potassium voltage-gated channel subfamily B member 1 20q13.13 Rare single gene variant
4
 119 28 de Kovel CGF , et al. 2017 Edit
GEN1314 KCNC2 potassium voltage-gated channel subfamily C member 2 12q21.1 Rare single gene variant
3
 42 13 Satterstrom FK et al. 2020 Edit
GEN687 KCNJ15 potassium voltage-gated channel subfamily J member 15 21q22.13-q22.2 Rare single gene variant
2
 3 3 Li J , et al. 2015 Edit
GEN553 KCNQ2 potassium voltage-gated channel subfamily Q member 2 20q13.33 Genetic association
4
 129 57 Jiang YH , et al. 2013 Edit
GEN1058 KCNS3 potassium voltage-gated channel modifier subfamily S member 3 2p24.2 Rare single gene variant
2
 5 6 De Rubeis S , et al. 2014 Edit
GEN1364 KDM2B lysine demethylase 2B 12q24.31 Syndromic
3
 28 10 Iossifov I et al. 2014 Edit
GEN1386 KDM3A lysine demethylase 3A 2p11.2 Rare single gene variant
3
 18 4 De Rubeis S , et al. 2014 Edit
GEN1232 KDM5A lysine demethylase 5A 12p13.33 Rare single gene variant/Functional
2
 Yes 10 5 El Hayek L et al. 2020 Edit
GEN1243 KIF1A kinesin family member 1A 2q37.3 Rare single gene variant
3
 20 14 Tomaselli PJ et al. 2017 Edit
GEN389 KIF5C Kinesin family member 5C 2q23.1-q23.2 Rare single gene variant
3
 36 14 Awadalla P , et al. 2010 Edit
GEN1240 KIZ kizuna centrosomal protein 20p11.23 Genetic association
1 2 Grove J , et al. 2019 Edit
GEN1311 KLF7 Kruppel like factor 7 2q33.3 Multigenic CNV
3
 18 14 Powis Z et al. 2018 Edit
GEN779 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 12q21.2 Genetic association
2
 5 3 Kuo PH , et al. 2015 Edit
GEN1352 LEMD3 LEM domain containing 3 12q14.3 Rare single gene variant
2
 3 3 Zhou X et al. 2022 Edit
GEN1026 LNPK lunapark, ER junction formation factor 2q31.1 Syndromic
15 4 Breuss MW , et al. 2018 Edit
GEN1088 LRP1 LDL receptor related protein 1 12q13.3 Rare single gene variant
4
 45 10 De Rubeis S , et al. 2014 Edit
GEN362 LRP2 LDL receptor related protein 2 2q31.1 Rare single gene variant
4
 69 20 Ionita-Laza I , et al. 2012 Edit
GEN436 LRPPRC leucine rich pentatricopeptide repeat containing 2p21 Functional
2
 6 6 Anitha A , et al. 2012 Edit
GEN730 LZTR1 Leucine-zipper-like transcription regulator 1 22q11.21 Rare single gene variant
3
 26 18 Krumm N , et al. 2015 Edit
GEN148 MACROD2 MACRO domain containing 2 20p12.1 Genetic Association
2
 19 22 Anney R , et al. 2010 Edit
GEN668 MAL mal, T-cell differentiation protein 2q11.1 Functional
0 2 Gupta S , et al. 2014 Edit
GEN150 MAP2 microtubule-associated protein 2 2q34 Rare Single Gene variant
2
 5 7 Mukaetova-Ladinska EB , et al. 2004 Edit
GEN1369 MAP4K4 mitogen-activated protein kinase kinase kinase kinase 4 2q11.2 Rare single gene variant
3
 4 2 Zhou X et al. 2022 Edit
GEN418 MAPK1 Mitogen-activated protein kinase 1 22q11.22 Functional
2
 11 5 Satoh Y , et al. 2011 Edit
GEN691 MAPK12 mitogen-activated protein kinase 12 22q13.33 Rare single gene variant
0
 3 2 Li J , et al. 2015 Edit
GEN419 MAPK8IP2 Mitogen-activated protein kinase 8 interacting protein 2 22q13.33 Functional
0 1 Giza J , et al. 2010 Edit
GEN345 MBD5 Methyl-CpG binding domain protein 5 2q23.1 Rare single gene variant
4
 125 43 Wagenstaller J , et al. 2007 Edit
GEN437 MBD6 Methyl-CpG binding domain protein 6 12q13.3 Rare single gene variant
3
 17 3 Cukier HN , et al. 2012 Edit
GEN1000 MCM6 minichromosome maintenance complex component 6 2q21.3 Rare single gene variant
3
 10 4 Iossifov I et al. 2014 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
4
 126 54 Iossifov I , et al. 2012 Edit
GEN1091 MEMO1 mediator of cell motility 1 2p22.3 Rare single gene variant
2
 1 2 Iossifov I et al. 2014 Edit
GEN438 MTX2 Metaxin 2 2q31.1 Functional
0 1 Anitha A , et al. 2012 Edit
GEN1230 MYH9 myosin heavy chain 9 22q12.3 Rare single gene variant
4
 62 8 Wang T et al. 2020 Edit
GEN165 MYO1A myosin IA 12q13.3 Rare Single Gene variant
2
 22 12 O'Roak BJ , et al. 2011 Edit
GEN533 MYT1L Myelin transcription factor 1-like 2p25.3 Multigenic CNV
5
 147 39 Meyer KJ , et al. 2011 Edit
GEN1347 NAV3 neuron navigator 3 12q21.2 Rare single gene variant
4
 44 5 Zhou X et al. 2022 Edit
GEN1212 NCAPH2 non-SMC condensin II complex subunit H2 22q13.33 Rare single gene variant
2
 2 1 Luo Y et al. 2020 Edit
GEN650 NCKAP1 NCK-associated protein 1 2q32.1 Rare single gene variant
4
 39 15 Iossifov I , et al. 2012 Edit
GEN492 NCKAP5 NCK-associated protein 5 2q21.2 Rare single gene variant
2
 10 3 Prasad A , et al. 2013 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
2
 Yes 12 4 Chahrour MH , et al. 2012 Edit
GEN1170 NCOA1 nuclear receptor coactivator 1 2p23.3 Rare single gene variant
3
 7 4 Iossifov I et al. 2014 Edit
GEN766 NINL Ninein-like 20p11.21 Rare single gene variant
2
 11 10 Sanders SJ , et al. 2015 Edit
GEN1241 NKX2-2 NK2 homeobox 2 20p11.22 Genetic association
1 2 Grove J , et al. 2019 Edit
GEN694 NOS1 nitric oxide synthase 1 12q24.22 Rare single gene variant
2
 7 6 Li J , et al. 2015 Edit
GEN176 NPAS2 neuronal PAS domain protein 2 2q11.2 Genetic Association
3 4 Nicholas B , et al. 2007 Edit
GEN1016 NR4A2 nuclear receptor subfamily 4 group A member 2 2q24.1 Rare single gene variant
3
 20 10 Lvy J , et al. 2018 Edit
GEN178 NRP2 neuropilin 2 2q33.3 Genetic Association
2
 6 10 Wu S , et al. 2007 Edit
GEN179 NRXN1 neurexin 1 2p16.3 Rare Single Gene variant
5
 Yes 361 113 Feng J , et al. 2006 Edit
GEN756 NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Rare single gene variant
2
 4 6 Iossifov I , et al. 2012 Edit
GEN376 OTX1 orthodenticle homeobox 1 2p15 Genetic association
4 3 Liu X , et al. 2011 Edit
GEN828 OXT oxytocin/neurophysin I prepropeptide 20p13 Genetic association
2
 9 5 Ebstein RP , et al. 2009 Edit
GEN629 P2RX4 Purinergic receptor P2X, ligand-gated ion channel, 4 12q24.31 Functional
0 1 Wyatt LR , et al. 2013 Edit
GEN527 PAH Phenylalanine hydroxylase 12q23.2 Rare single gene variant
2
 Yes 22 12 Yu TW , et al. 2013 Edit
GEN1067 PAPOLG poly(A) polymerase gamma 2p16.1 Rare single gene variant
3
 10 6 De Rubeis S , et al. 2014 Edit
GEN391 PARD3B Par-3 partitioning defective 3 homolog B (C. elegans) 2q33.3 Genetic association
2
 13 9 Anney R , et al. 2012 Edit
GEN948 PDCD1 programmed cell death 1 2q37.3 Rare single gene variant
2
 3 4 O'Roak BJ , et al. 2012 Edit
GEN276 PECR peroxisomal trans-2-enoyl-CoA reductase 2q35 Rare Single Gene variant
0
 Yes 4 3 Najmabadi H , et al. 2011 Edit
GEN899 PER2 period circadian clock 2 2q37.3 Rare single gene variant
3
 14 8 Iossifov I et al. 2014 Edit
GEN316 PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 20p12.3 Rare Single Gene variant
2
 18 9 Christian SL , et al. 2008 Edit
GEN1114 PLCD4 phospholipase C delta 4 2q35 Rare single gene variant
2
 4 5 De Rubeis S , et al. 2014 Edit
GEN1092 POU3F3 POU class 3 homeobox 3 2q12.1 Syndromic
3
 41 4 Snijders Blok L , et al. 2019 Edit
GEN791 PREX1 Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 20q13.13 Genetic association/Rare single gene variant/Functional
3
 11 6 Li J , et al. 2015 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
2
 9 7 Paemka L , et al. 2013 Edit
GEN639 PRODH Proline dehydrogenase (oxidase) 1 22q11.21 Syndromic
24 8 Afenjar A , et al. 2007 Edit
GEN1378 PRR14L proline rich 14 like 22q12.2 Rare single gene variant
3
 5 5 C Yuen RK et al. 2017 Edit
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
3
 44 27 Tartaglia M , et al. 2001 Edit
GEN1293 PTPN4 protein tyrosine phosphatase non-receptor type 4 2q14.2 Syndromic
2
 10 5 Chmielewska JJ et al. 2021 Edit
GEN605 PTPRB protein tyrosine phosphatase, receptor type B 12q15 Genetic association
2
 6 6 Wittkowski KM , et al. 2014 Edit
GEN314 PTPRT protein tyrosine phosphatase, receptor type, T 20q12-q13.11 Rare Single Gene variant
2
 13 11 Christian SL , et al. 2008 Edit
GEN734 PVALB Parvalbumin 22q12.3 Functional
0 2 Whr M , et al. 2015 Edit
GEN534 PXDN peroxidasin 2p25.3 Multigenic CNV
2
 12 8 Meyer KJ , et al. 2011 Edit
GEN370 RAB11FIP5 RAB11 family interacting protein 5 2p13.2 Rare single gene variant
2
 5 6 Roohi J , et al. 2008 Edit
GEN951 RAD21L1 RAD21 cohesin complex component like 1 20p13 Rare single gene variant
2
 4 3 Iossifov I , et al. 2012 Edit
GEN1054 RALGAPB Ral GTPase activating protein non-catalytic beta subunit 20q11.23 Rare single gene variant
4
 16 6 De Rubeis S , et al. 2014 Edit
GEN209 RAPGEF4 Rap guanine nucleotide exchange factor (GEF) 4 2q31.1 Rare Single Gene variant, Genetic Association
3
 10 18 Bacchelli E , et al. 2003 Edit
GEN1235 RFX4 regulatory factor X4 12q23.3 Rare single gene variant
2
 Yes 5 2 Harris HK et al. 2021 Edit
GEN1266 RIF1 replication timing regulatory factor 1 2q23.3 Rare single gene variant
3
 13 3 Wilfert AB et al. 2021 Edit
GEN1122 RNF25 ring finger protein 25 2q35 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN1407 RPH3A rabphilin 3A 12q24.13 Rare single gene variant
3
 13 7 Pavinato L et al. 2023 Edit
GEN1131 RPS10P2-AS1 ribosomal protein S10 pseudogene 2 anti-sense 1 20p12.1 Genetic association
3 4 Anney R , et al. 2010 Edit
GEN346 SATB2 SATB homeobox 2 2q33.1 Syndromic
4
 228 45 Talkowski ME , et al. 2012 Edit
GEN473 SBF1 SET binding factor 1 22q13.33 Rare Single Gene variant
3
 12 11 O'Roak BJ , et al. 2012 Edit
GEN1203 SCAF4 SR-related CTD associated factor 4 21q22.11 Rare single gene variant
3
 18 6 Fliedner A et al. 2020 Edit
GEN223 SCN1A sodium channel, voltage-gated, type I, alpha subunit 2q24.3 Rare Single Gene variant
4
 269 99 Weiss LA , et al. 2003 Edit
GEN224 SCN2A sodium channel, voltage-gated, type II, alpha subunit 2q24.3 Rare Single Gene variant
5
 426 126 Weiss LA , et al. 2003 Edit
GEN485 SCN7A sodium voltage-gated channel alpha subunit 7 2q24.3 Rare Single Gene variant
3
 Yes 10 7 Morrow EM , et al. 2008 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
4
 226 61 Veeramah KR , et al. 2012 Edit
GEN861 SCN9A sodium voltage-gated channel alpha subunit 9 2q24.3 Rare single gene variant
3
 36 10 Rubinstein M , et al. 2016 Edit
GEN1296 SENP1 SUMO specific peptidase 1 12q13.11 Rare single gene variant
2
 3 3 Yang K et al. 2021 Edit
GEN994 SETD1B SET domain containing 1B 12q24.31 Syndromic
4
 60 20 Iossifov I et al. 2014 Edit
GEN1071 SF3B1 splicing factor 3b subunit 1 2q33.1 Rare single gene variant
3
 10 6 De Rubeis S , et al. 2014 Edit
GEN475 SGSM3 Small G protein signaling modulator 3 22q13.1 Rare Single Gene variant
2
 17 8 O'Roak BJ , et al. 2012 Edit
GEN1125 SH3RF3 SH3 domain containing ring finger 3 2q13 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN230 SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13.33 Rare Single Gene variant
5
 422 154 Durand CM , et al. 2006 Edit
GEN712 SIK1 Salt-inducible kinase 1 21q22.3 Rare single gene variant
2
 10 8 Hansen J , et al. 2015 Edit
GEN783 SLC12A5 Solute carrier family 12 (potassium/chloride transporter), member 5 20q13.12 Rare single gene variant
3
 18 9 Merner ND , et al. 2015 Edit
GEN462 SLC16A7 Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 12q14.1 Rare single gene variant
2
 4 4 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN232 SLC25A12 solute carrier family 25 (mitochondrial carrier, Aralar), member 12 2q31.1 Genetic Association
0
 20 26 Ramoz N , et al. 2004 Edit
GEN835 SLC30A3 solute carrier family 30 member 3 2p23.3 Functional
0 2 Yoo MH , et al. 2016 Edit
GEN234 SLC4A10 solute carrier family 4, sodium bicarbonate transporter-like, member 10 2q24.2 Genetic Association
3
 U 23 10 Sebat J , et al. 2007 Edit
GEN704 SLCO1B3 Solute carrier organic anion transporter family, member 1B3 12p12.2 Rare single gene variant
3
 21 6 De Rubeis S , et al. 2014 Edit
GEN732 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 12q13.2 Functional
4
 88 19 Neale BM , et al. 2012 Edit
GEN701 SNAP25 Synaptosomal-associated protein, 25kDa 20p12.2 Genetic association
0
 10 10 Braida D , et al. 2015 Edit
GEN360 SNTG2 syntrophin gamma 2 2p25.3 Rare single gene variant
2
 6 7 Rosenfeld JA , et al. 2010 Edit
GEN1064 SNX5 sorting nexin 5 20p11.23 Rare single gene variant
2
 4 5 Iossifov I et al. 2014 Edit
GEN604 SOD1 superoxide dismutase 1 21q22.11 Functional
2
 3 3 Kova J , et al. 2013 Edit
GEN1139 SON SONDNA binding protein 21q22.11 Rare single gene variant
4
 85 24 Iossifov I et al. 2014 Edit
GEN366 SOX5 SRY-box 5 12p12.1 Rare single gene variant
4
 80 22 Rosenfeld JA , et al. 2010 Edit
GEN348 SPAST Spastin 2p22.3 Rare Single Gene variant
3
 16 17 Talkowski ME , et al. 2012 Edit
GEN947 SPP2 secreted phosphoprotein 2 2q37.1 Rare single gene variant
2
 5 4 Neale BM , et al. 2012 Edit
GEN1244 SPTBN1 spectrin beta, non-erythrocytic 1 2p16.2 Rare single gene variant
4
 55 11 Iossifov I et al. 2014 Edit
GEN556 SRD5A2 steroid 5 alpha-reductase 2 2p23.1 Genetic association
2
 3 4 Zettergren A , et al. 2013 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
2
 3 7 Irimia M , et al. 2014 Edit
GEN842 STAT1 signal transducer and activator of transcription 1 2q32.2 Rare single gene variant
2
 2 3 Filiano AJ , et al. 2016 Edit
GEN241 STK39 serine threonine kinase 39 (STE20/SPS1 homolog, yeast) 2q24.3 Genetic Association
3 5 Ramoz N , et al. 2008 Edit
GEN778 STYK1 Serine/threonine/tyrosine kinase 1 12p13.2 Genetic association
2
 7 4 Kuo PH , et al. 2015 Edit
GEN564 SYN3 Synapsin III 22q12.3 Functional
2
 6 5 Greco B , et al. 2013 Edit
GEN929 SYNJ1 synaptojanin 1 21q22.11 Rare single gene variant
2
 7 3 Lim ET , et al. 2017 Edit
GEN1034 SYT1 synaptotagmin 1 12q21.2 Rare single gene variant
3
 34 11 De Rubeis S , et al. 2014 Edit
GEN1353 TAF4 TATA-box binding protein associated factor 4 20q13.33 Rare single gene variant
4
 17 5 Zhou X et al. 2022 Edit
GEN995 TAFA2 TAFA chemokine like family member 2 12q14.1 Functional/multigenic CNV
4 1 Choi JH , et al. 2018 Edit
GEN477 TBR1 T-box, brain, 1 2q24.2 Rare Single Gene variant
5
 80 43 O'Roak BJ , et al. 2012 Edit
GEN286 TBX1 T-box 1 22q11.21 Syndromic
2
 4 7 Paylor R , et al. 2006 Edit
GEN633 TCF20 Transcription factor 20 (AR1) 22q13.2 Rare single gene variant
5
 101 27 Babbs C , et al. 2014 Edit
GEN1144 TET3 tet methylcytosine dioxygenase 3 2p13.1 Rare single gene variant
3
 20 7 Beck DB , et al. 2020 Edit
GEN250 TGM3 transglutaminase 3 20p13 Rare Single Gene variant
2
 8 9 O'Roak BJ , et al. 2011 Edit
GEN566 TM4SF20 Transmembrane 4 L six family member 20 2q36.3 Rare single gene variant
2
 18 4 Wiszniewski W , et al. 2013 Edit
GEN1152 TM9SF4 transmembrane 9 superfamily member 4 20q11.21 Rare single gene variant
2
 4 5 De Rubeis S , et al. 2014 Edit
GEN1278 TMEM132D transmembrane protein 132D 12q24.33 Genetic association/Functional
2
 6 4 Wilfert AB et al. 2021 Edit
GEN653 TNRC6B Trinucleotide repeat containing 6B 22q13.1 Rare single gene variant
4
 59 19 Dong S , et al. 2014 Edit
GEN1216 TNS2 tensin 2 12q13.13 Rare single gene variant
2
 8 4 Luo Y et al. 2020 Edit
GEN569 TOP1 Topoisomerase (DNA) I 20q12 Rare Single Gene variant
2
 3 7 King IF , et al. 2013 Edit
GEN561 TOP3B Topoisomerase (DNA) III beta 22q11.22 Rare single gene variant
3
 9 7 Xu D , et al. 2013 Edit
GEN254 TPH2 tryptophan hydroxylase 2 12q21.1 Genetic Association
2
 12 15 Coon H , et al. 2005 Edit
GEN381 TPO Thyroid peroxidase 2p25.3 Genetic association
2 1 Ramos PS , et al. 2012 Edit
GEN354 TRIP12 Thyroid hormone receptor interactor 12 2q36.3 Rare single gene variant
4
 Yes 131 38 Chahrour MH , et al. 2012 Edit
GEN258 TSN translin 2q14.3 Functional
0 3 Stein JM , et al. 2006 Edit
GEN260 TTN titin 2q31.2 Rare Single Gene variant
4
 164 33 O'Roak BJ , et al. 2011 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
2
 Yes 30 11 Chahrour MH , et al. 2012 Edit
GEN873 UNC80 unc-80 homolog, NALCN activator 2q34 Rare single gene variant
3
 22 12 Iossifov I et al. 2014 Edit
GEN509 UPB1 beta-ureidopropionase 1 22q11.23 Rare single gene variant
2
 4 4 Prasad A , et al. 2013 Edit
GEN903 USP15 ubiquitin specific peptidase 15 12q14.1 Rare single gene variant
3
 4 4 O'Roak BJ , et al. 2012 Edit
GEN1333 USP30 ubiquitin specific peptidase 30 12q24.11 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 Edit
GEN1051 VDR vitamin D receptor 12q13.11 Genetic association
12 10 Schmidt RJ , et al. 2015 Edit
GEN665 VIL1 Villin 1 2q35 Rare single gene variant
2
 19 4 De Rubeis S , et al. 2014 Edit
GEN1416 VPS54 VPS54subunit of GARP complex 2p15-p14 Rare single gene variant
2
 4 3 Cirnigliaro M et al. 2023 Edit
GEN572 WNT1 Wingless-type MMTV integration site family, member 1 12q13.12 Genetic association
2
 5 6 Martin PM , et al. 2013 Edit
GEN377 XPO1 exportin 1 2p15 Genetic association
2
 10 8 Liu X , et al. 2011 Edit
GEN1188 XRCC6 X-ray repair cross complementing 6 22q13.2 Rare single gene variant
2
 5 2 Sjaarda CP et al. 2020 Edit
GEN1377 ZBTB21 zinc finger and BTB domain containing 21 21q22.3 Rare single gene variant
3
 4 4 Iossifov I et al. 2014 Edit
GEN1159 ZMYND8 zinc finger MYND-type containing 8 20q13.12 Rare single gene variant
4
 20 8 Iossifov I et al. 2014 Edit
GEN602 ZNF385B Zinc finger protein 385B 2q31.2-q31.3 Genetic association
2
 8 3 Maestrini E , et al. 2009 Edit
GEN1285 ZNF638 zinc finger protein 638 2p13.2 Rare single gene variant
3
 8 4 Wilfert AB et al. 2021 Edit
GEN618 ZNF804A Zinc finger protein 804A 2q32.1 Genetic association
2
 24 16 Anitha A , et al. 2014 Edit

 

CNV Search Results

Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
12
Deletion-Duplication
 9
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 3
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 1
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 11
 
 
12
Deletion-Duplication
 18
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion
 11
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 2
 
 
12
Deletion
 4
 
 
12
Deletion-Duplication
 27
 
 
12
Deletion-Duplication
 12
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 36
 
 
12
Duplication
 5
 
 
12
Deletion
 1
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Deletion
 9
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 20
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 7
 
 
12
Duplication
 3
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 1
 
 
12
Duplication
 3
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 6
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 6
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 19
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Deletion
 7
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Duplication
 6
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 26
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 4
 
 
12
Deletion-Duplication
 31
 
 
12
Deletion
 1
 
 
20
Deletion-Duplication
 13
 
 
20
Duplication
 5
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 13
 
 
20
Deletion
 1
 
 
20
Deletion-Duplication
 43
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 22
 
 
20
Duplication
 4
 
 
20
Deletion-Duplication
 33
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Duplication
 3
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 18
 
 
20
Duplication
 1
 
 
20
Deletion
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 7
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 21
 
 
20
Duplication
 2
 
 
20
Deletion-Duplication
 2
 
 
20
Deletion-Duplication
 8
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 14
 
 
20
Deletion-Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 15
 
 
20
Duplication
 1
 
 
20
Duplication
 1
 
 
20
Deletion-Duplication
 33
 
 
21
Duplication
 3
 
 
21
Deletion
 2
 
 
21
Deletion
 1
 
 
21
Duplication
 11
 
 
21
Deletion
 1
 
 
21
Duplication
 2
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 16
 
 
21
Deletion-Duplication
 13
 
 
21
Deletion-Duplication
 1
 
 
21
Deletion
 1
 
 
21
Duplication
 4
 
 
21
Deletion
 2
 
 
21
Deletion-Duplication
 9
 
 
21
Deletion
 3
 
 
21
Deletion
 3
 
 
21
Deletion-Duplication
 8
 
 
21
Deletion
 5
 
 
21
Deletion-Duplication
 43
 
 
22
Deletion-Duplication
 1
 
 
22
Deletion-Duplication
 16
 
 
22
Duplication
 11
 
 
22
Duplication
 1
 
 
22
Duplication
 7
  construct
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 111
  construct
 
22
Deletion-Duplication
 14
 
 
22
Deletion
 7
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 26
 
 
22
Duplication
 13
 
 
22
Deletion-Duplication
 33
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 3
 
 
22
Duplication
 2
 
 
22
Deletion-Duplication
 7
 
 
22
Deletion-Duplication
 23
 
 
22
Deletion
 4
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 27
 
 
22
Duplication
 1
 
 
22
Duplication
 3
 
 
22
Deletion-Duplication
 16
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 12
 
 
22
Deletion
 2
 
 
22
Deletion-Duplication
 16
 
 
22
Deletion-Duplication
 33
 
 
22
Duplication
 26
 
 
22
Deletion-Duplication
 74
 
 
2
Deletion-Duplication
 27
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion-Duplication
 8
 
 
2
Deletion-Duplication
 10
 
 
2
Deletion
 8
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 3
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion-Duplication
 18
 
 
2
Deletion-Duplication
 2
 
 
2
Deletion-Duplication
 20
 
 
2
Deletion
 1
 
 
2
Deletion
 10
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion-Duplication
 81
 
 
2
Deletion-Duplication
 3
 
 
2
Deletion-Duplication
 28
 
 
2
Deletion
 5
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 37
 
 
2
Duplication
 1
 
 
2
Deletion
 7
 
 
2
N/A
 2
 
 
2
Deletion
 13
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 10
 
 
2
Deletion-Duplication
 8
 
 
2
Deletion-Duplication
 12
 
 
2
Deletion
 2
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 4
 
 
2
Deletion-Duplication
 4
 
 
2
Deletion-Duplication
 45
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Duplication
 3
 
 
2
Duplication
 4
 
 
2
Duplication
 8
 
 
2
Deletion
 3
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 24
 
 
2
Duplication
 1
 
 
2
Duplication
 4
 
 
2
Deletion-Duplication
 1
 
 
2
Deletion
 1
 
 
2
Deletion
 2
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 2
 
 
2
Deletion-Duplication
 46
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 15
 
 
2
Duplication
 2
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 14
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 18
 
 
2
Duplication
 1
 
 
2
Duplication
 14
 
 
2
Duplication
 2
 
 
2
Deletion
 8
 
 
2
Deletion
 2
 
 
2
Deletion
 2
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion
 5
 
 
2
Deletion-Duplication
 4
 
 
2
Duplication
 1
 
 
2
Duplication
 1
 
 
2
Deletion
 7
 
 
2
Duplication
 2
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 26
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 10
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 16
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 17
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion
 19
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 16
 
 
2
Deletion
 3
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion
 2
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 17
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 7
 
 
2
Deletion
 1
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 27
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 12
 
 
2
Duplication
 5
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 24
 
 
2
Deletion
 2
 
 
2
Deletion
 3
 
 
2
Deletion
 3
 
 
2
Deletion
 1
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 10
 
 
2
Deletion
 3
 
 
2
Deletion-Duplication
 25
 
 
2
Duplication
 3
 
 
2
Duplication
 1
 
 
2
Deletion-Duplication
 14
 
 
2
Deletion-Duplication
 1
 
 
2
Deletion
 2
 
 
2
Duplication
 2
 
 
2
Duplication
 1
 
 
2
Deletion
 5
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 22
 
 
2
Deletion
 1
 
 
2
Deletion-Duplication
 2
 
 
2
Deletion-Duplication
 20
 
 
2
Duplication
 1
 
 
2
Deletion
 10
 
 
2
Deletion-Duplication
 9
 
 
2
Deletion
 9
 
 
2
Deletion-Duplication
 59
 

 

Animal Model Search Results

Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Adnp
 Activity-dependent neuroprotective protein
 Mus musculus
 
 9
 16
 
 Adenosine A2a receptor
 Mus musculus
 Unknown
 2
 2
 
  Anks1b
 ankyrin repeat and sterile alpha motif domain containing 1B
 Mus musculus
 
 2
 8
 
  App
 amyloid beta (A4) precursor protein
 Mus musculus
 
 1
 1
 
  Avp
 arginine vasopressin
 Rattus norvegicus
 
 1
 6
 
  Avpr1a
 Arginine vasopressin receptor 1A
 Mus musculus
 Unknown
 3
 2
 
  Bcl11a
 B cell CLL/lymphoma 11A (zinc finger protein)
 Mus musculus
 2p16.1
 3
 4
 
 calcium channel, voltage-dependent, L type, alpha 1C subunit
 Danio rerio
 12p13.33
 1
 6
 
 calcium channel, voltage-dependent, L type, alpha 1C subunit
 Mus musculus
 Unknown
 8
 13
 
 calcium voltage-gated channel subunit alpha1 C
 Rattus norvegicus
 Unknown
 2
 1
 
  cep290
 centrosomal protein 290
 Danio rerio
 
 1
 2
 
  Clstn3
 calsyntenin 3
 Mus musculus
 
 1
 1
 
  Csnk1e
 casein kinase 1, epsilon
 Mus musculus
 
 1
 1
 
  Cul3
 cullin 3
 Mus musculus
 
 5
 17
 
  Dip2a
 disco interacting protein 2 homolog A
 Mus musculus
 
 1
 2
 
  Dnmt3a
 DNA methyltransferase 3A
 Mus musculus
 NA
 3
 4
 
  Dscam1
 Down syndrome cell adhesion molecule 1
 Drosophila melanogaster
 
 1
 1
 
  Dscam
 Down syndrome cell adhesion molecule
 Mus musculus
 
 6
 13
 
 dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, a
 Danio rerio
 
 1
 2
 
  mnb
 minibrain
 Drosophila melanogaster
 
 2
 10
 
  Dyrk1a
 dual specificity tyrosine-Y- phosphorylation regulated kinase 1a
 Mus musculus
 
 5
 10
 
  Eef1a2
 eukaryotic translation elongation factor 1 alpha 2
 Mus musculus
 
 1
 7
 
  Eps8
 epidermal growth factor receptor pathway substrate 8
 Mus musculus
 
 1
 1
 
  Erbb4
 v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
 Mus musculus
 Unknown
 3
 2
 
  Gad1
 glutamate decarboxylase 1
 Mus musculus
 
 1
 1
 
  Gyf
 Gigyf
 Drosophila melanogaster
 
 1
 2
 
  Nmdar2
 NMDA receptor 2
 Drosophila melanogaster
 
 1
 2
 
  Grin2b
 glutamate receptor, ionotropic, NMDA2B (epsilon 2)
 Mus musculus
 
 6
 11
 
  Grip1
 glutamate receptor interacting protein 1
 Mus musculus
 Unknown
 2
 3
 
  Hdac4
 Histone deacetylase 4
 Mus musculus
 Unknown
 1
 2
 
  Hmgn1
 High mobility group nucleosomal binding domain 1
 Mus musculus
 Unknown
 1
 2
 
  Ifng
 Interferon gamma
 Mus musculus
 
 1
 3
 
  Kcnq2
 potassium voltage-gated channel, subfamily Q, member 2
 Mus musculus
 Unknown
 1
 1
 
  Kdm2b
 lysine (K)-specific demethylase 2B
 Mus musculus
 
 1
 2
 
  Kdm5a
 lysine demethylase 5A
 Mus musculus
 NA
 1
 1
 
  Klf7
 Kruppel-like factor 7 (ubiquitous)
 Mus musculus
 
 2
 7
 
  Mapk1
 mitogen-activated protein kinase 1
 Mus musculus
 Unknown
 1
 1
 
 mitogen-activated protein kinase 8 interacting protein 2
 Mus musculus
 Yes
 1
 1
 
  myt1la
 myelin transcription factor 1-like, a
 Danio rerio
 
 1
 2
 
  Myt1l
 Myelin transcription factor 1-like protein
 Mus musculus
 Na
 3
 5
 
  Hem
 HEM-protein
 Drosophila melanogaster
 
 1
 2
 
  Npas2
 neuronal PAS domain protein 2
 Mus musculus
 Unknown
 3
 2
 
  Nrp2
 neuropilin 2
 Mus musculus
 Unknown
 2
 4
 
  Nrx-1
 Neurexin 1
 Drosophila melanogaster
 
 3
 60
 
  Nrxn1
 Neurexin 1
 Mus musculus
 Unknown
 3
 7
 
  Nrxn1
 neurexin 1
 Rattus norvegicus
 Unknown
 3
 2
 
  Nuak1
 NUAK family, SNF1-like kinase, 1
 Mus musculus
 Unknown
 1
 6
 
  Oxt
 oxytocin
 Mus musculus
 Chromosome 3p25
 2
 7
 
  P2rx4
 purinergic receptor P2X, ligand-gated ion channel 4
 Mus musculus
 
 1
 2
 
  baz
 bazooka
 Drosophila melanogaster
 
 1
 2
 
 prickle homolog 1 (Drosophila)
 Mus musculus
 
 2
 7
 
  Pvalb
 Parvalbumin
 Mus musculus
 
 1
 3
 
 Rap guanine nucleotide exchange factor (GEF) 4
 Mus musculus
 Unknown
 2
 2
 
  Scn1a
 sodium channel, voltage-gated, type I, alpha
 Mus musculus
 Unknown
 7
 19
 
  Scn1a
 sodium channel, voltage-gated, type I, alpha
 Rattus norvegicus
 Unknown
 1
 2
 
  para
 paralytic
 Drosophila melanogaster
 
 1
 2
 
  Scn2a
 sodium channel, voltage-gated, type II, alpha I
 Mus musculus
 Unknown
 6
 9
 
  Scn8a
 sodium channel, voltage-gated, type VIII, alpha
 Mus musculus
 Unknown
 1
 1
 
  Senp1
 SUMO1/sentrin specific peptidase 1
 Mus musculus
 
 2
 4
 
 SH3 and multiple ankyrin repeat domains 3b
 Danio rerio
 
 2
 5
 
  Shank3
 SH3/ankyrin domain gene 3
 Mus musculus
 Unknown
 40
 107
 
  Shank3
 SH3 and multiple ankyrin repeat domains 3
 Rattus norvegicus
 Unknown
 3
 4
 
 solute carrier family 25 (Mitochondrial carrier, Aralar), member 12
 Mus musculus
 Unknown
 2
 4
 
 Solute carrier family 30 (zinc transporter), member 3
 Mus musculus
 2p23.3
 1
 2
 
 solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
 Mus musculus
 Unknown
 1
 1
 
  Spast
 Spastin
 Mus musculus
 
 1
 1
 
  SPTBN1
 Spectrin beta, non-erythrocytic 1
 Mus musculus
 NA
 2
 4
 
  Srrm4
 serine/arginine repetitive matrix 4
 Mus musculus
 12q24.23
 1
 2
 
  Stat1
 Signal transducer and activator of transcription 1
 Mus musculus
 
 1
 2
 
  Stk39
 Seine/threonin kinase 39, STE20/SPS1 homolog (yeast)
 Mus musculus
 Unknown
 1
 1
 
  Syn3
 Syapsin III
 Mus musculus
 
 2
 2
 
  Tbr1
 T-box brain gene1
 Mus musculus
 
 10
 31
 
  org-1
 optomotor-blind-related-gene-1
 Drosophila melanogaster
 
 1
 7
 
  Tbx1
 T-box1
 Mus musculus
 Unknown
 2
 1
 
  Tcf20
 transcription factor 20
 Mus musculus
 22q13.2
 1
 5
 
 Topoisomerase 3beta
 Drosophila melanogaster
 
 1
 4
 
  Top3b
 Topoisomerase (DNA) III beta
 Mus musculus
 
 3
 3
 
  Tph2
 Tryptophan hydroxylase 2
 Mus musculus
 
 2
 3
 
  ctrip
 circadian trip
 Drosophila melanogaster
 
 1
 2
 
  Ube3b
 ubiquitin protein ligase E3B
 Mus musculus
 
 1
 1

 

PIN Search Results

Gene Symbol
Gene Name
Number of Interactions
ADA
adenosine deaminase
13
activity-dependent neuroprotector homeobox
51
adenosine A2a receptor
15
adenylosuccinate lyase
17
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
15
APP
amyloid beta (A4) precursor protein
79
arginine vasopressin receptor 1A
3
B-cell CLL/lymphoma 11A (zinc finger protein)
42
bridging integrator 1
10
baculoviral IAP repeat containing 6
22
calcium channel, voltage-dependent, L type, alpha 1C subunit
48
PB-cadherin
1
calsyntenin 3
6
clathrin, heavy chain-like 1
39
contactin associated protein-like 5
1
cullin 3
1281
density-regulated protein
32
DIP2 disco-interacting protein 2 homolog A (Drosophila)
31
distal-less homeobox 1
2
distal-less homeobox 2
20
dynamin 1-like
16
dipeptidyl-peptidase 10 (non-functional)
3
Down syndrome cell adhesion molecule
8
dual specificity phosphatase 15
2
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
55
E1A binding protein p300
16
E1A binding protein p400
56
enhancer of polycomb homolog 2 (Drosophila)
25
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
2
ERG
v-ets erythroblastosis virus E26 oncogene homolog (avian)
1
Ermin
3
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
3
Neuroendocrine secretory protein 55
20
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
14
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
77
glutamate receptor interacting protein 1
82
histone deacetylase 4
52
high mobility group nucleosome binding domain 1
35
Inositol polyphosphate 1-phosphatase
12
potassium voltage-gated channel, KQT-like subfamily, member 2
10
kinesin family member 5C
12
low density lipoprotein receptor-related protein 2
78
leucine-rich pentatricopeptide repeat containing
3
MACRO domain containing 2
4
Microtubule-associated protein 2
6
mitogen-activated protein kinase 1
7
mitogen-activated protein kinase 12
6
mitogen-activated protein kinase 8 interacting protein 2
6
methyl-CpG binding domain protein 5
20
mediator complex subunit 13-like
21
metaxin 2
10
NCK-associated protein 1
43
NCK-associated protein 5-like
4
ninein-like
43
nitric oxide synthase 1 (neuronal)
12
neuronal PAS domain protein 2
14
neuropilin 2
43
neurexin 1
76
OXT
oxytocin, prepropeptide
8
PAH
phenylalanine hydroxylase
4
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
1
prickle homolog 1 (Drosophila)
13
protein tyrosine phosphatase, non-receptor type 11
27
peroxidasin homolog (Drosophila)
21
Rap guanine nucleotide exchange factor (GEF) 4
17
SATB homeobox 2
51
SET binding factor 1
18
Sodium channel protein type 1 subunit alpha
3
sodium channel, voltage-gated, type II, alpha subunit
17
sodium channel, voltage gated, type VIII, alpha subunit
14
SH3 and multiple ankyrin repeat domains 3
183
Solute carrier family 12 member 5
7
solute carrier family 25 (aspartate/glutamate carrier), member 12
11
solute carrier family 4, sodium bicarbonate transporter, member 10
3
Synaptosomal-associated protein 25
15
syntrophin, gamma 2
18
superoxide dismutase 1, soluble
8
SRY (sex determining region Y)-box 5
34
serine/arginine repetitive matrix 4
34
serine threonine kinase 39
13
synapsin III
2
T-box, brain, 1
82
trinucleotide repeat containing 6B
35
topoisomerase (DNA) I
159
topoisomerase (DNA) III beta
1986
thyroid hormone receptor interactor 12
30
TSN
translin
4
thyroid hormone receptor interactor 12
4
exportin 1 (CRM1 homolog, yeast)
6
HELP
Copyright © 2017 MindSpec, Inc.