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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
GEN889 AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 12q14.1 Rare single gene variant
14 4 De Rubeis S , et al. 2014 Edit
GEN673 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
21 3 Li J , et al. 2015 Edit
GEN1089 ARID2 AT-rich interaction domain 2 12q12 Rare single gene variant
16 6 Iossifov I , et al. 2014 Edit
GEN941 ATP6V0A2 ATPase H+ transporting V0 subunit a2 12q24.31 Rare single gene variant
21 3 Krumm N , et al. 2015 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
35 22 Yirmiya N , et al. 2006 Edit
GEN040 BICDL1 BICD family like cargo adaptor 1 12q24.23 Genetic Association
2 2 Wang K , et al. 2009 Edit
GEN544 C12orf57 Chromosome 12 open reading frame 57 12p13.31 Syndromic
37 11 Akizu N , et al. 2013 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
41 45 Splawski I , et al. 2004 Edit
GEN799 CCDC91 coiled-coil domain containing 91 12p11.22 Rare single gene variant
3 4 Shen Y , et al. 2010 Edit
GEN532 CDKN1B cyclin dependent kinase inhibitor 1B 12p13.1 Multigenic CNV/rare single gene variant
Yes 2 1 Grey W , et al. 2013 Edit
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
17 8 Coppieters F , et al. 2010 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
2 3 Pettem KL , et al. 2013 Edit
GEN1011 CUX2 cut like homeobox 2 12q24.11-q24.12 Rare single gene variant
11 8 De Rubeis S , et al. 2014 Edit
GEN062 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 12p11.21 Functional
0 3 Hu VW , et al. 2006 Edit
GEN825 DENR density-regulated protein 12q24.31 Rare single gene variant
3 3 Neale BM , et al. 2012 Edit
GEN703 DNAH10 Dynein, axonemal, heavy chain 10 12q24.31 Rare single gene variant
86 6 Iossifov I , et al. 2012 Edit
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
5 6 Anitha A , et al. 2012 Edit
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
Yes 52 6 Chahrour MH , et al. 2012 Edit
GEN574 EPS8 epidermal growth factor receptor pathway substrate 8 12p12.3 Functional
0 1 Menna E , et al. 2013 Edit
GEN1042 GALNT8 polypeptide N-acetylgalactosaminyltransferase 8 12p13.32 Rare single gene variant
9 2 Kushima I , et al. 2018 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
164 53 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
12 13 Mejias R , et al. 2011 Edit
GEN900 HECTD4 HECT domain E3 ubiquitin protein ligase 4 12q24.13 Rare single gene variant
7 4 De Rubeis S , et al. 2014 Edit
GEN840 IFNG interferon gamma 12q15 Functional
0 13 Singh VK 1996 Edit
GEN138 ITGB7 integrin, beta 7 12q13.13 Functional
1 4 Hu VW , et al. 2006 Edit
GEN779 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 12q21.2 Genetic association
3 2 Kuo PH , et al. 2015 Edit
GEN1088 LRP1 LDL receptor related protein 1 12q13.3 Rare single gene variant
25 4 De Rubeis S , et al. 2014 Edit
GEN437 MBD6 Methyl-CpG binding domain protein 6 12q13.3 Rare single gene variant
11 1 Cukier HN , et al. 2012 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
92 32 Iossifov I , et al. 2012 Edit
GEN165 MYO1A myosin IA 12q13.3 Rare Single Gene variant
15 8 O'Roak BJ , et al. 2011 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
Yes 7 2 Chahrour MH , et al. 2012 Edit
GEN694 NOS1 nitric oxide synthase 1 12q24.22 Rare single gene variant
2 2 Li J , et al. 2015 Edit
GEN756 NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Rare single gene variant
4 6 Iossifov I , et al. 2012 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
Yes 12 7 Yu TW , et al. 2013 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
8 4 Paemka L , et al. 2013 Edit
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
30 16 Tartaglia M , et al. 2001 Edit
GEN605 PTPRB protein tyrosine phosphatase, receptor type B 12q15 Genetic association
2 3 Wittkowski KM , et al. 2014 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
146 34 Veeramah KR , et al. 2012 Edit
GEN994 SETD1B SET domain containing 1B 12q24.31 Syndromic
7 9 Iossifov I , et al. 2014 Edit
GEN462 SLC16A7 Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 12q14.1 Rare single gene variant
2 2 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN704 SLCO1B3 Solute carrier organic anion transporter family, member 1B3 12p12.2 Rare single gene variant
17 4 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
22 11 Neale BM , et al. 2012 Edit
GEN366 SOX5 SRY-box 5 12p12.1 Rare single gene variant
60 14 Rosenfeld JA , et al. 2010 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
1 5 Irimia M , et al. 2014 Edit
GEN778 STYK1 Serine/threonine/tyrosine kinase 1 12p13.2 Genetic association
4 2 Kuo PH , et al. 2015 Edit
GEN1034 SYT1 synaptotagmin 1 12q21.2 Rare single gene variant
12 2 De Rubeis S , et al. 2014 Edit
GEN995 TAFA2 TAFA chemokine like family member 2 12q14.1 Functional/multigenic CNV
4 1 Choi JH , et al. 2018 Edit
GEN254 TPH2 tryptophan hydroxylase 2 12q21.1 Genetic Association
10 13 Coon H , et al. 2005 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
Yes 17 7 Chahrour MH , et al. 2012 Edit
GEN903 USP15 ubiquitin specific peptidase 15 12q14.1 Rare single gene variant
3 3 O'Roak BJ , et al. 2012 Edit
GEN1051 VDR vitamin D receptor 12q13.11 Genetic association
8 7 Schmidt RJ , et al. 2015 Edit
GEN572 WNT1 Wingless-type MMTV integration site family, member 1 12q13.12 Genetic association
2 3 Martin PM , et al. 2013 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
12
Deletion-Duplication
 9
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion
 1
 
 
12
Deletion
 8
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 1
 
 
12
Deletion
 3
 
 
12
Deletion-Duplication
 27
 
 
12
Deletion-Duplication
 11
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 32
 
 
12
Duplication
 3
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 20
 
 
12
Deletion
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 6
 
 
12
Duplication
 3
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 3
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 6
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 18
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Deletion
 6
 
 
12
Deletion-Duplication
 7
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Duplication
 5
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 25
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 2
 
 
12
Duplication
 4
 
 
12
Deletion-Duplication
 29
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Anks1b
 ankyrin repeat and sterile alpha motif domain containing 1B 
 Mus musculus
 
 1
 2
 
  Avpr1a
 Arginine vasopressin receptor 1A
 Mus musculus
 Unknown
 3
 2
 
 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
 
  Eps8
 epidermal growth factor receptor pathway substrate 8
 Mus musculus
 
 1
 1
 
  Nmdar2
 NMDA receptor 2
 Drosophila melanogaster
 
 1
 2
 
  Grin2b
 glutamate receptor, ionotropic, NMDA2B (epsilon 2)
 Mus musculus
 
 5
 10
 
  Grip1
 glutamate receptor interacting protein 1
 Mus musculus
 Unknown
 2
 3
 
  Ifng
 Interferon gamma
 Mus musculus
 
 1
 3
 
  Nuak1
 NUAK family, SNF1-like kinase, 1 
 Mus musculus
 Unknown
 1
 6
 
  P2rx4
 purinergic receptor P2X, ligand-gated ion channel 4
 Mus musculus
 
 1
 2
 
 prickle homolog 1 (Drosophila)
 Mus musculus
 
 1
 5
 
  Scn8a
 sodium channel, voltage-gated, type VIII, alpha
 Mus musculus
 Unknown
 1
 1
 
  Srrm4
 serine/arginine repetitive matrix 4
 Mus musculus
 12q24.23
 1
 2
 
  Tph2
 Tryptophan hydroxylase 2
 Mus musculus
 
 2
 3
 
  Ube3b
 ubiquitin protein ligase E3B
 Mus musculus
 
 1
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
arginine vasopressin receptor 1A
3
calcium channel, voltage-dependent, L type, alpha 1C subunit
48
calsyntenin 3
6
density-regulated protein
32
dynamin 1-like
16
E1A binding protein p400
56
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
77
glutamate receptor interacting protein 1
82
mediator complex subunit 13-like
21
NCK-associated protein 5-like
4
nitric oxide synthase 1 (neuronal)
12
PAH
phenylalanine hydroxylase
4
prickle homolog 1 (Drosophila)
13
protein tyrosine phosphatase, non-receptor type 11
27
sodium channel, voltage gated, type VIII, alpha subunit
14
SRY (sex determining region Y)-box 5
34
serine/arginine repetitive matrix 4
34
thyroid hormone receptor interactor 12
4
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