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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
N
11 3 De Rubeis S , et al. 2014 Edit
GEN673 ANKS1B Ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
N
3 1 Li J , et al. 2015 Edit
GEN941 ATP6V0A2 ATPase H+ transporting V0 subunit a2 12q24.31 Rare single gene variant
N
20 2 Krumm N , et al. 2015 Edit
GEN023 AVPR1A arginine vasopressin receptor 1A 12q14.2 Rare Single Gene variant, Genetic Association
N
34 21 Yirmiya N , et al. 2006 Edit
GEN040 BICDL1 BICD family like cargo adaptor 1 12q24.23 Genetic Association
N
2 2 Wang K , et al. 2009 Edit
GEN544 C12orf57 Chromosome 12 open reading frame 57 12p13.31 Syndromic
N
32 10 Akizu N , et al. 2013 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
N
39 39 Splawski I , et al. 2004 Edit
GEN799 CCDC91 coiled-coil domain containing 91 12p11.22 Rare single gene variant
N
2 3 Shen Y , et al. 2010 Edit
GEN532 CDKN1B cyclin dependent kinase inhibitor 1B 12p13.1 Multigenic CNV/rare single gene variant
N
Yes 2 1 Grey W , et al. 2013 Edit
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
N
10 6 Coppieters F , et al. 2010 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
N
1 2 Pettem KL , et al. 2013 Edit
GEN1011 CUX2 cut like homeobox 2 12q24.11-q24.12 Rare single gene variant
N
11 7 De Rubeis S , et al. 2014 Edit
GEN062 DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 12p11.21 Functional
N
0 3 Hu VW , et al. 2006 Edit
GEN825 DENR density-regulated protein 12q24.31 Rare single gene variant
N
2 2 Neale BM , et al. 2012 Edit
GEN703 DNAH10 Dynein, axonemal, heavy chain 10 12q24.31 Rare single gene variant
N
81 5 Iossifov I , et al. 2012 Edit
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
N
2 3 Anitha A , et al. 2012 Edit
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
N
Yes 46 6 Chahrour MH , et al. 2012 Edit
GEN574 EPS8 epidermal growth factor receptor pathway substrate 8 12p12.3 Functional
N
0 1 Menna E , et al. 2013 Edit
GEN995 FAM19A2 family with sequence similarity 19 member A2, C-C motif chemokine like 12q14.1 Functional/multigenic CNV
N
4 1 Choi JH , et al. 2018 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
N
156 45 O'Roak BJ , et al. 2011 Edit
GEN112 GRIP1 glutamate receptor interacting protein 1 12q14.3 Rare Single Gene variant, Genetic Association
N
11 12 Mejias R , et al. 2011 Edit
GEN900 HECTD4 HECT domain E3 ubiquitin protein ligase 4 12q24.13 Rare single gene variant
N
6 3 De Rubeis S , et al. 2014 Edit
GEN840 IFNG interferon gamma 12q15 Functional
N
0 13 Singh VK 1996 Edit
GEN138 ITGB7 integrin, beta 7 12q13.13 Functional
N
1 4 Hu VW , et al. 2006 Edit
GEN779 KRR1 KRR1, small subunit (SSU) processome component, homolog (yeast) 12q21.2 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN437 MBD6 Methyl-CpG binding domain protein 6 12q13.3 Rare single gene variant
N
11 1 Cukier HN , et al. 2012 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
N
74 22 Iossifov I , et al. 2012 Edit
GEN165 MYO1A myosin IA 12q13.3 Rare Single Gene variant
N
12 7 O'Roak BJ , et al. 2011 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
N
Yes 6 2 Chahrour MH , et al. 2012 Edit
GEN694 NOS1 Nitric oxide synthase 1 (neuronal) 12q24.22 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN756 NUAK1 NUAK family, SNF1-like kinase, 1 12q23.3 Rare single gene variant
N
4 5 Iossifov I , et al. 2012 Edit
GEN629 P2RX4 Purinergic receptor P2X, ligand-gated ion channel, 4 12q24.31 Functional
N
0 1 Wyatt LR , et al. 2013 Edit
GEN527 PAH Phenylalanine hydroxylase 12q23.2 Rare single gene variant
N
Yes 3 2 Yu TW , et al. 2013 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
N
8 4 Paemka L , et al. 2013 Edit
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
N
27 12 Tartaglia M , et al. 2001 Edit
GEN605 PTPRB protein tyrosine phosphatase, receptor type B 12q15 Genetic association
N
2 3 Wittkowski KM , et al. 2014 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
N
71 26 Veeramah KR , et al. 2012 Edit
GEN994 SETD1B SET domain containing 1B 12q24.31 Syndromic
N
4 6 Iossifov I , et al. 2014 Edit
GEN462 SLC16A7 Solute carrier family 16, member 7 (monocarboxylic acid transporter 2) 12q14.1 Rare single gene variant
N
1 1 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN704 SLCO1B3 Solute carrier organic anion transporter family, member 1B3 12p12.2 Rare single gene variant
N
13 2 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
N
7 9 Neale BM , et al. 2012 Edit
GEN366 SOX5 SRY-box 5 12p12.1 Rare single gene variant
N
23 13 Rosenfeld JA , et al. 2010 Edit
GEN671 SRRM4 Serine/arginine repetitive matrix 4 12q24.23 Functional
N
1 5 Irimia M , et al. 2014 Edit
GEN778 STYK1 Serine/threonine/tyrosine kinase 1 12p13.2 Genetic association
N
2 1 Kuo PH , et al. 2015 Edit
GEN254 TPH2 tryptophan hydroxylase 2 12q21.1 Genetic Association
N
10 12 Coon H , et al. 2005 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
N
Yes 15 6 Chahrour MH , et al. 2012 Edit
GEN903 USP15 ubiquitin specific peptidase 15 12q14.1 Rare single gene variant
N
3 3 O'Roak BJ , et al. 2012 Edit
GEN572 WNT1 Wingless-type MMTV integration site family, member 1 12q13.12 Genetic association
N
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
 7
 
 
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
 15
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 14
 
 
12
Deletion
 1
 
 
12
Deletion
 3
 
 
12
Deletion-Duplication
 26
 
 
12
Deletion-Duplication
 30
 
 
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
 6
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 6
 
 
12
Duplication
 3
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 2
 
 
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
 7
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Duplication
 2
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
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
 24
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 2
 
 
12
Duplication
 4
 
 
12
Deletion-Duplication
 28
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  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
 15
 
 calcium voltage-gated channel subunit alpha1 C
 Rattus norvegicus
 Unknown
 1
 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
 
  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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