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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
GEN1379 ABCE1 ATP binding cassette subfamily E member 1 4q31.21 Rare single gene variant
2
3 3 Satterstrom FK et al. 2020 Edit
GEN587 ANK2 Ankyrin 2, neuronal 4q25-q26 Rare Single Gene variant
5
199 34 Iossifov I , et al. 2012 Edit
GEN1250 ANKRD17 ankyrin repeat domain 17 4q13.3 Rare single gene variant
4
41 6 De Rubeis S , et al. 2014 Edit
GEN424 ARHGAP24 Rho GTPase activating protein 24 4q21.23-q21.3 Rare single gene variant
2
2 2 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN1268 BMPR1B bone morphogenetic protein receptor type 1B 4q22.3 Rare single gene variant
2
6 3 Wilfert AB et al. 2021 Edit
GEN902 BST1 bone marrow stromal cell antigen 1 4p15.32 Multigenic CNV
0
5 6 Yokoyama S , et al. 2015 Edit
GEN1435 CAMK2D calcium/calmodulin dependent protein kinase II delta 4q26 Rare single gene variant
3
8 2 et al. Edit
GEN1097 CCSER1 coiled-coil serine rich protein 1 4q22.1 Rare single gene variant
2
5 4 De Rubeis S , et al. 2014 Edit
GEN328 CD38 CD38 molecule 4p15.32 Genetic Association
2
13 10 Munesue T , et al. 2010 Edit
GEN958 CEP135 centrosomal protein 135 4q12 Syndromic
3
30 7 De Rubeis S , et al. 2014 Edit
GEN1259 CLCN3 chloride voltage-gated channel 3 4q33 Rare single gene variant
3
Yes 15 5 Engeland CE et al. 2020 Edit
GEN1121 CPZ carboxypeptidase Z 4p16.1 Rare single gene variant
2
12 5 De Rubeis S , et al. 2014 Edit
GEN494 DAPP1 Dual adaptor of phosphotyrosine and 3-phosphoinositides 4q23 Rare single gene variant
2
4 3 Prasad A , et al. 2013 Edit
GEN077 EIF4E eukaryotic translation initiation factor 4E 4q23 Rare single gene variant
2
9 13 Neves-Pereira M , et al. 2009 Edit
GEN338 FAT1 FAT atypical cadherin 1 4q35.2 Rare Single Gene variant
3
25 13 Neale BM , et al. 2012 Edit
GEN585 FGA Fibrinogen alpha chain 4q31.3 Genetic association
0
7 5 Ro M , et al. 2013 Edit
GEN1234 FRG1 FSHD region gene 1 4q35.2 Rare single gene variant
2
3 2 Alonso-Gonzalez A et al. 2021 Edit
GEN1440 FRYL FRY like transcription coactivator 4p11 Rare single gene variant
4
27 8 et al. Edit
GEN1361 G3BP2 G3BP stress granule assembly factor 2 4q21.1 Rare single gene variant
3
8 6 Iossifov I et al. 2014 Edit
GEN099 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 4p12 Genetic Association
2
11 9 Ma DQ , et al. 2005 Edit
GEN100 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 4p12 Genetic Association
2
9 9 Ma DQ , et al. 2005 Edit
GEN1093 GRIA2 glutamate ionotropic receptor AMPA type subunit 2 4q32.1 Rare single gene variant
4
43 12 De Rubeis S , et al. 2014 Edit
GEN283 GRID2 glutamate receptor, ionotropic, delta 2 4q22.1-q22.2 Rare Single Gene variant
2
25 11 Schaaf CP , et al. 2011 Edit
GEN1324 GRK4 G protein-coupled receptor kinase 4 4p16.3 Rare single gene variant
3
5 6 Iossifov I et al. 2014 Edit
GEN1245 HNRNPD heterogeneous nuclear ribonucleoprotein D 4q21.22 Rare single gene variant
4
15 5 Iossifov I et al. 2014 Edit
GEN790 JAKMIP1 Janus kinase and microtubule interacting protein 1 4p16.1 Functional
2
9 10 Berg JM , et al. 2015 Edit
GEN1156 KIAA0232 KIAA0232 4p16.1 Rare single gene variant
3
5 4 Iossifov I et al. 2014 Edit
GEN522 KIT KIT proto-oncogene receptor tyrosine kinase 4q12 Syndromic
0
2 2 Kilsby AJ , et al. 2013 Edit
GEN802 LRBA LPS-responsive vesicle trafficking, beach and anchor containing 4q31.3 Rare single gene variant
3
21 9 Gai X , et al. 2011 Edit
GEN690 LRP2BP LRP2 binding protein 4q35.1 Rare single gene variant
2
2 2 Li J , et al. 2015 Edit
GEN662 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4q31.1 Rare single gene variant
4
97 24 De Rubeis S , et al. 2014 Edit
GEN1329 NPFFR2 neuropeptide FF receptor 2 4q13.3 Rare single gene variant
3
9 7 Iossifov I et al. 2014 Edit
GEN663 NR3C2 Nuclear receptor subfamily 3, group C, member 2 4q31.23 Rare single gene variant
3
22 12 De Rubeis S , et al. 2014 Edit
GEN1229 NSD2 nuclear receptor binding SET domain protein 2 4p16.3 Rare single gene variant
4
37 13 Wang T et al. 2020 Edit
GEN189 PCDH10 protocadherin 10 4q28.3 Rare Single Gene variant
2
7 11 Morrow EM , et al. 2008 Edit
GEN1251 PPP3CA protein phosphatase 3 catalytic subunit alpha 4q24 Syndromic
3
29 13 Myers CT et al. 2017 Edit
GEN222 SCFD2 sec1 family domain containing 2 4q12 Rare Single Gene variant
0
6 4 Pinto D , et al. 2010 Edit
GEN1315 SH3RF1 SH3 domain containing ring finger 1 4q32.3-q33 Rare single gene variant
3
21 5 Satterstrom FK et al. 2020 Edit
GEN793 SPARCL1 SPARC like 1 4q22.1 Functional
2
15 5 De Rubeis S , et al. 2014 Edit
GEN1141 TBCK TBC1 domain containing kinase 4q24 Syndromic
2
19 5 Bhoj EJ , et al. 2016 Edit
GEN249 TDO2 tryptophan 2,3-dioxygenase 4q32.1 Genetic Association
5 4 Nabi R , et al. 2004 Edit
GEN728 TET2 Tet methylcytosine dioxygenase 2 4q24 Rare single gene variant
3
9 7 Iossifov I et al. 2014 Edit
GEN295 TNIP2 TNFAIP3 interacting protein 2 4p16.3 Rare Single Gene variant
2
3 2 Salyakina D , et al. 2011 Edit
GEN546 UBA6 Ubiquitin-like modifier activating enzyme 6 4q13.2 Functional
2
6 5 Lee PC , et al. 2013 Edit
GEN635 WDFY3 WD repeat and FYVE domain containing 3 4q21.23 Rare Single Gene variant
5
75 24 Iossifov I , et al. 2012 Edit
GEN398 ZNF827 Zinc finger protein 827 4q31.21-q31.22 Genetic association
2
4 3 Anney R , et al. 2012 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
4
Duplication
 2
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 3
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 12
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 18
 
 
4
Deletion-Duplication
 18
 
 
4
Duplication
 4
 
 
4
Deletion-Duplication
 10
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 9
 
 
4
Duplication
 1
 
 
4
Deletion
 2
 
 
4
Deletion
 7
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 10
 
 
4
Deletion
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 26
 
 
4
Deletion
 1
 
 
4
Deletion
 9
 
 
4
Deletion
 3
 
 
4
Deletion-Duplication
 39
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion
 3
 
 
4
Deletion
 1
 
 
4
Duplication
 16
 
 
4
Duplication
 6
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 24
 
 
4
Duplication
 3
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 14
 
 
4
Duplication
 4
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 30
 
 
4
Deletion-Duplication
 3
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 23
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 10
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 10
 
 
4
Deletion
 2
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 3
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 5
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 5
 
 
4
Deletion-Duplication
 25
 
 
4
Duplication
 4
 
 
4
Deletion-Duplication
 15
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 2
 
 
4
Deletion-Duplication
 12
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 18
 
 
4
Duplication
 8
 
 
4
Deletion-Duplication
 12
 
 
4
Duplication
 4
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 9
 
 
4
Deletion
 2
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 11
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 6
 
 
4
Duplication
 2
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 19
 
 
4
Deletion
 2
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 9
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 5
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 9
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 15
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 17
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 6
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Duplication
 3
 
 
4
Deletion-Duplication
 20
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion
 4
 
 
4
Deletion
 3
 
 
4
Deletion-Duplication
 10
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion-Duplication
 3
 
 
4
Duplication
 7
 
 
4
Deletion
 3
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 7
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 48
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Gria2
 Glutamate receptor, ionotropic, AMPA 2
 Mus musculus
 Unknown
 1
 1
 
  Grid2
 glutamate receptor, ionotropic, delta 2
 Mus musculus
 
 1
 2
 
  Eif4e
 Eukaryotic translation initiation factor 4E
 Mus musculus
 4q23
 2
 5
 
  Nr3c2
 nuclear receptor subfamily 3, group C, member 2
 Mus musculus
 Unknown
 2
 2
 
  bchs
 blue cheese
 Drosophila melanogaster
 
 2
 4
 
  Wdfy3
 WD repeat and FYVE domain containing 3
 Mus musculus
 Unknown
 1
 4
 
  Uba6
 ubiquitin-like modifier activating enzyme 6
 Mus musculus
 
 1
 1
 
  Gabrb1
 gamma-aminobutyric acid type A receptor subunit beta 1
 Mus musculus
 
 1
 3
 
  Ank2
 ankyrin 2, brain
 Mus musculus
 
 4
 15
 
  Pcdh10
 protocadherin 10
 Mus musculus
 Unknown
 2
 3
 
  Cd38
 CD38 antigen
 Mus musculus
 Unknown
 3
 2
 
  NAT1
 NAT1
 Drosophila melanogaster
 
 1
 2
 
  Tet2
 Tet methylcytosine dioxygenase 2
 Mus musculus
 
 1
 6
 
 janus kinase and microtubule interacting protein 1
 Mus musculus
 syntenic with part of mouse chromosome 5,
 1
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
ankyrin 2, neuronal
36
eukaryotic translation initiation factor 4E
44
FAT tumor suppressor homolog 1 (Drosophila)
79
Gamma-aminobutyric acid receptor subunit alpha-4
8
gamma-aminobutyric acid (GABA) A receptor, beta 1
6
glutamate receptor, ionotropic, delta 2
17
Janus kinase and microtubule-interacting protein 1
43
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
14
protocadherin 10
10
SPARC-like 1 (hevin)
5
tryptophan 2,3-dioxygenase
23
WD repeat and FYVE domain containing 3
37
zinc finger protein 827
1
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