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Gene
CNV
Animal Models
PIN
Human Gene Search Results
Download Human Gene
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
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
4
4p11
Duplication
2
4
4p11-q11
Duplication
1
4
4p12
Deletion-Duplication
7
4
4p12-p11
Duplication
3
4
4p12-q12
Duplication
1
4
4p13
Deletion-Duplication
12
4
4p13-p11
Duplication
1
4
4p13-p12
Duplication
1
4
4p13-q13.1
Duplication
1
4
4p14
Deletion-Duplication
18
4
4p15.1
Deletion-Duplication
18
4
4p15.1-p14
Duplication
4
4
4p15.2
Deletion-Duplication
10
4
4p15.2-p15.1
Duplication
1
4
4p15.31
Deletion-Duplication
9
4
4p15.31-p15.1
Duplication
1
4
4p15.31-p15.2
Deletion
2
4
4p15.32
Deletion
7
4
4p15.32-p15.2
Deletion
1
4
4p15.32-p15.31
Deletion
1
4
4p15.33
Deletion
10
4
4p15.33-p15.31
Deletion
1
4
4p15.33-p15.32
Duplication
2
4
4p16.1
Deletion-Duplication
26
4
4p16.1-p15.33
Deletion
1
4
4p16.2
Deletion
9
4
4p16.2-p16.1
Deletion
3
4
4p16.3
Deletion-Duplication
39
4
4p16.3-p14
Duplication
1
4
4p16.3-p15.1
Duplication
2
4
4p16.3-p15.2
Deletion-Duplication
2
4
4p16.3-p15.3
Duplication
1
4
4p16.3-p15.31
Duplication
2
4
4p16.3-p15.32
Deletion
3
4
4p16.3-p15.33
Deletion
1
4
4p16.3-p16.1
Duplication
16
4
4p16.3-p16.2
Duplication
6
4
4p16.34-p15.33
Deletion
1
4
4q11-q13.1
Duplication
1
4
4q11-q13.2
Duplication
1
4
4q11-q22.3
Duplication
1
4
4q12
Deletion-Duplication
24
4
4q12-q13.1
Duplication
3
4
4q12-q21.1
Deletion
1
4
4q13.1
Deletion-Duplication
14
4
4q13.1-q13.2
Duplication
4
4
4q13.1-q13.3
Deletion
1
4
4q13.1-q21.1
Deletion
1
4
4q13.1-q21.21
Deletion
1
4
4q13.2
Deletion-Duplication
30
4
4q13.2-q13.3
Deletion-Duplication
3
4
4q13.2-q21.23
Deletion
1
4
4q13.3
Deletion-Duplication
23
4
4q13.3-q21.1
Duplication
1
4
4q13.3-q21.21
Duplication
1
4
4q13.3-q21.22
Deletion
1
4
4q13.3-q22.1
Deletion
1
4
4q13.3-q22.3
Deletion
1
4
4q21.1
Deletion-Duplication
10
4
4q21.1-q21.22
Deletion
1
4
4q21.1-q21.23
Deletion
1
4
4q21.21
Deletion-Duplication
10
4
4q21.21-q21.22
Deletion
2
4
4q21.21-q21.23
Deletion
1
4
4q21.21-q22.1
Deletion
1
4
4q21.22
Deletion
3
4
4q21.22-q21.23
Deletion
1
4
4q21.22-q21.3
Deletion
1
4
4q21.23
Deletion
5
4
4q21.23-q22.1
Deletion
1
4
4q21.23-q24
Deletion
1
4
4q21.3
Deletion
5
4
4q22.1
Deletion-Duplication
25
4
4q22.1-q22.2
Duplication
4
4
4q22.2
Deletion-Duplication
15
4
4q22.2-q32.3
Duplication
1
4
4q22.3
Deletion-Duplication
13
4
4q22.3-q23
Deletion-Duplication
2
4
4q22.3-q28.3
Duplication
1
4
4q23
Deletion-Duplication
12
4
4q23-q24
Deletion-Duplication
2
4
4q24
Deletion-Duplication
12
4
4q24-q25
Duplication
2
4
4q25
Deletion-Duplication
18
4
4q25-q26
Duplication
8
4
4q26
Deletion-Duplication
12
4
4q26-q27
Duplication
4
4
4q26-q31.22
Deletion
1
4
4q26-q35.2
Duplication
1
4
4q27
Deletion
9
4
4q27-q28.1
Deletion
2
4
4q27-q35.2
Duplication
1
4
4q28.1
Deletion-Duplication
11
4
4q28.1-q28.2
Duplication
2
4
4q28.2
Deletion-Duplication
6
4
4q28.2-q28.3
Duplication
2
4
4q28.2-q31.21
Deletion
1
4
4q28.3
Deletion-Duplication
19
4
4q28.3-q31.21
Deletion
2
4
4q31.1
Deletion-Duplication
7
4
4q31.1-q31.21
Duplication
1
4
4q31.21
Deletion-Duplication
9
4
4q31.21-q31.22
Deletion
1
4
4q31.21-q31.3
Duplication
1
4
4q31.21-q33
Duplication
1
4
4q31.22
Deletion-Duplication
5
4
4q31.22-q31.3
Deletion
1
4
4q31.23
Deletion-Duplication
9
4
4q31.23-q34.1
Duplication
1
4
4q31.23-q35.2
Duplication
2
4
4q31.3
Deletion-Duplication
15
4
4q31.3-q32.1
Deletion
1
4
4q31.3-q33
Deletion
1
4
4q32-q34
Deletion
1
4
4q32.1
Deletion-Duplication
17
4
4q32.1-q32.2
Duplication
1
4
4q32.1-q35.2
Deletion
1
4
4q32.2
Deletion-Duplication
6
4
4q32.2-q32.3
Duplication
1
4
4q32.2-q34.1
Deletion
1
4
4q32.2-q35.2
Duplication
3
4
4q32.3
Deletion-Duplication
20
4
4q32.3-q34.1
Deletion
1
4
4q32.3-q35.2
Deletion-Duplication
1
4
4q33
Deletion
4
4
4q33-q34.1
Deletion
3
4
4q34.1
Deletion-Duplication
10
4
4q34.1-q34.2
Deletion
1
4
4q34.1-q34.3
Deletion-Duplication
1
4
4q34.1-q35.1
Deletion-Duplication
3
4
4q34.1-q35.2
Duplication
7
4
4q34.2
Deletion
3
4
4q34.2-q34.3
Deletion
1
4
4q34.2-q35.1
Duplication
1
4
4q34.2-q35.2
Deletion
1
4
4q34.3
Deletion-Duplication
7
4
4q34.3-q35.1
Duplication
1
4
4q34.3-q35.2
Deletion-Duplication
1
4
4q35.1
Deletion-Duplication
13
4
4q35.1-q35.2
Deletion-Duplication
12
4
4q35.2
Deletion-Duplication
48
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Gria2
Glutamate receptor, ionotropic, AMPA 2
Mus musculus
Unknown
Chung HJ , et al. 2003
1
1
Grid2
glutamate receptor, ionotropic, delta 2
Mus musculus
Hills LB , et al. 2013
1
2
Eif4e
Eukaryotic translation initiation factor 4E
Mus musculus
4q23
Santini E , et al. 2012
2
5
Nr3c2
nuclear receptor subfamily 3, group C, member 2
Mus musculus
Unknown
Berger S , et al. 2005
2
2
bchs
blue cheese
Drosophila melanogaster
Stessman HA , et al. 2017
2
4
Wdfy3
WD repeat and FYVE domain containing 3
Mus musculus
Unknown
Orosco LA , et al. 2014
1
4
Uba6
ubiquitin-like modifier activating enzyme 6
Mus musculus
Lee PC , et al. 2013
1
1
Gabrb1
gamma-aminobutyric acid type A receptor subunit beta 1
Mus musculus
Wang J et al. 2023
1
3
Ank2
ankyrin 2, brain
Mus musculus
Scotland P , et al. 1998
4
15
Pcdh10
protocadherin 10
Mus musculus
Unknown
Uemura M , et al. 2007
2
3
Cd38
CD38 antigen
Mus musculus
Unknown
Jin D , et al. 2007
3
2
NAT1
NAT1
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Tet2
Tet methylcytosine dioxygenase 2
Mus musculus
Xu X et al. 2023
1
6
Jakmip1
janus kinase and microtubule interacting protein 1
Mus musculus
syntenic with part of mouse chromosome 5,
et al.
1
1
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ANK2
ankyrin 2, neuronal
36
EIF4E
eukaryotic translation initiation factor 4E
44
FAT1
FAT tumor suppressor homolog 1 (Drosophila)
79
GABRA4
Gamma-aminobutyric acid receptor subunit alpha-4
8
GABRB1
gamma-aminobutyric acid (GABA) A receptor, beta 1
6
GRID2
glutamate receptor, ionotropic, delta 2
17
Jakmip1
Janus kinase and microtubule-interacting protein 1
43
NAA15
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
14
PCDH10
protocadherin 10
10
SPARCL1
SPARC-like 1 (hevin)
5
TDO2
tryptophan 2,3-dioxygenase
23
WDFY3
WD repeat and FYVE domain containing 3
37
ZNF827
zinc finger protein 827
1
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