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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
GEN004
ADRB2
adrenergic, beta-2-, receptor, surface
5q32
Genetic Association
4
10
Cheslack-Postava K , et al. 2007
Edit
GEN006
AFF4
AF4/FMR2 family, member 4
5q31.1
Rare Single Gene variant
2
7
9
Sanders SJ , et al. 2012
Edit
GEN013
APC
adenomatosis polyposis coli
5q22.2
Genetic Association
2
7
13
Barber JC , et al. 1994
Edit
GEN864
CAMK2A
calcium/calmodulin dependent protein kinase II alpha
5q32
Rare single gene variant
3
25
12
Iossifov I et al. 2014
Edit
GEN594
CAMK4
calcium/calmodulin dependent protein kinase IV
5q22.1
Genetic association
3
6
6
Waltes R , et al. 2014
Edit
GEN1040
CCNG1
cyclin G1
5q34
Rare single gene variant
0
7
2
Kushima I , et al. 2018
Edit
GEN042
CDH10
cadherin 10, type 2 (T2-cadherin)
5p14.2-p14.1
Genetic Association
3
20
11
Wang K , et al. 2009
Edit
GEN045
CDH9
cadherin 9, type 2 (T1-cadherin)
5p14.1
Genetic Association
2
14
7
Wang K , et al. 2009
Edit
GEN971
CHD1
chromodomain helicase DNA binding protein 1
5q15-q21.1
Rare single gene variant
3
18
13
Neale BM , et al. 2012
Edit
GEN1033
CPEB4
cytoplasmic polyadenylation element binding protein 4
5q35.2
Functional
2
2
3
Parras A , et al. 2018
Edit
GEN711
CTNND2
Catenin (cadherin-associated protein), delta 2
5p15.2
Rare single gene variant
3
28
15
Turner TN , et al. 2015
Edit
GEN991
DPYSL3
dihydropyrimidinase like 3
5q32
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN576
DRD1
Dopamine receptor D1
5q35.2
Genetic association
4
4
Hettinger JA , et al. 2008
Edit
GEN678
ERBIN
erbb2 interacting protein
5q12.3
Rare single gene variant
3
6
9
Li J , et al. 2015
Edit
GEN679
EXOC3
exocyst complex component 3
5p15.33
Rare single gene variant
2
7
3
Li J , et al. 2015
Edit
GEN429
FER
FERtyrosine kinase
5q21.3
Genetic association
0
3
2
Connolly JJ , et al. 2012
Edit
GEN624
GABRA1
Gamma-aminobutyric acid (GABA) A receptor, alpha 1
5q34
Functional
3
13
13
Fatemi SH , et al. 2008
Edit
GEN1166
GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
5q34
Rare single gene variant
2
7
6
Iossifov I et al. 2014
Edit
GEN1401
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma 2
5q34
Genetic association
3
25
11
Miyake N et al. 2023
Edit
GEN1194
GALNT10
polypeptide N-acetylgalactosaminyltransferase 10
5q33.2
Genetic association
2
9
7
Wu Y et al. 2020
Edit
GEN915
GRIA1
glutamate ionotropic receptor AMPA type subunit 1
5q33.2
Rare single gene variant
4
21
12
De Rubeis S , et al. 2014
Edit
GEN611
HCN1
Hyperpolarization activated cyclic nucleotide-gated potassium channel 1
5p12
Rare single gene variant
3
53
14
Nava C , et al. 2014
Edit
GEN843
HDAC3
histone deacetylase 3
5q31.3
Rare single gene variant
2
3
6
Nott A , et al. 2016
Edit
GEN356
HOMER1
Homer homolog 1 (Drosophila)
5q14.1
Rare single gene variant
3
8
6
Kelleher RJ 3rd , et al. 2012
Edit
GEN1274
JMY
junction mediating and regulatory protein, p53 cofactor
5q14.1
Rare single gene variant
2
5
2
Wilfert AB et al. 2021
Edit
GEN1137
KDM3B
lysine demethylase 3B
5q31.2
Syndromic
3
22
5
Diets IJ , et al. 2019
Edit
GEN1394
MAP1B
microtubule associated protein 1B
5q13.2
Functional
4
17
13
Spataro N et al. 2023
Edit
GEN325
MCC
MCC, WNT signaling pathway regulator
5q22.2
Rare single gene variant
2
12
7
Barber JC , et al. 1994
Edit
GEN159
MEF2C
myocyte enhancer factor 2C
5q14.3
Rare Single Gene variant
4
Yes
99
53
Novara F , et al. 2010
Edit
GEN906
MEGF10
multiple EGF like domains 10
5q23.2
Genetic association
2
9
8
Wu Z , et al. 2017
Edit
GEN1190
MSX2
msh homeobox 2
5q35.2
Rare single gene variant
2
5
2
C Yuen RK et al. 2017
Edit
GEN278
NIPBL
Nipped-B homolog (Drosophila)
5p13.2
Syndromic
2
25
19
Krantz ID , et al. 2004
Edit
GEN817
NR2F1
nuclear receptor subfamily 2 group F member 1
5q15
Rare single gene variant
4
83
27
Bosch DG , et al. 2014
Edit
GEN279
NSD1
nuclear receptor binding SET domain protein 1
5q35.3
Syndromic
4
61
34
Kurotaki N , et al. 2002
Edit
GEN1045
NUDCD2
NudC domain containing 2
5q34
Rare single gene variant
2
11
4
C Yuen RK et al. 2017
Edit
GEN1164
NUP155
nucleoporin 155
5p13.2
Rare single gene variant
2
4
4
Satterstrom FK et al. 2020
Edit
GEN723
P4HA2
Prolyl 4-hydroxylase, alpha polypeptide II
5q31.1
Rare single gene variant
3
14
5
De Rubeis S , et al. 2014
Edit
GEN441
PCDHA1
Protocadherin alpha 1
5q31.3
Rare single gene variant
2
7
4
Anitha A , et al. 2012
Edit
GEN450
PCDHA10
Protocadherin alpha 10
5q31.3
Rare single gene variant
2
11
6
Anitha A , et al. 2012
Edit
GEN451
PCDHA11
Protocadherin alpha 11
5q31.3
Rare single gene variant
2
10
6
Anitha A , et al. 2012
Edit
GEN452
PCDHA12
Protocadherin alpha 12
5q31.3
Rare single gene variant
2
8
5
Anitha A , et al. 2012
Edit
GEN453
PCDHA13
Protocadherin alpha 13
5q31.3
Rare single gene variant
2
7
5
Anitha A , et al. 2012
Edit
GEN442
PCDHA2
Protocadherin alpha 2
5q31.3
Rare single gene variant
2
9
5
Anitha A , et al. 2012
Edit
GEN443
PCDHA3
Protocadherin alpha 3
5q31.3
Rare single gene variant
2
8
5
Anitha A , et al. 2012
Edit
GEN444
PCDHA4
Protocadherin alpha 4
5q31.3
Rare single gene variant
2
10
6
Anitha A , et al. 2012
Edit
GEN445
PCDHA5
Protocadherin alpha 5
5q31.3
Rare single gene variant
2
11
7
Anitha A , et al. 2012
Edit
GEN446
PCDHA6
Protocadherin alpha 6
5q31.3
Rare single gene variant
2
8
4
Anitha A , et al. 2012
Edit
GEN447
PCDHA7
Protocadherin alpha 7
5q31.3
Rare single gene variant
2
10
7
Anitha A , et al. 2012
Edit
GEN448
PCDHA8
Protocadherin alpha 8
5q31.3
Rare single gene variant
2
10
5
Anitha A , et al. 2012
Edit
GEN449
PCDHA9
Protocadherin alpha 9
5q31.3
Rare single gene variant
2
7
4
Anitha A , et al. 2012
Edit
GEN454
PCDHAC1
Protocadherin alpha subfamily C, 1
5q31.3
Genetic association
2
6
5
Anitha A , et al. 2012
Edit
GEN455
PCDHAC2
Protocadherin alpha subfamily C, 2
5q31.3
Genetic association
2
4
4
Anitha A , et al. 2012
Edit
GEN342
PCDHGA11
protocadherin gamma subfamily A, 11
5q31.3
Rare Single Gene variant
2
5
4
Sato D , et al. 2012
Edit
GEN196
PITX1
paired-like homeodomain 1
5q31.1
Genetic Association
2
9
6
Philippi A , et al. 2007
Edit
GEN1055
PPP2CA
protein phosphatase 2 catalytic subunit alpha
5q31.1
Syndromic
3
20
4
Reynhout S , et al. 2019
Edit
GEN760
RANBP17
RAN binding protein 17
5q35.1
Rare single gene variant
3
11
9
Sanders SJ , et al. 2015
Edit
GEN726
RBM27
RNA binding motif protein 27
5q32
Rare single gene variant
2
4
4
Krumm N , et al. 2015
Edit
GEN226
SEMA5A
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
5p15.31
Functional
3
17
20
Melin M , et al. 2006
Edit
GEN1076
SH3RF2
SH3 domain containing ring finger 2
5q32
Functional
2
6
5
Wang S , et al. 2018
Edit
GEN1331
SLC23A1
solute carrier family 23 member 1
5q31.2
Rare single gene variant
2
7
5
Iossifov I et al. 2014
Edit
GEN233
SLC30A5
solute carrier family 30
5q13.1-q13.2
Rare Single Gene variant
2
3
5
O'Roak BJ , et al. 2011
Edit
GEN568
SLC6A3
Solute carrier family 6 (neurotransmitter transporter), member 3
5p15.33
Rare single gene variant
3
14
16
Hamilton PJ , et al. 2013
Edit
GEN597
SLIT3
slit guidance ligand 3
5q34-q35.1
Multigenic CNV
2
8
5
Cukier HN , et al. 2014
Edit
GEN1414
SNCAIP
synuclein alpha interacting protein
5q23.2
Rare single gene variant
2
5
3
Cirnigliaro M et al. 2023
Edit
GEN823
TERT
telomerase reverse transcriptase
5p15.33
Rare single gene variant
2
2
3
Kim KC , et al. 2015
Edit
GEN1162
TRIM23
tripartite motif containing 23
5q12.3
Rare single gene variant
3
6
8
De Rubeis S , et al. 2014
Edit
GEN664
TRIO
Trio Rho guanine nucleotide exchange factor
5p15.2
Rare Single Gene variant
4
177
44
De Rubeis S , et al. 2014
Edit
GEN950
TSPAN17
tetraspanin 17
5q35.2
Rare single gene variant
2
7
4
O'Roak BJ , et al. 2012
Edit
GEN1106
UIMC1
ubiquitin interaction motif containing 1
5q35.2
Rare single gene variant
3
28
6
Iossifov I et al. 2014
Edit
GEN339
YTHDC2
YTH domain containing 2
5q22.2
Rare Single Gene variant
3
10
7
O'Roak BJ , et al. 2012
Edit
GEN990
ZSWIM6
zinc finger SWIM-type containing 6
5q12.1
Syndromic
3
12
6
Palmer EE , et al. 2017
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
5
5p11
Deletion-Duplication
2
5
5p12
Deletion-Duplication
10
5
5p12-p11
Deletion-Duplication
6
5
5p13.1
Deletion-Duplication
6
5
5p13.1-p11
Duplication
1
5
5p13.2
Deletion-Duplication
20
5
5p13.2-p12
Duplication
1
5
5p13.2-p13.1
Duplication
2
5
5p13.2-q11.1
Duplication
1
5
5p13.2-q12.1
Duplication
1
5
5p13.3
Deletion-Duplication
8
5
5p13.3-p13.2
Deletion
2
5
5p13.3-q11.2
Duplication
1
5
5p14.1
Deletion-Duplication
9
5
5p14.1-p13.1
Duplication
1
5
5p14.1-p13.3
Duplication
1
5
5p14.1-q11.1
Duplication
1
5
5p14.2
Deletion
5
5
5p14.2-p14.1
Deletion
2
5
5p14.3
Deletion-Duplication
13
5
5p14.3-p14.1
Deletion
1
5
5p14.3-p14.2
Deletion
5
5
5p15.1
Deletion-Duplication
12
5
5p15.1-p14.3
Deletion
1
5
5p15.2
Deletion-Duplication
37
5
5p15.2-p14.3
Deletion
1
5
5p15.2-p15.1
Duplication
4
5
5p15.3
Deletion
1
5
5p15.31
Deletion-Duplication
10
5
5p15.31-p15.2
Deletion
4
5
5p15.32
Deletion-Duplication
4
5
5p15.32-p14.3
Duplication
2
5
5p15.33
Deletion-Duplication
36
5
5p15.33-p12
Duplication
1
5
5p15.33-p13.2
Duplication
2
5
5p15.33-p13.3
Deletion
1
5
5p15.33-p14.1
Deletion
2
5
5p15.33-p14.3
Deletion
3
5
5p15.33-p15.1
Deletion
4
5
5p15.33-p15.2
Deletion
10
5
5p15.33-p15.31
Deletion
4
5
5p15.33-p15.32
Deletion
4
5
5pter
Deletion
1
5
5q11.1
Deletion-Duplication
6
5
5q11.1-q11.2
Duplication
2
5
5q11.1-q12.1
Deletion
1
5
5q11.2
Deletion-Duplication
14
5
5q11.2-q12.1
Deletion
1
5
5q11.2-q12.2
Deletion
1
5
5q11.2-q13.2
Deletion
1
5
5q12.1
Deletion-Duplication
15
5
5q12.1-q12.2
Deletion
3
5
5q12.1-q12.3
Duplication
1
5
5q12.1-q35.3
Duplication
1
5
5q12.2
Duplication
3
5
5q12.3
Deletion-Duplication
10
5
5q12.3-q13.2
Deletion
1
5
5q13.1
Deletion-Duplication
3
5
5q13.2
Deletion-Duplication
15
5
5q13.2-q13.3
Duplication
1
5
5q13.3
Deletion-Duplication
9
5
5q13.3-q14.1
Duplication
4
5
5q13.3-q22.1
Duplication
1
5
5q14.1
Deletion-Duplication
18
5
5q14.1-q14.2
Duplication
1
5
5q14.2
Deletion-Duplication
1
5
5q14.2-q14.3
Deletion
1
5
5q14.3
Deletion-Duplication
21
5
5q14.3-q15
Deletion-Duplication
2
5
5q14.3-q21.1
Deletion
1
5
5q14.3-q21.2
Deletion
1
5
5q14.3-q21.3
Deletion
2
5
5q15
Deletion-Duplication
19
5
5q15-q21.1
Duplication
2
5
5q15-q22.3
Duplication
1
5
5q21.1
Deletion-Duplication
17
5
5q21.1-q21.2
Deletion
1
5
5q21.1-q22.2
Deletion
1
5
5q21.1-q23.3
Deletion
1
5
5q21.2
Deletion
9
5
5q21.2-q21.3
Deletion-Duplication
6
5
5q21.3
Deletion-Duplication
12
5
5q21.3-q22.2
Deletion
2
5
5q21.3-q33.2
Deletion
1
5
5q22.1
Deletion-Duplication
12
5
5q22.1-q22.2
Deletion
3
5
5q22.2
Deletion-Duplication
14
5
5q22.2-q22.3
Deletion
1
5
5q22.3
Deletion
8
5
5q22.3-q23.1
Duplication
1
5
5q23.1
Deletion-Duplication
27
5
5q23.1-q23.2
Duplication
3
5
5q23.1-q31.1
Deletion
1
5
5q23.2
Deletion-Duplication
10
5
5q23.2-q23.3
Deletion
3
5
5q23.2-q31.1
Deletion
2
5
5q23.3
Deletion-Duplication
11
5
5q23.3-q31.1
Duplication
2
5
5q23.3-q33.2
Duplication
1
5
5q31.1
Deletion-Duplication
9
5
5q31.1-q31.2
Deletion
2
5
5q31.2
Deletion-Duplication
8
5
5q31.2-q31.3
Duplication
3
5
5q31.2-q32
Deletion
1
5
5q31.3
Deletion-Duplication
9
5
5q32
Deletion-Duplication
12
5
5q33.1
Deletion-Duplication
17
5
5q33.1-q35.3
Duplication
1
5
5q33.2
Deletion
6
5
5q33.2-q34
Deletion
1
5
5q33.3
Deletion-Duplication
7
5
5q33.3-q35.1
Deletion
1
5
5q33.3-q35.3
Duplication
1
5
5q34
Deletion-Duplication
7
5
5q34-q35.1
Deletion
1
5
5q35
Duplication
1
5
5q35.1
Deletion-Duplication
8
5
5q35.1-q35.2
Deletion
1
5
5q35.1-q35.3
Duplication
1
5
5q35.2
Deletion-Duplication
15
5
5q35.2-q35.3
Duplication
13
5
5q35.3
Deletion-Duplication
37
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Dpysl3
dihydropyrimidinase-like 3
Mus musculus
Not known
Tsutiya A , et al. 2017
1
1
Nr2f1
nuclear receptor subfamily 2 group F member 1
Mus musculus
NA
Zhang K et al. 2020
1
2
Sh3rf2
SH3 domain containing ring finger 2
Mus musculus
Wang S , et al. 2018
1
2
Map1b
microtubule-associated protein 1B
Mus musculus
Guo Y et al. 2023
1
1
Homer1
homer homolog 1
Mus musculus
et al.
3
4
Homer1
homer scaffolding protein 1
Rattus norvegicus
Banerjee A , et al. 2016
1
2
Gabrb2
gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
Mus musculus
1
8
Drd1
Dopamine receptor D1
Mus musculus
Ortiz O , et al. 2010
1
2
Drd1
dopamine receptor D1
Rattus norvegicus
Homberg JR , et al. 2016
2
5
Hdac3
Histone deacetylase 3
Mus musculus
5q31
Nott A , et al. 2016
1
1
Mef2c
myocyte enhancer factor 2C
Mus musculus
Unknown
Vong LH , et al. 2005
6
15
Pitx1
paired-like homeodomain transcription factor 1
Mus musculus
Unknown
Lancta't C , et al. 1999
1
1
Trio
triple functional domain (PTPRF interacting)
Mus musculus
Katrancha SM , et al. 2019
1
2
Tert
Telomerase reverse transcriptase
Mus musculus
Kim KC , et al. 2015
1
2
DAT
Dopamine transporter
Drosophila melanogaster
Hamilton PJ , et al. 2013
2
6
Slc6a3
solute carrier family 6 (neurotransmitter transporter), member 3
Mus musculus
et al.
6
15
Slc6a3
solute carrier family 6 member 3
Rattus norvegicus
Hadar R , et al. 2016
1
4
Sema5a
Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
Mus musculus
Unknown
Fiore R , et al. 2005
1
1
ctnnd2b
catenin (cadherin-associated protein), delta 2b
Danio rerio
Turner TN , et al. 2015
1
20
p120ctn
Adherens junction protein p120
Drosophila melanogaster
Grice SJ , et al. 2015
1
2
Ctnnd2
Catenin(cadherin associated protein), delta 2
Mus musculus
Israely I , et al. 2004
2
5
Apc
adenomatosis polyposis coli
Mus musculus
Mohn JL , et al. 2014
1
2
Erbin
Erbb2 interacting protein
Mus musculus
Tao Y , et al. 2009
1
2
Camk2a
calcium/calmodulin-dependent protein kinase II alpha
Mus musculus
Stephenson JR , et al. 2017
1
2
Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
Rattus norvegicus
Ohno Y , et al. 2015
1
4
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ADRB2
adrenergic, beta-2-, receptor, surface
194
AFF4
AF4/FMR2 family, member 4
37
APC
adenomatous polyposis coli
391
CDH10
cadherin 10, type 2 (T2-cadherin)
9
CDH9
Cadherin-9
8
CTNND2
catenin (cadherin-associated protein), delta 2
99
DRD1
dopamine receptor D1
3
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
4
HCN1
hyperpolarization activated cyclic nucleotide-gated potassium channel 1
11
HOMER1
homer homolog 1 (Drosophila)
61
MEF2C
myocyte enhancer factor 2C
14
NIPBL
Nipped-B homolog (Drosophila)
18
NSD1
nuclear receptor binding SET domain protein 1
383
PCDHGA11
protocadherin gamma subfamily A, 11
10
PITX1
paired-like homeodomain 1
23
SEMA5A
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
2
SLC6A3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
17
Slit3
Slit homolog 3 protein
1
TRIO
triple functional domain (PTPRF interacting)
7
YTHDC2
YTH domain containing 2
24
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