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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
GEN004 ADRB2 adrenergic, beta-2-, receptor, surface 5q32 Genetic Association
3
4 10 Cheslack-Postava K , et al. 2007 Edit
GEN006 AFF4 AF4/FMR2 family, member 4 5q31.1 Rare Single Gene variant
2
4 7 Sanders SJ , et al. 2012 Edit
GEN013 APC adenomatosis polyposis coli 5q22.2 Genetic Association
0
2 9 Barber JC , et al. 1994 Edit
GEN864 CAMK2A calcium/calmodulin dependent protein kinase II alpha 5q32 Rare single gene variant
3
21 8 Iossifov I , et al. 2014 Edit
GEN594 CAMK4 Calcium/calmodulin-dependent protein kinase IV 5q22.1 Genetic association
0
1 1 Waltes R , et al. 2014 Edit
GEN1040 CCNG1 cyclin G1 5q34 Rare single gene variant
2
6 1 Kushima I , et al. 2018 Edit
GEN042 CDH10 cadherin 10, type 2 (T2-cadherin) 5p14.2-p14.1 Genetic Association
4
17 10 Wang K , et al. 2009 Edit
GEN045 CDH9 cadherin 9, type 2 (T1-cadherin) 5p14.1 Genetic Association
4
14 7 Wang K , et al. 2009 Edit
GEN971 CHD1 chromodomain helicase DNA binding protein 1 5q15-q21.1 Rare single gene variant
3
8 4 Neale BM , et al. 2012 Edit
GEN1033 CPEB4 cytoplasmic polyadenylation element binding protein 4 5q35.2 Functional
0 1 Parras A , et al. 2018 Edit
GEN711 CTNND2 Catenin (cadherin-associated protein), delta 2 5p15.2 Rare single gene variant
3
18 5 Turner TN , et al. 2015 Edit
GEN991 DPYSL3 dihydropyrimidinase like 3 5q32 Rare single gene variant
2
2 2 Iossifov I , et al. 2014 Edit
GEN576 DRD1 Dopamine receptor D1 5q35.2 Genetic association
0
4 4 Hettinger JA , et al. 2008 Edit
GEN678 ERBIN erbb2 interacting protein 5q12.3 Rare single gene variant
3
4 6 Li J , et al. 2015 Edit
GEN679 EXOC3 exocyst complex component 3 5p15.33 Rare single gene variant
2
2 1 Li J , et al. 2015 Edit
GEN429 FER FERtyrosine kinase 5q21.3 Genetic association
2
2 1 Connolly JJ , et al. 2012 Edit
GEN624 GABRA1 Gamma-aminobutyric acid (GABA) A receptor, alpha 1 5q34 Functional
2
5 8 Fatemi SH , et al. 2008 Edit
GEN915 GRIA1 glutamate ionotropic receptor AMPA type subunit 1 5q33.2 Rare single gene variant
4
12 6 De Rubeis S , et al. 2014 Edit
GEN611 HCN1 Hyperpolarization activated cyclic nucleotide-gated potassium channel 1 5p12 Rare single gene variant
2
43 8 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 5 Kelleher RJ 3rd , et al. 2012 Edit
GEN325 MCC MCC, WNT signaling pathway regulator 5q22.2 Rare single gene variant
0
7 5 Barber JC , et al. 1994 Edit
GEN159 MEF2C myocyte enhancer factor 2C 5q14.3 Rare Single Gene variant
4
Yes 60 34 Novara F , et al. 2010 Edit
GEN906 MEGF10 multiple EGF like domains 10 5q23.2 Genetic association
2
7 6 Wu Z , et al. 2017 Edit
GEN278 NIPBL Nipped-B homolog (Drosophila) 5p13.2 Syndromic
3
18 13 Krantz ID , et al. 2004 Edit
GEN817 NR2F1 nuclear receptor subfamily 2 group F member 1 5q15 Rare single gene variant
3
35 12 Bosch DG , et al. 2014 Edit
GEN279 NSD1 nuclear receptor binding SET domain protein 1 5q35.3 Syndromic
3
27 14 Kurotaki N , et al. 2002 Edit
GEN1045 NUDCD2 NudC domain containing 2 5q34 Rare single gene variant
2
8 3 C Yuen RK , et al. 2017 Edit
GEN723 P4HA2 Prolyl 4-hydroxylase, alpha polypeptide II 5q31.1 Rare single gene variant
3
13 4 De Rubeis S , et al. 2014 Edit
GEN441 PCDHA1 Protocadherin alpha 1 5q31.3 Rare single gene variant
2
6 3 Anitha A , et al. 2012 Edit
GEN450 PCDHA10 Protocadherin alpha 10 5q31.3 Rare single gene variant
2
7 4 Anitha A , et al. 2012 Edit
GEN451 PCDHA11 Protocadherin alpha 11 5q31.3 Rare single gene variant
3
9 5 Anitha A , et al. 2012 Edit
GEN452 PCDHA12 Protocadherin alpha 12 5q31.3 Rare single gene variant
2
6 3 Anitha A , et al. 2012 Edit
GEN453 PCDHA13 Protocadherin alpha 13 5q31.3 Rare single gene variant
2
6 4 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
6 3 Anitha A , et al. 2012 Edit
GEN444 PCDHA4 Protocadherin alpha 4 5q31.3 Rare single gene variant
2
7 4 Anitha A , et al. 2012 Edit
GEN445 PCDHA5 Protocadherin alpha 5 5q31.3 Rare single gene variant
2
8 5 Anitha A , et al. 2012 Edit
GEN446 PCDHA6 Protocadherin alpha 6 5q31.3 Rare single gene variant
2
6 3 Anitha A , et al. 2012 Edit
GEN447 PCDHA7 Protocadherin alpha 7 5q31.3 Rare single gene variant
2
7 4 Anitha A , et al. 2012 Edit
GEN448 PCDHA8 Protocadherin alpha 8 5q31.3 Rare single gene variant
2
7 4 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
4 3 Anitha A , et al. 2012 Edit
GEN455 PCDHAC2 Protocadherin alpha subfamily C, 2 5q31.3 Genetic association
0
2 3 Anitha A , et al. 2012 Edit
GEN342 PCDHGA11 protocadherin gamma subfamily A, 11 5q31.3 Rare Single Gene variant
2
2 2 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
4
16 1 Reynhout S , et al. 2019 Edit
GEN760 RANBP17 RAN binding protein 17 5q35.1 Rare single gene variant
3
6 6 Sanders SJ , et al. 2015 Edit
GEN726 RBM27 RNA binding motif protein 27 5q32 Rare single gene variant
2
3 3 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
12 17 Melin M , et al. 2006 Edit
GEN1076 SH3RF2 SH3 domain containing ring finger 2 5q32 Functional
0 1 Wang S , et al. 2018 Edit
GEN233 SLC30A5 solute carrier family 30 5q13.1-q13.2 Rare Single Gene variant
2
1 3 O'Roak BJ , et al. 2011 Edit
GEN568 SLC6A3 Solute carrier family 6 (neurotransmitter transporter), member 3 5p15.33 Rare single gene variant
3
13 15 Hamilton PJ , et al. 2013 Edit
GEN597 SLIT3 slit guidance ligand 3 5q34-q35.1 Multigenic CNV
2
4 3 Cukier HN , et al. 2014 Edit
GEN823 TERT telomerase reverse transcriptase 5p15.33 Rare single gene variant
2
1 2 Kim KC , et al. 2015 Edit
GEN664 TRIO Trio Rho guanine nucleotide exchange factor 5p15.2 Rare Single Gene variant
4
66 23 De Rubeis S , et al. 2014 Edit
GEN950 TSPAN17 tetraspanin 17 5q35.2 Rare single gene variant
2
6 3 O'Roak BJ , et al. 2012 Edit
GEN1106 UIMC1 ubiquitin interaction motif containing 1 5q35.2 Rare single gene variant
3
6 3 Iossifov I , et al. 2014 Edit
GEN339 YTHDC2 YTH domain containing 2 5q22.2 Rare Single Gene variant
2
5 5 O'Roak BJ , et al. 2012 Edit
GEN990 ZSWIM6 zinc finger SWIM-type containing 6 5q12.1 Syndromic
3
8 2 Palmer EE , et al. 2017 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
5
Deletion-Duplication
 2
 
 
5
Deletion-Duplication
 8
 
 
5
Deletion-Duplication
 5
 
 
5
Deletion-Duplication
 6
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 16
 
 
5
Duplication
 1
 
 
5
Duplication
 2
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 8
 
 
5
Deletion
 2
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Deletion
 5
 
 
5
Deletion
 2
 
 
5
Deletion-Duplication
 13
 
 
5
Deletion
 1
 
 
5
Deletion
 5
 
 
5
Deletion-Duplication
 12
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 30
 
 
5
Deletion
 1
 
 
5
Duplication
 4
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 4
 
 
5
Deletion-Duplication
 4
 
 
5
Duplication
 2
 
 
5
Deletion-Duplication
 33
 
 
5
Duplication
 1
 
 
5
Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 2
 
 
5
Deletion
 2
 
 
5
Deletion
 6
 
 
5
Deletion
 4
 
 
5
Deletion
 3
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 6
 
 
5
Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 14
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 15
 
 
5
Deletion
 2
 
 
5
Duplication
 1
 
 
5
Duplication
 1
 
 
5
Duplication
 3
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 3
 
 
5
Deletion-Duplication
 13
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Duplication
 4
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 17
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 17
 
 
5
Deletion-Duplication
 2
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 2
 
 
5
Deletion-Duplication
 17
 
 
5
Duplication
 2
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 17
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion
 9
 
 
5
Deletion-Duplication
 6
 
 
5
Deletion-Duplication
 12
 
 
5
Deletion
 1
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 11
 
 
5
Deletion
 3
 
 
5
Deletion-Duplication
 12
 
 
5
Deletion
 1
 
 
5
Deletion
 8
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 27
 
 
5
Duplication
 3
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 10
 
 
5
Deletion
 2
 
 
5
Deletion
 2
 
 
5
Deletion-Duplication
 11
 
 
5
Duplication
 2
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 8
 
 
5
Deletion
 2
 
 
5
Deletion-Duplication
 8
 
 
5
Duplication
 3
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 9
 
 
5
Deletion-Duplication
 11
 
 
5
Deletion-Duplication
 17
 
 
5
Duplication
 1
 
 
5
Deletion
 6
 
 
5
Deletion
 1
 
 
5
Deletion-Duplication
 7
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 7
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 8
 
 
5
Deletion
 1
 
 
5
Duplication
 1
 
 
5
Deletion-Duplication
 15
 
 
5
Duplication
 7
 
 
5
Deletion-Duplication
 37
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Apc
 adenomatosis polyposis coli
 Mus musculus
 
 1
 2
 
  Camk2a
 calcium/calmodulin-dependent protein kinase II alpha
 Mus musculus
 
 1
 2
 
 catenin (cadherin-associated protein), delta 2b
 Danio rerio
 
 1
 20
 
 Adherens junction protein p120
 Drosophila melanogaster
 
 1
 2
 
  Ctnnd2
 Catenin(cadherin associated protein), delta 2
 Mus musculus
 
 1
 1
 
  Dpysl3
 dihydropyrimidinase-like 3 
 Mus musculus
 Not known
 1
 1
 
  Drd1
 Dopamine receptor D1
 Mus musculus
 
 1
 2
 
  Drd1
 dopamine receptor D1
 Rattus norvegicus
 
 2
 5
 
  Erbin
 Erbb2 interacting protein
 Mus musculus
 
 1
 2
 
  Hcn1
 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
 Rattus norvegicus
 
 1
 4
 
  Hdac3
 Histone deacetylase 3
 Mus musculus
 5q31
 1
 1
 
  Homer1
 homer homolog 1
 Mus musculus
 
 3
 4
 
  Homer1
 homer scaffolding protein 1
 Rattus norvegicus
 
 1
 2
 
  Mef2c
 myocyte enhancer factor 2C
 Mus musculus
 Unknown
 4
 9
 
  Pitx1
 paired-like homeodomain transcription factor 1
 Mus musculus
 Unknown
 1
 1
 
  Sema5a
 Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
 Mus musculus
 Unknown
 1
 1
 
  Sh3rf2
 SH3 domain containing ring finger 2 
 Mus musculus
 
 1
 2
 
  DAT
 Dopamine transporter
 Drosophila melanogaster
 
 2
 6
 
  Slc6a3
 solute carrier family 6 (neurotransmitter transporter), member 3
 Mus musculus
 
 6
 15
 
  Slc6a3
 solute carrier family 6 member 3
 Rattus norvegicus
 
 1
 4
 
  Tert
 Telomerase reverse transcriptase
 Mus musculus
 
 1
 2
 
  Trio
 triple functional domain (PTPRF interacting)
 Mus musculus
 
 1
 2

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
adrenergic, beta-2-, receptor, surface
194
AF4/FMR2 family, member 4
37
APC
adenomatous polyposis coli
391
cadherin 10, type 2 (T2-cadherin)
9
Cadherin-9
8
catenin (cadherin-associated protein), delta 2
99
dopamine receptor D1
3
gamma-aminobutyric acid (GABA) A receptor, alpha 1
4
hyperpolarization activated cyclic nucleotide-gated potassium channel 1
11
homer homolog 1 (Drosophila)
61
myocyte enhancer factor 2C
14
Nipped-B homolog (Drosophila)
18
nuclear receptor binding SET domain protein 1
383
protocadherin gamma subfamily A, 11
10
paired-like homeodomain 1
23
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
2
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
17
Slit homolog 3 protein
1
triple functional domain (PTPRF interacting)
7
YTH domain containing 2
24
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