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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
GEN003 ADORA2A adenosine A2a receptor 22q11.23 Syndromic
0
2 7 Freitag CM , et al. 2009 Edit
GEN005 ADSL adenylosuccinate lyase 22q13.1 Rare Single Gene variant
2
4 6 Sivendran S , et al. 2004 Edit
GEN488 CACNA1I Calcium channel, voltage-dependent, T type, alpha 1I subunit 22q13.1 Genetic association
2
7 6 Lu AT , et al. 2012 Edit
GEN507 CECR2 CECR2, histone acetyl-lysine reader 22q11.1-q11.21 Rare single gene variant
2
4 2 Prasad A , et al. 2013 Edit
GEN741 CHKB Choline kinase beta 22q13.33 Syndromic
2
21 4 Haliloglu G , et al. 2015 Edit
GEN349 CLTCL1 clathrin, heavy chain-like 1 22q11.21 Rare single gene variant
3
Yes 13 5 Chahrour MH , et al. 2012 Edit
GEN996 CSNK1E casein kinase 1 epsilon 22q13.1 Functional
2
2 5 De Rubeis S , et al. 2014 Edit
GEN541 DEPDC5 DEP domain containing 5 22q12.2-q12.3 Syndromic
3
87 9 Dibbens LM , et al. 2013 Edit
GEN308 EP300 E1A binding protein p300 22q13.2 Syndromic
3
31 16 Vaags AK , et al. 2012 Edit
GEN304 GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like 22q11.21 Rare Single Gene variant
2
7 2 Chen YZ , et al. 2011 Edit
GEN974 IL17RA interleukin 17 receptor A 22q11.1 Rare single gene variant
2
1 3 Choi GB , et al. 2016 Edit
GEN730 LZTR1 Leucine-zipper-like transcription regulator 1 22q11.21 Rare single gene variant
3
8 4 Krumm N , et al. 2015 Edit
GEN418 MAPK1 Mitogen-activated protein kinase 1 22q11.22 Functional
0
1 2 Satoh Y , et al. 2011 Edit
GEN691 MAPK12 mitogen-activated protein kinase 12 22q13.33 Rare single gene variant
0
1 1 Li J , et al. 2015 Edit
GEN419 MAPK8IP2 Mitogen-activated protein kinase 8 interacting protein 2 22q13.33 Functional
0 1 Giza J , et al. 2010 Edit
GEN639 PRODH Proline dehydrogenase (oxidase) 1 22q11.21 Syndromic
3
17 6 Afenjar A , et al. 2007 Edit
GEN734 PVALB Parvalbumin 22q12.3 Functional
0 2 Whr M , et al. 2015 Edit
GEN473 SBF1 SET binding factor 1 22q13.33 Rare Single Gene variant
3
7 6 O'Roak BJ , et al. 2012 Edit
GEN475 SGSM3 Small G protein signaling modulator 3 22q13.1 Rare Single Gene variant
2
6 4 O'Roak BJ , et al. 2012 Edit
GEN230 SHANK3 SH3 and multiple ankyrin repeat domains 3 22q13.33 Rare Single Gene variant
5
256 66 Durand CM , et al. 2006 Edit
GEN564 SYN3 Synapsin III 22q12.3 Functional
0
1 2 Greco B , et al. 2013 Edit
GEN286 TBX1 T-box 1 22q11.21 Syndromic
2
1 1 Paylor R , et al. 2006 Edit
GEN633 TCF20 Transcription factor 20 (AR1) 22q13.2 Rare single gene variant
4
16 8 Babbs C , et al. 2014 Edit
GEN653 TNRC6B Trinucleotide repeat containing 6B 22q13.1 Rare single gene variant
4
4 5 Dong S , et al. 2014 Edit
GEN561 TOP3B Topoisomerase (DNA) III beta 22q11.22 Rare single gene variant
2
5 6 Xu D , et al. 2013 Edit
GEN509 UPB1 beta-ureidopropionase 1 22q11.23 Rare single gene variant
0
1 1 Prasad A , et al. 2013 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
22
Deletion
 1
 
 
22
Deletion-Duplication
 1
 
 
22
Deletion-Duplication
 15
 
 
22
Duplication
 5
 
 
22
Duplication
 1
 
 
22
Duplication
 6
  construct
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 72
  construct
 
22
Deletion-Duplication
 11
 
 
22
Deletion
 5
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 22
 
 
22
Duplication
 7
 
 
22
Deletion-Duplication
 28
 
 
22
Duplication
 2
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 10
 
 
22
Deletion-Duplication
 3
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 6
 
 
22
Deletion-Duplication
 22
 
 
22
Deletion
 2
 
 
22
Duplication
 1
 
 
22
Deletion
 1
 
 
22
Deletion-Duplication
 23
 
 
22
Duplication
 1
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 15
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 9
 
 
22
Deletion
 1
 
 
22
Deletion-Duplication
 16
 
 
22
Duplication
 1
 
 
22
Deletion-Duplication
 21
 
 
22
Deletion-Duplication
 3
 
 
22
Duplication
 23
 
 
22
Deletion-Duplication
 53
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
 Adenosine A2a receptor
 Mus musculus
 Unknown
 2
 2
 
  Csnk1e
 casein kinase 1, epsilon
 Mus musculus
 
 1
 1
 
  Gsc2
 goosecoid homebox 2
 Mus musculus
 Unknown
 1
 1
 
  Mapk1
 mitogen-activated protein kinase 1
 Mus musculus
 Unknown
 1
 1
 
 mitogen-activated protein kinase 8 interacting protein 2
 Mus musculus
 Yes
 1
 1
 
  Pvalb
 Parvalbumin
 Mus musculus
 
 1
 3
 
  Rbfox2
 RNA binding protein, fox-1 homolog
 Mus musculus
 Unknown
 1
 1
 
 SH3 and multiple ankyrin repeat domains 3b
 Danio rerio
 
 2
 5
 
  Shank3
 SH3/ankyrin domain gene 3
 Mus musculus
 Unknown
 21
 54
 
  Shank3
 SH3 and multiple ankyrin repeat domains 3
 Rattus norvegicus
 Unknown
 3
 4
 
 solute carrier family 16 (monocarboxylic acid transporters), member 8
 Mus musculus
 
 1
 1
 
  Syn3
 Syapsin III
 Mus musculus
 
 2
 2
 
  org-1
 optomotor-blind-related-gene-1
 Drosophila melanogaster
 
 1
 7
 
  Tbx1
 T-box1
 Mus musculus
 Unknown
 2
 1
 
 Topoisomerase 3beta
 Drosophila melanogaster
 
 1
 4
 
  Top3b
 Topoisomerase (DNA) III beta
 Mus musculus
 
 2
 2

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
adenosine A2a receptor
15
adenylosuccinate lyase
17
clathrin, heavy chain-like 1
39
DiGeorge syndrome critical region gene 8
7
E1A binding protein p300
16
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
14
mitogen-activated protein kinase 1
7
mitogen-activated protein kinase 12
6
mitogen-activated protein kinase 8 interacting protein 2
6
SET binding factor 1
18
SH3 and multiple ankyrin repeat domains 3
183
synapsin III
2
trinucleotide repeat containing 6B
35
topoisomerase (DNA) III beta
1986
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