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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
GEN407
ADARB1
Adenosine deaminase, RNA-specific, B1
21q22.3
Functional
2
11
6
Eran A , et al. 2012
Edit
GEN570
APP
Amyloid beta (A4) precursor protein
21q21.3
Functional
2
2
5
Bailey AR , et al. 2013
Edit
GEN039
CBS
cystathionine beta-synthase
21q22.3
Functional, Negative association
2
9
10
Levy HL , et al. 2002
Edit
GEN644
DIP2A
DIP2 disco-interacting protein 2 homolog A (Drosophila)
21q22.3
Rare single gene variant
3
18
14
Iossifov I , et al. 2012
Edit
GEN645
DSCAM
Down syndrome cell adhesion molecule
21q22.2
Rare single gene variant
4
102
18
Iossifov I et al. 2014
Edit
GEN367
DYRK1A
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
21q22.13
Syndromic
5
278
80
O'Roak BJ , et al. 2012
Edit
GEN404
ERG
ERG, ETS transcription factor
21q22.2
Genetic association
1
1
Anney R , et al. 2012
Edit
GEN303
HMGN1
high mobility group nucleosome binding domain 1
21q22.2
Genetic Association
11
1
Abuhatzira L , et al. 2011
Edit
GEN1119
ITSN1
intersectin 1
21q22.11
Rare single gene variant
4
45
10
De Rubeis S , et al. 2014
Edit
GEN687
KCNJ15
potassium voltage-gated channel subfamily J member 15
21q22.13-q22.2
Rare single gene variant
2
3
3
Li J , et al. 2015
Edit
GEN1203
SCAF4
SR-related CTD associated factor 4
21q22.11
Rare single gene variant
3
18
6
Fliedner A et al. 2020
Edit
GEN712
SIK1
Salt-inducible kinase 1
21q22.3
Rare single gene variant
2
10
8
Hansen J , et al. 2015
Edit
GEN604
SOD1
superoxide dismutase 1
21q22.11
Functional
2
3
3
Kova J , et al. 2013
Edit
GEN1139
SON
SONDNA binding protein
21q22.11
Rare single gene variant
4
85
24
Iossifov I et al. 2014
Edit
GEN929
SYNJ1
synaptojanin 1
21q22.11
Rare single gene variant
2
7
3
Lim ET , et al. 2017
Edit
GEN1377
ZBTB21
zinc finger and BTB domain containing 21
21q22.3
Rare single gene variant
3
4
4
Iossifov I et al. 2014
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
21
21p11.1
Duplication
2
21
21p11.2
Deletion-Duplication
3
21
21p11.2-p11.1
Deletion-Duplication
2
21
21p11.2-q11.2
Deletion
1
21
21p13-q22.3
Duplication
3
21
21q11.2
Deletion-Duplication
10
21
21q11.2-q21.1
Deletion-Duplication
2
21
21q11.2-q21.3
Deletion
2
21
21q11.2-q22.11
Deletion
1
21
21q11.2-q22.3
Duplication
11
21
21q21.1
Deletion-Duplication
18
21
21q21.1-q21.2
Deletion
7
21
21q21.1-q21.3
Deletion
1
21
21q21.1-q22.3
Duplication
2
21
21q21.2
Deletion-Duplication
6
21
21q21.2-q21.3
Deletion
2
21
21q21.3
Deletion-Duplication
16
21
21q21.3-q22.11
Duplication
2
21
21q22.11
Deletion-Duplication
13
21
21q22.11-q22.12
Duplication
9
21
21q22.11-q22.3
Deletion-Duplication
1
21
21q22.12
Deletion-Duplication
12
21
21q22.12-q22.13
Deletion
1
21
21q22.12-q22.2
Duplication
4
21
21q22.12-q22.3
Deletion
2
21
21q22.13
Deletion-Duplication
9
21
21q22.13-q22.2
Deletion
3
21
21q22.13-q22.3
Deletion
3
21
21q22.2
Deletion-Duplication
8
21
21q22.2-q22.3
Deletion
5
21
21q22.3
Deletion-Duplication
43
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
App
amyloid beta (A4) precursor protein
Mus musculus
Bailey AR , et al. 2013
1
1
Dip2a
disco interacting protein 2 homolog A
Mus musculus
Ma J , et al. 2019
1
2
Dscam1
Down syndrome cell adhesion molecule 1
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Dscam
Down syndrome cell adhesion molecule
Mus musculus
Maynard KR and Stein E 2012
6
13
dyrk1aa
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, a
Danio rerio
Kim OH , et al. 2017
1
2
mnb
minibrain
Drosophila melanogaster
Shaikh MN , et al. 2016
2
10
Dyrk1a
dual specificity tyrosine-Y- phosphorylation regulated kinase 1a
Mus musculus
Altafaj X , et al. 2001
5
10
Hmgn1
High mobility group nucleosomal binding domain 1
Mus musculus
Unknown
Abuhatzira L , et al. 2011
1
2
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
APP
amyloid beta (A4) precursor protein
79
DIP2A
DIP2 disco-interacting protein 2 homolog A (Drosophila)
31
DSCAM
Down syndrome cell adhesion molecule
8
DYRK1A
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
55
ERG
v-ets erythroblastosis virus E26 oncogene homolog (avian)
1
HMGN1
high mobility group nucleosome binding domain 1
35
SOD1
superoxide dismutase 1, soluble
8
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