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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
GEN268
ABAT
4-aminobutyrate aminotransferase
16p13.2
Genetic Association
2
8
8
Barnby G , et al. 2005
Edit
GEN567
ADAMTS18
ADAM metallopeptidase with thrombospondin type 1 motif 18
16q23.1
Rare single gene variant
2
Yes
10
7
Peluso I , et al. 2013
Edit
GEN011
ANKRD11
ankyrin repeat domain 11
16q24.3
Rare Single Gene variant
5
262
75
Marshall CR , et al. 2008
Edit
GEN1258
AP1G1
adaptor related protein complex 1 subunit gamma 1
16q22.2
Rare single gene variant
3
18
4
Usmani MA et al. 2021
Edit
GEN423
BCKDK
Branched chain ketoacid dehydrogenase kinase
16p11.2
Rare single gene variant
2
Yes
21
8
Novarino G , et al. 2012
Edit
GEN035
CACNA1H
calcium channel, voltage-dependent, alpha 1H subunit
16p13.3
Rare Single Gene variant
4
65
34
Splawski I , et al. 2006
Edit
GEN1350
CASKIN1
CASK interacting protein 1
16p13.3
Functional
3
14
8
Zhou X et al. 2022
Edit
GEN897
CBLN1
cerebellin 1 precursor
16q12.1
Functional
1
6
Krishnan V , et al. 2017
Edit
GEN615
CDH11
cadherin 11
16q21
Rare Single Gene variant/genetic association
3
19
8
Crepel A , et al. 2014
Edit
GEN1041
CDH13
cadherin 13
16q23.3
Rare single gene variant
2
13
6
Iossifov I et al. 2014
Edit
GEN044
CDH8
cadherin 8, type 2
16q21
Rare Single Gene variant
2
11
12
Pagnamenta AT , et al. 2010
Edit
GEN1303
CHD9
chromodomain helicase DNA binding protein 9
16q12.2
Rare single gene variant
3
15
8
Iossifov I et al. 2014
Edit
GEN949
CHMP1A
charged multivesicular body protein 1A
16q24.3
Syndromic
2
8
5
De Rubeis S , et al. 2014
Edit
GEN048
CHST5
carbohydrate sulfotransferase 5
16q23.1
Rare Single Gene variant
2
2
6
O'Roak BJ , et al. 2011
Edit
GEN720
CIBAR2
CBY1 interacting BAR domain containing 2
16q24.1
Rare single gene variant
2
3
3
Krumm N , et al. 2015
Edit
GEN382
CMIP
c-Maf inducing protein
16q23.2-q23.3
Genetic Association
0
20
6
Van der Aa N , et al. 2012
Edit
GEN1191
CNOT1
CCR4-NOT transcription complex subunit 1
16q21
Rare single gene variant
3
47
9
Iossifov I et al. 2014
Edit
GEN616
CNTNAP4
Contactin associated protein-like 4
16q23.1
Rare Single Gene variant
3
32
15
Karayannis T , et al. 2014
Edit
GEN1169
CORO1A
coronin 1A
16p11.2
Rare single gene variant
2
4
3
Satterstrom FK et al. 2020
Edit
GEN285
CREBBP
CREB binding protein
16p13.3
Syndromic
4
120
41
Barnby G , et al. 2005
Edit
GEN549
CTCF
CCCTC-binding factor
16q22.1
Functional
4
84
25
Ishihara K , et al. 2006
Edit
GEN059
DCTN5
dynactin 5
16p12.2
Rare Single Gene variant
2
2
4
O'Roak BJ , et al. 2011
Edit
GEN966
DNAH3
dynein axonemal heavy chain 3
16p12.3
Rare single gene variant
4
147
8
Krumm N , et al. 2015
Edit
GEN383
GAN
Gigaxonin
16q23.2
Rare single gene variant
2
3
3
Van der Aa N , et al. 2012
Edit
GEN1273
GLG1
golgi glycoprotein 1
16q23.1
Rare single gene variant
2
5
2
Wilfert AB et al. 2021
Edit
GEN107
GPR139
G protein-coupled receptor 139
16p12.3
Rare Single Gene variant
2
2
6
O'Roak BJ , et al. 2011
Edit
GEN110
GRIN2A
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
16p13.2
Genetic Association
4
215
63
Barnby G , et al. 2005
Edit
GEN514
HYDIN
HYDIN, axonemal central pair apparatus protein
16q22.2
Multigenic CNV
2
12
5
Girirajan S , et al. 2013
Edit
GEN363
KCTD13
Potassium channel tetramerisation domain containing 13
16p11.2
Rare single gene variant
0
4
9
Golzio C , et al. 2012
Edit
GEN979
LAT
linker for activation of T-cells
16p11.2
Functional
0
2
Loviglio MN , et al. 2017
Edit
GEN284
MAPK3
mitogen-activated protein kinase 3
16p11.2
Rare Single Gene variant
3
13
6
Schaaf CP , et al. 2011
Edit
GEN1096
METTL26
methyltransferase like 26
16p13.3
Rare single gene variant
2
2
2
Iossifov I et al. 2014
Edit
GEN161
MRTFB
myocardin related transcription factor B
16p13.12
Genetic Association
3
13
12
Holt R , et al. 2010
Edit
GEN1391
MTSS2
MTSS I-BAR domain containing 2
16q22.1
Rare single gene variant
4
13
5
Satterstrom FK et al. 2020
Edit
GEN201
PRKCB
protein kinase C beta
16p12.2-p12.1
Genetic Association
2
7
8
Philippi A , et al. 2005
Edit
GEN1412
PRR25
proline rich 25
16p13.3
Rare single gene variant
2
6
2
Cirnigliaro M et al. 2023
Edit
GEN001
RBFOX1
RNA binding protein, fox-1 homolog (C. elegans) 1
16p13.3
Genetic Association
2
86
44
Sebat J , et al. 2007
Edit
GEN1276
RBL2
RB transcriptional corepressor like 2
16q12.2
Syndromic
3
9
5
Wilfert AB et al. 2021
Edit
GEN521
RNPS1
RNA binding protein with serine rich domain 1
16p13.3
Multigenic CNV
1
1
Nguyen LS , et al. 2013
Edit
GEN1176
SETD1A
SET domain containing 1A, histone lysine methyltransferase
16p11.2
Rare single gene variant
3
31
11
C Yuen RK et al. 2017
Edit
GEN227
SEZ6L2
SEZ6L2 seizure related 6 homolog (mouse)-like 2
16p11.2
Rare Single Gene variant
2
11
7
Kumar RA , et al. 2009
Edit
GEN860
SLC7A5
solute carrier family 7 member 5
16q24.2
Functional/syndromic
2
Yes
10
6
Tafrlungeanu DC , et al. 2016
Edit
GEN871
SRCAP
Snf2 related CREBBP activator protein
16p11.2
Rare single gene variant
5
65
14
Iossifov I et al. 2014
Edit
GEN1338
SRRM2
serine/arginine repetitive matrix 2
16p13.3
Rare single gene variant
4
41
13
De Rubeis S , et al. 2014
Edit
GEN246
SYT17
synaptotagmin XVII
16p12.3
Genetic Association
2
2
Wang K , et al. 2009
Edit
GEN392
TAF1C
TATA-box binding protein associated factor, RNA polymerase I subunit C
16q24.1
Genetic association
2
3
3
Anney R , et al. 2012
Edit
GEN1006
TAOK2
TAO kinase 2
16p11.2
Rare single gene variant
4
25
8
C Yuen RK et al. 2017
Edit
GEN757
TERF2
Telomeric repeat binding factor 2
16q22.1
Rare single gene variant
3
7
8
Iossifov I et al. 2014
Edit
GEN467
TMEM231
transmembrane protein 231
16q23.1
Syndromic
2
9
5
Srour M , et al. 2012
Edit
GEN1022
TRAF7
TNF receptor associated factor 7
16p13.3
Rare single gene variant
4
68
10
Neale BM , et al. 2012
Edit
GEN1218
TRAPPC2L
trafficking protein particle complex 2 like
16q24.3
Syndromic
2
9
4
Luo Y et al. 2020
Edit
GEN256
TSC2
tuberous sclerosis 2
16p13.3
Genetic Association
5
120
56
Smalley SL 1998
Edit
GEN758
USP7
Ubiquitin specific peptidase 7 (herpes virus-associated)
16p13.2
Rare single gene variant
2
38
15
Hao YH , et al. 2015
Edit
GEN851
WWOX
WW domain containing oxidoreductase
16
Rare single gene variant
2
42
15
Leppa VM , et al. 2016
Edit
GEN1438
ZFHX3
zinc finger homeobox 3
16q22.2-q22.3
Rare single gene variant
4
71
12
et al.
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
16
16p11.2
Deletion-Duplication
139
16
16p12.1
Deletion-Duplication
20
16
16p12.1-p11.2
Duplication
4
16
16p12.1-q11.2
Deletion
1
16
16p12.1-q12.1
Deletion
1
16
16p12.2
Deletion-Duplication
25
16
16p12.2-p11.2
Duplication
15
16
16p12.3
Deletion-Duplication
19
16
16p13.11-p11.2
Duplication
1
16
16p13.12
Deletion-Duplication
14
16
16p13.13-p13.11
Deletion
1
16
16p13.2
Deletion-Duplication
42
16
16p13.2-p13.13
Deletion
4
16
16p13.3
Deletion-Duplication
68
16
16p13.3-p13.12
Duplication
3
16
16p13.3-p13.13
Deletion-Duplication
2
16
16p13.3-p13.2
Deletion
5
16
16q11.2-q12.1
Deletion-Duplication
1
16
16q12.1
Deletion-Duplication
10
16
16q12.1-q12.2
Deletion
1
16
16q12.2
Deletion-Duplication
13
16
16q13-q21
Duplication
1
16
16q13-q22.3
Duplication
1
16
16q21
Deletion-Duplication
18
16
16q21-q22.1
Deletion
3
16
16q21-q23.1
Duplication
1
16
16q21-q24.3
Duplication
1
16
16q22.1
Deletion-Duplication
23
16
16q22.1-q22.2
Deletion
3
16
16q22.1-q22.3
Duplication
4
16
16q22.1-q23.1
Deletion
1
16
16q22.1-q24.3
Duplication
2
16
16q22.2
Deletion
4
16
16q22.2-q22.3
Deletion
2
16
16q22.2-q24.1
Duplication
1
16
16q22.3
Deletion-Duplication
9
16
16q22.3-q23.1
Duplication
4
16
16q22.3-q23.3
Deletion
1
16
16q23.1
Deletion-Duplication
47
16
16q23.1-q23.2
Deletion
3
16
16q23.1-q24.2
Deletion
1
16
16q23.1-q24.3
Duplication
6
16
16q23.2
Deletion-Duplication
14
16
16q23.2-q23.3
Deletion
2
16
16q23.2-q24.1
Deletion
6
16
16q23.2-q24.3
Duplication
1
16
16q23.3
Deletion-Duplication
22
16
16q23.3-q24.1
Deletion
5
16
16q23.3-q24.2
Deletion
1
16
16q23.3-q24.3
Duplication
1
16
16q24.1
Deletion-Duplication
21
16
16q24.1-q24.2
Deletion
2
16
16q24.1-q24.3
Deletion-Duplication
3
16
16q24.2
Deletion-Duplication
10
16
16q24.2-q24.3
Deletion
12
16
16q24.3
Deletion-Duplication
34
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
Ankrd11
ankyrin repeat domain 11
Mus musculus
Unknown
Barbaric I , et al. 2007
2
3
Bckdk
branched chain ketoacid dehydrogenase kinase
Mus musculus
Joshi MA , et al. 2006
3
3
Bckdk
branched chain ketoacid dehydrogenase kinase
Rattus norvegicus
Zigler JS Jr , et al. 2016
1
1
Cacna1h
calcium channel, voltage-dependent, T type, alpha 1H subunit
Mus musculus
Unknown
Chen CC , et al. 2003
1
1
Caskin1
CASK interacting protein 1
Mus musculus
et al.
1
1
Cbln1
Cerebellin 1 precursor protein
Mus musculus
Hirai H , et al. 2005
3
7
Cntnap4
contactin associated protein-like 4
Mus musculus
Karayannis T , et al. 2014
1
7
kctd13
potassium channel tetramerization domain containing 13
Danio rerio
Golzio C , et al. 2012
4
13
CG10465
CG10465
Drosophila melanogaster
Iyer J , et al. 2018
1
11
Kctd13
potassium channel tetramerisation domain containing 13
Mus musculus
16p11.2
Escamilla CO , et al. 2017
2
6
lat
linker for activation of T cells
Danio rerio
Loviglio MN , et al. 2017
1
12
mapk3
mitogen-activated protein kinase 3
Danio rerio
Golzio C , et al. 2012
2
2
rl
rolled
Drosophila melanogaster
Park SM , et al. 2017
3
24
Prkcb
Protein Kinase C, beta
Mus musculus
Unknown
Leitges M , et al. 1996
1
1
Rbfox1
RNA binding protein, fox-1 homolog
Mus musculus
Unknown
Gehman LT , et al. 2011
2
4
Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
Mus musculus
Tafrlungeanu DC , et al. 2016
2
3
dom
domino
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Tao
Tao
Drosophila melanogaster
Iyer J , et al. 2018
1
5
Taok2
TAO kinase 2
Mus musculus
Richter M , et al. 2018
2
12
Tsc2
tuberous sclerosis 2
Mus musculus
Unknown
Onda H , et al. 1999
10
25
Tsc2
tuberous sclerosis 2
Rattus norvegicus
Unknown
Waltereit R , et al. 2005
3
3
Usp7
Ubiquitin specific peptidase 7
Mus musculus
Kon N , et al. 2009
2
3
Wwox
WW domain-containing oxidoreductase
Rattus norvegicus
Suzuki H , et al. 2007
3
1
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ABAT
4-aminobutyrate aminotransferase
11
ANKRD11
ankyrin repeat domain 11
30
BCKDK
branched chain ketoacid dehydrogenase kinase
23
CACNA1H
calcium channel, voltage-dependent, T type, alpha 1H subunit
14
CDH11
Cadherin-11
2
CDH8
cadherin 8, type 2
20
CMIP
c-Maf inducing protein
4
CNTNAP4
Contactin-associated protein-like 4
6
CREBBP
CREB binding protein
18
CTCF
CCCTC-binding factor (zinc finger protein)
54
GRIN2A
Glutamate receptor ionotropic, NMDA 2A
9
KCTD13
potassium channel tetramerisation domain containing 13
40
MAPK3
mitogen-activated protein kinase 3
31
PRKCB
protein kinase C, beta
37
RBFOX1
RNA binding protein, fox-1 homolog (C. elegans) 1
494
SEZ6L2
Seizure 6-like protein 2
7
SYT17
synaptotagmin XVII
21
TERF2
telomeric repeat binding factor 2
147
TSC2
tuberous sclerosis 2
104
USP7
ubiquitin specific peptidase 7 (herpes virus-associated)
41
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