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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
GEN268 ABAT 4-aminobutyrate aminotransferase 16p13.2 Genetic Association
0
2 4 Barnby G , et al. 2005 Edit
GEN567 ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif 18 16q23.1 Rare single gene variant
3
Yes 3 4 Peluso I , et al. 2013 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
4
62 40 Marshall CR , et al. 2008 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
4
Yes 5 3 Novarino G , et al. 2012 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
3
22 21 Splawski I , et al. 2006 Edit
GEN897 CBLN1 cerebellin 1 precursor 16q12.1 Functional
0
1 6 Krishnan V , et al. 2017 Edit
GEN615 CDH11 cadherin 11 16q21 Rare Single Gene variant/genetic association
2
8 3 Crepel A , et al. 2014 Edit
GEN044 CDH8 cadherin 8, type 2 16q21 Rare Single Gene variant
2
8 9 Pagnamenta AT , et al. 2010 Edit
GEN949 CHMP1A charged multivesicular body protein 1A 16q24.3 Syndromic
3
8 5 De Rubeis S , et al. 2014 Edit
GEN048 CHST5 carbohydrate sulfotransferase 5 16q23.1 Rare Single Gene variant
2
1 5 O'Roak BJ , et al. 2011 Edit
GEN382 CMIP c-Maf inducing protein 16q23.2-q23.3 Genetic Association
0
20 6 Van der Aa N , et al. 2012 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
3
19 11 Karayannis T , et al. 2014 Edit
GEN285 CREBBP CREB binding protein 16p13.3 Syndromic
3
82 21 Barnby G , et al. 2005 Edit
GEN549 CTCF CCCTC-binding factor 16q22.1 Functional
3
14 12 Ishihara K , et al. 2006 Edit
GEN059 DCTN5 dynactin 5 16p12.2 Rare Single Gene variant
2
1 3 O'Roak BJ , et al. 2011 Edit
GEN966 DNAH3 dynein axonemal heavy chain 3 16p12.3 Rare single gene variant
4
127 3 Krumm N , et al. 2015 Edit
GEN720 FAM92B Family with sequence similarity 92, member B 16q24.1 Rare single gene variant
2
3 3 Krumm N , et al. 2015 Edit
GEN383 GAN Gigaxonin 16q23.2 Rare single gene variant
0
1 1 Van der Aa N , et al. 2012 Edit
GEN107 GPR139 G protein-coupled receptor 139 16p12.3 Rare Single Gene variant
2
1 5 O'Roak BJ , et al. 2011 Edit
GEN110 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 Genetic Association
2
102 35 Barnby G , et al. 2005 Edit
GEN514 HYDIN HYDIN, axonemal central pair apparatus protein 16q22.2 Multigenic CNV
2
5 3 Girirajan S , et al. 2013 Edit
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
2
4 6 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
2
4 4 Schaaf CP , et al. 2011 Edit
GEN201 PRKCB protein kinase C beta 16p12.2-p12.1 Genetic Association
2
5 6 Philippi A , et al. 2005 Edit
GEN001 RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 16p13.3 Genetic Association
2
71 32 Sebat J , et al. 2007 Edit
GEN521 RNPS1 RNA binding protein with serine rich domain 1 16p13.3 Multigenic CNV
2
1 1 Nguyen LS , et al. 2013 Edit
GEN227 SEZ6L2 SEZ6L2 seizure related 6 homolog (mouse)-like 2 16p11.2 Rare Single Gene variant
2
6 6 Kumar RA , et al. 2009 Edit
GEN860 SLC7A5 solute carrier family 7 member 5 16q24.2 Functional/syndromic
4
Yes 2 1 Tafrlungeanu DC , et al. 2016 Edit
GEN871 SRCAP Snf2 related CREBBP activator protein 16p11.2 Rare single gene variant
4
7 5 Iossifov I , et al. 2014 Edit
GEN246 SYT17 synaptotagmin XVII 16p12.3 Genetic Association
2
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
0
2 2 Anney R , et al. 2012 Edit
GEN1006 TAOK2 TAO kinase 2 16p11.2 Rare single gene variant
4
25 5 C Yuen RK , et al. 2017 Edit
GEN757 TERF2 Telomeric repeat binding factor 2 16q22.1 Rare single gene variant
2
2 3 Iossifov I , et al. 2014 Edit
GEN467 TMEM231 Transmembrane protein 231 16q23.1 Syndromic
0
5 2 Srour M , et al. 2012 Edit
GEN1022 TRAF7 TNF receptor associated factor 7 16p13.3 Rare single gene variant
3
9 3 Neale BM , et al. 2012 Edit
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
5
74 27 Smalley SL 1998 Edit
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
3
13 6 Hao YH , et al. 2015 Edit
GEN851 WWOX WW domain containing oxidoreductase 16 Rare single gene variant
3
24 8 Leppa VM , et al. 2016 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
16
Deletion-Duplication
 5
 
 
16
Deletion-Duplication
 100
  construct
 
16
Duplication
 5
 
 
16
Deletion-Duplication
 19
 
 
16
Duplication
 3
 
 
16
Deletion
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 24
 
 
16
Duplication
 10
 
 
16
Duplication
 7
 
 
16
Deletion-Duplication
 16
 
 
16
Duplication
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 47
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 18
 
 
16
Deletion-Duplication
 14
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 6
 
 
16
Deletion-Duplication
 5
 
 
16
Deletion
 1
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 34
 
 
16
Deletion
 3
 
 
16
Deletion-Duplication
 45
 
 
16
Duplication
 1
 
 
16
Duplication
 2
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion
 5
 
 
16
Deletion-Duplication
 3
 
 
16
Deletion-Duplication
 1
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 13
 
 
16
Duplication
 2
 
 
16
Deletion-Duplication
 4
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 15
 
 
16
Deletion
 3
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 21
 
 
16
Deletion
 2
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 8
 
 
16
Duplication
 2
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 35
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 2
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 1
 
 
16
Deletion
 6
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 20
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 18
 
 
16
Deletion
 2
 
 
16
Deletion-Duplication
 3
 
 
16
Deletion-Duplication
 9
 
 
16
Deletion
 9
 
 
16
Deletion-Duplication
 23
 
 
16
Duplication
 1
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
 ankyrin repeat domain 11
 Mus musculus
 Unknown
 2
 3
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Mus musculus
 
 3
 3
 
  Bckdk
 branched chain ketoacid dehydrogenase kinase
 Rattus norvegicus
 
 1
 1
 
 calcium channel, voltage-dependent, T type, alpha 1H subunit
 Mus musculus
 Unknown
 1
 1
 
  Cbln1
 Cerebellin 1 precursor protein
 Mus musculus
 
 3
 7
 
 contactin associated protein-like 4
 Mus musculus
 
 1
 7
 
  kctd13
 potassium channel tetramerization domain containing 13
 Danio rerio
 
 4
 13
 
 CG10465
 Drosophila melanogaster
 
 1
 11
 
  Kctd13
 potassium channel tetramerisation domain containing 13
 Mus musculus
 16p11.2
 1
 2
 
  lat
 linker for activation of T cells
 Danio rerio
 
 1
 12
 
  mapk3
 mitogen-activated protein kinase 3
 Danio rerio
 
 2
 2
 
  rl
 rolled
 Drosophila melanogaster
 
 3
 24
 
  Prkcb
 Protein Kinase C, beta
 Mus musculus
 Unknown
 1
 1
 
  Rbfox1
 RNA binding protein, fox-1 homolog
 Mus musculus
 Unknown
 1
 2
 
  Slc7a5
 solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
 Mus musculus
 
 1
 2
 
  dom
 domino
 Drosophila melanogaster
 
 1
 1
 
  Tao
 Tao
 Drosophila melanogaster
 
 1
 5
 
  Taok2
 TAO kinase 2
 Mus musculus
 
 1
 5
 
  Tsc2
 tuberous sclerosis 2
 Mus musculus
 Unknown
 7
 15
 
  Tsc2
 tuberous sclerosis 2
 Rattus norvegicus
 Unknown
 3
 3
 
  Usp7
 Ubiquitin specific peptidase 7
 Mus musculus
 
 1
 1
 
  Wwox
 WW domain-containing oxidoreductase
 Rattus norvegicus
 
 3
 1

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
4-aminobutyrate aminotransferase
11
ankyrin repeat domain 11
30
branched chain ketoacid dehydrogenase kinase
23
calcium channel, voltage-dependent, T type, alpha 1H subunit
14
Cadherin-11
2
cadherin 8, type 2
20
c-Maf inducing protein
4
Contactin-associated protein-like 4
6
CREB binding protein
18
CCCTC-binding factor (zinc finger protein)
54
Glutamate receptor ionotropic, NMDA 2A
9
potassium channel tetramerisation domain containing 13
40
mitogen-activated protein kinase 3
31
protein kinase C, beta
37
protein kinase C, beta
35
RNA binding protein, fox-1 homolog (C. elegans) 1
494
Seizure 6-like protein 2
7
synaptotagmin XVII
21
telomeric repeat binding factor 2
147
tuberous sclerosis 2
104
ubiquitin specific peptidase 7 (herpes virus-associated)
41
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