HELP     Sign In

 

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
GEN590 ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7 19p13.3 Rare single gene variant
N
11 2 He Z , et al. 2013 Edit
GEN672 ACTN4 Actinin, alpha 4 19q13.2 Rare single gene variant
N
3 3 Li J , et al. 2015 Edit
GEN609 ANXA1 Annexin A1 9q21.13 Rare single gene variant
N
12 2 Correia CT , et al. 2014 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
N
1 2 Schuster S , et al. 2015 Edit
GEN019 ASS1 argininosuccinate synthetase 9q34.11 Functional
N
0 3 Hu VW , et al. 2006 Edit
GEN020 ASTN2 astrotactin 2 9q33.1 Rare Single Gene variant
N
28 12 Glessner JT , et al. 2009 Edit
GEN829 ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 19q13.2 Syndromic
N
13 12 Demos MK , et al. 2014 Edit
GEN970 BRD4 bromodomain containing 4 19p13.12 Rare single gene variant
N
7 4 Iossifov I , et al. 2012 Edit
GEN820 BRINP1 BMP/retinoic acid inducible neural specific 1 9q33.1 Functional
N
0 2 Kobayashi M , et al. 2014 Edit
GEN707 CACNA1A Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 19p13.13 Rare single gene variant
N
17 11 Damaj L , et al. 2015 Edit
GEN408 CACNA1B calcium voltage-gated channel subunit alpha1 B 9q34.3 Genetic association
N
18 7 Yatsenko SA , et al. 2012 Edit
GEN772 CAPN12 Calpain 12 19q13.2 Rare single gene variant
N
28 4 Sanders SJ , et al. 2015 Edit
GEN621 CC2D1A Coiled-coil and C2 domain containing 1A 19p13.12 Rare single gene variant
N
Yes 17 9 Manzini MC , et al. 2014 Edit
GEN882 CIC capicua transcriptional repressor 19q13.2 Rare single gene variant
N
9 4 Iossifov I , et al. 2014 Edit
GEN866 CNOT3 CCR4-NOT transcription complex subunit 3 19q13.42 Rare single gene variant
N
9 3 Deciphering Developmental Disorders Study 2017 Edit
GEN307 CNTNAP3 contactin associated protein-like 3 9p12 Rare Single Gene variant
N
2 2 Vaags AK , et al. 2012 Edit
GEN801 CYLC2 cylicin, basic protein of sperm head cytoskeleton 2 9q31.1 Rare single gene variant
N
2 3 Levy D , et al. 2011 Edit
GEN058 DAPK1 death-associated protein kinase 1 9q21.33 Functional
N
4 5 Hu VW , et al. 2006 Edit
GEN071 DMPK dystrophia myotonica-protein kinase 19q13.32 Syndromic
N
3 7 Ekstrm AB , et al. 2008 Edit
GEN853 DOCK8 dedicator of cytokinesis 8 9p24.3 Rare single gene variant
N
14 6 De Rubeis S , et al. 2014 Edit
GEN557 DOLK Dolichol kinase 9q34.11 Syndromic
N
Yes 1 1 Helander A , et al. 2013 Edit
GEN344 EHMT1 Euchromatic histone-lysine N-methyltransferase 1 9q34.3 Syndromic
N
21 20 Talkowski ME , et al. 2012 Edit
GEN808 EIF3G eukaryotic translation initiation factor 3 subunit G 19p13.2 Rare single gene variant
N
2 3 Iossifov I , et al. 2012 Edit
GEN826 ELAVL2 ELAV like neuron-specific RNA binding protein 2 9p21.3 Rare single gene variant
N
5 5 Iossifov I , et al. 2014 Edit
GEN753 ELAVL3 ELAV like neuron-specific RNA binding protein 3 19p13.2 Rare single gene variant
N
2 3 Iossifov I , et al. 2014 Edit
GEN658 ETFB Electron-transfer-flavoprotein, beta polypeptide 19q13.41 Rare single gene variant
N
10 3 O'Roak BJ , et al. 2012 Edit
GEN1010 GABBR2 gamma-aminobutyric acid type B receptor subunit 2 9q22.33 Functional
N
9 10 EuroEPINOMICS-RES Consortium , et al. 2014 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
N
1 4 Garbett K , et al. 2008 Edit
GEN682 GDA Guanine deaminase 9q21.13 Rare single gene variant
N
2 2 Li J , et al. 2015 Edit
GEN347 GNA14 Guanine nucleotide binding protein (G protein), alpha 14 9q21.2 Rare Single Gene variant
N
1 1 Talkowski ME , et al. 2012 Edit
GEN722 GRIK5 Glutamate receptor, ionotropic, kainate 5 19q13.2 Rare single gene variant
N
4 6 De Rubeis S , et al. 2014 Edit
GEN626 GRIN1 Glutamate receptor, ionotropic, N-methyl D-aspartate 1 9q34.3 Functional
N
Yes 45 14 Gandal MJ , et al. 2012 Edit
GEN387 GSN Gelsolin 9q33.2 Rare single gene variant
N
1 1 Awadalla P , et al. 2010 Edit
GEN530 KANK1 KN motif and ankyrin repeat domains 1 9p24.3 Rare single gene variant
N
13 7 Vanzo RJ , et al. 2013 Edit
GEN434 KCNT1 potassium sodium-activated channel subfamily T member 1 9q34.3 Rare single gene variant
N
23 10 Heron SE , et al. 2012 Edit
GEN819 KDM4B lysine demethylase 4B 19p13.3 Rare single gene variant
N
10 3 De Rubeis S , et al. 2014 Edit
GEN920 KLF16 Kruppel like factor 16 19p13.3 Rare single gene variant
N
2 1 Lim ET , et al. 2017 Edit
GEN586 KPTN kaptin, actin binding protein 19q13.32 Syndromic
N
6 3 Baple EL , et al. 2013 Edit
GEN144 LAMC3 laminin, gamma 3 9q34.12 Rare Single Gene variant
N
19 8 O'Roak BJ , et al. 2011 Edit
GEN968 LILRB2 leukocyte immunoglobulin like receptor B2 19q13.42 Rare single gene variant
N
7 2 Krumm N , et al. 2015 Edit
GEN632 LIN7B lin-7 homolog B, crumbs cell polarity complex component 19q13.33 Multigenic CNV/rare single gene variant
N
2 1 Mizuno M , et al. 2014 Edit
GEN272 LMX1B LIM homeobox transcription factor 1, beta 9q33.3 Genetic association/Functional
N
2 1 Thanseem I , et al. 2011 Edit
GEN153 MBD3 methyl-CpG binding domain protein 3 19p13.3 Rare Single Gene variant, Genetic Association
N
18 4 Cukier HN , et al. 2009 Edit
GEN846 MBOAT7 membrane bound O-acyltransferase domain containing 7 19q13.42 Rare single gene variant
N
Yes 7 2 Johansen A , et al. 2016 Edit
GEN661 MYO9B Myosin IXB 19p13.11 Rare single gene variant
N
27 2 De Rubeis S , et al. 2014 Edit
GEN868 NACC1 nucleus accumbens associated 1 19p13.13 Rare single gene variant
N
9 3 Schoch K , et al. 2017 Edit
GEN805 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.13 Syndromic
N
13 6 Malan V , et al. 2010 Edit
GEN1009 NR1H2 nuclear receptor subfamily 1 group H member 2 19q13.33 Functional
N
0 1 Cai Y , et al. 2018 Edit
GEN986 NTRK2 neurotrophic receptor tyrosine kinase 2 9q21.33 Syndromic
N
12 3 Hamdan FF , et al. 2017 Edit
GEN183 ODF3L2 outer dense fiber of sperm tails 3-like 2 19p13.3 Rare Single Gene variant
N
11 1 Bucan M , et al. 2009 Edit
GEN667 PAX5 Paired box 5 9p13.2 Rare Single Gene variant
N
3 4 Iossifov I , et al. 2012 Edit
GEN311 PDE4A phosphodiesterase 4A, cAMP-specific 19p13.2 Functional
N
1 2 Braun NN , et al. 2007 Edit
GEN859 PGLYRP2 peptidoglycan recognition protein 2 19p13.12 Rare single gene variant
N
2 3 Arentsen T , et al. 2016 Edit
GEN651 PHF2 PHD finger protein 2 9q22.31 Rare single gene variant
N
6 5 Iossifov I , et al. 2012 Edit
GEN552 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 19p13.11 Syndromic
N
6 4 Rivire JB , et al. 2012 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
N
1 1 Campbell DB , et al. 2009 Edit
GEN1015 PNPLA7 patatin like phospholipase domain containing 7 9q34.3 Rare single gene variant
N
5 3 O'Roak BJ , et al. 2012 Edit
GEN942 POMT1 protein O-mannosyltransferase 1 9q34.13 Rare single gene variant
N
13 2 Krumm N , et al. 2015 Edit
GEN1008 PRR12 proline rich 12 19q13.33 Syndromic
N
4 2 Leduc MS , et al. 2018 Edit
GEN310 PRUNE2 prune homolog 2 9q21.2 Rare Single Gene variant
N
6 6 Vaags AK , et al. 2012 Edit
GEN940 RFX3 regulatory factor X3 9p24.2 Rare single gene variant
N
5 5 De Rubeis S , et al. 2014 Edit
GEN960 RNF38 ring finger protein 38 9p13.2 Rare single gene variant
N
2 2 Sanders SJ , et al. 2012 Edit
GEN503 SAE1 SUMO1 activating enzyme subunit 1 19q13.32 Rare single gene variant
N
6 3 Prasad A , et al. 2013 Edit
GEN340 SHANK1 SH3 and multiple ankyrin repeat domains 1 19q13.33 Rare Single Gene variant
N
35 5 Sato D , et al. 2012 Edit
GEN231 SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 9p24.2 Genetic association
N
13 11 Brune CW , et al. 2009 Edit
GEN506 SLC24A2 solute carrier family 24 member 2 9p22.1 Rare single gene variant
N
2 3 Prasad A , et al. 2013 Edit
GEN784 SLC27A4 Solute carrier family 27 (fatty acid transporter), member 4 9q34.11 Rare single gene variant, genetic association
N
3 1 Maekawa M , et al. 2015 Edit
GEN731 SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 9p24.3 Genetic association/functional
N
18 14 Wolff D , et al. 2012 Edit
GEN923 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 Syndromic
N
10 6 De Rubeis S , et al. 2014 Edit
GEN390 STXBP1 Syntaxin binding protein 1 9q34.11 Syndromic
N
133 32 Campbell IM , et al. 2012 Edit
GEN341 SYT3 synaptotagmin III 19q13.33 Rare Single Gene variant
N
1 1 Sato D , et al. 2012 Edit
GEN247 TAF1L TAF1 RNA polymerase II 9p21.1 Rare Single Gene variant
N
1 3 O'Roak BJ , et al. 2011 Edit
GEN696 THAP8 THAP domain containing 8 19q13.12 Rare single gene variant
N
1 1 Li J , et al. 2015 Edit
GEN255 TSC1 tuberous sclerosis 1 9q34.13 Rare Single Gene variant
N
33 17 Smalley SL 1998 Edit
GEN850 TSHZ3 teashirt zinc finger homeobox 3 19 Rare single gene variant
N
7 2 Caubit X , et al. 2016 Edit
GEN869 UNC13A unc-13 homolog A 19p13.11 Rare single gene variant
N
5 5 Lipstein N , et al. 2017 Edit
GEN787 VLDLR Very low density lipoprotein receptor 9p24.2 Functional
N
0 3 Fatemi SH , et al. 2005 Edit
GEN978 VRK3 vaccinia related kinase 3 19q13.33 Functional
N
0 1 Kang MS , et al. 2017 Edit
GEN875 ZC3H4 zinc finger CCCH-type containing 4 19q13.32 Rare single gene variant
N
4 3 Iossifov I , et al. 2014 Edit
GEN729 ZNF462 Zinc finger protein 462 9q31.2 Rare single gene variant
N
11 7 De Rubeis S , et al. 2014 Edit
GEN965 ZNF548 zinc finger protein 548 19q13.43 Rare single gene variant
N
9 2 Krumm N , et al. 2015 Edit
GEN773 ZNF559 Zinc finger protein 559 19p13.2 Rare single gene variant
N
18 3 Sanders SJ , et al. 2015 Edit
GEN944 ZNF626 zinc finger protein 626 19p12 Rare single gene variant
N
26 2 Krumm N , et al. 2015 Edit
GEN486 ZNF8 Zinc finger protein 8 19q13.43 Rare single gene variant
N
Yes 1 1 Morrow EM , et al. 2008 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
19
Deletion-Duplication
 24
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 15
 
 
19
Duplication
 1
 
 
19
Deletion
 3
 
 
19
Duplication
 1
 
 
19
Deletion
 4
 
 
19
Duplication
 1
 
 
19
Deletion
 2
 
 
19
Deletion
 1
 
 
19
Deletion-Duplication
 23
 
 
19
Duplication
 2
 
 
19
Deletion-Duplication
 5
 
 
19
Deletion-Duplication
 3
 
 
19
Deletion-Duplication
 27
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 9
 
 
19
Deletion-Duplication
 11
 
 
19
Duplication
 2
 
 
19
Deletion
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 17
 
 
19
Deletion
 4
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 2
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 15
 
 
19
Duplication
 1
 
 
19
Duplication
 3
 
 
19
Deletion-Duplication
 19
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 3
 
 
9
Duplication
 1
 
 
9
Duplication
 7
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 12
 
 
9
Duplication
 8
 
 
9
Deletion
 1
 
 
9
Deletion
 2
 
 
9
N/A
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 2
 
 
9
Deletion-Duplication
 13
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 25
 
 
9
Duplication
 5
 
 
9
Duplication
 3
 
 
9
Duplication
 1
 
 
9
Duplication
 3
 
 
9
Deletion
 2
 
 
9
N/A
 3
 
 
9
Deletion
 5
 
 
9
Deletion
 4
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 2
 
 
9
Duplication
 1
 
 
9
Deletion
 2
 
 
9
Deletion
 4
 
 
9
Deletion
 2
 
 
9
Deletion
 3
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion
 1
 
 
9
Deletion
 2
 
 
9
N/A
 2
 
 
9
Deletion
 5
 
 
9
Deletion-Duplication
 7
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 3
 
 
9
Deletion-Duplication
 1
 
 
9
Duplication
 1
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 6
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 19
 
 
9
N/A
 1
 
 
9
Deletion-Duplication
 8
 
 
9
Deletion-Duplication
 21
 
 
9
Deletion-Duplication
 16
 
 
9
Deletion
 1
 
 
9
Deletion-Duplication
 10
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 5
 
 
9
Deletion
 3
 
 
9
Duplication
 1
 
 
9
Deletion-Duplication
 12
 
 
9
Deletion
 1
 
 
9
Deletion
 1
 
 
9
Duplication
 1
 
 
9
Deletion
 3
 
 
9
Deletion-Duplication
 9
 
 
9
N/A
 2
 
 
9
Duplication
 2
 
 
9
Deletion-Duplication
 8
 
 
9
Deletion-Duplication
 36
 
 
9
Deletion
 1
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
 Rho GTPase activating protein 33
 Mus musculus
 
 1
 6
 
  Atp1a3
 Sodium potassium ATPase alpha 3 subunit
 Mus musculus
 Unknown
 1
 2
 
  Brinp1
 BMP/RA-inducible neural-specific protein 1
 Mus musculus
 Unknown
 1
 3
 
  cac
 cacophony
 Drosophila melanogaster
 
 1
 4
 
  Cc2d1a
 Coiled-coil and C2 domain containing 1A
 Mus musculus
 
 1
 5
 
  Cic
 capicua transcriptional repressor
 Mus musculus
 19q13.2
 1
 8
 
  Dmpk
 dystrophia myotonica-protein kinase
 Mus musculus
 Unknown
 1
 2
 
  G9a
 G9a
 Drosophila melanogaster
 
 2
 14
 
 growth arrest and DNA-damage-inducible 45 beta
 Mus musculus
 
 1
 1
 
 growth arrest and DNA-damage-inducible, beta
 Rattus norvegicus
 
 1
 1
 
  Grin1
 glutamate receptor, ionotropic, NMDA1 (zeta 1)
 Mus musculus
 
 3
 7
 
  LanB2
 Laminin B2
 Drosophila melanogaster
 
 1
 2
 
  Mbd3
 methyl-CpG binding domain protein 3
 Mus musculus
 Unknown
 1
 1
 
 peptidoglycan recognition protein 2
 Mus musculus
 
 1
 1
 
  Plaur
 plasminogen activator, urokinase receptor
 Mus musculus
 Unknown
 1
 1
 
  Shank1
 SH3/ankyrin domain gene 1
 Mus musculus
 Unknown
 3
 2
 
  Stxbp1
 syntaxin binding protein 1
 Mus musculus
 Human 9q34.11
 1
 6
 
  Tsc1
 Tsc1
 Drosophila melanogaster
 
 2
 11
 
  Tsc1
 Tuberous sclerosis 1
 Mus musculus
 Unknown
 10
 27
 
  Tshz3
 Teashirt zinc finger family member 3
 Mus musculus
 
 1
 2
 
  Vldlr
 very low density lipoprotein receptor
 Rattus norvegicus
 Unknown
 1
 1
 
  Vrk3
 vaccinia related kinase 3
 Mus musculus
 19q13.33
 1
 5

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
actinin, alpha 4
8
annexin A1
55
Rho GTPase-activating protein 33
5
astrotactin 2
4
ATPase Na+/K+ transporting subunit alpha 3
9
coiled-coil and C2 domain containing 1A
13
death-associated protein kinase 1
4
dystrophia myotonica-protein kinase
18
euchromatic histone-lysine N-methyltransferase 1
5013
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
167
Growth arrest and DNA damage-inducible protein GADD45 beta
17
glutamate receptor, ionotropic, N-methyl D-aspartate 1
65
potassium channel, subfamily T, member 1
3
kaptin (actin binding protein)
30
LIM homeobox transcription factor 1, beta
27
methyl-CpG binding domain protein 3
47
outer dense fiber of sperm tails 3-like 2
6
PHD finger protein 2
5
plasminogen activator, urokinase receptor
108
SH3 and multiple ankyrin repeat domains 1
20
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
38
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
24
synaptotagmin III
19
tuberous sclerosis 1
118
HELP
Copyright © 2017 MindSpec, Inc.