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
GEN587 ANK2 Ankyrin 2, neuronal 4q25-q26 Rare Single Gene variant
5
69 12 Iossifov I , et al. 2012 Edit
GEN424 ARHGAP24 Rho GTPase activating protein 24 4q21.23-q21.3 Rare single gene variant
0
1 1 Winiowiecka-Kowalnik B , et al. 2012 Edit
GEN1002 ARHGAP5 Rho GTPase activating protein 5 14q12 Rare single gene variant
3
2 3 Iossifov I , et al. 2014 Edit
GEN831 ATP8A1 ATPase phospholipid transporting 8A1 4p13 Rare single gene variant
2
1 2 Kerr DJ , et al. 2016 Edit
GEN902 BST1 bone marrow stromal cell antigen 1 4p15.32 Multigenic CNV
0
4 5 Yokoyama S , et al. 2015 Edit
GEN735 CCDC88C Coiled-coil domain containing 88C 14q32.11-q32.12 Rare single gene variant
3
6 5 Krumm N , et al. 2015 Edit
GEN1035 CCNK cyclin K 14q32.2 Syndromic
0
4 2 Fan Y , et al. 2018 Edit
GEN328 CD38 CD38 molecule 4p15.32 Genetic Association
2
11 7 Munesue T , et al. 2010 Edit
GEN657 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 14q32.32 Rare single gene variant
3
19 6 O'Roak BJ , et al. 2012 Edit
GEN958 CEP135 centrosomal protein 135 4q12 Syndromic
3
29 6 De Rubeis S , et al. 2014 Edit
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Rare Single Gene variant
5
84 30 O'Roak BJ , et al. 2012 Edit
GEN494 DAPP1 Dual adaptor of phosphotyrosine and 3-phosphoinositides 4q23 Rare single gene variant
2
2 1 Prasad A , et al. 2013 Edit
GEN888 DYNC1H1 dynein cytoplasmic 1 heavy chain 1 14q32.31 Rare single gene variant
3
14 12 De Rubeis S , et al. 2014 Edit
GEN077 EIF4E eukaryotic translation initiation factor 4E 4q23 Rare single gene variant
2
8 12 Neves-Pereira M , et al. 2009 Edit
GEN282 EML1 echinoderm microtubule associated protein like 1 14q32.2 Rare Single Gene variant
2
6 2 Schaaf CP , et al. 2011 Edit
GEN083 ESR2 estrogen receptor 2 (ER beta) 14q23.2-q23.3 Syndromic
2
4 8 Chakrabarti B , et al. 2009 Edit
GEN084 ESRRB estrogen-related receptor beta 14q24.3 Genetic Association
2
3 7 Wang K , et al. 2009 Edit
GEN680 EXOC5 exocyst complex component 5 14q22.3 Rare single gene variant
2
2 2 Li J , et al. 2015 Edit
GEN338 FAT1 FAT atypical cadherin 1 4q35.2 Rare Single Gene variant
3
7 4 Neale BM , et al. 2012 Edit
GEN088 FBXO33 F-box protein 33 14q21.1 Genetic Association
2
2 3 Wang K , et al. 2009 Edit
GEN585 FGA Fibrinogen alpha chain 4q31.3 Genetic association
0
2 1 Ro M , et al. 2013 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
3
65 24 Kortm F , et al. 2011 Edit
GEN099 GABRA4 gamma-aminobutyric acid (GABA) A receptor, alpha 4 4p12 Genetic Association
2
9 6 Ma DQ , et al. 2005 Edit
GEN100 GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1 4p12 Genetic Association
2
6 6 Ma DQ , et al. 2005 Edit
GEN505 GPHN Gephyrin 14q23.3 Rare single gene variant
2
13 8 Prasad A , et al. 2013 Edit
GEN283 GRID2 glutamate receptor, ionotropic, delta 2 4q22.1-q22.2 Rare Single Gene variant
2
23 9 Schaaf CP , et al. 2011 Edit
GEN993 H2AFZ H2A histone family member Z 4q23 Genetic association
0
2 3 Shen T , et al. 2018 Edit
GEN763 IRF2BPL Interferon regulatory factor 2 binding protein-like 14q24.3 Rare single gene variant
3
20 5 Sanders SJ , et al. 2015 Edit
GEN790 JAKMIP1 Janus kinase and microtubule interacting protein 1 4p16.1 Functional
2
5 8 Berg JM , et al. 2015 Edit
GEN522 KIT KIT proto-oncogene receptor tyrosine kinase 4q12 Syndromic
0
1 1 Kilsby AJ , et al. 2013 Edit
GEN802 LRBA LPS-responsive vesicle trafficking, beach and anchor containing 4q31.3 Rare single gene variant
3
14 5 Gai X , et al. 2011 Edit
GEN145 LRFN5 leucine rich repeat and fibronectin type III domain containing 5 14q21.1 Genetic Association
3
6 6 Wang K , et al. 2009 Edit
GEN690 LRP2BP LRP2 binding protein 4q35.1 Rare single gene variant
0
1 1 Li J , et al. 2015 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
3
18 7 Bucan M , et al. 2009 Edit
GEN662 NAA15 N(alpha)-acetyltransferase 15, NatA auxiliary subunit 4q31.1 Rare single gene variant
5
48 9 De Rubeis S , et al. 2014 Edit
GEN663 NR3C2 Nuclear receptor subfamily 3, group C, member 2 4q31.23 Rare single gene variant
3
9 3 De Rubeis S , et al. 2014 Edit
GEN305 NRXN3 neurexin 3 14q24.3-q31.1 Rare Single Gene variant
3
24 17 Vaags AK , et al. 2012 Edit
GEN1012 PACS2 phosphofurin acidic cluster sorting protein 2 14q32.33 Rare single gene variant
4
15 2 Olson HE , et al. 2018 Edit
GEN189 PCDH10 protocadherin 10 4q28.3 Rare Single Gene variant
2
4 8 Morrow EM , et al. 2008 Edit
GEN457 PRKD1 Protein kinase D1 14q12 Syndromic
2
6 4 Ellaway CJ , et al. 2012 Edit
GEN953 PRPF39 pre-mRNA processing factor 39 14q21.2 Rare single gene variant
3
4 3 De Rubeis S , et al. 2014 Edit
GEN222 SCFD2 sec1 family domain containing 2 4q12 Rare Single Gene variant
0
4 2 Pinto D , et al. 2010 Edit
GEN957 SLC7A7 solute carrier family 7 member 7 14q11.2 Rare single gene variant
2
3 2 O'Roak BJ , et al. 2012 Edit
GEN793 SPARCL1 SPARC like 1 4q22.1 Functional
3
13 3 De Rubeis S , et al. 2014 Edit
GEN249 TDO2 tryptophan 2,3-dioxygenase 4q32.1 Genetic Association
0
5 4 Nabi R , et al. 2004 Edit
GEN728 TET2 Tet methylcytosine dioxygenase 2 4q24 Rare single gene variant
3
4 4 Iossifov I , et al. 2014 Edit
GEN295 TNIP2 TNFAIP3 interacting protein 2 4p16.3 Rare Single Gene variant
0
1 1 Salyakina D , et al. 2011 Edit
GEN914 TRAPPC6B trafficking protein particle complex 6B 14q21.1 Rare single gene variant
0
4 2 Marin-Valencia I , et al. 2017 Edit
GEN546 UBA6 Ubiquitin-like modifier activating enzyme 6 4q13.2 Functional
0 2 Lee PC , et al. 2013 Edit
GEN275 UBR7 ubiquitin protein ligase E3 component n-recognin 7 (putative) 14q32.12 Rare Single Gene variant
2
Yes 1 1 Najmabadi H , et al. 2011 Edit
GEN976 UNC79 unc-79 homolog, NALCN channel complex subunit 14q32.12 Rare single gene variant
3
2 2 Iossifov I , et al. 2014 Edit
GEN263 VASH1 vasohibin 1 14q24.3 Genetic Association
2
2 4 Wang K , et al. 2009 Edit
GEN635 WDFY3 WD repeat and FYVE domain containing 3 4q21.23 Rare Single Gene variant
5
37 12 Iossifov I , et al. 2012 Edit
GEN910 YY1 YY1transcription factor 14q32.2 Functional
3
23 3 Gabriele M , et al. 2017 Edit
GEN398 ZNF827 Zinc finger protein 827 4q31.21-q31.22 Genetic association
0
1 1 Anney R , et al. 2012 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 43
 
 
14
Duplication
 4
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 20
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 12
 
 
14
Deletion-Duplication
 11
 
 
14
Deletion-Duplication
 6
 
 
14
Deletion-Duplication
 13
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 16
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 18
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 7
 
 
14
Duplication
 1
 
 
14
Deletion
 14
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 18
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 11
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 4
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 30
 
 
4
Duplication
 3
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 7
 
 
4
Deletion
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 24
 
 
4
Deletion
 9
 
 
4
Deletion-Duplication
 34
 
 
4
Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion-Duplication
 1
 
 
4
Duplication
 2
 
 
4
Deletion
 2
 
 
4
Deletion
 1
 
 
4
Duplication
 9
 
 
4
Duplication
 4
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 24
 
 
4
Duplication
 3
 
 
4
Deletion
 1
 
 
4
Duplication
 4
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 30
 
 
4
Deletion-Duplication
 3
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion
 5
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 20
 
 
4
Duplication
 3
 
 
4
Deletion-Duplication
 10
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 12
 
 
4
Deletion-Duplication
 16
 
 
4
Duplication
 6
 
 
4
Deletion-Duplication
 10
 
 
4
Deletion
 1
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 19
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 6
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 5
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 6
 
 
4
Duplication
 1
 
 
4
Duplication
 1
 
 
4
Deletion-Duplication
 14
 
 
4
Deletion
 1
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 17
 
 
4
Deletion
 1
 
 
4
Duplication
 3
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion-Duplication
 2
 
 
4
Duplication
 4
 
 
4
Deletion
 1
 
 
4
Deletion-Duplication
 1
 
 
4
Deletion-Duplication
 13
 
 
4
Deletion-Duplication
 9
 
 
4
Deletion-Duplication
 42
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Ank2
 ankyrin 2, brain
 Mus musculus
 
 1
 2
 
  Atp8a1
 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
 Mus musculus
 Chromosome 4 (human)
 1
 2
 
  Cd38
 CD38 antigen
 Mus musculus
 Unknown
 2
 1
 
  chd8
 chromodomain helicase DNA binding protein 8
 Danio rerio
 
 2
 22
 
  kis
 kismet
 Drosophila melanogaster
 
 2
 37
 
  Chd8
 chromodomain helicase DNA binding protein 8
 Mus musculus
 
 8
 22
 
  Eif4e
 Eukaryotic translation initiation factor 4E
 Mus musculus
 4q23
 1
 2
 
  Esr2
 estrogen receptor 2
 Rattus norvegicus
 
 1
 1
 
  Esrrb
 Estrogen related receptor, beta
 Mus musculus
 Unknown
 1
 2
 
  Foxg1
 Forkhead box G1
 Mus musculus
 Unknown
 1
 1
 
  Grid2
 glutamate receptor, ionotropic, delta 2
 Mus musculus
 
 1
 2
 
 janus kinase and microtubule interacting protein 1
 Mus musculus
 syntenic with part of mouse chromosome 5,
 1
 1
 
  Mdga2
 MAM domain containing glycosylphosphatidylinositol anchor 2
 Mus musculus
 
 1
 2
 
  NAT1
 NAT1
 Drosophila melanogaster
 
 1
 2
 
  Nr3c2
 nuclear receptor subfamily 3, group C, member 2
 Mus musculus
 Unknown
 2
 2
 
  Pcdh10
 protocadherin 10
 Mus musculus
 Unknown
 2
 3
 
 trafficking protein particle complex 6b
 Danio rerio
 
 1
 8
 
  Uba6
 ubiquitin-like modifier activating enzyme 6
 Mus musculus
 
 1
 1
 
  bchs
 blue cheese
 Drosophila melanogaster
 
 2
 4
 
  Wdfy3
 WD repeat and FYVE domain containing 3
 Mus musculus
 Unknown
 1
 4

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
ankyrin 2, neuronal
36
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
4
CDC42 binding protein kinase beta (DMPK-like)
8
chromodomain helicase DNA binding protein 8
4376
eukaryotic translation initiation factor 4E
44
echinoderm microtubule associated protein like 1
11
estrogen receptor 2 (ER beta)
11
exocyst complex component 5
42
FAT tumor suppressor homolog 1 (Drosophila)
79
F-box protein 33
8
forkhead box G1
34
Gamma-aminobutyric acid receptor subunit alpha-4
8
gamma-aminobutyric acid (GABA) A receptor, beta 1
6
gephyrin
45
glutamate receptor, ionotropic, delta 2
17
Janus kinase and microtubule-interacting protein 1
43
MAM domain containing glycosylphosphatidylinositol anchor 2
1
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
14
neurexin 3
34
protocadherin 10
10
SPARC-like 1 (hevin)
5
tryptophan 2,3-dioxygenase
23
vasohibin 1
7
WD repeat and FYVE domain containing 3
37
zinc finger protein 827
1
Leucine-rich repeat and fibronectin type-III domain-containing protein 5
0
HELP
Copyright © 2017 MindSpec, Inc.