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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
GEN1007 ARHGEF10 Rho guanine nucleotide exchange factor 10 8p23.3 Rare single gene variant
2
6 4 Lu DH , et al. 2018 Edit
GEN280 CHD7 chromodomain helicase DNA binding protein 7 8q12.2 Syndromic
3
34 27 Vissers LE , et al. 2004 Edit
GEN498 CHRNB3 cholinergic receptor nicotinic beta 3 subunit 8p11.21 Rare single gene variant
0
3 2 Prasad A , et al. 2013 Edit
GEN710 CLN8 Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 8p23.3 Syndromic
2
8 3 Egawa J , et al. 2015 Edit
GEN925 CNGB3 cyclic nucleotide gated channel beta 3 8q21.3 Rare single gene variant
2
4 3 De Rubeis S , et al. 2014 Edit
GEN596 CSMD1 CUB and Sushi multiple domains 1 8p23.2 Rare Single Gene variant
3
16 13 Cukier HN , et al. 2014 Edit
GEN056 CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1 8q24.3 Syndromic
0
2 4 Chakrabarti B , et al. 2009 Edit
GEN066 DLGAP2 discs, large (Drosophila) homolog-associated protein 2 8p23.3 Rare Single Gene variant
3
25 12 Marshall CR , et al. 2008 Edit
GEN998 DPYSL2 dihydropyrimidinase like 2 8p21.2 Genetic association
2
2 12 De Rubeis S , et al. 2014 Edit
GEN613 EFR3A EFR3 homolog A (S. cerevisiae) 8q24.22 Rare Single Gene variant
4
20 5 Gupta AR , et al. 2014 Edit
GEN927 EPPK1 epiplakin 1 8q24.3 Rare single gene variant
3
10 4 Lim ET , et al. 2017 Edit
GEN361 EXT1 Exostosin 1 8q24.11 Rare single gene variant
2
5 6 Li H , et al. 2002 Edit
GEN086 FABP5 fatty acid binding protein 5 (psoriasis-associated) 8q21.13 Rare Single Gene variant, Genetic Association
0
4 7 Maekawa M , et al. 2010 Edit
GEN428 FAM135B family with sequence similarity 135 member B 8q24.23 Genetic association
2
3 2 Connolly JJ , et al. 2012 Edit
GEN747 KAT6A K(lysine) acetyltransferase 6A 8p11.21 Rare single gene variant
4
75 12 Iossifov I , et al. 2014 Edit
GEN536 KCNQ3 potassium voltage-gated channel subfamily Q member 3 8q24.22 Genetic association
4
22 9 Gilling M , et al. 2013 Edit
GEN834 KHDRBS3 KH RNA binding domain containing, signal transduction associated 3 8q24.23 Functional
0 2 Traunmller L , et al. 2014 Edit
GEN688 KIF13B Kinesin family member 13B 8p12 Rare single gene variant
3
5 3 Li J , et al. 2015 Edit
GEN689 LPL lipoprotein lipase 8p21.3 Rare single gene variant
0
1 1 Li J , et al. 2015 Edit
GEN811 MCM4 minichromosome maintenance complex component 4 8q11.21 Rare single gene variant
2
2 2 Fromer M , et al. 2014 Edit
GEN155 MCPH1 microcephalin 1 8p23.1 Rare Single Gene variant
2
16 16 Ozgen HM , et al. 2009 Edit
GEN335 MSR1 macrophage scavenger receptor 1 8p22 Rare Single Gene variant
0
5 3 O'Roak BJ , et al. 2012 Edit
GEN439 NEFL Neurofilament, light polypeptide 8p21.2 Genetic association/functional
0
2 2 Anitha A , et al. 2012 Edit
GEN628 NRG1 Neuregulin 1 8p12 Functional
0 4 Ehrlichman RS , et al. 2009 Edit
GEN1101 PCM1 pericentriolar material 1 8p22 Rare single gene variant
2
3 3 Iossifov I , et al. 2014 Edit
GEN195 PINX1 PIN2/TERF1 interacting, telomerase inhibitor 1 8p23.1 Rare Single Gene variant
0
3 6 Pinto D , et al. 2010 Edit
GEN839 PRKDC protein kinase, DNA-activated, catalytic polypeptide 8q11.21 Syndromic
3
6 5 Filiano AJ , et al. 2016 Edit
GEN329 PSD3 pleckstrin and Sec7 domain containing 3 8p22 Rare Single Gene variant
2
8 5 Pinto D , et al. 2010 Edit
GEN807 RAB2A RAB2A, member RAS oncogene family 8q12.1-q12.2 Rare single gene variant
3
5 8 Sanders SJ , et al. 2012 Edit
GEN1025 RAD21 RAD21cohesin complex component 8q24.11 Syndromic
0 3 Deardorff MA , et al. 2012 Edit
GEN210 RB1CC1 RB1-inducible coiled-coil 1 8q11.23 Rare Single Gene variant
3
7 5 Marshall CR , et al. 2008 Edit
GEN225 SDC2 syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan ) 8q22.1 Genetic association
2
2 4 Ishikawa-Brush Y , et al. 1997 Edit
GEN727 TBC1D31 TBC1 domain family, member 31 8q24.13 Rare single gene variant
2
4 4 Iossifov I , et al. 2014 Edit
GEN945 TRAPPC9 trafficking protein particle complex 9 8q24.3 Rare single gene variant
3
46 13 De Rubeis S , et al. 2014 Edit
GEN565 TTI2 TELO2 interacting protein 2 8p12 Rare single gene variant
2
2 2 Langout M , et al. 2013 Edit
GEN469 UBR5 ubiquitin protein ligase E3 component n-recognin 5 8q22.3 Rare single gene variant
3
6 7 Kato T , et al. 2012 Edit
GEN281 VPS13B vacuolar protein sorting 13 homolog B (yeast) 8q22.2 Syndromic
4
Yes 66 20 Kolehmainen J , et al. 2003 Edit
GEN499 ZNF517 Zinc finger protein 517 8q24.3 Rare single gene variant
0
4 3 Prasad A , et al. 2013 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
8
Deletion-Duplication
 5
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 9
 
 
8
Duplication
 8
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 6
 
 
8
Duplication
 1
 
 
8
Duplication
 2
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 8
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 4
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 13
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 2
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Deletion
 4
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 9
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 12
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 36
 
 
8
Deletion-Duplication
 8
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 41
 
 
8
Duplication
 3
 
 
8
Duplication
 2
 
 
8
Duplication
 3
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Duplication
 2
 
 
8
Duplication
 5
 
 
8
Deletion-Duplication
 32
 
 
8
Deletion-Duplication
 7
 
 
8
Deletion-Duplication
 26
 
 
8
Duplication
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 2
 
 
8
Deletion
 15
 
 
8
Duplication
 9
 
 
8
Duplication
 1
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 4
 
 
8
Duplication
 3
 
 
8
Duplication
 8
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 4
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 22
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 12
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 2
 
 
8
Duplication
 2
 
 
8
Deletion-Duplication
 7
 
 
8
Deletion
 2
 
 
8
Deletion
 2
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 4
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 10
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 11
 
 
8
Duplication
 2
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 9
 
 
8
Duplication
 1
 
 
8
Deletion
 3
 
 
8
Deletion
 1
 
 
8
Deletion
 4
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 9
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 12
 
 
8
Duplication
 3
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 14
 
 
8
Deletion
 2
 
 
8
Deletion-Duplication
 15
 
 
8
Duplication
 1
 
 
8
Deletion
 10
 
 
8
Duplication
 3
 
 
8
Deletion-Duplication
 17
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 6
 
 
8
Duplication
 1
 
 
8
Deletion
 2
 
 
8
Deletion
 4
 
 
8
Deletion
 1
 
 
8
Deletion
 9
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion
 4
 
 
8
Deletion
 1
 
 
8
Deletion-Duplication
 5
 
 
8
Deletion-Duplication
 15
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 13
 
 
8
Deletion
 1
 
 
8
Deletion
 1
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 8
 
 
8
Deletion
 3
 
 
8
Deletion-Duplication
 12
 
 
8
Duplication
 1
 
 
8
Deletion-Duplication
 35
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
 Rho guanine nucleotide exchange factor (GEF) 10
 Mus musculus
 
 1
 1
 
  kis
 kismet
 Drosophila melanogaster
 14q11.2
 2
 37
 
  Chd7
 chromodomain helicase DNA binding protein 7
 Mus musculus
 
 2
 4
 
  Ext1
 exostoses (multiple) 1
 Mus musculus
 
 1
 1
 
  Mcph1
 microcephaly, primary autosomal recessive 1
 Mus musculus
 Unknown
 1
 2
 
  Nrg1
 neuregulin 1
 Mus musculus
 
 1
 1
 
  Prkdc
 Protein kinase, DNA activated, catalytic peptide
 Mus musculus
 
 1
 2

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
chromodomain helicase DNA binding protein 7
110
cytochrome P450, family 11, subfamily B, polypeptide 1
4
Disks large-associated protein 2
11
exostosin 1
27
fatty acid binding protein 5 (psoriasis-associated)
3
potassium voltage-gated channel, KQT-like subfamily, member 3
5
KH domain containing, RNA binding, signal transduction associated 3
15
microcephalin 1
12
macrophage scavenger receptor 1
19
Pro-neuregulin-1, membrane-bound isoform
41
pleckstrin and Sec7 domain containing 3
8
RB1-inducible coiled-coil 1
40
syndecan 2
68
TELO2 interacting protein 2
2
ubiquitin protein ligase E3 component n-recognin 5
15
vacuolar protein sorting 13 homolog B (yeast)
14
Cadherin-17
0
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