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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
GEN008 AHI1 Abelson helper integration site 1 6q23.3 Rare Single Gene variant
2
27 19 Alvarez Retuerto AI , et al. 2008 Edit
GEN009 ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase ) 6p22.3 Syndromic
2
Yes 8 10 Pearl PL , et al. 2003 Edit
GEN357 ARID1B AT-rich interaction domain 1B 6q25.3 Rare single gene variant
5
105 42 Nord AS , et al. 2011 Edit
GEN029 C4B complement component 4B 6p21.33 Genetic Association
0
2 6 Odell D , et al. 2005 Edit
GEN049 CNR1 cannabinoid receptor 1 (brain) 6q15 Genetic Association
2
33 7 Chakrabarti B , et al. 2006 Edit
GEN719 CUL7 Cullin 7 6p21.1 Rare single gene variant
3
20 5 Iossifov I , et al. 2014 Edit
GEN1094 DLL1 delta like canonical Notch ligand 1 6q27 Rare single gene variant
4
13 2 O'Roak BJ , et al. 2014 Edit
GEN581 DST Dystonin 6p12.1 Rare single gene variant
3
13 7 Kenny EM , et al. 2013 Edit
GEN323 DUSP22 dual specificity phosphatase 22 6p25.3 Rare Single Gene variant
0
1 1 Leblond CS , et al. 2012 Edit
GEN1038 ELOVL2 ELOVL fatty acid elongase 2 6p24.2 Genetic association
0
4 1 Sun C , et al. 2018 Edit
GEN082 ESR1 estrogen receptor 1 6q25.1-q25.2 Syndromic
2
4 10 Chakrabarti B , et al. 2009 Edit
GEN085 F13A1 coagulation factor XIII, A1 polypeptide 6p25.1 Functional
2
3 6 Hu VW , et al. 2006 Edit
GEN087 FABP7 fatty acid binding protein 7, brain 6q22.31 Genetic Association
0
10 7 Maekawa M , et al. 2010 Edit
GEN097 FRK fyn-related kinase 6q22.1 Genetic Association
2
3 3 Wang K , et al. 2009 Edit
GEN103 GLO1 glyoxalase I 6p21.2 Genetic Association
3
7 10 Junaid MA , et al. 2004 Edit
GEN109 GRIK2 glutamate ionotropic receptor kainate type subunit 2 6q16.3 Genetic Association
2
21 18 Jamain S , et al. 2002 Edit
GEN593 GRM1 glutamate metabotropic receptor 1 6q24.3 Rare single gene variant
0
3 6 Waltes R , et al. 2014 Edit
GEN559 GRM4 Glutamate receptor, metabotropic 4 6p21.31 Functional
0 1 Iscru E , et al. 2013 Edit
GEN119 HLA-A major histocompatibility complex, class I, A 6p22.1 Genetic Association
0
7 10 Torres AR , et al. 2006 Edit
GEN795 HLA-B Major histocompatibility complex, class I, B 6p21.33 Genetic association
0
7 5 Al-Hakbany M , et al. 2014 Edit
GEN1086 HLA-DPB1 major histocompatibility complex, class II, DP beta 1 6p21.32 Genetic association
2
3 2 Nudel R , et al. 2019 Edit
GEN120 HLA-DRB1 major histocompatibility complex, class II, DR beta 1 6p21.32 Genetic association
0
9 11 Warren RP , et al. 1996 Edit
GEN973 HLA-G major histocompatibility complex, class I, G 6p22.1 Genetic association
0
3 4 Guerini FR , et al. 2014 Edit
GEN125 HS3ST5 heparan sulfate (glucosamine) 3-O-sulfotransferase 5 6q21-q22.1 Genetic Association
2
4 7 Wang K , et al. 2009 Edit
GEN127 HTR1B 5-hydroxytryptamine (serotonin) receptor 1B 6q14.1 Genetic Association
0
2 6 Orabona GM , et al. 2008 Edit
GEN841 IFNGR1 interferon gamma receptor 1 6q23.3 Functional
0 1 Filiano AJ , et al. 2016 Edit
GEN374 JARID2 jumonji and AT-rich interaction domain containing 2 6p22.3 Genetic association
3
8 11 Weiss LA , et al. 2009 Edit
GEN294 KHDRBS2 KH domain containing, RNA binding, signal transduction associated 2 6q11.1 Rare Single Gene variant
2
5 3 Salyakina D , et al. 2011 Edit
GEN142 KIAA1586 KIAA1586 6p12.1 Rare Single Gene variant
3
16 4 Bucan M , et al. 2009 Edit
GEN911 LRFN2 leucine rich repeat and fibronectin type III domain containing 2 6p21.2-p21.1 Rare single gene variant
3
16 4 Morimura N , et al. 2017 Edit
GEN185 OPRM1 opioid receptor, mu 1 6q25.2 Functional
0 4 Moles A , et al. 2004 Edit
GEN326 PEX7 peroxisomal biogenesis factor 7 6q23.3 Genetic Association
3
Yes 4 3 Ro M , et al. 2012 Edit
GEN885 PHF3 PHD finger protein 3 6q12 Rare single gene variant
2
6 3 Iossifov I , et al. 2014 Edit
GEN856 PHIP pleckstrin homology domain interacting protein 6q14.1 Rare single gene variant
4
42 11 Iossifov I , et al. 2014 Edit
GEN198 PLN phospholamban 6q22.31 Rare Single Gene variant
0
1 4 Marshall CR , et al. 2008 Edit
GEN806 POU3F2 POU class 3 homeobox 2 6q16.1 Functional
0
7 3 Belinson H , et al. 2016 Edit
GEN786 PPP2R5D Protein phosphatase 2, regulatory subunit B', delta 6p21.1 Rare single gene variant
4
37 14 Shang L , et al. 2015 Edit
GEN188 PRKN parkin RBR E3 ubiquitin protein ligase 6q26 Genetic Association
4
46 15 Glessner JT , et al. 2009 Edit
GEN769 PTK7 Protein tyrosine kinase 7 (inactive) 6p21.1 Rare single gene variant
3
5 4 Sanders SJ , et al. 2015 Edit
GEN637 RIMS1 Regulating synaptic membrane exocytosis 1 6q13 Rare single gene variant
3
12 6 Dong S , et al. 2014 Edit
GEN221 RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 6q27 Rare Single Gene variant
2
2 4 Marshall CR , et al. 2008 Edit
GEN931 SASH1 SAM and SH3 domain containing 1 6q24.3-q25.1 Rare single gene variant
2
2 2 Iossifov I , et al. 2014 Edit
GEN1052 SLC22A3 solute carrier family 22 member 3 6q25.3 Functional
0 3 Garbarino VR , et al. 2018 Edit
GEN717 SNX14 Sorting nexin 14 6q14.3 Syndromic
2
22 6 Akizu N , et al. 2015 Edit
GEN598 STXBP5 Syntaxin binding protein 5 (tomosyn) 6q24.3 Rare single gene variant
3
17 6 Cukier HN , et al. 2014 Edit
GEN1053 SYNCRIP synaptotagmin binding cytoplasmic RNA interacting protein 6q14.3 Rare single gene variant
3
7 6 Krumm N , et al. 2015 Edit
GEN244 SYNE1 spectrin repeat containing, nuclear envelope 1 6q25.2 Rare Single Gene variant
3
20 15 O'Roak BJ , et al. 2011 Edit
GEN245 SYNGAP1 synaptic Ras GTPase activating protein 1 6p21.32 Rare Single Gene variant
5
160 53 Hamdan FF , et al. 2011 Edit
GEN543 TBC1D7 TBC1 domain family member 7 6p24.1 Functional
0
2 4 Dibble CC , et al. 2012 Edit
GEN770 USP45 Ubiquitin specific peptidase 45 6q16.2 Rare single gene variant
2
3 3 Sanders SJ , et al. 2015 Edit
GEN698 UTRN utrophin 6q24.2 Rare single gene variant
2
3 2 Li J , et al. 2015 Edit
GEN554 VIP vasoactive intestinal peptide 6q25.2 Functional
2
2 6 Hill JM , et al. 2007 Edit
GEN1021 WASF1 WAS protein family member 1 6q21 Syndromic
0
5 1 Ito Y , et al. 2018 Edit
GEN854 ZNF292 zinc finger protein 292 6q14.3 Rare single gene variant
3
5 4 Neale BM , et al. 2012 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
6
Deletion-Duplication
 1
 
 
6
Duplication
 1
 
 
6
Duplication
 12
 
 
6
Duplication
 1
 
 
6
Duplication
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 16
 
 
6
Deletion-Duplication
 4
 
 
6
Deletion-Duplication
 10
 
 
6
Duplication
 1
 
 
6
Deletion-Duplication
 12
 
 
6
Deletion-Duplication
 1
 
 
6
Deletion-Duplication
 10
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 12
 
 
6
Duplication
 1
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion-Duplication
 2
 
 
6
Deletion-Duplication
 19
 
 
6
Duplication
 2
 
 
6
Deletion-Duplication
 11
 
 
6
Duplication
 5
 
 
6
Deletion-Duplication
 21
 
 
6
Deletion
 1
 
 
6
Deletion
 5
 
 
6
Deletion
 4
 
 
6
Deletion
 3
 
 
6
Deletion
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 9
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 7
 
 
6
Deletion
 11
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 9
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 19
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 3
 
 
6
Deletion
 4
 
 
6
Duplication
 4
 
 
6
Deletion-Duplication
 6
 
 
6
Duplication
 2
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 17
 
 
6
Duplication
 4
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 9
 
 
6
Deletion
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 22
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Duplication
 3
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 9
 
 
6
Duplication
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion
 2
 
 
6
Deletion
 3
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion
 2
 
 
6
Deletion-Duplication
 22
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 6
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
N/A
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 4
 
 
6
Deletion-Duplication
 23
 
 
6
Deletion
 2
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 9
 
 
6
Deletion
 2
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 5
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 8
 
 
6
Deletion-Duplication
 13
 
 
6
Deletion
 2
 
 
6
Duplication
 1
 
 
6
Duplication
 5
 
 
6
Deletion
 1
 
 
6
Deletion
 1
 
 
6
Deletion
 11
 
 
6
Deletion
 1
 
 
6
Duplication
 1
 
 
6
Deletion
 10
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 5
 
 
6
Deletion
 4
 
 
6
Deletion
 3
 
 
6
Deletion-Duplication
 15
 
 
6
Deletion
 1
 
 
6
Deletion-Duplication
 1
 
 
6
Deletion-Duplication
 37
 
 
6
Deletion
 6
 
 
6
Deletion-Duplication
 28
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  Ahi1
 Abelson helper integration site 1
 Mus musculus
 Unknown
 3
 3
 
 Aldehyde Dehydrogenase family 5, subfamily A1
 Mus musculus
 Unknown
 1
 4
 
  Arid1b
 AT rich interactive domain 1B (SWI-like)
 Mus musculus
 
 2
 8
 
  Grik2
 glutamate receptor, ionotropic, kainate 2 (beta 2)
 Mus musculus
 
 2
 4
 
  Htr1b
 5-hydroxytryptamine (serotonin) receptor 1B
 Mus musculus
 Unknown
 1
 2
 
  Ifngr1
 Interferon gamma receptor 1
 Mus musculus
 
 1
 1
 
  Lrfn2
 leucine rich repeat and fibronectin type III domain containing 2
 Mus musculus
 
 1
 2
 
  Oprm1
 opioid receptor, mu 1
 Mus musculus
 Human 6q24-q25; chr6:154010496-154246867
 2
 3
 
  Park2
 Parkinson disease (autosomal recessive, juvenile) 2, parkin
 Mus musculus
 Unknown
 1
 1
 
  Pln
 Phospholamban
 Mus musculus
 Unknown
 1
 1
 
  Pou3f2
 POU domain class 3 transcription factor 2
 Mus musculus
 
 1
 2
 
  Prkn
 parkin RBR E3 ubiquitin protein ligase
 Rattus norvegicus
 Unknown
 1
 1
 
  Rims1
 regulating synaptic membrane exocytosis 1
 Mus musculus
 6q13
 4
 10
 
 synaptic Ras GTPase activating protein 1a
 Danio rerio
 6p21.32
 1
 6
 
 CG42684
 Drosophila melanogaster
 
 1
 2
 
 synaptic Ras GTPase activating protein 1 homolog (rat)
 Mus musculus
 Unknown
 7
 13

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
Abelson helper integration site 1
6
aldehyde dehydrogenase 5 family, member A1
8
AT rich interactive domain 1B (SWI1-like)
27
C4B
complement component 4B (Chido blood group)
10
cannabinoid receptor 1 (brain)
1
estrogen receptor 1
16
Fatty acid-binding protein, brain
3
FRK
fyn-related kinase
10
glyoxalase I
11
glutamate receptor, ionotropic, kainate 2
29
major histocompatibility complex, class I, A
18
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
5
KH domain containing, RNA binding, signal transduction associated 2
106
KIAA1586
5
parkinson protein 2, E3 ubiquitin protein ligase (parkin)
105
PLN
phospholamban
13
POU class 3 homeobox 2
1
protein tyrosine kinase 7
3
regulating synaptic membrane exocytosis 1
14
ribosomal protein S6 kinase, 90kDa, polypeptide 2
18
sorting nexin 14
18
spectrin repeat containing, nuclear envelope 1
34
synaptic Ras GTPase activating protein 1
19
VIP
VIP peptides
8
Heparan sulfate glucosamine 3-O-sulfotransferase 5
0
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