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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
GEN289 AFF2 AF4/FMR2 family, member 2 Xq28 Syndromic
N
33 14 Abrams MT , et al. 1997 Edit
GEN007 AGTR2 angiotensin II receptor, type 2 Xq23 Rare Single Gene variant
N
6 3 Vervoort VS , et al. 2002 Edit
GEN531 AP1S2 adaptor related protein complex 1 sigma 2 subunit Xp22.2 Syndromic
N
9 5 Borck G , et al. 2008 Edit
GEN014 AR androgen receptor Xq12 Genetic Association
N
3 6 Henningsson S , et al. 2009 Edit
GEN715 ARHGEF9 Cdc42 guanine nucleotide exchange factor (GEF) 9 Xq11.1-q11.2 Rare single gene variant
N
21 7 Machado CO , et al. 2015 Edit
GEN017 ARX aristaless related homeobox Xp21.3 Rare single gene variant
N
34 15 Sherr EH 2003 Edit
GEN018 ASMT acetylserotonin O-methyltransferase Xp22.33 Rare Single Gene variant, Genetic Association
N
20 9 Melke J , et al. 2007 Edit
GEN288 ATRX alpha thalassemia/mental retardation syndrome X-linked Xq21.1 Syndromic
N
29 17 Gibbons R 2006 Edit
GEN033 CACNA1F calcium channel, voltage-dependent, alpha 1F Xp11.23 Genetic Association
N
6 7 Strom TM , et al. 1998 Edit
GEN876 CASK calcium/calmodulin dependent serine protein kinase Xp11.4 Syndromic
N
23 12 Iossifov I , et al. 2014 Edit
GEN380 CD99L2 CD99 molecule like 2 Xq28 Genetic association
N
2 1 Ramos PS , et al. 2012 Edit
GEN046 CDKL5 cyclin-dependent kinase-like 5 Xp22.13 Syndromic
N
Yes 81 31 Weaving LS , et al. 2004 Edit
GEN865 CNKSR2 connector enhancer of kinase suppressor of Ras 2 Xp22.12 Syndromic
N
10 3 Deciphering Developmental Disorders Study 2017 Edit
GEN055 CXCR3 chemokine (C-X-C motif) receptor 3 Xq13.1 Rare Single Gene variant
N
3 8 Piton A , et al. 2010 Edit
GEN061 DCX doublecortex, lissencephaly, X-linked (doublecortin) Xq23 Rare Single Gene variant
N
8 7 Vourc'h P , et al. 2002 Edit
GEN745 DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked Xp11.4 Rare single gene variant
N
60 12 Snijders Blok L , et al. 2015 Edit
GEN332 DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 Xp22.11 Rare Single Gene variant
N
7 3 Pinto D , et al. 2010 Edit
GEN833 DGKK diacylglycerol kinase kappa Xp11.22 Functional
N
0 1 Tabet R , et al. 2016 Edit
GEN070 DMD dystrophin (muscular dystrophy, Duchenne and Becker types) Xp21.2-p21.1 Syndromic
N
33 35 Wu JY , et al. 2006 Edit
GEN895 FAM47A family with sequence similarity 47 member A Xp21.1 Rare single gene variant
N
2 1 C Yuen RK , et al. 2017 Edit
GEN287 FGD1 FYVE, RhoGEF and PH domain containing 1 Xp11.22 Rare Single Gene variant
N
4 3 Orrico A , et al. 2005 Edit
GEN093 FMR1 fragile X mental retardation 1 Xq27.3 Functional
N
30 40 Rogers SJ , et al. 2002 Edit
GEN098 FRMPD4 FERM and PDZ domain containing 4 Xp22.2 Rare Single Gene variant
N
6 5 Piton A , et al. 2010 Edit
GEN481 GABRA3 Gamma-aminobutyric acid (GABA) A receptor, alpha 3 Xq28 Rare Single Gene variant
N
8 2 Piton A , et al. 2012 Edit
GEN480 GABRQ Gamma-aminobutyric acid (GABA) A receptor, theta Xq28 Rare Single Gene variant
N
1 1 Piton A , et al. 2012 Edit
GEN104 GLRA2 glycine receptor, alpha 2 Xp22.2 Rare Single Gene variant
N
7 13 Piton A , et al. 2010 Edit
GEN849 GPC4 glypican 4 Xq26.2 Rare single gene variant
N
Yes 2 2 Doan RN , et al. 2016 Edit
GEN114 GRPR Gastrin-releasing peptide receptor Xp22.2 Genetic Association
N
6 8 Ishikawa-Brush Y , et al. 1997 Edit
GEN430 HCFC1 Host cell factor C1 (VP16-accessory protein) Xq28 Syndromic
N
17 7 Huang L , et al. 2012 Edit
GEN482 HDAC6 Histone deacetylase 6 Xp11.23 Rare Single Gene variant
N
1 2 Piton A , et al. 2012 Edit
GEN121 HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 Xq22.1 Rare Single Gene variant
N
8 5 Piton A , et al. 2010 Edit
GEN432 HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase Xp11.22 Syndromic
N
30 9 Nava C , et al. 2012 Edit
GEN133 IL1RAPL1 interleukin 1 receptor accessory protein-like 1 Xp21.3-p21.2 Rare single gene variant
N
21 20 Bhat SS , et al. 2007 Edit
GEN302 IL1RAPL2 interleukin 1 receptor accessory protein-like 2 Xq22.3 Genetic Association
N
4 2 Chung RH , et al. 2011 Edit
GEN542 IQSEC2 IQ motif and Sec7 domain 2 Xp11.22 Syndromic
N
31 18 Shoubridge C , et al. 2010 Edit
GEN435 KDM5C lysine demethylase 5C Xp11.22 Syndromic
N
32 21 Adegbola A , et al. 2008 Edit
GEN896 KDM6A lysine demethylase 6A Xp11.3 Syndromic
N
7 6 C Yuen RK , et al. 2017 Edit
GEN405 MAGED1 MAGE family member D1 Xp11.22 Functional
N
0 1 Dombret C , et al. 2012 Edit
GEN149 MAOA monoamine oxidase A Xp11.3 Genetic Association
N
13 14 Cohen IL , et al. 2003 Edit
GEN524 MAOB Monoamine oxidase B Xp11.3 Multigenic CNV
N
6 4 Saito M , et al. 2013 Edit
GEN157 MECP2 Methyl CpG binding protein 2 Xq28 Syndromic
N
134 68 Amir RE , et al. 1999 Edit
GEN158 MED12 mediator complex subunit 12 Xq13.1 Genetic Association
N
19 20 Beyer KS , et al. 2002 Edit
GEN379 MSN Moesin Xq12 Functional
N
0 1 Kerin T , et al. 2012 Edit
GEN538 NEXMIF neurite extension and migration factor Xq13.3 Rare single gene variant
N
35 18 Cantagrel V , et al. 2004 Edit
GEN171 NLGN3 neuroligin 3 Xq13.1 Rare Single Gene variant
N
32 32 Jamain S , et al. 2003 Edit
GEN172 NLGN4X neuroligin 4, X-linked Xp22.32-p22.31 Rare Single Gene variant
N
41 29 Jamain S , et al. 2003 Edit
GEN483 NXF5 Nuclear RNA export factor 5 Xq22.1 Rare Single Gene variant
N
2 4 Piton A , et al. 2012 Edit
GEN818 OCRL oculocerebrorenal syndrome of Lowe Xq26.1 Syndromic
N
2 5 Kenworthy L , et al. 1993 Edit
GEN961 OFD1 OFD1, centriole and centriolar satellite protein Xp22.2 Rare single gene variant
N
2 2 Krumm N , et al. 2015 Edit
GEN547 OGT O-linked N-acetylglucosamine (GlcNAc) transferase Xq13.1 Functional
N
3 4 Howerton CL , et al. 2013 Edit
GEN184 OPHN1 oligophrenin 1 Xq12 Rare Single Gene variant
N
12 12 Piton A , et al. 2010 Edit
GEN894 PCDH11X protocadherin 11 X-linked Xq21.31 Rare single gene variant
N
2 2 Lim ET , et al. 2013 Edit
GEN190 PCDH19 protocadherin 19 Xq22.1 Syndromic
N
182 25 Piton A , et al. 2010 Edit
GEN192 PDZD4 PDZ domain containing 4 Xq28 Rare Single Gene variant
N
2 4 Piton A , et al. 2010 Edit
GEN456 PHF8 PHD finger protein 8 Xp11.22 Syndromic
N
7 7 Nava C , et al. 2012 Edit
GEN962 PLXNA3 plexin A3 Xq28 Rare single gene variant
N
4 2 Krumm N , et al. 2015 Edit
GEN200 PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F Xp11.23 Rare Single Gene variant
N
2 3 Piton A , et al. 2010 Edit
GEN202 PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 Xq22.3 Rare Single Gene variant
N
1 6 Piton A , et al. 2010 Edit
GEN203 PTCHD1 patched domain containing 1 Xp22.11 Rare Single Gene variant
N
51 11 Marshall CR , et al. 2008 Edit
GEN207 RAB39B RAB39B, member RAS oncogene family Xq28 Rare Single Gene variant
N
10 10 Giannandrea M , et al. 2010 Edit
GEN216 RHOXF1 Rhox homeobox family, member 1 Xq24 Genetic Association
N
2 3 Wang K , et al. 2009 Edit
GEN708 RLIM Ring finger protein, LIM domain interacting Xq13.2 Rare single gene variant
N
9 4 Tnne E , et al. 2015 Edit
GEN220 RPL10 ribosomal protein L10 Xq28 Rare single gene variant
N
7 13 Klauck SM , et al. 2006 Edit
GEN591 RPS6KA3 Ribosomal protein S6 kinase, 90kDa, polypeptide 3 Xp22.12 Syndromic
N
6 9 O'Roak BJ , et al. 2012 Edit
GEN228 SH3KBP1 SH3-domain kinase binding protein 1 Xp22.12 Rare Single Gene variant
N
1 4 Piton A , et al. 2010 Edit
GEN821 SHOX short stature homeobox Yp11.2 Rare single gene variant
N
27 2 Tropeano M , et al. 2016 Edit
GEN463 SLC25A14 Solute carrier family 25 (mitochondrial carrier, brain), member 14 Xq26.1 Functional
N
0 1 Anitha A , et al. 2012 Edit
GEN236 SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 Xq28 Rare Single Gene variant
N
12 10 Po-Argelles P , et al. 2006 Edit
GEN744 SLC7A3 Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 Xq13.1 Rare single gene variant
N
4 2 Nava C , et al. 2015 Edit
GEN237 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 Xq26.3 Syndromic
N
24 12 Garbern JY , et al. 2010 Edit
GEN913 SMC1A structural maintenance of chromosomes 1A Xp11.22 Syndromic
N
15 3 Huisman S , et al. 2017 Edit
GEN504 SYAP1 Synapse associated protein 1 Xp22.2 Rare single gene variant
N
3 2 Prasad A , et al. 2013 Edit
GEN243 SYN1 Synapsin 1 Xp11.3-p11.23 Rare Single Gene variant
N
11 18 Fassio A , et al. 2011 Edit
GEN792 TAF1 TATA-box binding protein associated factor 1 Xq13.1 Rare single gene variant
N
14 3 O'Rawe JA , et al. 2015 Edit
GEN301 TBL1X transducin (beta)-like 1X-linked Xp22.31-p22.2 Genetic Association
N
3 1 Chung RH , et al. 2011 Edit
GEN269 TMLHE trimethyllysine hydroxylase, epsilon Xq28 Rare Single Gene variant
N
10 5 Celestino-Soper PB , et al. 2011 Edit
GEN259 TSPAN7 tetraspanin 7 Xp11.4 Rare Single Gene variant
N
8 7 Piton A , et al. 2010 Edit
GEN364 UPF3B UPF3B, regulator of nonsense mediated mRNA decay Xq24 Syndromic
N
14 12 Tarpey PS , et al. 2007 Edit
GEN751 VSIG4 V-set and immunoglobulin domain containing 4 Xq12 Rare single gene variant
N
2 2 Lim ET , et al. 2013 Edit
GEN264 WNK3 WNK lysine deficient protein kinase 3 Xp11.22 Rare Single Gene variant
N
1 6 Piton A , et al. 2010 Edit

 

CNV Search Results


Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 19
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Duplication
 1
 
 
X
Duplication
 5
 
 
X
Deletion-Duplication
 14
 
 
X
Deletion-Duplication
 24
 
 
X
Deletion
 1
 
 
X
Deletion
 4
 
 
X
Deletion-Duplication
 22
 
 
X
Duplication
 5
 
 
X
Deletion
 14
 
 
X
Deletion
 2
 
 
X
Deletion-Duplication
 11
 
 
X
Deletion
 1
 
 
X
Duplication
 6
 
 
X
Deletion-Duplication
 15
 
 
X
Deletion
 1
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 9
 
 
X
Deletion
 7
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 15
 
 
X
Duplication
 6
 
 
X
Deletion-Duplication
 38
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion-Duplication
 9
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 2
 
 
X
Deletion-Duplication
 33
 
 
X
Deletion
 1
 
 
X
Deletion
 3
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 4
 
 
X
Deletion
 5
 
 
X
Duplication
 5
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 12
 
 
X/Y
Duplication
 5
 
 
X/Y
Duplication
 1
 
 
X
Deletion-Duplication
 7
 
 
X
Deletion
 2
 
 
X
Duplication
 2
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 10
 
 
X
Duplication
 2
 
 
X
Duplication
 2
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 14
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 4
 
 
X
Duplication
 1
 
 
X
Deletion-Duplication
 14
 
 
X
Deletion
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 1
 
 
X
Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 15
 
 
X
Deletion
 2
 
 
X
Duplication
 1
 
 
X
Deletion
 1
 
 
X
Duplication
 6
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 11
 
 
X
Deletion-Duplication
 13
 
 
X
Deletion-Duplication
 15
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 5
 
 
X
Deletion-Duplication
 18
 
 
X
Duplication
 2
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 1
 
 
X
Deletion
 1
 
 
X
Deletion-Duplication
 12
 
 
X
Deletion
 5
 
 
X
Deletion-Duplication
 55
 
 
Y
Duplication
 5
 

 

Animal Model Search Results


Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
 
  arxa
 aristaless related homeobox a
 Danio rerio
 Yes, in zebrafish, the synteny block (PDK3-PCYT1B-POLA1-ARX) is split into pdk3a-pcyt1ba and pola1-arxa.
 1
 4
 
  Arx
 aristaless related homeobox
 Mus musculus
 Unknown
 4
 5
 
 Calcium channel, voltage dependent, alpha 1F subunit
 Mus musculus
 
 1
 1
 
  Cdkl5
 cyclin-dependent kinase-like 5
 Mus musculus
 
 1
 2
 
  Cxcr3
 chemokine (C-X-C motif) receptor 3
 Mus musculus
 Unknown
 1
 1
 
  Dmd
 Dystrophin, muscular dystrophy
 Mus musculus
 Unknown
 5
 6
 
  fmr1
 fragile X mental retardation 1
 Danio rerio
 
 3
 3
 
  Fmr1
 CG6203 gene product from transcript CG6203-RC
 Drosophila melanogaster
 
 9
 56
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Mus musculus
 Unknown
 33
 43
 
  Fmr1
 fragile X mental retardation syndrome 1 homolog
 Rattus norvegicus
 Unknown
 0
 0
 
  Glra2
 glycine receptor, alpha 2 subunit
 Mus musculus
 Unknown
 1
 1
 
  Grpr
 gastrin releasing peptide receptor
 Mus musculus
 Unknown
 3
 5
 
 interleukin 1 receptor accessory protein-like 1
 Mus musculus
 Unknown
 2
 2
 
  Maoa
 Monoamine Oxidase A
 Mus musculus
 Unknown
 3
 3
 
  mecp2
 methyl CpG binding protein 2
 Danio rerio
 
 2
 17
 
  hMECP2
 methyl-CpG binding protein 2
 Drosophila melanogaster
 
 1
 113
 
  Mecp2
 methyl CpG binding protein 2
 Mus musculus
 Yes
 30
 68
 
  Mecp2
 methyl CpG binding protein 2
 Rattus norvegicus
 Unknown
 6
 3
 
  dnl2
 Neuroligin 2
 Drosophila melanogaster
 
 1
 1
 
  Nlgn3
 neuroligin 3
 Mus musculus
 Yes
 14
 39
 
  Nlgn3
 neuroligin 3
 Rattus norvegicus
 Yes
 2
 1
 
  Nlg4
 Neuroligin 4
 Drosophila melanogaster
 
 2
 2
 
  Nlg4
 Neuroligin 4
 Drosophila menalogaster
 
 0
 0
 
  Nlgn4x
 neuroligin 4-like
 Mus musculus
 Unknown
 2
 3
 
  Ophn1
 Oligophrenin 1
 Mus musculus
 Unknown
 1
 1
 
  Pcdh19
 protocadherin 19
 Mus musculus
 
 1
 4
 
  Pcdh19
 protocadherin 19
 Rattus norvegicus
 
 1
 2
 
  Ptchd1
 Patched domain containing 1
 Mus musculus
 
 2
 7
 
  rlim
 ring finger protein, LIM domain interacting
 Danio rerio
 
 1
 11
 
  rpl10
 ribosomal protein L10
 Danio rerio
 Xq28
 1
 11
 
 ribosomal protein S6 kinase polypeptide 3
 Mus musculus
 
 1
 1
 
  Slc6a8
 Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
 Mus musculus
 Xq28
 1
 2
 
  Slc9a6
 solute carrier family 9 (sodium/hydrogen exchanger), member 6
 Mus musculus
 
 3
 3
 
  Syn1
 Synapsin I
 Mus musculus
 
 2
 1
 
  Upf3b
 UPF3 regulator of nonsense transcripts homolog B (yeast)
 Mus musculus
 
 1
 3

 

PIN Search Results


Gene Symbol
Gene Name
Number of Interactions
AF4/FMR2 family, member 2
3
angiotensin II receptor, type 2
2
AR
androgen receptor
19
Cdc42 guanine nucleotide exchange factor (GEF) 9
3
ARX
aristaless related homeobox
1010
alpha thalassemia/mental retardation syndrome X-linked
7
Voltage-dependent L-type calcium channel subunit alpha-1F
6
cyclin-dependent kinase-like 5
23
DCX
doublecortin
19
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
5
DMD
dystrophin
70
fragile X mental retardation 1
9286
gamma-aminobutyric acid (GABA) A receptor, theta
1
gastrin-releasing peptide receptor
56
host cell factor C1 (VP16-accessory protein)
17
histone deacetylase 6
10
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
5
interleukin 1 receptor accessory protein-like 1
7
lysine (K)-specific demethylase 5C
17
melanoma antigen family D, 1
34
monoamine oxidase A
4
methyl CpG binding protein 2 (Rett syndrome)
522
MSN
moesin
88
neuroligin 3
95
neuroligin 4, X-linked
5
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
15
oligophrenin 1
9
protocadherin 19
5
PHD finger protein 8
35
patched domain containing 1
1
RAB39B, member RAS oncogene family
29
Rhox homeobox family, member 1
2
ribosomal protein L10
15
SH3-domain kinase binding protein 1
33
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
9
solute carrier family 9 (sodium/hydrogen exchanger), member 6
32
Synapsin-1
12
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
6
transducin (beta)-like 1X-linked
29
trimethyllysine hydroxylase, epsilon
4
tetraspanin 7
6
UPF3 regulator of nonsense transcripts homolog B (yeast)
40
WNK lysine deficient protein kinase 3
4
X-linked interleukin-1 receptor accessory protein-like 2
0
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