LOVD - Current system status

2010/09/02 17:10:17 CEST - Thursday, September 2nd 2010

Gene symbol Gene name Total variants Unique variants
ABCB7 ATP-Binding Cassette, sub-family B (MDR/TAP), member 7 18 5
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 35 1
ACE2 Angiotensin I Converting Enzyme (peptidyl-dipeptidase A) 2 25 6
ACOT9 acyl-CoA thioesterase 9 44 5
ACSL4 acyl-CoA synthetase long-chain family member 4 1 1
ACTRT1 actin-related protein T1 8 2
AFF2 AF4/FMR2 family, member 2 9 3
AGTR2 angiotensin II receptor, type 2 1 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 170 4
AKAP14 A kinase (PRKA) anchor protein 14 3 1
AKAP4 A kinase (PRKA) anchor protein 4 1 1
ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 5 1
AMELX amelogenin (amelogenesis imperfecta 1, X-linked) 31 2
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 2 1
AMOT angiomotin 33 7
AP1S2 adaptor-related protein complex 1, sigma 2 subunit 2 2
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 13 5
APLN apelin 1 1
APOO apolipoprotein O 1 1
APOOL apolipoprotein O-like 1 1
AR androgen receptor 24 3
ARAF v-raf murine sarcoma 3611 viral oncogene homolog 1 1
ARHGAP4 Rho GTPase activating protein 4 4 3
ARHGAP6 Rho GTPase activating protein 6 35 2
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 2 2
ARMCX1 armadillo repeat containing, X-linked 1 29 2
ARMCX2 armadillo repeat containing, X-linked 2 55 2
ARMCX3 armadillo repeat containing, X-linked 3 31 2
ARMCX4 armadillo repeat containing, X-linked 4 296 3
ARMCX5 armadillo repeat containing, X-linked 5 13 4
ARMCX6 armadillo repeat containing, X-linked 6 32 2
ARSD arylsulfatase D 279 14
ARSE arylsulfatase E (chondrodysplasia punctata 1) 107 42
ARSF arylsulfatase F 598 16
ASB11 ankyrin repeat and SOCS box-containing 11 6 1
ASB12 ankyrin repeat and SOCS box-containing 12 5 3
ASB9 ankyrin repeat and SOCS box-containing 9 3 2
ASMT acetylserotonin O-methyltransferase 29 4
ASMTL acetylserotonin O-methyltransferase-like 439 14
ATP11C ATPase, class VI, type 11C 161 7
ATP1B4 ATPase, (Na+)/K+ transporting, beta 4 polypeptide 3 3
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 231 6
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 2 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide 33 3
ATRX alpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae) 51 11
ATXN3L ataxin 3-like 84 4
AVPR2 arginine vasopressin receptor 2 11 5
AWAT1 acyl-CoA wax alcohol acyltransferase 1 56 4
AWAT2 Acyl-CoA wax alcohol acyltransferase 2 2 2
BCOR BCL6 co-repressor 185 6
BCORL1 BCL6 co-repressor-like 1 25 7
BEND2 BEN domain containing 2 25 3
BEX2 brain expressed X-linked 2 2 2
BEX4 Protein BEX4 (Brain-expressed X-linked protein 4) 11 4
BGN biglycan 171 4
BHLHB9 basic helix-loop-helix domain containing, class B, 9 1 1
BMP15 bone morphogenetic protein 15 7 6
BMP2KL BMP2 inducible kinase-like 1 1
BMX BMX non-receptor tyrosine kinase 3 3
BRWD3 bromodomain and WD repeat domain containing 3 2 2
BTK Bruton agammaglobulinemia tyrosine kinase 32 1
C1GALT1C1 C1GALT1-specific chaperone 1 37 2
CA5B carbonic anhydrase VB, mitochondrial 67 2
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 118 8
CAPN6 calpain 6 17 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 3 3
CCDC120 coiled-coil domain containing 120 2 2
CCDC22 coiled-coil domain containing 22 32 4
CCNB3 cyclin B3 4 3
CD40LG CD40 ligand 39 2
CD99 CD99 molecule 22 4
CD99L2 CD99 molecule-like 2 4 2
CDK16 cyclin-dependent kinase 16 1 1
CDKL5 cyclin-dependent kinase-like 5 20 5
CDR1 cerebellar degeneration-related protein 1, 34kDa 3 3
CENPI centromere protein I 54 4
CFP complement factor properdin 28 3
CHM choroideremia (Rab escort protein 1) 0 0
CHRDL1 chordin-like 1 74 1
CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 46 1
CLCN4 chloride channel 4 10 5
CLCN5 chloride channel 5 2 2
CLDN2 claudin 2 1 1
CLIC2 chloride intracellular channel 2 1 1
CNGA2 cyclic nucleotide gated channel alpha 2 59 9
CNKSR2 connector enhancer of kinase suppressor of Ras 2 3 3
COL4A5 collagen, type IV, alpha 5 0 0
COL4A6 collagen, type IV, alpha 6 0 0
CPXCR1 CPX chromosome region, candidate 1 89 4
CSAG1 chondrosarcoma associated gene 1 5 2
CSAG4 Putative uncharacterized protein CSAG4 Fragment 37 1
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 101 5
CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 1 1
CT45A2 cancer/testis antigen family 45, member A2 144 1
CT45A5 cancer/testis antigen CT45-5 223 15
CTAG2 cancer/testis antigen 2 61 2
CTPS2 CTP synthase II 6 2
CUL4B cullin 4B 7 7
CXorf1 chromosome X open reading frame 1 2 1
CXorf15 chromosome X open reading frame 15 66 4
CXorf21 chromosome X open reading frame 21 123 2
CXorf22 chromosome X open reading frame 22 62 7
CXorf23 chromosome X open reading frame 23 1 1
CXorf24 Putative uncharacterized protein CXorf24 53 1
CXorf25 Putative uncharacterized protein CXorf25 6 2
CXorf27 chromosome X open reading frame 27 3 2
CXorf28 chromosome X open reading frame 28 18 2
CXorf30 Chromosome X open reading frame 30 Fragment 39 7
CXorf36 chromosome X open reading frame 36 67 1
CXorf38 chromosome X open reading frame 38 101 2
CXorf41 chromosome X open reading frame 41 1 1
CXorf56 chromosome X open reading frame 56 89 1
CXorf57 chromosome X open reading frame 57 2 2
CXorf58 chromosome X open reading frame 58 54 3
CXorf59 chromosome X open reading frame 59 2 2
CXorf64 Uncharacterized protein CXorf64 105 5
CXorf65 Uncharacterized protein LOC158830 55 1
CXorf66 chromosome X open reading frame 66 18 2
CYSLTR1 cysteinyl leukotriene receptor 1 139 1
DACH2 dachshund homolog 2 (Drosophila) 2 2
DCAF12L1 DDB1 and CUL4 associated factor 12-like 1 5 2
DCAF12L2 DDB1 and CUL4 associated factor 12-like 2 127 3
DCAF8L1 DDB1 and CUL4 associated factor 8-like 1 14 4
DDX3X DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked 1 1
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 54 5
DIAPH2 diaphanous homolog 2 (Drosophila) 4 3
DKC1 dyskeratosis congenita 1, dyskerin 5 1
DLG3 discs, large homolog 3 (Drosophila) 2 2
DMD dystrophin 0 0
DNASE1L1 deoxyribonuclease I-like 1 124 4
DRP2 dystrophin related protein 2 37 8
DUSP21 dual specificity phosphatase 21 16 3
DYNLT3 dynein, light chain, Tctex-type 3 22 1
EDA ectodysplasin A 1 1
EDA2R ectodysplasin A2 receptor 141 2
EFHC2 EF-hand domain (C-terminal) containing 2 29 4
EFNB1 ephrin-B1 2 2
EGFL6 EGF-like-domain, multiple 6 11 5
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 129 3
ELF4 E74-like factor 4 (ets domain transcription factor) 60 3
ELK1 ELK1, member of ETS oncogene family 6 4
EMD emerin 0 0
ENOX2 ecto-NOX disulfide-thiol exchanger 2 1 1
ESX1 ESX homeobox 1 20 3
F8 coagulation factor VIII, procoagulant component 49 7
F9 coagulation factor IX 33 3
FAAH2 fatty acid amide hydrolase 2 66 4
FAM120C family with sequence similarity 120C 15 4
FAM122B family with sequence similarity 122B 8 3
FAM122C family with sequence similarity 122C 2 1
FAM123B family with sequence similarity 123B 6 3
FAM133A family with sequence similarity 133, member A 12 1
FAM155B family with sequence similarity 155, member B 1 1
FAM3A family with sequence similarity 3, member A 1 1
FAM45B family with sequence similarity 45, member B 0 0
FAM46D family with sequence similarity 46, member D 138 1
FAM47A family with sequence similarity 47, member A 23 2
FAM47B family with sequence similarity 47, member B 27 6
FAM47C family with sequence similarity 47, member C 7 4
FAM50A family with sequence similarity 50, member A 4 3
FAM9A family with sequence similarity 9, member A 5 2
FAM9C family with sequence similarity 9, member C 1 1
FANCB Fanconi anemia, complementation group B 0 0
FATE1 fetal and adult testis expressed 1 19 2
FGD1 FYVE, RhoGEF and PH domain containing 1 41 34
FHL1 four and a half LIM domains 1 3 2
FIGF c-fos induced growth factor (vascular endothelial growth factor D) 6 1
FLNA filamin A, alpha (actin binding protein 280) 309 84
FMR1 fragile X mental retardation 1 22 2
FMR1NB fragile X mental retardation 1 neighbor 71 1
FOXO4 forkhead box O4 1 1
FOXP3 forkhead box P3 11 3
FOXR2 Forkhead box protein R2 (Forkhead box protein N6) 117 3
FRMD7 FERM domain-containing protein 7 122 7
FRMPD3 FERM and PDZ domain containing 3 0 0
FRMPD4 FERM and PDZ domain containing 4 20 4
FTHL17 ferritin, heavy polypeptide-like 17 11 1
FTSJ1 FtsJ homolog 1 (E. coli) 2 2
FUNDC1 FUN14 domain containing 1 8 2
G6PD glucose-6-phosphate dehydrogenase 3 3
GAB3 GRB2-associated binding protein 3 14 3
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon 122 4
GABRQ gamma-aminobutyric acid (GABA) receptor, theta 66 4
GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 18 3
GEMIN8 gem (nuclear organelle) associated protein 8 2 1
GK Glycerol Kinase 0 0
GLA galactosidase, alpha 2 1
GLOD5 glyoxalase domain containing 5 0 0
GLRA2 glycine receptor, alpha 2 67 2
GLRA4 glycine receptor, alpha 4 218 4
GLUD2 glutamate dehydrogenase 2 6 1
GNL3L guanine nucleotide binding protein-like 3 (nucleolar)-like 8 6
GPC4 glypican 4 102 3
GPKOW G patch domain and KOW motifs-containing protein (G patch domain-containing protein 5) 2 2
GPM6B glycoprotein M6B 2 1
GPR101 G protein-coupled receptor 101 120 5
GPR112 G protein-coupled receptor 112 1134 24
GPR119 G protein-coupled receptor 119 2 2
GPR173 G protein-coupled receptor 173 53 2
GPR174 G protein-coupled receptor 174 103 3
GPR50 G protein-coupled receptor 50 273 9
GPR64 G protein-coupled receptor 64 5 3
GPR82 G protein-coupled receptor 82 24 1
GPRASP1 G protein-coupled receptor associated sorting protein 1 15 3
GPRASP2 G protein-coupled receptor associated sorting protein 2 6 3
GRIA3 glutamate receptor, ionotrophic, AMPA 3 111 2
GRIPAP1 GRIP1 associated protein 1 6 4
GRPR gastrin-releasing peptide receptor 91 5
GSPT2 G1 to S phase transition 2 3 3
GTPBP6 GTP binding protein 6 (putative) 0 0
GUCY2F guanylate cyclase 2F, retinal 23 9
GYG2 glycogenin 2 313 5
H2BFWT H2B histone family, member W, testis-specific 8 2
HAUS7 HAUS augmin-like complex, subunit 7 5 4
HCCS holocytochrome c synthase (cytochrome c heme-lyase) 6 1
HCFC1 host cell factor C1 (VP16-accessory protein) 184 13
HDAC4 histone deacetylase 4 0 0
HDAC6 histone deacetylase 6 7 4
HDAC8 histone deacetylase 8 5 2
HDHD1A haloacid dehalogenase-like hydrolase domain containing 1A 0 0
HDX Highly divergent homeobox 62 2
HEPH hephaestin 100 8
HMGN5 high-mobility group nucleosome binding domain 5 1 1
HNRNPH2 60S ribosomal protein L36a (60S ribosomal protein L44) 6 2
HS6ST2 heparan sulfate 6-O-sulfotransferase 2 0 0
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10 1 1
HTATSF1 HIV-1 Tat specific factor 1 22 3
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C 20 2
HUWE1 HECT, UBA and WWE domain containing 1 111 11
IDS iduronate 2-sulfatase 376 156
IGBP1 immunoglobulin (CD79A) binding protein 1 3 3
IGSF1 immunoglobulin superfamily, member 1 161 9
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0 0
IL13RA1 interleukin 13 receptor, alpha 1 6 1
IL13RA2 interleukin 13 receptor, alpha 2 2 2
IL1RAPL1 interleukin 1 receptor accessory protein-like 1 3 3
IL1RAPL2 interleukin 1 receptor accessory protein-like 2 21 3
IL2RG interleukin 2 receptor, gamma (severe combined immunodeficiency) 1 1
IL9R interleukin 9 receptor 1 1
INE1 inactivation escape 1 (non-protein coding) 0 0
IQSEC2 IQ motif and Sec7 domain 2 3 3
IRAK1 interleukin-1 receptor-associated kinase 1 330 4
IRS4 insulin receptor substrate 4 40 5
ITIH5L inter-alpha (globulin) inhibitor H5-like 32 9
ITM2A integral membrane protein 2A 6 2
KAL1 Kallmann syndrome 1 sequence 194 4
KCND1 potassium voltage-gated channel, Shal-related subfamily, member 1 2 2
KCNE1L KCNE1-like 17 1
KDM5C lysine (K)-specific demethylase 5C 4 4
KDM6A lysine (K)-specific demethylase 6A 56 2
KIAA2022 Uncharacterized protein KIAA2022 8 5
KIF4A kinesin family member 4A 28 7
KLHL13 Kelch-like protein 13 (BTB and kelch domain-containing protein 2) 20 2
KLHL15 kelch-like 15 (Drosophila) 2 2
KLHL4 kelch-like 4 (Drosophila) 179 3
L1CAM L1 cell adhesion molecule 0 0
LAMP2 lysosomal-associated membrane protein 2 0 0
LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial) 50 3
LAS1L LAS1-like (S. cerevisiae) 1 1
LHFPL1 lipoma HMGIC fusion partner-like 1 12 1
LONRF3 LON peptidase N-terminal domain and ring finger 3 94 7
LPAR4 Lysophosphatidic acid receptor 4 1 1
LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 7 5
LUZP4 leucine zipper protein 4 46 5
MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 60 4
MAGEA11 melanoma antigen family A, 11 99 1
MAGEA12 melanoma antigen family A, 12 72 2
MAGEA3 melanoma antigen family A, 3 75 3
MAGEA4 melanoma antigen family A, 4 212 5
MAGEA5 Melanoma-associated antigen 5 (MAGE-5 antigen) 17 10
MAGEA8 melanoma antigen family A, 8 132 3
MAGEB1 melanoma antigen family B, 1 4 2
MAGEB10 Melanoma-associated antigen B10 (MAGE-B10 antigen) 159 4
MAGEB18 melanoma antigen family B, 18 43 4
MAGEB2 melanoma antigen family B, 2 321 6
MAGEB3 melanoma antigen family B, 3 252 3
MAGEB4 melanoma antigen family B, 4 3 3
MAGEB5 Melanoma-associated antigen B5 (MAGE-B5 antigen) 1 1
MAGEB6 melanoma antigen family B, 6 51 11
MAGEC1 melanoma antigen family C, 1 70 8
MAGEC2 melanoma antigen family C, 2 142 3
MAGEC3 melanoma antigen family C, 3 27 4
MAGED1 melanoma antigen family D, 1 36 3
MAGED2 melanoma antigen family D, 2 279 5
MAGEE1 melanoma antigen family E, 1 4 4
MAGEE2 melanoma antigen family E, 2 11 3
MAGEH1 melanoma antigen family H, 1 47 3
MAGT1 Magnesium transporter protein 1 Precursor (MagT1) 1 1
MAMLD1 Uncharacterized protein CXorf64 20 4
MAOA monoamine oxidase A 175 3
MAOB monoamine oxidase B 3 2
MAP3K15 mitogen-activated protein kinase kinase kinase 15 5 4
MAP7D2 MAP7 domain containing 2 45 4
MAP7D3 MAP7 domain containing 3 230 12
MBNL3 muscleblind-like 3 (Drosophila) 1 1
MBTPS2 Membrane-Bound Transcription factor Peptidase, site 2 65 24
MCF2 MCF.2 cell line derived transforming sequence 124 5
MECP2 methyl CpG binding protein 2 (Rett syndrome) 16 11
MED12 mediator complex subunit 12 59 5
MED14 Mediator of RNA polymerase II transcription subunit 14 (Mediator complex subunit 14) 5 3
MID1 midline 1 (Opitz/BBB syndrome) 5 3
MID2 midline 2 17 3
MORC4 MORC family CW-type zinc finger 4 7 3
MOSPD2 Motile sperm domain-containing protein 2 7 4
MPP1 membrane protein, palmitoylated 1, 55kDa 150 4
MSL3 male-specific lethal 3 homolog (Drosophila) 2 2
MSN moesin 3 1
MTM1 myotubularin 1 2 2
MTMR1 myotubularin related protein 1 109 1
MTMR8 myotubularin related protein 8 3 3
MUM1L1 melanoma associated antigen (mutated) 1-like 1 14 3
MXRA5 matrix-remodelling associated 5 729 23
NAP1L2 nucleosome assembly protein 1-like 2 0 0
NAP1L3 nucleosome assembly protein 1-like 3 129 3
NAP1L6 Putative nucleosome assembly protein 1-like 6 1 1
NCBP2L nuclear cap binding protein subunit 2-like 0 0
NCRNA00105 Non-protein coding RNA 105 124 5
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 4 2
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) 21 9
NHSL2 NHS-like protein 2 10 4
NKAP NF-kappa-B-activating protein 9 1
NKRF NFKB repressing factor 2 1
NLGN3 neuroligin 3 1 1
NLGN4X neuroligin 4, X-linked 132 9
NOX1 NADPH oxidase 1 0 0
NR0B1 nuclear receptor subfamily 0, group B, member 1 0 0
NRK Nik-related protein kinase (EC 2.7.11.1) 56 7
NSDHL NAD(P) dependent steroid dehydrogenase-like 51 3
NUP62CL nucleoporin 62kDa C-terminal like 20 4
NXF3 nuclear RNA export factor 3 2 2
NXF5 nuclear RNA export factor 5 32 2
ODZ1 odz, odd Oz/ten-m homolog 1(Drosophila) 138 14
OFD1 oral-facial-digital syndrome 1 3 2
OGT O-linked N-acetylglucosamine (GlcNAc) transferase 4 4
OPHN1 oligophrenin 1 15 4
OTC ornithine carbamoyltransferase 0 0
P2RY10 purinergic receptor P2Y, G-protein coupled, 10 5 1
P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 60 6
P2RY8 purinergic receptor P2Y, G-protein coupled, 8 2 2
PABPC5 poly(A) binding protein, cytoplasmic 5 2 1
PAGE1 P antigen family, member 1 (prostate associated) 9 2
PAGE3 P antigen family, member 3 (prostate associated) 175 2
PASD1 PAS domain containing 1 122 11
PCDH11X protocadherin 11 X-linked 4 1
PCDH19 protocadherin 19 45 5
PCNT pericentrin 26 16
PCYT1B phosphate cytidylyltransferase 1, choline, beta 2 2
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 7 2
PDK3 pyruvate dehydrogenase kinase, isozyme 3 2 2
PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 1 1
PGAM4 phosphoglycerate mutase family member 4 11 2
PGK1 phosphoglycerate kinase 1 5 4
PGRMC1 progesterone receptor membrane component 1 3 2
PHF16 PHD finger protein 16 5 2
PHF8 PHD finger protein 8 6 3
PHKA1 phosphorylase kinase, alpha 1 (muscle) 3 1
PHKA2 phosphorylase kinase, alpha 2 (liver) 11 9
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 1 1
PIM2 pim-2 oncogene 2 1
PIN4 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 37 4
PIR pirin (iron-binding nuclear protein) 18 1
PJA1 praja ring finger 1 116 5
PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 98 11
PLP1 proteolipid protein 1 62 2
PLP2 proteolipid protein 2 (colonic epithelium-enriched) 2 1
PLS3 plastin 3 (T isoform) 17 5
PLXNA3 plexin A3 51 11
PLXNB3 plexin B3 5 4
PNMA3 paraneoplastic antigen MA3 167 2
PNMA5 paraneoplastic antigen like 5 17 2
PNMA6A paraneoplastic antigen like 6A 0 0
PNPLA4 patatin-like phospholipase domain containing 4 3 3
POF1B premature ovarian failure, 1B 27 4
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 20 5
POU3F4 POU class 3 homeobox 4 3 2
PPEF1 protein phosphatase, EF-hand calcium binding domain 1 17 1
PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F 5 5
PPP2R3B protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta 86 8
PQBP1 polyglutamine binding protein 1 2 2
PRDX4 peroxiredoxin 4 1 1
PRICKLE3 Prickle-like protein 3 (LIM domain only protein 6) 15 2
PRKX protein kinase, X-linked 95 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1 2 2
PRPS2 phosphoribosyl pyrophosphate synthetase 2 39 1
PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 4 3
PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 181 3
PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 1 1
PTCHD1 patched domain containing 1 98 3
RAB33A RAB33A, member RAS oncogene family 4 2
RAB39B RAB39B, member RAS oncogene family 1 1
RAB40A RAB40A, member RAS oncogene family 59 4
RAB40AL RAB40A, member RAS oncogene family-like 6 5
RAB41 Ras-related protein Rab-41 2 2
RAB9B RAB9B, member RAS oncogene family 1 1
RAI2 retinoic acid induced 2 6 2
RBM10 RNA binding motif protein 10 15 5
RBM41 RNA binding motif protein 41 1 1
RBMX RNA binding motif protein, X-linked 1 1
RENBP renin binding protein 0 0
REPS2 RALBP1 associated Eps domain containing 2 2 1
RGAG1 retrotransposon gag domain containing 1 104 7
RGAG4 retrotransposon gag domain containing 4 0 0
RIPPLY1 Protein ripply1 1 1
RLIM ring finger protein, LIM domain interacting 5 2
RNF113A ring finger protein 113A 3 1
RNF128 ring finger protein 128 1 1
RP2 retinitis pigmentosa 2 (X-linked recessive) 6 1
RPA4 replication protein A4, 34kDa 93 3
RPGR retinitis pigmentosa GTPase regulator 53 7
RPL10 ribosomal protein L10 119 1
RPL36A ribosomal protein L36a 1 1
RPL39 ribosomal protein L39 3 1
RPL9P7 ribosomal protein L9 pseudogene 7 1 1
RPS26P11 ribosomal protein S26 pseudogene 11 1 1
RPS4X ribosomal protein S4, X-linked 116 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 3 3
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 14 3
RS1 retinoschisin 1 0 0
SAGE1 sarcoma antigen 1 273 14
SASH3 SAM and SH3 domain containing 3 1 1
SATL1 spermidine/spermine N1-acetyl transferase-like 1 134 8
SCML2 sex comb on midleg-like 2 (Drosophila) 30 1
SEPT6 septin 6 12 2
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 28 3
SFRS17A splicing factor, arginine/serine-rich 17A 128 12
SH3KBP1 SH3-domain kinase binding protein 1 4 3
SHOX short stature homeobox 2 2
SHROOM2 shroom family member 2 46 13
SHROOM4 shroom family member 4 65 11
SIAH1L seven in absentia homolog 1-like (Drosophila) 1 1
SLC10A3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 2 2
SLC16A2 solute carrier family 16, member 2 (monocarboxylic acid transporter 8) 1 1
SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 1 1
SLC25A43 solute carrier family 25, member 43 117 2
SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 189 2
SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 15 4
SLC38A5 solute carrier family 38, member 5 13 1
SLC6A14 solute carrier family 6 (amino acid transporter), member 14 29 7
SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 0 0
SLC7A3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 158 10
SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), member 6 14 6
SLC9A7 solute carrier family 9 (sodium/hydrogen exchanger), member 7 96 4
SLITRK2 SLIT and NTRK-like family, member 2 154 5
SLITRK4 SLIT and NTRK-like protein 4 Precursor 1 1
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 6 4
SMC1A Structural Maintenance of Chromosomes 1A 0 0
SMS spermine synthase 4 2
SOX3 SRY (sex determining region Y)-box 3 9 2
SPANXN1 Sperm protein associated with the nucleus on the X chromosome N1 (SPANX-N1) 2 1
SPANXN4 SPANX family, member N4 4 2
SPIN2A spindlin family, member 2A 3 1
SRPK3 SFRS protein kinase 3 1 1
SRPX sushi-repeat-containing protein, X-linked 14 4
SRPX2 sushi-repeat-containing protein, X-linked 2 1 1
SSX1 synovial sarcoma, X breakpoint 1 1 1
SSX3 synovial sarcoma, X breakpoint 3 4 1
SSX5 synovial sarcoma, X breakpoint 5 12 2
SSX6 synovial sarcoma, X breakpoint 6 3 3
STARD8 StAR-related lipid transfer (START) domain containing 8 31 5
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) 1 1
SYAP1 synapse associated protein 1, SAP47 homolog (Drosophila) 1 1
SYN1 synapsin I 71 4
SYP synaptophysin 1 1
SYTL4 synaptotagmin-like 4 7 3
SYTL5 synaptotagmin-like 5 144 9
TAB3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 1 1
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 8 7
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 30 5
TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 1 1
TBC1D8B TBC1 domain family, member 8B (with GRAM domain) 3 3
TBX22 T-box 22 8 2
TCEAL2 transcription elongation factor A (SII)-like 2 33 3
TCEAL4 transcription elongation factor A (SII)-like 4 72 2
TCEAL5 transcription elongation factor A (SII)-like 5 2 2
TCEAL8 transcription elongation factor A (SII)-like 8 1 1
TEX11 testis expressed 11 23 6
TEX13A testis expressed 13A 0 0
TEX13B testis expressed 13B 4 3
TFDP3 transcription factor Dp family, member 3 0 0
TFE3 transcription factor binding to IGHM enhancer 3 65 2
THOC2 THO complex 2 2 2
TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) 77 1
TIMP1 TIMP metallopeptidase inhibitor 1 66 4
TLR7 toll-like receptor 7 52 4
TLR8 toll-like receptor 8 227 8
TMEM187 transmembrane protein 187 104 6
TMEM27 transmembrane protein 27 1 1
TMLHE trimethyllysine hydroxylase, epsilon 1 1
TNMD tenomodulin 60 2
TRMT2B TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) 20 2
TRO trophinin 20 4
TRPC5 transient receptor potential cation channel, subfamily C, member 5 13 4
TSPAN6 tetraspanin 6 39 3
TSPYL2 TSPY-like 2 1 1
UBA1 ubiquitin-like modifier activating enzyme 1 3 2
UBE2A ubiquitin-conjugating enzyme E2A (RAD6 homolog) 2 2
UBE2NL ubiquitin-conjugating enzyme E2N-like 118 2
UBQLN2 ubiquilin 2 3 2
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast) 4 4
UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 142 3
USP11 ubiquitin specific peptidase 11 6 5
USP26 ubiquitin specific peptidase 26 100 9
USP51 Ubiquitin carboxyl-terminal hydrolase 51 (EC 3.1.2.15)(Ubiquitin thioesterase 51) 1 1
USP9X ubiquitin specific peptidase 9, X-linked 7 4
VAMP7 vesicle-associated membrane protein 7 1 1
VBP1 von Hippel-Lindau binding protein 1 1 1
VGLL1 vestigial like 1 (Drosophila) 7 1
VSIG1 V-set and immunoglobulin domain containing 1 7 1
VSIG4 V-set and immunoglobulin domain containing 4 10 5
WDR13 WD repeat domain 13 1 1
WDR44 WD repeat domain 44 66 5
WNK3 WNK lysine deficient protein kinase 3 5 5
WWC3 WWC family member 3 17 8
XG Xg blood group 36 1
XIAP X-linked inhibitor of apoptosis 165 6
XK X-linked Kx blood group (McLeod syndrome) 1 1
XKRX XK, Kell blood group complex subunit-related, X-linked 9 6
XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 49 8
YY2 YY2 transcription factor 1 1
ZBED1 zinc finger, BED-type containing 1 42 8
ZBTB33 zinc finger and BTB domain containing 33 3 3
ZC3H12B zinc finger CCCH-type containing 12B 0 0
ZC4H2 Hepatocellular carcinoma-associated antigen 127 1 1
ZCCHC13 zinc finger, CCHC domain containing 13 3 3
ZCCHC5 zinc finger, CCHC domain containing 5 35 2
ZDHHC9 zinc finger, DHHC-type containing 9 3 3
ZFX zinc finger protein, X-linked 50 6
ZMAT1 zinc finger, matrin type 1 2 1
ZMYM3 zinc finger, MYM-type 3 3 2
ZNF182 zinc finger protein 182 2 1
ZNF185 zinc finger protein 185 (LIM domain) 0 0
ZNF275 zinc finger protein 275 0 0
ZNF280C zinc finger protein 280C 78 1
ZNF41 zinc finger protein 41 17 6
ZNF449 zinc finger protein 449 20 3
ZNF630 zinc finger protein 630 32 6
ZNF645 zinc finger protein 645 41 3
ZNF673 zinc finger family member 673 2 2
ZNF711 zinc finger protein 711 0 0
ZNF75D Zinc finger protein 75D (Zinc finger protein 75) 86 1
ZNF81 zinc finger protein 81 3 2
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 94 2
ZXDA zinc finger, X-linked, duplicated A 38 3
  Total of 543 gene entries 24023 2052