LOVD - Current system status

2014/09/01 12:51:01 CEST - Monday, September 1st 2014

Gene symbol Gene name Total variants Unique variants Patients
ABCB7 ATP-Binding Cassette, sub-family B (MDR/TAP), member 7 18 5 18
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1 35 1 35
ACE2 Angiotensin I Converting Enzyme (peptidyl-dipeptidase A) 2 25 6 25
ACOT9 acyl-CoA thioesterase 9 44 5 44
ACSL4 acyl-CoA synthetase long-chain family member 4 1 1 1
ACTRT1 actin-related protein T1 8 2 8
AFF2 AF4/FMR2 family, member 2 9 3 9
AGTR2 angiotensin II receptor, type 2 1 1 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1 170 4 170
AKAP14 A kinase (PRKA) anchor protein 14 3 1 3
AKAP4 A kinase (PRKA) anchor protein 4 1 1 1
ALG13 asparagine-linked glycosylation 13 homolog (S. cerevisiae) 5 1 5
AMELX amelogenin (amelogenesis imperfecta 1, X-linked) 31 2 31
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 2 1 2
AMOT angiomotin 33 7 31
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2 13 5 13
APLN apelin 1 1 1
APOO apolipoprotein O 1 1 1
APOOL apolipoprotein O-like 1 1 1
AR androgen receptor 1671 613 1278
ARAF v-raf murine sarcoma 3611 viral oncogene homolog 1 1 1
ARHGAP4 Rho GTPase activating protein 4 4 3 4
ARHGAP6 Rho GTPase activating protein 6 35 2 35
ARHGEF6 Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 2 2 2
ARMCX1 armadillo repeat containing, X-linked 1 29 2 29
ARMCX2 armadillo repeat containing, X-linked 2 55 2 55
ARMCX3 armadillo repeat containing, X-linked 3 31 2 31
ARMCX4 armadillo repeat containing, X-linked 4 296 3 296
ARMCX5 armadillo repeat containing, X-linked 5 13 4 13
ARMCX6 armadillo repeat containing, X-linked 6 32 2 32
ARSD arylsulfatase D 279 14 279
ARSE arylsulfatase E (chondrodysplasia punctata 1) 107 42 99
ARSF arylsulfatase F 598 16 598
ASB11 ankyrin repeat and SOCS box-containing 11 6 1 6
ASB12 ankyrin repeat and SOCS box-containing 12 5 3 5
ASB9 ankyrin repeat and SOCS box-containing 9 3 2 3
ASMT acetylserotonin O-methyltransferase 29 4 29
ASMTL acetylserotonin O-methyltransferase-like 439 14 439
ATP11C ATPase, class VI, type 11C 161 7 161
ATP1B4 ATPase, (Na+)/K+ transporting, beta 4 polypeptide 3 3 3
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3 231 6 231
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2 2 2 2
ATXN3L ataxin 3-like 84 4 84
AVPR2 arginine vasopressin receptor 2 11 5 11
AWAT1 acyl-CoA wax alcohol acyltransferase 1 56 4 56
AWAT2 Acyl-CoA wax alcohol acyltransferase 2 2 2 2
BCORL1 BCL6 co-repressor-like 1 25 7 25
BEND2 BEN domain containing 2 25 3 25
BEX2 brain expressed X-linked 2 2 2 2
BEX4 Protein BEX4 (Brain-expressed X-linked protein 4) 11 4 11
BGN biglycan 171 4 171
BHLHB9 basic helix-loop-helix domain containing, class B, 9 1 1 1
BMP15 bone morphogenetic protein 15 7 6 7
BMP2KL BMP2 inducible kinase-like 1 1 1
BMX BMX non-receptor tyrosine kinase 3 3 3
BRWD3 bromodomain and WD repeat domain containing 3 2 2 2
BTK Bruton agammaglobulinemia tyrosine kinase 40 7 40
C1GALT1C1 C1GALT1-specific chaperone 1 37 2 37
CA5B carbonic anhydrase VB, mitochondrial 67 2 67
CAPN6 calpain 6 17 5 17
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family) 3 3 3
CCDC120 coiled-coil domain containing 120 2 2 2
CCDC22 coiled-coil domain containing 22 183 5 183
CCNB3 cyclin B3 4 3 4
CD40LG CD40 ligand 39 2 39
CD99 CD99 molecule 22 4 22
CD99L2 CD99 molecule-like 2 4 2 4
CDK16 cyclin-dependent kinase 16 1 1 1
CDKL5 cyclin-dependent kinase-like 5 134 67 126
CDR1 cerebellar degeneration-related protein 1, 34kDa 3 3 3
CENPI centromere protein I 54 4 54
CFP complement factor properdin 28 3 28
CHRDL1 chordin-like 1 74 1 74
CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 46 1 46
CLCN4 chloride channel 4 10 5 10
CLCN5 chloride channel 5 2 2 2
CLDN2 claudin 2 1 1 1
CLIC2 chloride intracellular channel 2 1 1 1
CNGA2 cyclic nucleotide gated channel alpha 2 59 9 59
CNKSR2 connector enhancer of kinase suppressor of Ras 2 3 3 3
CPXCR1 CPX chromosome region, candidate 1 89 4 89
CSAG1 chondrosarcoma associated gene 1 5 2 5
CSAG4 Putative uncharacterized protein CSAG4 Fragment 37 1 37
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 101 5 101
CSTF2 cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 1 1 1
CT45A2 cancer/testis antigen family 45, member A2 144 1 144
CT45A5 cancer/testis antigen CT45-5 223 15 223
CTAG2 cancer/testis antigen 2 61 2 61
CTPS2 CTP synthase II 6 2 6
CXorf1 chromosome X open reading frame 1 2 1 2
CXorf15 chromosome X open reading frame 15 66 4 66
CXorf21 chromosome X open reading frame 21 123 2 123
CXorf22 chromosome X open reading frame 22 62 7 62
CXorf23 chromosome X open reading frame 23 1 1 1
CXorf24 Putative uncharacterized protein CXorf24 53 1 53
CXorf25 Putative uncharacterized protein CXorf25 6 2 6
CXorf27 chromosome X open reading frame 27 3 2 3
CXorf28 chromosome X open reading frame 28 18 2 18
CXorf30 Chromosome X open reading frame 30 Fragment 39 7 39
CXorf36 chromosome X open reading frame 36 67 1 67
CXorf38 chromosome X open reading frame 38 101 2 101
CXorf41 chromosome X open reading frame 41 1 1 1
CXorf56 chromosome X open reading frame 56 89 1 89
CXorf57 chromosome X open reading frame 57 2 2 2
CXorf58 chromosome X open reading frame 58 54 3 54
CXorf59 chromosome X open reading frame 59 2 2 2
CXorf64 Uncharacterized protein CXorf64 105 5 105
CXorf65 Uncharacterized protein LOC158830 55 1 55
CXorf66 chromosome X open reading frame 66 18 2 18
CYSLTR1 cysteinyl leukotriene receptor 1 139 1 139
DACH2 dachshund homolog 2 (Drosophila) 2 2 2
DCAF12L1 DDB1 and CUL4 associated factor 12-like 1 5 2 5
DCAF12L2 DDB1 and CUL4 associated factor 12-like 2 127 3 127
DCAF8L1 DDB1 and CUL4 associated factor 8-like 1 14 4 14
DDX3X DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked 1 1 1
DDX53 DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 54 5 54
DIAPH2 diaphanous homolog 2 (Drosophila) 4 3 4
DKC1 dyskeratosis congenita 1, dyskerin 5 1 5
DNASE1L1 deoxyribonuclease I-like 1 124 4 124
DRP2 dystrophin related protein 2 37 8 37
DUSP21 dual specificity phosphatase 21 16 3 16
DYNLT3 dynein, light chain, Tctex-type 3 22 1 22
EDA ectodysplasin A 54 36 54
EDA2R ectodysplasin A2 receptor 141 2 141
EGFL6 EGF-like-domain, multiple 6 11 5 11
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa 129 3 129
ELF4 E74-like factor 4 (ets domain transcription factor) 60 3 60
ELK1 ELK1, member of ETS oncogene family 6 4 6
ENOX2 ecto-NOX disulfide-thiol exchanger 2 1 1 1
ESX1 ESX homeobox 1 20 3 20
FAAH2 fatty acid amide hydrolase 2 66 4 66
FAM120C family with sequence similarity 120C 15 4 15
FAM122B family with sequence similarity 122B 8 3 8
FAM122C family with sequence similarity 122C 2 1 2
FAM123B family with sequence similarity 123B 6 3 6
FAM133A family with sequence similarity 133, member A 12 1 12
FAM155B family with sequence similarity 155, member B 1 1 1
FAM3A family with sequence similarity 3, member A 1 1 1
FAM45B family with sequence similarity 45, member B 0 0 0
FAM46D family with sequence similarity 46, member D 138 1 138
FAM47A family with sequence similarity 47, member A 23 2 23
FAM47B family with sequence similarity 47, member B 27 6 27
FAM47C family with sequence similarity 47, member C 7 4 7
FAM50A family with sequence similarity 50, member A 4 3 4
FAM9A family with sequence similarity 9, member A 5 2 5
FAM9C family with sequence similarity 9, member C 1 1 1
FATE1 fetal and adult testis expressed 1 19 2 19
FGD1 FYVE, RhoGEF and PH domain containing 1 41 34 41
FIGF c-fos induced growth factor (vascular endothelial growth factor D) 6 1 6
FLNA Filamin A, alpha (actin binding protein 280) 310 85 290
FMR1 fragile X mental retardation 1 22 2 22
FMR1NB fragile X mental retardation 1 neighbor 71 1 71
FOXO4 forkhead box O4 1 1 1
FOXP3 forkhead box P3 11 3 11
FOXR2 Forkhead box protein R2 (Forkhead box protein N6) 117 3 117
FRMD7 FERM domain-containing protein 7 122 7 122
FRMPD3 FERM and PDZ domain containing 3 0 0 0
FRMPD4 FERM and PDZ domain containing 4 20 4 20
FTHL17 ferritin, heavy polypeptide-like 17 11 1 11
FTSJ1 FtsJ homolog 1 (E. coli) 2 2 2
FUNDC1 FUN14 domain containing 1 8 2 8
GAB3 GRB2-associated binding protein 3 14 3 14
GABRE gamma-aminobutyric acid (GABA) A receptor, epsilon 122 4 122
GABRQ gamma-aminobutyric acid (GABA) receptor, theta 66 4 66
GDPD2 glycerophosphodiester phosphodiesterase domain containing 2 18 3 18
GEMIN8 gem (nuclear organelle) associated protein 8 2 1 2
GLA galactosidase, alpha 2 1 2
GLOD5 glyoxalase domain containing 5 0 0 0
GLRA2 glycine receptor, alpha 2 67 2 67
GLRA4 glycine receptor, alpha 4 218 4 218
GLUD2 glutamate dehydrogenase 2 6 1 6
GNL3L guanine nucleotide binding protein-like 3 (nucleolar)-like 8 6 8
GPC4 glypican 4 102 3 102
GPKOW G patch domain and KOW motifs-containing protein (G patch domain-containing protein 5) 2 2 2
GPM6B glycoprotein M6B 2 1 2
GPR101 G protein-coupled receptor 101 120 5 120
GPR112 G protein-coupled receptor 112 1134 24 1134
GPR119 G protein-coupled receptor 119 2 2 2
GPR173 G protein-coupled receptor 173 53 2 53
GPR174 G protein-coupled receptor 174 103 3 103
GPR50 G protein-coupled receptor 50 273 9 273
GPR64 G protein-coupled receptor 64 5 3 5
GPR82 G protein-coupled receptor 82 24 1 24
GPRASP1 G protein-coupled receptor associated sorting protein 1 15 3 15
GPRASP2 G protein-coupled receptor associated sorting protein 2 6 3 6
GRIA3 glutamate receptor, ionotrophic, AMPA 3 111 2 111
GRIPAP1 GRIP1 associated protein 1 6 4 6
GRPR gastrin-releasing peptide receptor 91 5 91
GSPT2 G1 to S phase transition 2 3 3 3
GTPBP6 GTP binding protein 6 (putative) 0 0 0
GUCY2F guanylate cyclase 2F, retinal 23 9 23
GYG2 glycogenin 2 313 5 313
H2BFWT H2B histone family, member W, testis-specific 8 2 8
HAUS7 HAUS augmin-like complex, subunit 7 5 4 5
HCCS holocytochrome c synthase (cytochrome c heme-lyase) 6 1 6
HCFC1 host cell factor C1 (VP16-accessory protein) 184 13 184
HDAC4 histone deacetylase 4 0 0 0
HDAC6 histone deacetylase 6 7 4 7
HDAC8 histone deacetylase 8 5 2 5
HDHD1A haloacid dehalogenase-like hydrolase domain containing 1A 0 0 0
HDX Highly divergent homeobox 62 2 62
HEPH hephaestin 100 8 100
HMGN5 high-mobility group nucleosome binding domain 5 1 1 1
HNRNPH2 60S ribosomal protein L36a (60S ribosomal protein L44) 6 2 6
HS6ST2 heparan sulfate 6-O-sulfotransferase 2 0 0 0
HTATSF1 HIV-1 Tat specific factor 1 22 3 22
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C 20 2 20
HUWE1 HECT, UBA and WWE domain containing 1 111 11 111
IDS iduronate 2-sulfatase 377 156 366
IGBP1 immunoglobulin (CD79A) binding protein 1 3 3 3
IGSF1 Immunoglobulin superfamily, member 1 194 22 194
IL13RA1 interleukin 13 receptor, alpha 1 6 1 6
IL13RA2 interleukin 13 receptor, alpha 2 2 2 2
IL1RAPL2 interleukin 1 receptor accessory protein-like 2 21 3 21
IL2RG interleukin 2 receptor, gamma (severe combined immunodeficiency) 1 1 1
IL9R interleukin 9 receptor 1 1 1
INE1 inactivation escape 1 (non-protein coding) 0 0 0
IRAK1 interleukin-1 receptor-associated kinase 1 330 4 330
IRS4 insulin receptor substrate 4 40 5 40
ITIH5L inter-alpha (globulin) inhibitor H5-like 0 0 0
ITIH6 inter-alpha-trypsin inhibitor heavy chain family, member 6 32 9 32
ITM2A integral membrane protein 2A 6 2 6
KAL1 Kallmann syndrome 1 sequence 195 5 195
KCND1 potassium voltage-gated channel, Shal-related subfamily, member 1 2 2 2
KCNE1L KCNE1-like 17 1 17
KDM6A Lysine (K)-specific demethylase 6A 67 13 67
KIAA2022 Uncharacterized protein KIAA2022 8 5 8
KIF4A kinesin family member 4A 28 7 28
KLHL13 Kelch-like protein 13 (BTB and kelch domain-containing protein 2) 20 2 20
KLHL15 kelch-like 15 (Drosophila) 2 2 2
KLHL4 kelch-like 4 (Drosophila) 179 3 179
LANCL3 LanC lantibiotic synthetase component C-like 3 (bacterial) 50 3 50
LAS1L LAS1-like (S. cerevisiae) 1 1 1
LHFPL1 lipoma HMGIC fusion partner-like 1 12 1 12
LONRF3 LON peptidase N-terminal domain and ring finger 3 94 7 94
LPAR4 Lysophosphatidic acid receptor 4 1 1 1
LRCH2 leucine-rich repeats and calponin homology (CH) domain containing 2 7 5 7
LUZP4 leucine zipper protein 4 46 5 46
MAGEA1 melanoma antigen family A, 1 (directs expression of antigen MZ2-E) 60 4 60
MAGEA11 melanoma antigen family A, 11 99 1 99
MAGEA12 melanoma antigen family A, 12 72 2 72
MAGEA3 melanoma antigen family A, 3 75 3 75
MAGEA4 melanoma antigen family A, 4 212 5 212
MAGEA5 Melanoma-associated antigen 5 (MAGE-5 antigen) 17 10 17
MAGEA8 melanoma antigen family A, 8 132 3 132
MAGEB1 melanoma antigen family B, 1 4 2 4
MAGEB10 Melanoma-associated antigen B10 (MAGE-B10 antigen) 159 4 159
MAGEB18 melanoma antigen family B, 18 43 4 43
MAGEB2 melanoma antigen family B, 2 321 6 321
MAGEB3 melanoma antigen family B, 3 252 3 252
MAGEB4 melanoma antigen family B, 4 3 3 3
MAGEB5 Melanoma-associated antigen B5 (MAGE-B5 antigen) 1 1 1
MAGEB6 melanoma antigen family B, 6 51 11 51
MAGEC1 melanoma antigen family C, 1 70 8 70
MAGEC2 melanoma antigen family C, 2 142 3 142
MAGEC3 melanoma antigen family C, 3 27 4 27
MAGED1 melanoma antigen family D, 1 36 3 36
MAGED2 melanoma antigen family D, 2 279 5 279
MAGEE1 melanoma antigen family E, 1 4 4 4
MAGEE2 melanoma antigen family E, 2 11 3 11
MAGEH1 melanoma antigen family H, 1 47 3 47
MAGT1 Magnesium transporter protein 1 Precursor (MagT1) 1 1 1
MAMLD1 Uncharacterized protein CXorf64 20 4 20
MAOA monoamine oxidase A 175 3 175
MAOB monoamine oxidase B 3 2 3
MAP3K15 mitogen-activated protein kinase kinase kinase 15 5 4 5
MAP7D2 MAP7 domain containing 2 45 4 45
MAP7D3 MAP7 domain containing 3 230 12 230
MBNL3 muscleblind-like 3 (Drosophila) 1 1 1
MBTPS1 membrane-bound transcription factor peptidase, site 1 0 0 0
MBTPS2 Membrane-Bound Transcription factor Peptidase, site 2 139 32 123
MCF2 MCF.2 cell line derived transforming sequence 124 5 124
MECP2 methyl CpG binding protein 2 (Rett syndrome) 16 11 15
MED14 Mediator of RNA polymerase II transcription subunit 14 (Mediator complex subunit 14) 5 3 5
MID1 midline 1 (Opitz/BBB syndrome) 7 4 7
MID2 Midline 2 33 5 33
MORC4 MORC family CW-type zinc finger 4 7 3 7
MOSPD2 Motile sperm domain-containing protein 2 7 4 7
MPP1 membrane protein, palmitoylated 1, 55kDa 150 4 150
MSL3 male-specific lethal 3 homolog (Drosophila) 2 2 2
MSN moesin 3 1 3
MTMR1 myotubularin related protein 1 109 1 109
MTMR8 myotubularin related protein 8 3 3 3
MUM1L1 melanoma associated antigen (mutated) 1-like 1 14 3 14
MXRA5 matrix-remodelling associated 5 729 23 729
NAP1L2 nucleosome assembly protein 1-like 2 0 0 0
NAP1L3 nucleosome assembly protein 1-like 3 129 3 129
NAP1L6 Putative nucleosome assembly protein 1-like 6 1 1 1
NCBP2L nuclear cap binding protein subunit 2-like 0 0 0
NCRNA00105 Non-protein coding RNA 105 124 5 124
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 4 2 4
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies) 21 9 21
NHSL2 NHS-like protein 2 10 4 10
NKAP NF-kappa-B-activating protein 9 1 9
NKRF NFKB repressing factor 2 1 2
NLGN3 neuroligin 3 1 1 1
NLGN4X neuroligin 4, X-linked 132 9 132
NOX1 NADPH oxidase 1 0 0 0
NRK Nik-related protein kinase (EC 2.7.11.1) 56 7 56
NSDHL NAD(P) dependent steroid dehydrogenase-like 51 3 51
NUP62CL nucleoporin 62kDa C-terminal like 20 4 20
NXF3 nuclear RNA export factor 3 2 2 2
NXF5 nuclear RNA export factor 5 32 2 32
ODZ1 odz, odd Oz/ten-m homolog 1(Drosophila) 138 14 138
OFD1 Oral-facial-digital syndrome 1 3 2 3
OGT O-linked N-acetylglucosamine (GlcNAc) transferase 4 4 4
P2RY10 purinergic receptor P2Y, G-protein coupled, 10 5 1 5
P2RY4 pyrimidinergic receptor P2Y, G-protein coupled, 4 60 6 60
P2RY8 purinergic receptor P2Y, G-protein coupled, 8 2 2 2
PABPC5 poly(A) binding protein, cytoplasmic 5 2 1 2
PAGE1 P antigen family, member 1 (prostate associated) 9 2 9
PAGE3 P antigen family, member 3 (prostate associated) 175 2 175
PASD1 PAS domain containing 1 122 11 122
PCDH11X protocadherin 11 X-linked 4 1 4
PCDH19 Protocadherin 19 276 96 269
PCNT pericentrin 34 16 17
PCYT1B phosphate cytidylyltransferase 1, choline, beta 2 2 2
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 7 2 7
PFKFB1 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 1 1 1
PGAM4 phosphoglycerate mutase family member 4 11 2 11
PGK1 phosphoglycerate kinase 1 5 4 5
PGRMC1 progesterone receptor membrane component 1 3 2 3
PHF16 PHD finger protein 16 5 2 5
PHF8 PHD finger protein 8 6 3 6
PHKA1 phosphorylase kinase, alpha 1 (muscle) 3 1 3
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 2 2 2
PIGV phosphatidylinositol glycan anchor biosynthesis, class V 16 4 8
PIM2 pim-2 oncogene 2 1 2
PIN4 protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin) 37 4 37
PIR pirin (iron-binding nuclear protein) 18 1 18
PJA1 praja ring finger 1 116 5 116
PLCXD1 phosphatidylinositol-specific phospholipase C, X domain containing 1 98 11 98
PLP1 proteolipid protein 1 74 5 74
PLP2 proteolipid protein 2 (colonic epithelium-enriched) 2 1 2
PLS3 plastin 3 (T isoform) 17 5 17
PLXNA3 plexin A3 51 11 51
PLXNB3 plexin B3 5 4 5
PNMA3 paraneoplastic antigen MA3 167 2 167
PNMA5 paraneoplastic antigen like 5 17 2 17
PNMA6A paraneoplastic antigen like 6A 0 0 0
PNPLA4 patatin-like phospholipase domain containing 4 3 3 3
POF1B premature ovarian failure, 1B 27 4 27
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit 20 5 20
POU3F4 POU class 3 homeobox 4 100 40 106
PPEF1 protein phosphatase, EF-hand calcium binding domain 1 17 1 17
PPP1R3F protein phosphatase 1, regulatory (inhibitor) subunit 3F 5 5 5
PPP2R3B protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta 86 8 86
PQBP1 polyglutamine binding protein 1 2 2 2
PRDX4 peroxiredoxin 4 1 1 1
PRICKLE3 Prickle-like protein 3 (LIM domain only protein 6) 15 2 15
PRKX protein kinase, X-linked 95 1 95
PRPS1 phosphoribosyl pyrophosphate synthetase 1 2 2 2
PRPS2 phosphoribosyl pyrophosphate synthetase 2 39 1 39
PRRG1 proline rich Gla (G-carboxyglutamic acid) 1 4 3 4
PRRG3 proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 181 3 181
PSMD10 proteasome (prosome, macropain) 26S subunit, non-ATPase, 10 1 1 1
PTCHD1 patched domain containing 1 98 3 98
RAB33A RAB33A, member RAS oncogene family 4 2 4
RAB39B RAB39B, member RAS oncogene family 1 1 1
RAB40A RAB40A, member RAS oncogene family 59 4 59
RAB40AL RAB40A, member RAS oncogene family-like 6 5 6
RAB41 Ras-related protein Rab-41 2 2 2
RAB9B RAB9B, member RAS oncogene family 1 1 1
RAI2 retinoic acid induced 2 6 2 6
RBM10 RNA binding motif protein 10 15 5 15
RBM41 RNA binding motif protein 41 1 1 1
RBMX RNA binding motif protein, X-linked 1 1 1
RENBP renin binding protein 0 0 0
REPS2 RALBP1 associated Eps domain containing 2 2 1 2
RGAG1 retrotransposon gag domain containing 1 104 7 104
RGAG4 retrotransposon gag domain containing 4 0 0 0
RIPPLY1 Protein ripply1 1 1 1
RLIM ring finger protein, LIM domain interacting 5 2 5
RNF113A ring finger protein 113A 3 1 3
RNF128 ring finger protein 128 1 1 1
RPA4 replication protein A4, 34kDa 93 3 93
RPL10 ribosomal protein L10 119 1 119
RPL36A ribosomal protein L36a 1 1 1
RPL39 ribosomal protein L39 3 1 3
RPL9P7 ribosomal protein L9 pseudogene 7 1 1 1
RPS26P11 ribosomal protein S26 pseudogene 11 1 1 1
RPS4X ribosomal protein S4, X-linked 116 1 116
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3 3 3 3
RPS6KA6 ribosomal protein S6 kinase, 90kDa, polypeptide 6 14 3 14
SAGE1 sarcoma antigen 1 273 14 273
SASH3 SAM and SH3 domain containing 3 1 1 1
SATL1 spermidine/spermine N1-acetyl transferase-like 1 134 8 134
SCML2 sex comb on midleg-like 2 (Drosophila) 30 1 30
SEPT6 septin 6 12 2 12
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 28 3 28
SFRS17A splicing factor, arginine/serine-rich 17A 128 12 128
SH3KBP1 SH3-domain kinase binding protein 1 4 3 4
SHOX Short stature homeobox 2199 1168 2229
SHROOM2 shroom family member 2 46 13 46
SHROOM4 shroom family member 4 65 11 65
SIAH1L seven in absentia homolog 1-like (Drosophila) 1 1 1
SLC10A3 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 2 2 2
SLC25A14 solute carrier family 25 (mitochondrial carrier, brain), member 14 1 1 1
SLC25A43 solute carrier family 25, member 43 117 2 117
SLC25A5 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 189 2 189
SLC25A6 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 15 4 15
SLC38A5 solute carrier family 38, member 5 13 1 13
SLC6A14 solute carrier family 6 (amino acid transporter), member 14 29 7 29
SLC6A8 solute carrier family 6 (neurotransmitter transporter, creatine), member 8 0 0 0
SLC7A3 solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 158 10 158
SLC9A7 solute carrier family 9 (sodium/hydrogen exchanger), member 7 96 4 96
SLITRK2 SLIT and NTRK-like family, member 2 154 5 154
SLITRK4 SLIT and NTRK-like protein 4 Precursor 1 1 1
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 6 4 6
SMS spermine synthase 4 2 4
SOX3 SRY (sex determining region Y)-box 3 9 2 9
SPANXN1 Sperm protein associated with the nucleus on the X chromosome N1 (SPANX-N1) 2 1 2
SPANXN4 SPANX family, member N4 4 2 4
SPIN2A spindlin family, member 2A 3 1 3
SRPK3 SFRS protein kinase 3 1 1 1
SRPX sushi-repeat-containing protein, X-linked 14 4 14
SRPX2 sushi-repeat-containing protein, X-linked 2 1 1 1
SSX1 synovial sarcoma, X breakpoint 1 1 1 1
SSX3 synovial sarcoma, X breakpoint 3 4 1 4
SSX5 synovial sarcoma, X breakpoint 5 12 2 12
SSX6 synovial sarcoma, X breakpoint 6 3 3 3
STARD8 StAR-related lipid transfer (START) domain containing 8 31 5 31
SUV39H1 suppressor of variegation 3-9 homolog 1 (Drosophila) 1 1 1
SYAP1 synapse associated protein 1, SAP47 homolog (Drosophila) 1 1 1
SYN1 synapsin I 71 4 71
SYP synaptophysin 1 1 1
SYTL4 synaptotagmin-like 4 7 3 7
SYTL5 synaptotagmin-like 5 144 9 144
TAB3 TGF-beta activated kinase 1/MAP3K7 binding protein 3 1 1 1
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 8 7 8
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 30 5 30
TAF9B TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 1 1 1
TBC1D8B TBC1 domain family, member 8B (with GRAM domain) 3 3 3
TCEAL2 transcription elongation factor A (SII)-like 2 33 3 33
TCEAL4 transcription elongation factor A (SII)-like 4 72 2 72
TCEAL5 transcription elongation factor A (SII)-like 5 2 2 2
TCEAL8 transcription elongation factor A (SII)-like 8 1 1 1
TEX11 testis expressed 11 23 6 23
TEX13A testis expressed 13A 0 0 0
TEX13B testis expressed 13B 4 3 4
TFDP3 transcription factor Dp family, member 3 0 0 0
TFE3 transcription factor binding to IGHM enhancer 3 65 2 65
THOC2 THO complex 2 2 2 2
TIMM17B translocase of inner mitochondrial membrane 17 homolog B (yeast) 77 1 77
TIMP1 TIMP metallopeptidase inhibitor 1 66 4 66
TLR7 toll-like receptor 7 52 4 52
TLR8 toll-like receptor 8 227 8 227
TMEM187 transmembrane protein 187 104 6 104
TMEM27 transmembrane protein 27 1 1 1
TMLHE trimethyllysine hydroxylase, epsilon 1 1 1
TNMD tenomodulin 60 2 60
TRMT2B TRM2 tRNA methyltransferase 2 homolog B (S. cerevisiae) 20 2 20
TRO trophinin 20 4 20
TRPC5 transient receptor potential cation channel, subfamily C, member 5 13 4 13
TSPAN6 tetraspanin 6 39 3 39
TSPYL2 TSPY-like 2 1 1 1
UBA1 ubiquitin-like modifier activating enzyme 1 3 2 3
UBE2NL ubiquitin-conjugating enzyme E2N-like 118 2 118
UBQLN2 ubiquilin 2 3 2 3
UPRT uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) 142 3 142
USP11 ubiquitin specific peptidase 11 6 5 6
USP26 ubiquitin specific peptidase 26 100 9 100
USP51 Ubiquitin carboxyl-terminal hydrolase 51 (EC 3.1.2.15)(Ubiquitin thioesterase 51) 1 1 1
VAMP7 vesicle-associated membrane protein 7 1 1 1
VBP1 von Hippel-Lindau binding protein 1 1 1 1
VGLL1 vestigial like 1 (Drosophila) 7 1 7
VSIG1 V-set and immunoglobulin domain containing 1 7 1 7
VSIG4 V-set and immunoglobulin domain containing 4 10 5 10
WDR13 WD repeat domain 13 1 1 1
WDR44 WD repeat domain 44 66 5 66
WNK3 WNK lysine deficient protein kinase 3 5 5 5
WWC3 WWC family member 3 17 8 17
XG Xg blood group 36 1 36
XIAP X-linked inhibitor of apoptosis 165 6 165
XK X-linked Kx blood group (McLeod syndrome) 1 1 1
XKRX XK, Kell blood group complex subunit-related, X-linked 9 6 9
XPNPEP2 X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound 49 8 49
YY2 YY2 transcription factor 1 1 1
ZBED1 zinc finger, BED-type containing 1 42 8 42
ZBTB33 zinc finger and BTB domain containing 33 3 3 3
ZC3H12B zinc finger CCCH-type containing 12B 0 0 0
ZC4H2 Hepatocellular carcinoma-associated antigen 127 1 1 1
ZCCHC13 zinc finger, CCHC domain containing 13 3 3 3
ZCCHC5 zinc finger, CCHC domain containing 5 35 2 35
ZFX zinc finger protein, X-linked 50 6 50
ZMAT1 zinc finger, matrin type 1 2 1 2
ZMYM3 zinc finger, MYM-type 3 3 2 3
ZNF182 zinc finger protein 182 2 1 2
ZNF185 zinc finger protein 185 (LIM domain) 0 0 0
ZNF275 zinc finger protein 275 0 0 0
ZNF280C zinc finger protein 280C 78 1 78
ZNF41 zinc finger protein 41 17 6 17
ZNF449 zinc finger protein 449 20 3 20
ZNF630 zinc finger protein 630 32 6 32
ZNF645 zinc finger protein 645 41 3 41
ZNF673 zinc finger family member 673 2 2 2
ZNF711 zinc finger protein 711 0 0 0
ZNF75D Zinc finger protein 75D (Zinc finger protein 75) 86 1 86
ZNF81 zinc finger protein 81 3 2 3
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 94 2 94
ZXDA zinc finger, X-linked, duplicated A 38 3 38
  Total of 501 gene entries 27982 3983 27527