WP_22Q112_COPY_NUMBER_VARIATION_SYNDROME |
Return to index |
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Order |
Gene |
Description |
ref_hepatocyte |
HepG2 |
HepG2.C3A |
HuH.7 |
SNU475 |
THLE |
liver |
1 |
RAN |
GTP-binding nuclear protein Ran |
[1] |
-0.31[2] |
-0.43[3] |
-0.96[4] |
-0.89[5] |
-0.56[6] |
-2.05[7] |
2 |
GLUD1 |
Glutamate dehydrogenase 1, mitochondrial |
[8] |
-0.80[9] |
0.38[10] |
-0.73[11] |
-3.15[12] |
-2.18[13] |
0.93[14] |
3 |
SERPIND1 |
Heparin cofactor 2 |
[15] |
-1.21[16] |
-0.50[17] |
-1.23[18] |
-9.24[19] |
-8.34[20] |
-0.59[21] |
4 |
CDC42 |
Cell division control protein 42 homolog |
[22] |
-0.77[23] |
-0.30[24] |
-1.18[25] |
-0.27[26] |
-0.89[27] |
-2.19[28] |
5 |
RANBP1 |
Ran-specific GTPase-activating protein |
[29] |
-1.41[30] |
-1.70[31] |
-1.52[32] |
-2.16[33] |
-1.39[34] |
-3.29[35] |
6 |
RTN4 |
Reticulon-4 |
[36] |
-0.58[37] |
-1.51[38] |
-0.84[39] |
0.07[40] |
0.27[41] |
-0.29[42] |
7 |
ALDH4A1 |
Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial |
[43] |
-0.93[44] |
0.55[45] |
-3.64[46] |
-3.63[47] |
-4.53[48] |
0.83[49] |
8 |
CLDN1 |
Claudin-1 |
[50] |
-1.19[51] |
-0.93[52] |
0.93[53] |
-5.24[54] |
-2.41[55] |
-0.22[56] |
9 |
RBX1 |
E3 ubiquitin-protein ligase RBX1 |
[57] |
-2.00[58] |
-1.82[59] |
-1.81[60] |
-2.44[61] |
-1.91[62] |
-2.21[63] |
10 |
KPNB1 |
Importin subunit beta-1 |
[64] |
0.97[65] |
0.88[66] |
1.30[67] |
1.46[68] |
1.17[69] |
-0.66[70] |
11 |
COMT |
Catechol O-methyltransferase |
[71] |
-0.58[72] |
-0.23[73] |
-2.27[74] |
-1.47[75] |
-1.32[76] |
0.26[77] |
12 |
SLC25A1 |
Tricarboxylate transport protein, mitochondrial |
[78] |
-0.38[79] |
-0.38[80] |
-0.30[81] |
-0.81[82] |
-1.49[83] |
-0.50[84] |
13 |
MRPL40 |
39S ribosomal protein L40, mitochondrial |
[85] |
[86] |
[87] |
[88] |
[89] |
[90] |
[91] |
14 |
PPP1CB |
Serine/threonine-protein phosphatase PP1-beta catalytic subunit |
[92] |
-0.18[93] |
0.13[94] |
0.35[95] |
1.03[96] |
0.95[97] |
0.39[98] |
15 |
SREBF1 |
Sterol regulatory element-binding protein 1 |
[99] |
-0.72[100] |
-0.68[101] |
-0.01[102] |
-1.27[103] |
-0.99[104] |
0.38[105] |
16 |
DGCR6L |
Protein DGCR6L |
[106] |
-2.50[107] |
-2.47[108] |
-3.16[109] |
-2.46[110] |
-1.89[111] |
-0.67[112] |
17 |
RANGAP1 |
Ran GTPase-activating protein 1 |
[113] |
0.70[114] |
0.15[115] |
0.13[116] |
-0.11[117] |
0.86[118] |
-1.09[119] |
18 |
RCC1 |
Regulator of chromosome condensation |
[120] |
0.31[121] |
0.96[122] |
-0.21[123] |
-0.34[124] |
-0.55[125] |
-2.60[126] |
19 |
OAT |
Ornithine aminotransferase, mitochondrial |
[127] |
-0.20[128] |
0.64[129] |
-0.83[130] |
-0.69[131] |
0.47[132] |
0.08[133] |
20 |
RAF1 |
RAF proto-oncogene serine/threonine-protein kinase |
[134] |
-0.01[135] |
0.15[136] |
1.54[137] |
0.08[138] |
1.05[139] |
0.99[140] |
21 |
TXNRD2 |
Thioredoxin reductase 2, mitochondrial |
[141] |
-1.19[142] |
-1.50[143] |
-1.83[144] |
-1.58[145] |
-1.21[146] |
-0.41[147] |
22 |
XPO1 |
Exportin-1 |
[148] |
1.42[149] |
1.88[150] |
2.04[151] |
2.40[152] |
2.59[153] |
0.75[154] |
23 |
CLDN3 |
Claudin-3 |
[155] |
-5.45[156] |
-2.42[157] |
-3.72[158] |
-4.28[159] |
-9.38[160] |
-1.15[161] |
24 |
HDAC3 |
Histone deacetylase 3 |
[162] |
0.54[163] |
0.34[164] |
0.28[165] |
0.22[166] |
0.47[167] |
-0.51[168] |
25 |
THAP7 |
THAP domain-containing protein 7 |
[169] |
-1.71[170] |
-1.42[171] |
-1.06[172] |
-1.20[173] |
-0.66[174] |
-1.43[175] |
26 |
SREBF2 |
Sterol regulatory element-binding protein 2 |
[176] |
1.32[177] |
1.92[178] |
3.23[179] |
-0.07[180] |
0.32[181] |
1.37[182] |
27 |
MED15 |
Mediator of RNA polymerase II transcription subunit 15 |
[183] |
1.19[184] |
0.14[185] |
0.08[186] |
1.53[187] |
1.43[188] |
-0.58[189] |
28 |
RORC |
Nuclear receptor ROR-gamma |
[190] |
-1.27[191] |
-0.83[192] |
-10.71[193] |
-4.23[194] |
-6.14[195] |
0.10[196] |
29 |
TNPO1 |
Transportin-1 |
[197] |
1.79[198] |
2.19[199] |
2.19[200] |
3.76[201] |
3.27[202] |
1.96[203] |
30 |
CRKL |
Crk-like protein |
[204] |
1.76[205] |
1.61[206] |
2.34[207] |
1.39[208] |
1.69[209] |
1.34[210] |
31 |
POLR2A |
DNA-directed RNA polymerase II subunit RPB1 |
[211] |
2.79[212] |
1.08[213] |
2.20[214] |
2.42[215] |
2.91[216] |
1.68[217] |
32 |
TRMT2A |
tRNA (uracil-5-)-methyltransferase homolog A |
[218] |
-0.40[219] |
-0.20[220] |
0.46[221] |
0.03[222] |
0.66[223] |
-0.05[224] |
33 |
FOXA2 |
Hepatocyte nuclear factor 3-beta |
[225] |
0.57[226] |
0.62[227] |
1.16[228] |
-7.28[229] |
-7.80[230] |
-0.59[231] |
34 |
SHOC2 |
Leucine-rich repeat protein SHOC-2 |
[232] |
-0.70[233] |
0.41[234] |
0.15[235] |
0.39[236] |
0.78[237] |
0.58[238] |
35 |
DGCR2 |
Integral membrane protein DGCR2/IDD |
[239] |
1.75[240] |
0.86[241] |
1.68[242] |
1.39[243] |
1.28[244] |
0.99[245] |
36 |
SNAP29 |
Synaptosomal-associated protein 29 |
[246] |
0.23[247] |
0.12[248] |
0.77[249] |
0.39[250] |
1.02[251] |
0.40[252] |
37 |
HES1 |
Transcription factor HES-1 |
[253] |
-0.38[254] |
-3.13[255] |
-0.75[256] |
-1.01[257] |
-1.74[258] |
-1.51[259] |
38 |
PI4KA |
Phosphatidylinositol 4-kinase alpha |
[260] |
0.95[261] |
0.76[262] |
1.47[263] |
1.14[264] |
1.44[265] |
1.47[266] |
39 |
NCOR1 |
Nuclear receptor corepressor 1 |
[267] |
1.14[268] |
1.39[269] |
2.17[270] |
1.83[271] |
1.98[272] |
2.69[273] |
40 |
SRF |
Serum response factor |
[274] |
1.52[275] |
0.83[276] |
0.23[277] |
1.81[278] |
0.99[279] |
-0.89[280] |
41 |
CHRD |
Chordin |
[281] |
-1.39[282] |
0.95[283] |
-1.34[284] |
-4.46[285] |
-5.90[286] |
1.51[287] |
42 |
CUL3 |
Cullin-3 |
[288] |
0.67[289] |
1.33[290] |
1.18[291] |
1.73[292] |
1.92[293] |
0.83[294] |
43 |
NPRL2 |
GATOR complex protein NPRL2 |
[295] |
-0.46[296] |
-0.26[297] |
0.10[298] |
-1.34[299] |
-0.43[300] |
-0.57[301] |
44 |
HIRA |
Protein HIRA |
[302] |
1.57[303] |
1.74[304] |
1.84[305] |
0.76[306] |
1.26[307] |
0.64[308] |
45 |
EGFR |
Epidermal growth factor receptor |
[309] |
-0.64[310] |
-1.26[311] |
1.74[312] |
0.70[313] |
1.42[314] |
2.54[315] |
46 |
ARNTL |
Aryl hydrocarbon receptor nuclear translocator-like protein 1 |
[316] |
-2.02[317] |
-1.76[318] |
-2.60[319] |
-0.78[320] |
-0.50[321] |
0.68[322] |
47 |
TP53 |
Cellular tumor antigen p53 |
[323] |
1.69[324] |
1.01[325] |
1.89[326] |
1.56[327] |
1.32[328] |
-0.15[329] |
48 |
ASF1A |
Histone chaperone ASF1A |
[330] |
0.90[331] |
1.32[332] |
0.28[333] |
1.50[334] |
1.19[335] |
-0.07[336] |
49 |
PLK1 |
Serine/threonine-protein kinase PLK1 |
[337] |
2.55[338] |
2.04[339] |
2.03[340] |
1.51[341] |
2.65[342] |
-2.74[343] |
50 |
PAK4 |
Serine/threonine-protein kinase PAK 4 |
[344] |
0.95[345] |
0.74[346] |
1.56[347] |
1.29[348] |
1.11[349] |
-0.44[350] |
51 |
ACTA2 |
Actin, aortic smooth muscle |
[351] |
2.18[352] |
1.46[353] |
-4.69[354] |
5.32[355] |
1.26[356] |
2.89[357] |
52 |
LZTR1 |
Leucine-zipper-like transcriptional regulator 1 |
[358] |
1.30[359] |
0.98[360] |
0.97[361] |
1.18[362] |
1.85[363] |
1.22[364] |
53 |
HIRIP3 |
HIRA-interacting protein 3 |
[365] |
0.65[366] |
0.62[367] |
0.60[368] |
-0.17[369] |
0.69[370] |
-0.63[371] |
54 |
C22orf39 |
UPF0545 protein C22orf39 |
[372] |
0.59[373] |
0.46[374] |
1.02[375] |
0.76[376] |
0.52[377] |
-0.06[378] |
55 |
DROSHA |
Ribonuclease 3 |
[379] |
1.54[380] |
1.26[381] |
1.42[382] |
2.23[383] |
2.68[384] |
0.79[385] |
56 |
DGCR8 |
Microprocessor complex subunit DGCR8 |
[386] |
1.38[387] |
0.94[388] |
1.25[389] |
1.52[390] |
1.81[391] |
1.37[392] |
57 |
CBX5 |
Chromobox protein homolog 5 |
[393] |
2.00[394] |
2.84[395] |
3.89[396] |
3.78[397] |
4.02[398] |
2.99[399] |
58 |
ARVCF |
Armadillo repeat protein deleted in velo-cardio-facial syndrome |
[400] |
1.02[401] |
0.74[402] |
-0.85[403] |
-1.37[404] |
-1.49[405] |
0.72[406] |
59 |
NPRL3 |
GATOR complex protein NPRL3 |
[407] |
1.69[408] |
0.93[409] |
1.24[410] |
1.16[411] |
1.26[412] |
0.03[413] |
60 |
CDC45 |
Cell division control protein 45 homolog |
[414] |
1.26[415] |
0.96[416] |
1.75[417] |
1.52[418] |
1.96[419] |
-3.02[420] |
61 |
ZDHHC8 |
Probable palmitoyltransferase ZDHHC8 |
[421] |
1.64[422] |
1.32[423] |
0.94[424] |
1.97[425] |
2.36[426] |
0.38[427] |
62 |
MALT1 |
Mucosa-associated lymphoid tissue
lymphoma translocation protein 1 |
2.91[428] |
2.51[429] |
2.05[430] |
2.31[431] |
1.69[432] |
2.15[433] |
63 |
KLHL22 |
Kelch-like protein 22 |
[434] |
0.95[435] |
0.48[436] |
0.43[437] |
1.21[438] |
1.39[439] |
0.32[440] |
64 |
RELN |
Reelin |
[441] |
6.34[442] |
-1.36[443] |
3.50[444] |
-3.17[445] |
-4.26[446] |
4.48[447] |
65 |
RTN4R |
Reticulon-4 receptor |
[448] |
-3.02[449] |
-3.38[450] |
-1.77[451] |
-1.69[452] |
-2.08[453] |
-1.33[454] |
66 |
DEPDC5 |
GATOR complex protein DEPDC5 |
[455] |
0.58[456] |
0.57[457] |
1.32[458] |
1.19[459] |
0.42[460] |
1.73[461] |
67 |
FGFR2 |
Fibroblast growth factor receptor 2 |
[462] |
-2.45[463] |
-1.50[464] |
2.57[465] |
1.72[466] |
-3.02[467] |
3.31[468] |
68 |
SHH |
Sonic hedgehog protein |
[469] |
0.44[470] |
0.04[471] |
0.24[472] |
-6.91[473] |
-6.95[474] |
0.02[475] |
69 |
ZNF74 |
Zinc finger protein 74 |
[476] |
1.74[477] |
0.30[478] |
0.68[479] |
1.42[480] |
0.57[481] |
-0.06[482] |
70 |
GNB1L |
Guanine nucleotide-binding protein subunit beta-like protein 1 |
[483] |
0.31[484] |
-0.07[485] |
1.88[486] |
0.93[487] |
0.28[488] |
-0.22[489] |
71 |
PRODH |
Proline dehydrogenase 1, mitochondrial |
[490] |
-1.57[491] |
-4.01[492] |
0.12[493] |
-2.97[494] |
-2.92[495] |
1.43[496] |
72 |
FGFR1 |
Fibroblast growth factor receptor 1 |
[497] |
4.63[498] |
2.70[499] |
4.48[500] |
5.32[501] |
4.69[502] |
1.55[503] |
73 |
CLTCL1 |
Clathrin heavy chain 2 |
[504] |
2.14[505] |
1.44[506] |
1.42[507] |
2.17[508] |
1.71[509] |
1.64[510] |
74 |
CLDN5 |
Claudin-5 |
[511] |
-3.62[512] |
-3.41[513] |
-5.26[514] |
-6.53[515] |
-3.76[516] |
2.69[517] |
75 |
AIFM3 |
Apoptosis-inducing factor 3 |
[518] |
1.37[519] |
3.34[520] |
-0.44[521] |
-4.05[522] |
-1.26[523] |
-1.76[524] |
76 |
SLC2A4 |
Solute carrier family 2, facilitated glucose transporter member 4 |
[525] |
1.88[526] |
1.88[527] |
2.62[528] |
-1.87[529] |
-2.49[530] |
1.33[531] |
77 |
CYP26A1 |
Cytochrome P450 26A1 |
[532] |
3.22[533] |
-2.86[534] |
0.81[535] |
0.42[536] |
-5.17[537] |
0.89[538] |
78 |
CDH15 |
Cadherin-15 |
[539] |
2.20[540] |
2.80[541] |
-1.03[542] |
0.43[543] |
-2.99[544] |
-1.14[545] |
79 |
GP1BA |
Platelet glycoprotein Ib alpha chain |
[546] |
-1.88[547] |
-1.85[548] |
1.48[549] |
-0.31[550] |
0.01[551] |
0.96[552] |
80 |
SCARF2 |
Scavenger receptor class F member 2 |
[553] |
5.26[554] |
2.46[555] |
0.74[556] |
1.85[557] |
6.33[558] |
1.55[559] |
81 |
FOXC1 |
Forkhead box protein C1 |
[560] |
3.27[561] |
0.88[562] |
2.44[563] |
3.62[564] |
3.99[565] |
-0.56[566] |
82 |
ALDH1A2 |
Retinal dehydrogenase 2 |
[567] |
-3.87[568] |
-4.04[569] |
-0.52[570] |
-0.53[571] |
7.15[572] |
2.09[573] |
83 |
GP1BB |
Platelet glycoprotein Ib beta chain |
[574] |
[575] |
[576] |
[577] |
[578] |
[579] |
[580] |
84 |
VWF |
von Willebrand factor |
[581] |
1.03[582] |
-1.38[583] |
-3.63[584] |
0.42[585] |
-2.06[586] |
5.60[587] |
85 |
NKX2-5 |
Homeobox protein Nkx-2.5 |
[588] |
2.11[589] |
-0.66[590] |
-6.61[591] |
-3.58[592] |
5.61[593] |
[594] |
86 |
TBX1 |
T-box transcription factor TBX1 |
[595] |
-0.09[596] |
-3.28[597] |
-0.87[598] |
-3.34[599] |
-2.88[600] |
-1.78[601] |
87 |
BCL2 |
Apoptosis regulator Bcl-2 |
[602] |
-2.80[603] |
2.36[604] |
-4.92[605] |
2.04[606] |
1.85[607] |
3.12[608] |
88 |
GP5 |
Platelet glycoprotein V |
[609] |
-3.34[610] |
-1.88[611] |
-5.74[612] |
-5.13[613] |
-1.90[614] |
1.31[615] |
89 |
MAG |
Myelin-associated glycoprotein |
[616] |
2.51[617] |
-0.44[618] |
[619] |
-1.09[620] |
-0.01[621] |
-3.39[622] |
90 |
ACTC1 |
Actin, alpha cardiac muscle 1 |
[623] |
-2.27[624] |
[625] |
-2.69[626] |
7.77[627] |
-1.43[628] |
0.61[629] |
91 |
HAND2 |
Heart- and neural crest derivatives-expressed protein 2 |
[630] |
-3.52[631] |
-3.84[632] |
-4.48[633] |
-0.03[634] |
7.68[635] |
5.06[636] |
92 |
TSKS |
Testis-specific serine kinase substrate |
[637] |
0.50[638] |
0.69[639] |
-1.55[640] |
-2.90[641] |
-2.67[642] |
-1.83[643] |
93 |
FGF8 |
Fibroblast growth factor 8 |
[644] |
-3.27[645] |
-3.17[646] |
1.45[647] |
-1.65[648] |
[649] |
2.58[650] |
94 |
GBX2 |
Homeobox protein GBX-2 |
[651] |
1.75[652] |
-2.72[653] |
0.50[654] |
-0.29[655] |
0.88[656] |
[657] |
95 |
CYP26B1 |
Cytochrome P450 26B1 |
[658] |
4.95[659] |
1.64[660] |
8.98[661] |
6.97[662] |
6.30[663] |
5.42[664] |
96 |
LRRC74B |
Leucine-rich repeat-containing protein 74B |
[665] |
[666] |
[667] |
[668] |
[669] |
[670] |
[671] |
97 |
FAM230E |
|
[672] |
[673] |
[674] |
[675] |
[676] |
[677] |
[678] |
98 |
PITX2 |
Pituitary homeobox 2 |
[679] |
[680] |
[681] |
[682] |
[683] |
[684] |
[685] |
99 |
DGCR11 |
|
[686] |
[687] |
[688] |
[689] |
[690] |
[691] |
[692] |
100 |
PRKN |
E3 ubiquitin-protein ligase parkin |
[693] |
[694] |
[695] |
[696] |
[697] |
[698] |
[699] |
101 |
GP9 |
Platelet glycoprotein IX |
[700] |
[701] |
[702] |
[703] |
[704] |
[705] |
[706] |
102 |
SEPTIN5 |
|
[707] |
[708] |
[709] |
[710] |
[711] |
[712] |
[713] |
103 |
MIR1306 |
|
[714] |
[715] |
[716] |
[717] |
[718] |
[719] |
[720] |
104 |
CCDC188 |
Coiled-coil domain-containing protein 188 |
[721] |
[722] |
[723] |
[724] |
[725] |
[726] |
[727] |
105 |
TMEM191A |
Transmembrane protein 191A |
[728] |
[729] |
[730] |
[731] |
[732] |
[733] |
[734] |
106 |
MIR6816 |
|
[735] |
[736] |
[737] |
[738] |
[739] |
[740] |
[741] |
107 |
PAX3 |
Paired box protein Pax-3 |
[742] |
[743] |
[744] |
[745] |
[746] |
[747] |
[748] |
108 |
UFD1 |
Ubiquitin recognition factor in ER-associated degradation protein 1 |
[749] |
[750] |
[751] |
[752] |
[753] |
[754] |
[755] |
109 |
RTL10 |
Protein Bop |
[756] |
[757] |
[758] |
[759] |
[760] |
[761] |
[762] |
110 |
MIR3618 |
|
[763] |
[764] |
[765] |
[766] |
[767] |
[768] |
[769] |
111 |
LINC01637 |
[770] |
[771] |
[772] |
[773] |
[774] |
[775] |
[776] |
112 |
MIR4761 |
|
[777] |
[778] |
[779] |
[780] |
[781] |
[782] |
[783] |
113 |
SEPTIN8 |
|
[784] |
[785] |
[786] |
[787] |
[788] |
[789] |
[790] |
114 |
H4C1 |
|
[791] |
[792] |
[793] |
[794] |
[795] |
[796] |
[797] |
115 |
FOXC2 |
Forkhead box protein C2 |
[798] |
[799] |
[800] |
[801] |
[802] |
[803] |
[804] |
116 |
TSSK2 |
Testis-specific serine/threonine-protein kinase 2 |
[805] |
[806] |
[807] |
[808] |
[809] |
[810] |
[811] |
117 |
CYP26C1 |
Cytochrome P450 26C1 |
[812] |
[813] |
[814] |
[815] |
[816] |
[817] |
[818] |
118 |
LINC00896 |
[819] |
[820] |
[821] |
[822] |
[823] |
[824] |
[825] |
119 |
FGF10 |
Fibroblast growth factor 10 |
[826] |
[827] |
[828] |
[829] |
[830] |
[831] |
[832] |
120 |
GSC2 |
Homeobox protein goosecoid-2 |
[833] |
[834] |
[835] |
[836] |
[837] |
[838] |
[839] |
121 |
TANGO2 |
Transport and Golgi organization protein 2 homolog |
[840] |
[841] |
[842] |
[843] |
[844] |
[845] |
[846] |
122 |
ESS2 |
|
[847] |
[848] |
[849] |
[850] |
[851] |
[852] |
[853] |
123 |
MIR3198-2 |
[854] |
[855] |
[856] |
[857] |
[858] |
[859] |
[860] |
124 |
DGCR5 |
|
[861] |
[862] |
[863] |
[864] |
[865] |
[866] |
[867] |
125 |
P2RX6 |
P2X purinoceptor 6 |
[868] |
[869] |
[870] |
[871] |
[872] |
[873] |
[874] |
126 |
SLC7A4 |
Cationic amino acid transporter 4 |
[875] |
[876] |
[877] |
[878] |
[879] |
[880] |
[881] |
127 |
DRD2 |
D(2) dopamine receptor |
[882] |
[883] |
[884] |
[885] |
[886] |
[887] |
[888] |
128 |
ENSG00000161103 |
[889] |
[890] |
[891] |
[892] |
[893] |
[894] |
[895] |
129 |
SEPTIN11 |
|
[896] |
[897] |
[898] |
[899] |
[900] |
[901] |
[902] |
130 |
EMC10 |
ER membrane protein complex subunit 10 |
[903] |
[904] |
[905] |
[906] |
[907] |
[908] |
[909] |
131 |
TUBA3FP |
|
[910] |
[911] |
[912] |
[913] |
[914] |
[915] |
[916] |
|
|
|
|
|
|
|
|
|
|