OSBP2

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sperm motility (GO:0030317)9.99421176
2acrosome reaction (GO:0007340)9.28356416
3tetrapyrrole biosynthetic process (GO:0033014)9.12194954
4erythrocyte maturation (GO:0043249)8.97415138
5cell wall macromolecule catabolic process (GO:0016998)8.72033199
6cell wall macromolecule metabolic process (GO:0044036)8.72033199
7erythrocyte development (GO:0048821)8.68311955
8porphyrin-containing compound metabolic process (GO:0006778)8.61648998
9fusion of sperm to egg plasma membrane (GO:0007342)8.21304074
10heme biosynthetic process (GO:0006783)8.04921536
11acrosome assembly (GO:0001675)7.80007882
12sperm-egg recognition (GO:0035036)7.48907979
13motile cilium assembly (GO:0044458)6.85365141
14binding of sperm to zona pellucida (GO:0007339)6.78058994
15spermatid development (GO:0007286)6.74246706
16multicellular organism reproduction (GO:0032504)6.72263901
17cell-cell recognition (GO:0009988)6.69565729
18epithelial cilium movement (GO:0003351)6.66986909
19plasma membrane fusion (GO:0045026)6.60633758
20heme metabolic process (GO:0042168)6.58402541
21regulation of cilium movement (GO:0003352)6.46170999
22myeloid cell development (GO:0061515)6.43455996
23axonemal dynein complex assembly (GO:0070286)6.39718136
24glycine transport (GO:0015816)6.27326759
25response to methylmercury (GO:0051597)6.21082162
26reproduction (GO:0000003)5.90741729
27negative regulation of inclusion body assembly (GO:0090084)5.90233265
28cilium or flagellum-dependent cell motility (GO:0001539)5.60089968
29cilium movement (GO:0003341)5.53846431
30calcium ion-dependent exocytosis (GO:0017156)5.51389291
31regulation of response to osmotic stress (GO:0047484)5.35364911
32sperm capacitation (GO:0048240)5.20993849
33negative regulation of erythrocyte differentiation (GO:0045647)5.14208663
34tetrapyrrole metabolic process (GO:0033013)5.06245149
35epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.96926469
36organic cation transport (GO:0015695)4.86451762
37spermatogenesis (GO:0007283)4.81331401
38male gamete generation (GO:0048232)4.79216690
39response to insecticide (GO:0017085)4.69382508
40single fertilization (GO:0007338)4.68229385
41regulation of rhodopsin mediated signaling pathway (GO:0022400)4.67802469
42rhodopsin mediated signaling pathway (GO:0016056)4.63035938
43regulation of inclusion body assembly (GO:0090083)4.62909185
44synaptonemal complex organization (GO:0070193)4.58197291
45iron ion import (GO:0097286)4.51735703
46megakaryocyte development (GO:0035855)4.47028697
47piRNA metabolic process (GO:0034587)4.46797480
48protein targeting to plasma membrane (GO:0072661)4.45997587
49synaptonemal complex assembly (GO:0007130)4.45503079
50male meiosis (GO:0007140)4.42101033
51gamete generation (GO:0007276)4.40955027
52detection of light stimulus involved in sensory perception (GO:0050962)4.39834935
53detection of light stimulus involved in visual perception (GO:0050908)4.39834935
54actin filament capping (GO:0051693)4.12524861
55regulation of platelet aggregation (GO:0090330)4.11207475
56granulocyte differentiation (GO:0030851)4.09256806
57fertilization (GO:0009566)4.08380681
58microtubule severing (GO:0051013)4.05912073
59response to lead ion (GO:0010288)4.05620886
60microtubule depolymerization (GO:0007019)4.05169935
61ventricular system development (GO:0021591)4.01981981
62regulation of microtubule-based movement (GO:0060632)3.98151962
63regulation of short-term neuronal synaptic plasticity (GO:0048172)3.97397431
64erythrocyte differentiation (GO:0030218)3.93349258
65positive regulation of fibroblast migration (GO:0010763)3.92669083
66positive regulation of granulocyte differentiation (GO:0030854)3.92601572
67platelet formation (GO:0030220)3.91200736
68cell recognition (GO:0008037)3.89859372
69positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.88697749
70retinal cone cell development (GO:0046549)3.84395522
71regulation of erythrocyte differentiation (GO:0045646)3.78187990
72positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.76898439
73definitive hemopoiesis (GO:0060216)3.76476092
74negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.75001475
753-UTR-mediated mRNA stabilization (GO:0070935)3.74557819
76germ cell development (GO:0007281)3.73909084
77cellular process involved in reproduction in multicellular organism (GO:0022412)3.73312011
78embryonic hemopoiesis (GO:0035162)3.72682075
79hepatocyte apoptotic process (GO:0097284)3.66290068
80modulation by virus of host process (GO:0019054)3.63909196
81cytoskeletal anchoring at plasma membrane (GO:0007016)3.61252205
82one-carbon compound transport (GO:0019755)3.58672644
83protein localization to synapse (GO:0035418)3.56888283
84mitochondrion degradation (GO:0000422)3.52857696
85left/right pattern formation (GO:0060972)3.52651868
86synaptic vesicle maturation (GO:0016188)3.51399164
87negative regulation of execution phase of apoptosis (GO:1900118)3.48905949
88response to arsenic-containing substance (GO:0046685)3.47394320
89multicellular organismal reproductive process (GO:0048609)3.45883629
90spermatid nucleus differentiation (GO:0007289)3.41316546
91protein localization to cilium (GO:0061512)3.40770591
92photoreceptor cell maintenance (GO:0045494)3.40437184
93membrane depolarization during action potential (GO:0086010)3.39478274
94phosphatidylethanolamine biosynthetic process (GO:0006646)3.35587472
95cellular response to virus (GO:0098586)3.35480650
96positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr3.33297078
97photoreceptor cell development (GO:0042461)3.31244411
98chromosome condensation (GO:0030261)3.31176226
99calcium ion import (GO:0070509)3.30210312
100regulation of RNA export from nucleus (GO:0046831)3.29825600
101DNA packaging (GO:0006323)3.27099233
102negative regulation of actin filament depolymerization (GO:0030835)3.25257461
103regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.22477572
104negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.21852419
105synaptic vesicle docking involved in exocytosis (GO:0016081)3.21282759
106bicarbonate transport (GO:0015701)3.19195338
107protein polyglutamylation (GO:0018095)3.13546742
108retinal rod cell development (GO:0046548)3.13533509
109phosphatidylethanolamine metabolic process (GO:0046337)3.12656426
110locomotory exploration behavior (GO:0035641)3.10936650
111positive regulation of erythrocyte differentiation (GO:0045648)3.10356585
112vocalization behavior (GO:0071625)3.10162639
113eye photoreceptor cell development (GO:0042462)3.09810754
114seminiferous tubule development (GO:0072520)3.08980030
115calcium-mediated signaling using intracellular calcium source (GO:0035584)3.05805329
116sexual reproduction (GO:0019953)3.05414124
117neutrophil activation involved in immune response (GO:0002283)3.01145679
118regulation of chromatin binding (GO:0035561)2.99581018
119modulation by symbiont of host cellular process (GO:0044068)2.99497620
120synaptic vesicle exocytosis (GO:0016079)2.98766599
121male meiosis I (GO:0007141)2.97124993
122glutamate secretion (GO:0014047)2.95025874
123regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act2.94812288
124cellular response to arsenic-containing substance (GO:0071243)2.93861196
125regulation of synaptic vesicle exocytosis (GO:2000300)2.92937399
126DNA methylation involved in gamete generation (GO:0043046)2.92615422
127glycerol ether metabolic process (GO:0006662)2.92396845
128regulation of nucleobase-containing compound transport (GO:0032239)2.91278563
129hydrogen peroxide catabolic process (GO:0042744)2.84856187
130pigment biosynthetic process (GO:0046148)2.84456017
131multicellular organismal development (GO:0007275)2.84042436
132cellular potassium ion homeostasis (GO:0030007)2.82451811
133ionotropic glutamate receptor signaling pathway (GO:0035235)2.82104420
134detection of light stimulus (GO:0009583)2.79281876
135regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.78458434
136protein K11-linked deubiquitination (GO:0035871)2.78030547
137axoneme assembly (GO:0035082)2.77946541
138very-low-density lipoprotein particle assembly (GO:0034379)2.76631759
139visual perception (GO:0007601)2.75487025
140glycolytic process (GO:0006096)2.73655185
141detection of visible light (GO:0009584)2.72936437
142sensory perception of light stimulus (GO:0050953)2.72581279
143ether metabolic process (GO:0018904)2.71333968
144innate immune response in mucosa (GO:0002227)2.70944177
145CDP-diacylglycerol biosynthetic process (GO:0016024)2.70644424
146cerebellar Purkinje cell differentiation (GO:0021702)2.69836317
147negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.69819294
148regulation of glutamate receptor signaling pathway (GO:1900449)2.69472420
149phototransduction (GO:0007602)2.69096358
150negative regulation of focal adhesion assembly (GO:0051895)2.68356757
151negative regulation of cell junction assembly (GO:1901889)2.68356757
152negative regulation of adherens junction organization (GO:1903392)2.68356757
153chromosome organization involved in meiosis (GO:0070192)2.67493935
154positive regulation of Rap GTPase activity (GO:0032854)2.67353110
155response to dexamethasone (GO:0071548)2.65920721
156sodium ion export (GO:0071436)2.65502510
157synaptic transmission, glutamatergic (GO:0035249)2.65370628
158negative regulation of organelle assembly (GO:1902116)2.64798564
159cellular response to dexamethasone stimulus (GO:0071549)2.64100183
160regulation of synaptic vesicle transport (GO:1902803)2.63613511
161negative regulation of dendrite morphogenesis (GO:0050774)2.62716001
162glutamate receptor signaling pathway (GO:0007215)2.61954193
163negative regulation of cAMP-mediated signaling (GO:0043951)2.61617522
164iron ion homeostasis (GO:0055072)2.60766937
165positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.60595524
166neurotransmitter secretion (GO:0007269)2.60214641
167intracellular estrogen receptor signaling pathway (GO:0030520)2.60102362
168regulation of integrin-mediated signaling pathway (GO:2001044)2.58933543
169N-terminal protein amino acid acetylation (GO:0006474)2.54671196
170regulation of granulocyte differentiation (GO:0030852)2.54533692
171phosphatidylcholine biosynthetic process (GO:0006656)2.52204223
172antibacterial humoral response (GO:0019731)2.51410298
173defense response to fungus (GO:0050832)2.50500514
174cerebellar granule cell differentiation (GO:0021707)2.49840077
175regulation of cAMP-dependent protein kinase activity (GO:2000479)2.49055155
176DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.48004915
177pigment metabolic process (GO:0042440)2.45677244
178negative regulation of peptidyl-serine phosphorylation (GO:0033137)2.39696376
179granulocyte activation (GO:0036230)2.39075854
180neutral amino acid transport (GO:0015804)2.39065340
181hemopoiesis (GO:0030097)2.37927383
182antimicrobial humoral response (GO:0019730)2.35506528
183neutrophil activation (GO:0042119)2.33486156
184negative regulation of establishment of protein localization to plasma membrane (GO:0090005)2.32139669
185regulation of receptor recycling (GO:0001919)2.30366727
186positive regulation of gluconeogenesis (GO:0045722)2.28877416
187positive regulation of megakaryocyte differentiation (GO:0045654)2.27577769
188mesodermal cell differentiation (GO:0048333)2.26680214
189mucosal immune response (GO:0002385)2.26008844
190negative regulation of actin filament polymerization (GO:0030837)2.25871011
191negative regulation of protein localization to plasma membrane (GO:1903077)2.25110238
192nerve growth factor signaling pathway (GO:0038180)2.25027017
193cellular response to thyroid hormone stimulus (GO:0097067)2.21883818
194protoporphyrinogen IX metabolic process (GO:0046501)14.6217133
195oxygen transport (GO:0015671)12.4731707
196protoporphyrinogen IX biosynthetic process (GO:0006782)11.6406955
197gas transport (GO:0015669)11.0884178
198hemoglobin metabolic process (GO:0020027)10.4366632
199porphyrin-containing compound biosynthetic process (GO:0006779)10.3269660

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human8.80343710
2GATA1_19941826_ChIP-Seq_K562_Human7.13883735
3EZH2_22144423_ChIP-Seq_EOC_Human5.53460535
4GATA2_19941826_ChIP-Seq_K562_Human4.50157229
5SCL_19346495_ChIP-Seq_HPC-7_Human4.44356148
6GATA1_19941827_ChIP-Seq_MEL_Mouse3.93979536
7MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.90435003
8TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse3.82949739
9KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse3.43246383
10E2F7_22180533_ChIP-Seq_HELA_Human3.25230251
11SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human3.09833055
12EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.94949872
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.73112897
14GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.72539722
15TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.69448619
16GATA1_22383799_ChIP-Seq_G1ME_Mouse2.52458823
17GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.37573145
18* REST_21632747_ChIP-Seq_MESCs_Mouse2.34268049
19NCOR1_26117541_ChIP-Seq_K562_Human2.33644405
20MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.31643182
21TCF7_22412390_ChIP-Seq_EML_Mouse2.25411377
22PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.24186717
23VDR_22108803_ChIP-Seq_LS180_Human2.19582554
24FOXM1_23109430_ChIP-Seq_U2OS_Human2.17786240
25KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.05388046
26KDM2B_26808549_Chip-Seq_DND41_Human2.05340439
27GBX2_23144817_ChIP-Seq_PC3_Human2.03935824
28SUZ12_27294783_Chip-Seq_ESCs_Mouse1.97621860
29MYC_22102868_ChIP-Seq_BL_Human1.96956517
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.88696161
31ZNF263_19887448_ChIP-Seq_K562_Human1.87813450
32KDM2B_26808549_Chip-Seq_K562_Human1.86869247
33* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.82613917
34BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.82208142
35EZH2_27294783_Chip-Seq_ESCs_Mouse1.81801989
36RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.81546259
37KDM2B_26808549_Chip-Seq_SUP-B15_Human1.81047152
38DROSHA_22980978_ChIP-Seq_HELA_Human1.79250577
39CTCF_27219007_Chip-Seq_ERYTHROID_Human1.77510083
40VDR_21846776_ChIP-Seq_THP-1_Human1.75086864
41ZNF274_21170338_ChIP-Seq_K562_Hela1.74265085
42GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.73334758
43MYB_21317192_ChIP-Seq_ERMYB_Mouse1.72826122
44GATA1_26923725_Chip-Seq_HPCs_Mouse1.70702843
45SPI1_23127762_ChIP-Seq_K562_Human1.69894845
46KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.67108711
47CTBP2_25329375_ChIP-Seq_LNCAP_Human1.66017579
48RUNX1_22412390_ChIP-Seq_EML_Mouse1.60786462
49MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.60632753
50MTF2_20144788_ChIP-Seq_MESCs_Mouse1.59748843
51* REST_18959480_ChIP-ChIP_MESCs_Mouse1.56057812
52* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.53726347
53LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.53560360
54* MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.53101405
55ELF1_20517297_ChIP-Seq_JURKAT_Human1.50114763
56LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.50111088
57* RARB_27405468_Chip-Seq_BRAIN_Mouse1.49384315
58MAF_26560356_Chip-Seq_TH1_Human1.47960771
59CBX2_27304074_Chip-Seq_ESCs_Mouse1.46946957
60STAT6_21828071_ChIP-Seq_BEAS2B_Human1.46109543
61E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.45974707
62GATA2_22383799_ChIP-Seq_G1ME_Mouse1.44989724
63* RNF2_27304074_Chip-Seq_ESCs_Mouse1.43978625
64MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.43160458
65UTX_26944678_Chip-Seq_JUKART_Human1.42881403
66EZH2_27304074_Chip-Seq_ESCs_Mouse1.42344106
67GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.42157741
68ELK3_25401928_ChIP-Seq_HUVEC_Human1.41612327
69ELK4_26923725_Chip-Seq_MESODERM_Mouse1.41041243
70LXR_22292898_ChIP-Seq_THP-1_Human1.39988669
71IKZF1_21737484_ChIP-ChIP_HCT116_Human1.39875583
72P68_20966046_ChIP-Seq_HELA_Human1.39368606
73RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.39233576
74EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.38562610
75EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.37900338
76BRD4_27068464_Chip-Seq_AML-cells_Mouse1.36108408
77THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.35345372
78BCOR_27268052_Chip-Seq_Bcells_Human1.34957849
79SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.34409299
80KDM2B_26808549_Chip-Seq_JURKAT_Human1.33177389
81TAF15_26573619_Chip-Seq_HEK293_Human1.32835978
82SMAD4_21799915_ChIP-Seq_A2780_Human1.32562286
83KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.30885210
84VDR_24763502_ChIP-Seq_THP-1_Human1.30174229
85CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.29952250
86CTBP1_25329375_ChIP-Seq_LNCAP_Human1.27944528
87EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.27431616
88SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.27152269
89* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.26699404
90KDM2B_26808549_Chip-Seq_REH_Human1.26138479
91NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.26046984
92* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.25801109
93CBP_20019798_ChIP-Seq_JUKART_Human1.24190424
94IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.24190424
95WDR5_24793694_ChIP-Seq_LNCAP_Human1.24001512
96FLI1_27457419_Chip-Seq_LIVER_Mouse1.23055485
97EZH2_18974828_ChIP-Seq_MESCs_Mouse1.22760332
98RNF2_18974828_ChIP-Seq_MESCs_Mouse1.22760332
99* JARID2_20064375_ChIP-Seq_MESCs_Mouse1.22077405
100TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21827520
101JARID2_20075857_ChIP-Seq_MESCs_Mouse1.20755095
102BCL6_27268052_Chip-Seq_Bcells_Human1.18771412
103SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.18397505
104ZFP57_27257070_Chip-Seq_ESCs_Mouse1.18035067
105POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.17321799
106TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17321799
107TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.17234601
108CTCF_21964334_ChIP-Seq_BJAB-B_Human1.16973925
109GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.15578092
110SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.14666116
111SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.13799115
112ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.13282806
113GATA2_21666600_ChIP-Seq_HMVEC_Human1.12802113
114PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.12680875
115NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.12307473
116FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.12090939
117RNF2_27304074_Chip-Seq_NSC_Mouse1.10361993
118CREB1_26743006_Chip-Seq_LNCaP_Human1.10115786
119CTCF_27219007_Chip-Seq_Bcells_Human1.09607258
120* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.09525969
121EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.09405625
122TAL1_26923725_Chip-Seq_HPCs_Mouse1.08814224
123NANOG_18555785_Chip-Seq_ESCs_Mouse1.08655054
124TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08283707
125SMC4_20622854_ChIP-Seq_HELA_Human1.07679497
126SMAD3_21741376_ChIP-Seq_ESCs_Human1.07403677
127* FLI1_21867929_ChIP-Seq_TH2_Mouse1.07390811
128PCGF2_27294783_Chip-Seq_ESCs_Mouse1.07387416
129GATA1_19941827_ChIP-Seq_MEL86_Mouse1.07273778
130FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.06860976
131TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.06590939
132STAT1_17558387_ChIP-Seq_HELA_Human1.04451856
133SMAD3_21741376_ChIP-Seq_EPCs_Human1.04210675
134GF1_26923725_Chip-Seq_HPCs_Mouse1.03032612
135FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02391374
136* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.01838195
137MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.01632980
138CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.01228654
139TFEB_21752829_ChIP-Seq_HELA_Human1.01174542
140MAF_26560356_Chip-Seq_TH2_Human1.00189382
141MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.99774826
142DNAJC2_21179169_ChIP-ChIP_NT2_Human0.99394507
143SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.99121797
144* TCF4_23295773_ChIP-Seq_U87_Human0.98565244
145SA1_27219007_Chip-Seq_ERYTHROID_Human0.98105254
146TBL1_22424771_ChIP-Seq_293T_Human0.97003218
147RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96372919
148SRY_22984422_ChIP-ChIP_TESTIS_Rat0.94800183
149SMAD4_21741376_ChIP-Seq_EPCs_Human0.94670337
150NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.94376180
151* RING1B_27294783_Chip-Seq_ESCs_Mouse0.94286076
152NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.93884841
153CTCF_21964334_Chip-Seq_Bcells_Human0.93786930
154* AR_25329375_ChIP-Seq_VCAP_Human0.93463896
155THAP11_20581084_ChIP-Seq_MESCs_Mouse0.93392174
156* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.93330589
157FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92112580
158UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.91956882
159MYC_27129775_Chip-Seq_CORNEA_Mouse0.91884024
160PHF8_20622854_ChIP-Seq_HELA_Human0.91583363
161CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.91130900
162SUZ12_27294783_Chip-Seq_NPCs_Mouse0.90937523
163PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.90829545
164NFE2_27457419_Chip-Seq_LIVER_Mouse0.90628926
165RACK7_27058665_Chip-Seq_MCF-7_Human0.90499449
166OCT4_19829295_ChIP-Seq_ESCs_Human0.90269994
167P300_19829295_ChIP-Seq_ESCs_Human0.90062069
168EED_16625203_ChIP-ChIP_MESCs_Mouse0.89976238
169P53_22387025_ChIP-Seq_ESCs_Mouse0.89031422
170SPI1_20517297_ChIP-Seq_HL60_Human0.88958073
171SOX2_22085726_ChIP-Seq_NPCs_Mouse0.88487541
172STAT3_23295773_ChIP-Seq_U87_Human0.88333825
173ETS1_22383799_ChIP-Seq_G1ME_Mouse0.88304401
174FOXO3_23340844_ChIP-Seq_DLD1_Human0.88219443
175VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.88138840
176CMYC_18555785_Chip-Seq_ESCs_Mouse0.88085389
177* ATF3_27146783_Chip-Seq_COLON_Human0.87946117
178GATA3_21867929_ChIP-Seq_CD8_Mouse0.87703151
179OCT1_27270436_Chip-Seq_PROSTATE_Human0.87479526
180SOX9_26525672_Chip-Seq_HEART_Mouse0.86955239
181EP300_21415370_ChIP-Seq_HL-1_Mouse0.86645417
182* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.86169105
183* LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.86065628
184SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.84403059
185MYB_26560356_Chip-Seq_TH1_Human0.83917887
186YY1_22570637_ChIP-Seq_MALME-3M_Human0.82624237
187CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.81051266
188TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.77759860
189P300_27058665_Chip-Seq_ZR-75-30cells_Human0.76770338
190PPARA_22158963_ChIP-Seq_LIVER_Mouse0.72207860
191E2F1_20622854_ChIP-Seq_HELA_Human0.72197181
192* TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.72110374
193CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.71513974
194ERG_21242973_ChIP-ChIP_JURKAT_Human0.71370685
195STAT4_19710469_ChIP-ChIP_TH1__Mouse0.68912207
196Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.65632136

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005410_abnormal_fertilization9.84229862
2MP0003656_abnormal_erythrocyte_physiolo9.61968541
3MP0005083_abnormal_biliary_tract6.20275616
4MP0005551_abnormal_eye_electrophysiolog4.23666678
5MP0004859_abnormal_synaptic_plasticity3.76544223
6MP0003011_delayed_dark_adaptation3.75457342
7MP0003698_abnormal_male_reproductive3.68818265
8MP0005397_hematopoietic_system_phenotyp3.08819160
9MP0001545_abnormal_hematopoietic_system3.08819160
10MP0001929_abnormal_gametogenesis3.02761852
11MP0005253_abnormal_eye_physiology2.89482356
12MP0003880_abnormal_central_pattern2.78039436
13MP0005464_abnormal_platelet_physiology2.66777676
14MP0006072_abnormal_retinal_apoptosis2.66242070
15MP0003635_abnormal_synaptic_transmissio2.61540507
16MP0009046_muscle_twitch2.59769364
17MP0005423_abnormal_somatic_nervous2.52550951
18MP0004270_analgesia2.49114726
19MP0008260_abnormal_autophagy2.34261485
20MP0003303_peritoneal_inflammation2.19240443
21MP0001984_abnormal_olfaction2.13611134
22MP0009745_abnormal_behavioral_response2.12205461
23MP0002063_abnormal_learning/memory/cond2.10375321
24MP0008877_abnormal_DNA_methylation2.05939199
25MP0002822_catalepsy2.01942718
26MP0004147_increased_porphyrin_level10.4210750
27MP0002064_seizures1.99451156
28MP0009278_abnormal_bone_marrow1.97395135
29MP0001968_abnormal_touch/_nociception1.97154572
30MP0002161_abnormal_fertility/fecundity1.96948333
31MP0001486_abnormal_startle_reflex1.92170230
32MP0002272_abnormal_nervous_system1.91174645
33MP0002572_abnormal_emotion/affect_behav1.83481998
34MP0008995_early_reproductive_senescence1.78917109
35MP0005636_abnormal_mineral_homeostasis1.73316608
36MP0004233_abnormal_muscle_weight1.72435178
37MP0002653_abnormal_ependyma_morphology1.71217226
38MP0003646_muscle_fatigue1.66451193
39MP0002090_abnormal_vision1.62309814
40MP0005670_abnormal_white_adipose1.61950340
41MP0002734_abnormal_mechanical_nocicepti1.61734433
42MP0003172_abnormal_lysosome_physiology1.59589550
43MP0005195_abnormal_posterior_eye1.59454587
44MP0002210_abnormal_sex_determination1.59268067
45MP0002229_neurodegeneration1.58678763
46MP0002736_abnormal_nociception_after1.53076050
47MP0001324_abnormal_eye_pigmentation1.43126438
48MP0008569_lethality_at_weaning1.41786577
49MP0003950_abnormal_plasma_membrane1.39080146
50MP0005451_abnormal_body_composition1.36667887
51MP0001145_abnormal_male_reproductive1.35456609
52MP0002882_abnormal_neuron_morphology1.31613091
53MP0004130_abnormal_muscle_cell1.31449420
54MP0002067_abnormal_sensory_capabilities1.31119447
55MP0001502_abnormal_circadian_rhythm1.30344868
56MP0003329_amyloid_beta_deposits1.29300156
57MP0005391_vision/eye_phenotype1.27983684
58MP0005076_abnormal_cell_differentiation1.26140233
59MP0000015_abnormal_ear_pigmentation1.25404583
60MP0003191_abnormal_cellular_cholesterol1.25181291
61MP0004808_abnormal_hematopoietic_stem1.22349899
62MP0001440_abnormal_grooming_behavior1.22101291
63MP0002752_abnormal_somatic_nervous1.19841370
64MP0000653_abnormal_sex_gland1.18619113
65MP0002398_abnormal_bone_marrow1.18323424
66MP0004811_abnormal_neuron_physiology1.17495033
67MP0003879_abnormal_hair_cell1.15725818
68MP0008775_abnormal_heart_ventricle1.13919490
69MP0001501_abnormal_sleep_pattern1.10679965
70MP0002735_abnormal_chemical_nociception1.08780614
71MP0004885_abnormal_endolymph1.07993034
72MP0002909_abnormal_adrenal_gland1.07837824
73MP0002557_abnormal_social/conspecific_i1.07582559
74MP0005377_hearing/vestibular/ear_phenot1.07408058
75MP0003878_abnormal_ear_physiology1.07408058
76MP0002638_abnormal_pupillary_reflex1.07194955
77MP0002184_abnormal_innervation1.04954877
78MP0003045_fibrosis1.03462318
79MP0003787_abnormal_imprinting1.03275124
80MP0009931_abnormal_skin_appearance1.03244631
81MP0002722_abnormal_immune_system1.01123343
82MP0005646_abnormal_pituitary_gland1.00690347
83MP0003633_abnormal_nervous_system0.99436961
84MP0000751_myopathy0.98998742
85MP0003186_abnormal_redox_activity0.97210273
86MP0001970_abnormal_pain_threshold0.96039994
87MP0004145_abnormal_muscle_electrophysio0.95811700
88MP0008874_decreased_physiological_sensi0.95316285
89MP0004742_abnormal_vestibular_system0.94723228
90MP0004924_abnormal_behavior0.93363789
91MP0005386_behavior/neurological_phenoty0.93363789
92MP0002095_abnormal_skin_pigmentation0.93319677
93MP0000955_abnormal_spinal_cord0.91594545
94MP0002066_abnormal_motor_capabilities/c0.91236142
95MP0005623_abnormal_meninges_morphology0.89425174
96MP0000689_abnormal_spleen_morphology0.88518758
97MP0008004_abnormal_stomach_pH0.87920432
98MP0000778_abnormal_nervous_system0.87384568
99MP0003111_abnormal_nucleus_morphology0.87257678
100MP0002733_abnormal_thermal_nociception0.86035773
101MP0003566_abnormal_cell_adhesion0.85557705
102MP0003453_abnormal_keratinocyte_physiol0.85088117
103MP0002234_abnormal_pharynx_morphology0.84987555
104MP0001765_abnormal_ion_homeostasis0.84690690
105MP0004947_skin_inflammation0.84257979
106MP0000685_abnormal_immune_system0.82948012
107MP0002152_abnormal_brain_morphology0.82811010
108MP0003631_nervous_system_phenotype0.82226413
109MP0002160_abnormal_reproductive_system0.80513716
110MP0001529_abnormal_vocalization0.78729473
111MP0005501_abnormal_skin_physiology0.78417748
112MP0003634_abnormal_glial_cell0.77147817
113MP0006035_abnormal_mitochondrial_morpho0.77108628
114MP0000703_abnormal_thymus_morphology0.76950710
115MP0004036_abnormal_muscle_relaxation0.76915309
116MP0002429_abnormal_blood_cell0.76626899
117MP0004043_abnormal_pH_regulation0.75002924
118MP0005310_abnormal_salivary_gland0.74467705
119MP0004185_abnormal_adipocyte_glucose0.73613862
120MP0002332_abnormal_exercise_endurance0.72840617
121MP0002396_abnormal_hematopoietic_system0.72356559
122MP0000569_abnormal_digit_pigmentation0.71937508
123MP0004215_abnormal_myocardial_fiber0.71925142
124MP0004085_abnormal_heartbeat0.71826456
125MP0001986_abnormal_taste_sensitivity0.70975685
126MP0001963_abnormal_hearing_physiology0.69095549
127MP0009780_abnormal_chondrocyte_physiolo0.68841593
128MP0004142_abnormal_muscle_tone0.67519218
129MP0009764_decreased_sensitivity_to0.66321265
130MP0009765_abnormal_xenobiotic_induced0.64833205
131MP0000465_gastrointestinal_hemorrhage0.63835931
132MP0005075_abnormal_melanosome_morpholog0.63422386
133MP0001905_abnormal_dopamine_level0.62766022
134MP0002132_abnormal_respiratory_system0.62414213
135MP0006036_abnormal_mitochondrial_physio0.60524730
136MP0008961_abnormal_basal_metabolism0.58064285
137MP0001764_abnormal_homeostasis0.57422799
138MP0008770_decreased_survivor_rate0.56265974
139MP0000920_abnormal_myelination0.55762964
140MP0003436_decreased_susceptibility_to0.55402318
141MP0006276_abnormal_autonomic_nervous0.54397606
142MP0005025_abnormal_response_to0.54140867
143MP0000749_muscle_degeneration0.53886798
144MP0005174_abnormal_tail_pigmentation0.53772446
145MP0009333_abnormal_splenocyte_physiolog0.53122968
146MP0003786_premature_aging0.53047896
147MP0000631_abnormal_neuroendocrine_gland0.53013278
148MP0005621_abnormal_cell_physiology0.52623881
149MP0002069_abnormal_eating/drinking_beha0.52425110
150MP0003632_abnormal_nervous_system0.52419781
151MP0005645_abnormal_hypothalamus_physiol0.51462412
152MP0004858_abnormal_nervous_system0.51144750
153MP0005499_abnormal_olfactory_system0.50293987
154MP0005394_taste/olfaction_phenotype0.50293987
155MP0002837_dystrophic_cardiac_calcinosis0.49830341
156MP0000313_abnormal_cell_death0.49805062
157MP0010386_abnormal_urinary_bladder0.49567001
158MP0001664_abnormal_digestion0.48536679
159MP0008872_abnormal_physiological_respon0.48361016
160MP0001784_abnormal_fluid_regulation0.47923511
161MP0002405_respiratory_system_inflammati0.46987771
162MP0010307_abnormal_tumor_latency0.46340926
163MP0001851_eye_inflammation0.46138796
164MP0000609_abnormal_liver_physiology0.45552274
165MP0003763_abnormal_thymus_physiology0.44397925
166MP0005384_cellular_phenotype0.42026520
167MP0000716_abnormal_immune_system0.41093816
168MP0003828_pulmonary_edema0.40506094
169MP0002083_premature_death0.40401129
170MP0002419_abnormal_innate_immunity0.38762465

Predicted human phenotypes

RankGene SetZ-score
1Absent/shortened dynein arms (HP:0200106)9.25006936
2Dynein arm defect of respiratory motile cilia (HP:0012255)9.25006936
3Respiratory insufficiency due to defective ciliary clearance (HP:0200073)8.54050011
4Reticulocytosis (HP:0001923)8.07722467
5Congenital stationary night blindness (HP:0007642)7.07493126
6Microcytic anemia (HP:0001935)6.68073572
7Abnormal hemoglobin (HP:0011902)6.67457881
8Abnormal respiratory motile cilium physiology (HP:0012261)6.34203544
9Cholelithiasis (HP:0001081)6.28283224
10Hypochromic anemia (HP:0001931)6.18570790
11Abnormal respiratory epithelium morphology (HP:0012253)6.16989524
12Abnormal respiratory motile cilium morphology (HP:0005938)6.16989524
13Acanthocytosis (HP:0001927)5.74620351
14Abnormal gallbladder morphology (HP:0012437)5.65256122
15Paralysis (HP:0003470)5.46726062
16Bony spicule pigmentary retinopathy (HP:0007737)5.38287817
17Polycythemia (HP:0001901)5.19260221
18Abnormality of reticulocytes (HP:0004312)5.05947336
19Abnormal ciliary motility (HP:0012262)5.00433315
20Rhinitis (HP:0012384)4.93771136
21Dyschromatopsia (HP:0007641)4.89562171
22Infertility (HP:0000789)4.84925267
23Central scotoma (HP:0000603)4.62735698
24Prolonged bleeding time (HP:0003010)4.55874144
25Chronic bronchitis (HP:0004469)4.55291066
26Decreased central vision (HP:0007663)4.42119400
27Abnormal rod and cone electroretinograms (HP:0008323)4.31710012
28Absent rod-and cone-mediated responses on ERG (HP:0007688)4.14447432
29Abnormality of macular pigmentation (HP:0008002)4.12043140
30Abnormality of the gallbladder (HP:0005264)4.09055872
31Hyperbilirubinemia (HP:0002904)3.93190660
32Attenuation of retinal blood vessels (HP:0007843)3.89420041
33Choroideremia (HP:0001139)3.83366996
34Diaphragmatic weakness (HP:0009113)3.80122907
35Ileus (HP:0002595)3.77840158
36Scotoma (HP:0000575)3.67832468
37Nasal polyposis (HP:0100582)3.34783548
38Toxemia of pregnancy (HP:0100603)3.33994835
39Nephronophthisis (HP:0000090)3.25386851
40Male infertility (HP:0003251)3.23101491
41Pigmentary retinal degeneration (HP:0001146)3.21052421
42Pendular nystagmus (HP:0012043)3.20937906
43Parkinsonism with favorable response to dopaminergic medication (HP:0002548)3.19447779
44Focal motor seizures (HP:0011153)3.16551207
45Insomnia (HP:0100785)3.12465286
46Decreased electroretinogram (ERG) amplitude (HP:0000654)3.11930208
47Abolished electroretinogram (ERG) (HP:0000550)3.03710232
48Chorioretinal atrophy (HP:0000533)3.02559616
49Myokymia (HP:0002411)2.97846608
50Abnormal platelet volume (HP:0011876)2.94300254
51Increased mean platelet volume (HP:0011877)2.92043370
52Type II diabetes mellitus (HP:0005978)2.90404391
53Abnormality of iron homeostasis (HP:0011031)2.89724094
54Progressive cerebellar ataxia (HP:0002073)2.86736441
55Epistaxis (HP:0000421)2.85741656
56Epileptic encephalopathy (HP:0200134)2.84636166
57Osteomalacia (HP:0002749)2.83769377
58Abnormality of the fingertips (HP:0001211)2.80963306
59Petechiae (HP:0000967)2.80141891
60Medial flaring of the eyebrow (HP:0010747)2.79285832
61Photophobia (HP:0000613)2.71692009
62Macular degeneration (HP:0000608)2.66293945
63Abnormality of transition element cation homeostasis (HP:0011030)2.63902635
64Abnormality of the nasal mucosa (HP:0000433)2.61756624
65Bronchiectasis (HP:0002110)2.59051637
66Severe visual impairment (HP:0001141)2.53125067
67Constricted visual fields (HP:0001133)2.52661683
68Abnormality of binocular vision (HP:0011514)2.49279164
69Diplopia (HP:0000651)2.49279164
70Retinitis pigmentosa (HP:0000510)2.45661110
71Abnormality of the renal medulla (HP:0100957)2.43697817
72Cutaneous photosensitivity (HP:0000992)2.40644735
73Pustule (HP:0200039)2.40626847
74Focal seizures (HP:0007359)2.39447797
75Gastrointestinal infarctions (HP:0005244)2.38699765
76Bronchitis (HP:0012387)2.38667657
77Cholecystitis (HP:0001082)2.38025712
78Abnormal gallbladder physiology (HP:0012438)2.38025712
79Cone-rod dystrophy (HP:0000548)2.33991699
80Visual hallucinations (HP:0002367)2.30051952
81Pallor (HP:0000980)2.29368792
82Gait imbalance (HP:0002141)2.29122373
83Dysdiadochokinesis (HP:0002075)2.28414557
84Menorrhagia (HP:0000132)2.27410172
85Molar tooth sign on MRI (HP:0002419)2.27109159
86Abnormality of midbrain morphology (HP:0002418)2.27109159
87Gaze-evoked nystagmus (HP:0000640)2.25515789
88Hemiparesis (HP:0001269)2.24577784
89Congenital primary aphakia (HP:0007707)2.23277850
90Abnormality of nail color (HP:0100643)2.22587127
91Neurofibrillary tangles (HP:0002185)2.18529860
92Gingival bleeding (HP:0000225)2.17148163
93Febrile seizures (HP:0002373)2.16601942
94Retinal atrophy (HP:0001105)2.15041199
95Impaired platelet aggregation (HP:0003540)2.14819919
96Abnormal platelet function (HP:0011869)2.14819919
97Recurrent otitis media (HP:0000403)2.10997294
98Decreased motor nerve conduction velocity (HP:0003431)2.09669810
99Increased serum ferritin (HP:0003281)2.07854380
100Supranuclear gaze palsy (HP:0000605)2.07418285
101Peripheral hypomyelination (HP:0007182)2.05123146
102Hypertensive crisis (HP:0100735)2.03382212
103Recurrent sinusitis (HP:0011108)2.02769034
104Keratoconus (HP:0000563)2.01339463
105Increased corneal curvature (HP:0100692)2.01339463
106Aplasia/Hypoplasia of the lens (HP:0008063)2.01295577
107Abnormality of sodium homeostasis (HP:0010931)2.01141598
108Hyponatremia (HP:0002902)2.00789409
109Abnormality of the lower motor neuron (HP:0002366)2.00573061
110Abnormality of the heme biosynthetic pathway (HP:0010472)14.2739410
111Poikilocytosis (HP:0004447)10.6433417
112Hypochromic microcytic anemia (HP:0004840)10.1459529
113Hypoparathyroidism (HP:0000829)1.98737831
114Zonular cataract (HP:0010920)1.98703968
115Tubulointerstitial nephritis (HP:0001970)1.98289362
116Bundle branch block (HP:0011710)1.96874382
117Impaired vibration sensation in the lower limbs (HP:0002166)1.95567822
118Hepatocellular carcinoma (HP:0001402)1.92960299
119Ventricular fibrillation (HP:0001663)1.92516954
120Postural instability (HP:0002172)1.91183363
121Dysmetric saccades (HP:0000641)1.90910691
122Nephrogenic diabetes insipidus (HP:0009806)1.88769278
123Abnormality of ocular smooth pursuit (HP:0000617)1.88578263
124Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.88431345
125Slow saccadic eye movements (HP:0000514)1.85378680
126Impaired smooth pursuit (HP:0007772)1.84478407
127Abnormal spermatogenesis (HP:0008669)1.84403329
128Spastic tetraparesis (HP:0001285)1.84046498
129Spontaneous hematomas (HP:0007420)1.83569251
130Autoamputation (HP:0001218)1.83398040
131Aplasia/Hypoplasia of the earlobes (HP:0009906)1.82065928
132Cerebral inclusion bodies (HP:0100314)1.79929401
133Action tremor (HP:0002345)1.79031133
134Atonic seizures (HP:0010819)1.75929406
135Urinary bladder sphincter dysfunction (HP:0002839)1.75127771
136Nausea (HP:0002018)1.74318724
137Optic disc pallor (HP:0000543)1.73751776
138Exercise-induced myalgia (HP:0003738)1.73581211
139Purpura (HP:0000979)1.73463359
140Truncal ataxia (HP:0002078)1.73409410
141Osteomyelitis (HP:0002754)1.68479494
142Hyperventilation (HP:0002883)1.68111299
143Vaginal atresia (HP:0000148)1.67570569
144Onycholysis (HP:0001806)1.67480889
145Genital tract atresia (HP:0001827)1.66596268
146Abnormality of saccadic eye movements (HP:0000570)1.65765269
147Hyperthyroidism (HP:0000836)1.65385704
148Ankle clonus (HP:0011448)1.65291738
149Tubulointerstitial abnormality (HP:0001969)1.64938024
150Dysmetria (HP:0001310)1.63962104
151Absence seizures (HP:0002121)1.63642382
152Intention tremor (HP:0002080)1.63374286
153Retinal dysplasia (HP:0007973)1.62630686
154Poor coordination (HP:0002370)1.60842597
155Abnormal drinking behavior (HP:0030082)1.60374910
156Polydipsia (HP:0001959)1.60374910
157Tubular atrophy (HP:0000092)1.59936862
158Subcapsular cataract (HP:0000523)1.58771879
159Abnormal number of erythroid precursors (HP:0012131)1.58344046
160Genetic anticipation (HP:0003743)1.57400659
161Abnormal blistering of the skin (HP:0008066)1.57312235
162Urticaria (HP:0001025)1.57223304
163Global brain atrophy (HP:0002283)1.56565004
164Bowel incontinence (HP:0002607)1.55532148
165Albinism (HP:0001022)1.54649354
166Paresthesia (HP:0003401)1.53738464
167Abnormal large intestine physiology (HP:0012700)1.52317812
168Gastrointestinal dysmotility (HP:0002579)1.52208336
169Autoimmune thrombocytopenia (HP:0001973)1.51810773
170Dysautonomia (HP:0002459)1.50094246
171Bruising susceptibility (HP:0000978)1.49642601
172Delusions (HP:0000746)1.46020227
173Depression (HP:0000716)1.44879467
174Truncus arteriosus (HP:0001660)1.44203206
175Autoimmune hemolytic anemia (HP:0001890)1.37089860
176Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.35928840
177Spastic gait (HP:0002064)1.34829912
178Cerebral palsy (HP:0100021)1.30094715
179Erythema (HP:0010783)1.28909021
180Orthostatic hypotension (HP:0001278)1.28474082
181Testicular neoplasm (HP:0010788)1.27345503
182Renal tubular acidosis (HP:0001947)1.26777440
183Rectal prolapse (HP:0002035)1.26336555
184Hypertriglyceridemia (HP:0002155)1.26254062
185Muscle fibrillation (HP:0010546)1.26109500
186Abnormality of cells of the erythroid lineage (HP:0012130)1.24549803
187Intellectual disability, profound (HP:0002187)1.22513583
188Splenomegaly (HP:0001744)1.21186490

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK17.10694086
2PRKD35.48347918
3PDK35.14285014
4PDK45.14285014
5TESK14.94332750
6ICK3.90857945
7TAOK23.72885021
8MAP2K33.38147564
9PDK23.30227285
10MAP3K113.09851819
11STK382.75211605
12EPHA42.65334925
13BMX2.58155808
14GRK62.44683436
15NTRK32.18203910
16PTK2B2.18092396
17MAP3K32.10449668
18PNCK1.96713053
19WNK41.91501797
20GRK11.86651720
21STK391.85219524
22PIM11.81260625
23MAP3K41.68974263
24MARK11.68140893
25PINK11.66393442
26DYRK31.64702874
27MAP3K91.60160494
28PAK61.58298442
29CAMK1D1.56906087
30NTRK21.54573373
31STK41.54393892
32RIPK41.43852184
33CAMKK11.36146645
34MAP2K71.33867118
35CDK121.33681679
36DAPK21.33590979
37PDK11.29171552
38HIPK21.28631510
39MINK11.28069166
40MAP2K11.17007740
41WNK11.15517406
42SYK1.14755649
43MAP3K51.14628525
44TYRO31.08505441
45DYRK1B1.07707276
46PRKCG1.04251660
47PDPK10.99635292
48MARK30.99629545
49RPS6KA50.91733181
50CLK10.90312862
51TAOK30.90194686
52TRIB30.90026338
53TNIK0.89915096
54CAMK1G0.88508082
55RPS6KA20.85541164
56CDK50.85301916
57TRPM70.85066710
58CCNB10.85001278
59FGR0.84244012
60MAP3K60.83456029
61CASK0.82228493
62IRAK20.81946211
63RAF10.80810627
64BRAF0.80765565
65RPS6KC10.80694648
66RPS6KL10.80694648
67MAP2K40.78673827
68ZAP700.78347661
69MARK20.77961194
70MUSK0.77119582
71LMTK20.74166671
72MAP3K20.73701026
73RPS6KA60.73123556
74CAMK2A0.73052954
75JAK20.71217238
76GRK50.68390105
77SIK20.66594655
78STK110.65708839
79CAMK10.65345886
80PHKG20.64409346
81PHKG10.64409346
82CDK150.64174458
83MAP3K80.63668649
84SGK4940.63512882
85SGK2230.63512882
86MAP2K20.63282699
87SIK10.63136976
88NEK60.62971750
89CDK180.62165474
90NTRK10.61929882
91IRAK30.61040111
92PRPF4B0.59109674
93PRKCZ0.57715063
94PRKAA20.56872535
95BTK0.56805693
96FES0.56497263
97MAPK110.55370947
98CDK11A0.54642006
99PRKD20.54247034
100IKBKE0.54059623
101KSR20.52374082
102CDK140.52254561
103CAMK40.51820929
104PLK20.51349704
105MAPK130.51059812
106IKBKB0.50172440
107NEK20.50132875
108DAPK10.49356395
109PKN10.48657912
110BMPR20.47606125
111HCK0.47308686
112OXSR10.44217225
113PRKAA10.42264026
114PRKCH0.41482001
115SGK10.41421544
116MAP2K60.40695124
117DYRK1A0.40062487
118PLK30.38702996
119SGK20.38225583
120CAMK2D0.38112526
121MTOR0.37961745
122MAPKAPK50.37873446
123RET0.37730980
124RPS6KA30.37568152
125IRAK10.35730910
126PRKCB0.34969725
127BRSK10.34824949
128MAPK150.34754366
129CAMKK20.34672755
130DYRK20.34069134
131UHMK10.34037475
132AKT10.33880437
133INSRR0.33053394
134AKT20.32571130
135SIK30.32028367
136CDK190.31162401
137CAMK2B0.30237408
138TAOK10.29077393
139LYN0.28703895
140TNK20.28032094
141SGK30.27276967
142TLK10.27129556
143PRKG10.26523283
144ERBB20.26406548
145MAPK100.26283854
146PRKCA0.25849261
147PRKACG0.25167302
148CDK30.25100971
149GSK3B0.25000887
150CDC42BPA0.24834278
151RIPK10.24765531
152CSNK1D0.24529527
153PRKACA0.24521670
154ARAF0.24136016
155MAPK120.23372731
156KSR10.23039003
157MAP3K10.22624669
158PAK30.20503974

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047446.52768697
2Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008603.86139180
3Malaria_Homo sapiens_hsa051443.00964733
4Synaptic vesicle cycle_Homo sapiens_hsa047212.91111638
5Nicotine addiction_Homo sapiens_hsa050332.73128631
6Olfactory transduction_Homo sapiens_hsa047402.39143480
7Non-small cell lung cancer_Homo sapiens_hsa052232.35248384
8Circadian entrainment_Homo sapiens_hsa047132.24552015
9Amphetamine addiction_Homo sapiens_hsa050312.24193191
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.19128904
11Fatty acid biosynthesis_Homo sapiens_hsa000612.14536186
12Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.12724903
13Glutamatergic synapse_Homo sapiens_hsa047242.11313984
14Long-term potentiation_Homo sapiens_hsa047202.02459283
15GABAergic synapse_Homo sapiens_hsa047272.00925912
16Morphine addiction_Homo sapiens_hsa050321.96293464
17Insulin secretion_Homo sapiens_hsa049111.94323923
18Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.93166519
19Chronic myeloid leukemia_Homo sapiens_hsa052201.87119253
20Salivary secretion_Homo sapiens_hsa049701.86070489
21Regulation of autophagy_Homo sapiens_hsa041401.83437680
22Pancreatic cancer_Homo sapiens_hsa052121.82833730
23African trypanosomiasis_Homo sapiens_hsa051431.76154326
24Renin secretion_Homo sapiens_hsa049241.72857774
25Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.68431057
26Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.61744543
27Dopaminergic synapse_Homo sapiens_hsa047281.61087712
28Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.60518316
29Cardiac muscle contraction_Homo sapiens_hsa042601.58867005
30Carbohydrate digestion and absorption_Homo sapiens_hsa049731.58140796
31Gastric acid secretion_Homo sapiens_hsa049711.52065193
32Acute myeloid leukemia_Homo sapiens_hsa052211.49411114
33Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.47467670
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.44065875
35Cholinergic synapse_Homo sapiens_hsa047251.42693872
36Calcium signaling pathway_Homo sapiens_hsa040201.42619796
37Renal cell carcinoma_Homo sapiens_hsa052111.41340113
38Taste transduction_Homo sapiens_hsa047421.40850828
39Glucagon signaling pathway_Homo sapiens_hsa049221.40536407
40mTOR signaling pathway_Homo sapiens_hsa041501.40206085
41Endometrial cancer_Homo sapiens_hsa052131.39722341
42Collecting duct acid secretion_Homo sapiens_hsa049661.38883337
43Aldosterone synthesis and secretion_Homo sapiens_hsa049251.38389049
44Platelet activation_Homo sapiens_hsa046111.38283947
45Oxytocin signaling pathway_Homo sapiens_hsa049211.32724353
46cGMP-PKG signaling pathway_Homo sapiens_hsa040221.27177646
47alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.24222008
48FoxO signaling pathway_Homo sapiens_hsa040681.19532557
49Cocaine addiction_Homo sapiens_hsa050301.18903997
50cAMP signaling pathway_Homo sapiens_hsa040241.16283958
51Linoleic acid metabolism_Homo sapiens_hsa005911.16046263
52Phosphatidylinositol signaling system_Homo sapiens_hsa040701.13643895
53Glycerophospholipid metabolism_Homo sapiens_hsa005641.09285461
54Bladder cancer_Homo sapiens_hsa052191.06670790
55Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.04564967
56SNARE interactions in vesicular transport_Homo sapiens_hsa041301.03870567
57B cell receptor signaling pathway_Homo sapiens_hsa046621.03357017
58Serotonergic synapse_Homo sapiens_hsa047261.03303281
59Hematopoietic cell lineage_Homo sapiens_hsa046401.01475630
60Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.01088641
61Oocyte meiosis_Homo sapiens_hsa041141.00607379
62HIF-1 signaling pathway_Homo sapiens_hsa040661.00520473
63Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.98434704
64Vascular smooth muscle contraction_Homo sapiens_hsa042700.96625034
65Small cell lung cancer_Homo sapiens_hsa052220.95032890
66Pyruvate metabolism_Homo sapiens_hsa006200.94375165
67Dorso-ventral axis formation_Homo sapiens_hsa043200.93985711
68Pancreatic secretion_Homo sapiens_hsa049720.93583481
69Estrogen signaling pathway_Homo sapiens_hsa049150.93577143
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.93120887
71Glycerolipid metabolism_Homo sapiens_hsa005610.93078382
72Mineral absorption_Homo sapiens_hsa049780.92491239
73Type II diabetes mellitus_Homo sapiens_hsa049300.90483941
74Apoptosis_Homo sapiens_hsa042100.87947953
75Vitamin B6 metabolism_Homo sapiens_hsa007500.84496963
76Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.84433513
77Prolactin signaling pathway_Homo sapiens_hsa049170.83726856
78Long-term depression_Homo sapiens_hsa047300.82992189
79Insulin signaling pathway_Homo sapiens_hsa049100.80875689
80Jak-STAT signaling pathway_Homo sapiens_hsa046300.78748869
81Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.78645639
82Thyroid hormone synthesis_Homo sapiens_hsa049180.78090879
83Ether lipid metabolism_Homo sapiens_hsa005650.77081823
84Fructose and mannose metabolism_Homo sapiens_hsa000510.76937298
85Chemokine signaling pathway_Homo sapiens_hsa040620.74561670
86Inositol phosphate metabolism_Homo sapiens_hsa005620.74451439
87Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.74425942
88Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.74242285
89T cell receptor signaling pathway_Homo sapiens_hsa046600.74028225
90Osteoclast differentiation_Homo sapiens_hsa043800.72785260
91Hepatitis B_Homo sapiens_hsa051610.72356771
92Transcriptional misregulation in cancer_Homo sapiens_hsa052020.70485875
93Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.69933385
94Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69105443
95Notch signaling pathway_Homo sapiens_hsa043300.67248250
96GnRH signaling pathway_Homo sapiens_hsa049120.67128154
97Thyroid cancer_Homo sapiens_hsa052160.65829871
98Gap junction_Homo sapiens_hsa045400.65280695
99Cell cycle_Homo sapiens_hsa041100.63793078
100Prostate cancer_Homo sapiens_hsa052150.61967635
101Bile secretion_Homo sapiens_hsa049760.61545649
102Thyroid hormone signaling pathway_Homo sapiens_hsa049190.60937536
103Hepatitis C_Homo sapiens_hsa051600.60495109
104Dilated cardiomyopathy_Homo sapiens_hsa054140.58554355
105Melanoma_Homo sapiens_hsa052180.57741975
106Viral carcinogenesis_Homo sapiens_hsa052030.55578495
107Axon guidance_Homo sapiens_hsa043600.55145631
108Phospholipase D signaling pathway_Homo sapiens_hsa040720.54579338
109Sphingolipid signaling pathway_Homo sapiens_hsa040710.54249454
110Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.53389778
111Circadian rhythm_Homo sapiens_hsa047100.52597193
112Toll-like receptor signaling pathway_Homo sapiens_hsa046200.51826071
113Alcoholism_Homo sapiens_hsa050340.51052643
114Propanoate metabolism_Homo sapiens_hsa006400.50842929
115Nitrogen metabolism_Homo sapiens_hsa009100.50204216
116Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50126539
117Melanogenesis_Homo sapiens_hsa049160.49338889
118Endocytosis_Homo sapiens_hsa041440.49091653
119Hedgehog signaling pathway_Homo sapiens_hsa043400.48661208
120Insulin resistance_Homo sapiens_hsa049310.45843326
121Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45004485
122VEGF signaling pathway_Homo sapiens_hsa043700.44853905
123Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.44696358
124MAPK signaling pathway_Homo sapiens_hsa040100.43651945
125PPAR signaling pathway_Homo sapiens_hsa033200.42886005
126Vibrio cholerae infection_Homo sapiens_hsa051100.42494764
127Measles_Homo sapiens_hsa051620.40326312
128Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39706553
129Adipocytokine signaling pathway_Homo sapiens_hsa049200.39411918
130Toxoplasmosis_Homo sapiens_hsa051450.39303859
131Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.39250872
132Glioma_Homo sapiens_hsa052140.38561627
133Central carbon metabolism in cancer_Homo sapiens_hsa052300.38505190
134Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34538860
135Fatty acid metabolism_Homo sapiens_hsa012120.34032050
136Longevity regulating pathway - mammal_Homo sapiens_hsa042110.33487472
137Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.33437493
138Choline metabolism in cancer_Homo sapiens_hsa052310.33412919
139ErbB signaling pathway_Homo sapiens_hsa040120.32368112
140AMPK signaling pathway_Homo sapiens_hsa041520.31973761
141Ras signaling pathway_Homo sapiens_hsa040140.31160557
142ABC transporters_Homo sapiens_hsa020100.30926494
143Wnt signaling pathway_Homo sapiens_hsa043100.30384576
144Fat digestion and absorption_Homo sapiens_hsa049750.27725763
145Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.27051767
146Purine metabolism_Homo sapiens_hsa002300.24047813
147Huntingtons disease_Homo sapiens_hsa050160.23714526

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