GP1BB

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: Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine deoxyribonucleotide catabolic process (GO:0009223)7.14035481
2thrombin receptor signaling pathway (GO:0070493)6.87747589
3negative regulation of erythrocyte differentiation (GO:0045647)6.68511297
4definitive hemopoiesis (GO:0060216)6.15127976
5pyrimidine nucleotide catabolic process (GO:0006244)6.11221421
6deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.83369156
7platelet aggregation (GO:0070527)5.78076149
8neuron cell-cell adhesion (GO:0007158)5.53072638
9neuronal action potential propagation (GO:0019227)5.10648979
10vocalization behavior (GO:0071625)5.01475288
11regulation of erythrocyte differentiation (GO:0045646)4.98069034
12pyrimidine deoxyribonucleotide metabolic process (GO:0009219)4.96976545
13endothelium development (GO:0003158)4.79045823
14protein localization to synapse (GO:0035418)4.77459419
15presynaptic membrane assembly (GO:0097105)4.63150194
16lipoxygenase pathway (GO:0019372)4.56065631
17neuron recognition (GO:0008038)4.54407932
18glutamate receptor signaling pathway (GO:0007215)4.54086039
19positive regulation of granulocyte differentiation (GO:0030854)4.50135309
20ionotropic glutamate receptor signaling pathway (GO:0035235)4.47624982
21regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.47613223
22autophagic vacuole fusion (GO:0000046)4.44394659
23postsynaptic membrane organization (GO:0001941)4.31669853
24deoxyribonucleotide catabolic process (GO:0009264)4.30663111
25mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.28705911
26granulocyte differentiation (GO:0030851)4.24283212
27regulation of short-term neuronal synaptic plasticity (GO:0048172)4.24171660
28regulation of platelet aggregation (GO:0090330)4.23151681
29presynaptic membrane organization (GO:0097090)4.18608109
30gamma-aminobutyric acid signaling pathway (GO:0007214)4.14960266
31synaptic vesicle exocytosis (GO:0016079)4.08453344
32positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.07517491
33cellular response to thyroid hormone stimulus (GO:0097067)4.05884940
34positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.05753136
35deoxyribose phosphate catabolic process (GO:0046386)4.02706105
36homotypic cell-cell adhesion (GO:0034109)4.02396093
37regulation of platelet activation (GO:0010543)3.98182235
38angiogenesis involved in wound healing (GO:0060055)3.97714537
39mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.89662436
40axonal fasciculation (GO:0007413)3.88706044
41aggressive behavior (GO:0002118)3.87095611
42negative regulation of synaptic transmission, GABAergic (GO:0032229)3.84991651
43monoamine transport (GO:0015844)3.84179260
44regulation of glutamate receptor signaling pathway (GO:1900449)3.83069412
45positive regulation of megakaryocyte differentiation (GO:0045654)3.83028422
46regulation of inositol phosphate biosynthetic process (GO:0010919)3.75322545
47chaperone-mediated protein transport (GO:0072321)3.75278549
48G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.75039708
49positive regulation of synapse assembly (GO:0051965)3.75023217
50negative regulation of macrophage differentiation (GO:0045650)3.74751896
51positive regulation of B cell differentiation (GO:0045579)3.68793957
52energy coupled proton transport, down electrochemical gradient (GO:0015985)3.67875581
53ATP synthesis coupled proton transport (GO:0015986)3.67875581
54regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.66859126
55synaptic transmission, glutamatergic (GO:0035249)3.65611285
56regulation of mast cell degranulation (GO:0043304)3.64077568
57positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.59994543
58neuron-neuron synaptic transmission (GO:0007270)3.59435357
59Arp2/3 complex-mediated actin nucleation (GO:0034314)3.54810740
60establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.54527587
61mitochondrion transport along microtubule (GO:0047497)3.54527587
62respiratory electron transport chain (GO:0022904)3.50435556
63glutamate secretion (GO:0014047)3.48352340
64regulation of integrin activation (GO:0033623)3.48183001
65dendritic spine morphogenesis (GO:0060997)3.47526399
66* blood coagulation, intrinsic pathway (GO:0007597)3.47034243
67regulation of mast cell activation involved in immune response (GO:0033006)3.46816998
68megakaryocyte development (GO:0035855)3.44791979
69regulation of synaptic vesicle exocytosis (GO:2000300)3.42561343
70electron transport chain (GO:0022900)3.42542754
71negative regulation of appetite (GO:0032099)3.41845234
72negative regulation of response to food (GO:0032096)3.41845234
73regulation of vesicle fusion (GO:0031338)3.40862417
74NADH dehydrogenase complex assembly (GO:0010257)3.38493634
75mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.38493634
76mitochondrial respiratory chain complex I assembly (GO:0032981)3.38493634
77positive regulation of mast cell activation (GO:0033005)3.32224722
78cyclooxygenase pathway (GO:0019371)3.31942584
79purinergic nucleotide receptor signaling pathway (GO:0035590)3.31691773
80regulation of granulocyte differentiation (GO:0030852)3.31274945
81transmission of nerve impulse (GO:0019226)3.26303620
82regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.25679380
83regulation of female receptivity (GO:0045924)3.24918819
84regulation of excitatory postsynaptic membrane potential (GO:0060079)3.24006926
85organelle membrane fusion (GO:0090174)3.23579763
86regulation of long-term neuronal synaptic plasticity (GO:0048169)3.22865483
87establishment of mitochondrion localization (GO:0051654)3.22864284
88short-term memory (GO:0007614)3.21002957
89regulation of postsynaptic membrane potential (GO:0060078)3.20051760
90urogenital system development (GO:0001655)3.15615567
912-deoxyribonucleotide metabolic process (GO:0009394)3.12350930
92regulation of sensory perception of pain (GO:0051930)3.12086985
93regulation of sensory perception (GO:0051931)3.12086985
94response to histamine (GO:0034776)3.10254008
95neuron remodeling (GO:0016322)3.09270529
96regulation of synapse assembly (GO:0051963)3.08593050
97neurotransmitter secretion (GO:0007269)3.07946771
98regulation of megakaryocyte differentiation (GO:0045652)3.07892275
99protein complex biogenesis (GO:0070271)3.06990785
100GTP biosynthetic process (GO:0006183)3.05930771
101layer formation in cerebral cortex (GO:0021819)3.04951708
102righting reflex (GO:0060013)3.03481890
103positive regulation of erythrocyte differentiation (GO:0045648)3.01577070
104synapse assembly (GO:0007416)3.00486254
105behavioral response to cocaine (GO:0048148)2.99839566
106regulation of hypersensitivity (GO:0002883)2.99680440
107long-term memory (GO:0007616)2.98986195
108regulation of neuronal synaptic plasticity (GO:0048168)2.98954429
109regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.98461690
110sequestering of actin monomers (GO:0042989)2.98274570
111neutrophil activation involved in immune response (GO:0002283)2.97699817
112regulation of glutamate secretion (GO:0014048)2.97159957
113positive regulation of mast cell activation involved in immune response (GO:0033008)2.96335476
114positive regulation of mast cell degranulation (GO:0043306)2.96335476
115positive regulation of membrane potential (GO:0045838)2.95677650
116positive regulation of endothelial cell differentiation (GO:0045603)2.95555656
117actin nucleation (GO:0045010)2.95447080
118synaptic transmission, dopaminergic (GO:0001963)2.95331645
119regulation of synaptic vesicle transport (GO:1902803)2.94738835
120positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.93679165
121regulation of hydrogen peroxide metabolic process (GO:0010310)2.93122763
122exploration behavior (GO:0035640)2.92470298
123oxygen transport (GO:0015671)2.90608517
124deoxyribose phosphate metabolic process (GO:0019692)2.90052152
125detection of calcium ion (GO:0005513)2.89852755
126regulation of dendritic spine development (GO:0060998)2.88540010
127regulation of protein kinase A signaling (GO:0010738)2.87311304
128regulation of dendritic spine morphogenesis (GO:0061001)2.86112990
129pyrimidine nucleoside monophosphate metabolic process (GO:0009129)2.85414046
130regulation of mast cell activation (GO:0033003)2.83940534
131regulation of synaptic transmission, glutamatergic (GO:0051966)2.83701193
132mitochondrial calcium ion transport (GO:0006851)2.82127381
133prostaglandin biosynthetic process (GO:0001516)2.81896253
134prostanoid biosynthetic process (GO:0046457)2.81896253
135positive regulation of dendritic spine development (GO:0060999)2.81536585
136response to thyroid hormone (GO:0097066)2.80823906
137mating behavior (GO:0007617)2.80112527
138startle response (GO:0001964)2.80028096
139long term synaptic depression (GO:0060292)2.80022467
140learning (GO:0007612)2.79874057
141purinergic receptor signaling pathway (GO:0035587)2.79803908
142regulation of histone H3-K9 methylation (GO:0051570)2.78381274
143base-excision repair, AP site formation (GO:0006285)2.77987910
144membrane depolarization (GO:0051899)2.77932033
145membrane hyperpolarization (GO:0060081)2.77482406
146cochlea development (GO:0090102)2.75670738
147long-term synaptic potentiation (GO:0060291)2.75501063
148fear response (GO:0042596)2.73998399
149neurotransmitter transport (GO:0006836)2.73155300
150cell migration in hindbrain (GO:0021535)2.73148348
151positive regulation of neurotransmitter secretion (GO:0001956)2.73125389
152protoporphyrinogen IX metabolic process (GO:0046501)2.72738763
153regulation of neurotransmitter secretion (GO:0046928)2.72347608
154female mating behavior (GO:0060180)2.69416610
155response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.68997758
156response to host immune response (GO:0052572)2.68997758
157calcium-mediated signaling using intracellular calcium source (GO:0035584)2.68742467
158positive regulation of microtubule polymerization or depolymerization (GO:0031112)2.67906283
159locomotory exploration behavior (GO:0035641)2.67731212
160gamma-aminobutyric acid transport (GO:0015812)2.67703421
161G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.67471421
162regulation of synaptic plasticity (GO:0048167)2.67408964
163regulation of synaptic transmission, GABAergic (GO:0032228)2.67400710
164serotonin receptor signaling pathway (GO:0007210)2.65932288
165positive regulation of synaptic transmission, GABAergic (GO:0032230)2.63801178
166neurotransmitter-gated ion channel clustering (GO:0072578)2.63702531
167positive regulation of microtubule polymerization (GO:0031116)2.63685489
168cerebellar Purkinje cell differentiation (GO:0021702)2.62630541
169social behavior (GO:0035176)2.61300243
170intraspecies interaction between organisms (GO:0051703)2.61300243
171blood vessel maturation (GO:0001955)2.61116405
172positive regulation of dendritic spine morphogenesis (GO:0061003)2.60458598
173regulation of respiratory system process (GO:0044065)2.60379439
174positive regulation of synapse maturation (GO:0090129)2.59436337
175positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.59106700
176relaxation of smooth muscle (GO:0044557)2.58973591
177regulation of synapse organization (GO:0050807)2.57939394
178behavioral fear response (GO:0001662)2.57739803
179behavioral defense response (GO:0002209)2.57739803
180positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.57179560
181cerebellar granule cell differentiation (GO:0021707)2.56363345
182positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)2.55896983
183protein kinase C signaling (GO:0070528)2.55322578
184synaptic transmission (GO:0007268)2.54525276
185synaptic vesicle maturation (GO:0016188)2.54214267
186mitochondrial respiratory chain complex assembly (GO:0033108)2.53689101
187negative regulation of stress fiber assembly (GO:0051497)2.53114986
188myeloid cell development (GO:0061515)2.52762302
189arachidonic acid metabolic process (GO:0019369)2.52316001
190fatty acid derivative biosynthetic process (GO:1901570)2.52138828
191icosanoid biosynthetic process (GO:0046456)2.52138828
192purine-containing compound salvage (GO:0043101)2.51389126
193short-chain fatty acid metabolic process (GO:0046459)2.51243319
194negative regulation of bone mineralization (GO:0030502)2.51110812
195protoporphyrinogen IX biosynthetic process (GO:0006782)2.51033603
196vesicle docking involved in exocytosis (GO:0006904)2.50555569
197dopamine transport (GO:0015872)2.50331382
198metallo-sulfur cluster assembly (GO:0031163)2.49003390

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SCL_19346495_ChIP-Seq_HPC-7_Human7.09667969
2EZH2_22144423_ChIP-Seq_EOC_Human6.83122636
3TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.37403241
4LYL1_20887958_ChIP-Seq_HPC-7_Mouse3.65435257
5GBX2_23144817_ChIP-Seq_PC3_Human3.55040399
6GATA1_19941826_ChIP-Seq_K562_Human3.27925037
7* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.27673602
8RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.23566929
9* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.13182787
10SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.09610564
11SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.92964336
12* EZH2_27304074_Chip-Seq_ESCs_Mouse2.86974533
13TAF15_26573619_Chip-Seq_HEK293_Human2.78941225
14* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.75692472
15* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.75494673
16* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.70353991
17* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.70353991
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.69515908
19SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.67291892
20* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.61238275
21LMO2_20887958_ChIP-Seq_HPC-7_Mouse2.59029285
22MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.58690236
23GATA2_20887958_ChIP-Seq_HPC-7_Mouse2.55593939
24* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.52298997
25BMI1_23680149_ChIP-Seq_NPCS_Mouse2.44920373
26GATA1_19941827_ChIP-Seq_MEL_Mouse2.43440291
27CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.34502888
28* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.30869328
29* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.30389304
30* EZH2_27294783_Chip-Seq_ESCs_Mouse2.29592754
31* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.29262417
32CTBP1_25329375_ChIP-Seq_LNCAP_Human2.19582033
33CTBP2_25329375_ChIP-Seq_LNCAP_Human2.16376245
34REST_21632747_ChIP-Seq_MESCs_Mouse2.14558144
35CBX2_27304074_Chip-Seq_ESCs_Mouse2.13259686
36MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.10584486
37TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.10103702
38* RNF2_27304074_Chip-Seq_ESCs_Mouse2.09749910
39E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.08812652
40ZFP57_27257070_Chip-Seq_ESCs_Mouse2.05719123
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.87762078
42PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.86178263
43BCL6_27268052_Chip-Seq_Bcells_Human1.85862795
44* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.85107148
45TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.84611606
46VDR_21846776_ChIP-Seq_THP-1_Human1.84204702
47GATA2_19941826_ChIP-Seq_K562_Human1.80984973
48AR_21572438_ChIP-Seq_LNCaP_Human1.79797701
49IKZF1_21737484_ChIP-ChIP_HCT116_Human1.78677812
50P300_19829295_ChIP-Seq_ESCs_Human1.77226274
51VDR_22108803_ChIP-Seq_LS180_Human1.76758833
52FUS_26573619_Chip-Seq_HEK293_Human1.72959035
53THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.71274979
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.69565383
55GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.68067418
56FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.66628405
57PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.65845959
58NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.64470858
59BP1_19119308_ChIP-ChIP_Hs578T_Human1.64224217
60SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.61016657
61RNF2_27304074_Chip-Seq_NSC_Mouse1.60601813
62RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.60378321
63DROSHA_22980978_ChIP-Seq_HELA_Human1.60074187
64REST_18959480_ChIP-ChIP_MESCs_Mouse1.56519766
65P68_20966046_ChIP-Seq_HELA_Human1.56361275
66SMAD4_21799915_ChIP-Seq_A2780_Human1.54271932
67PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.51657833
68SMAD3_21741376_ChIP-Seq_EPCs_Human1.50261553
69ELF1_20517297_ChIP-Seq_JURKAT_Human1.50144562
70TOP2B_26459242_ChIP-Seq_MCF-7_Human1.49935572
71IGF1R_20145208_ChIP-Seq_DFB_Human1.49000071
72PIAS1_25552417_ChIP-Seq_VCAP_Human1.48830740
73ELF1_17652178_ChIP-ChIP_JURKAT_Human1.48812534
74BCOR_27268052_Chip-Seq_Bcells_Human1.48723111
75MYC_22102868_ChIP-Seq_BL_Human1.47423398
76POU3F2_20337985_ChIP-ChIP_501MEL_Human1.47335241
77P300_27268052_Chip-Seq_Bcells_Human1.46268025
78RARB_27405468_Chip-Seq_BRAIN_Mouse1.45654682
79ZNF274_21170338_ChIP-Seq_K562_Hela1.44851174
80GATA2_22383799_ChIP-Seq_G1ME_Mouse1.43744329
81DNAJC2_21179169_ChIP-ChIP_NT2_Human1.43600581
82CTCF_26484167_Chip-Seq_Bcells_Mouse1.38206546
83CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37997923
84CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.35695817
85SRY_22984422_ChIP-ChIP_TESTIS_Rat1.34840586
86UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.32694703
87* RUNX1_22412390_ChIP-Seq_EML_Mouse1.32017241
88EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.29511061
89CTCF_20526341_ChIP-Seq_ESCs_Human1.29337667
90YY1_22570637_ChIP-Seq_MALME-3M_Human1.27536315
91SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.25023558
92LXR_22292898_ChIP-Seq_THP-1_Human1.24904417
93RING1B_27294783_Chip-Seq_ESCs_Mouse1.23622409
94VDR_24763502_ChIP-Seq_THP-1_Human1.23582470
95SPI1_20517297_ChIP-Seq_HL60_Human1.22927604
96SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.22917786
97UTX_26944678_Chip-Seq_JUKART_Human1.22181258
98AR_25329375_ChIP-Seq_VCAP_Human1.21801527
99BCAT_22108803_ChIP-Seq_LS180_Human1.21591121
100* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.21515973
101HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.20914878
102OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19341643
103NANOG_18555785_Chip-Seq_ESCs_Mouse1.18579497
104EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.18523143
105TET1_21451524_ChIP-Seq_MESCs_Mouse1.18312841
106SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.17902830
107TP53_18474530_ChIP-ChIP_U2OS_Human1.17504580
108TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17359650
109E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.17004555
110SA1_27219007_Chip-Seq_ERYTHROID_Human1.16888036
111RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.16592144
112SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.16058951
113E2F1_20622854_ChIP-Seq_HELA_Human1.14589665
114TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.14503419
115ER_23166858_ChIP-Seq_MCF-7_Human1.12893598
116* NCOR1_26117541_ChIP-Seq_K562_Human1.12892679
117SPI1_23127762_ChIP-Seq_K562_Human1.12857381
118EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.11492534
119RING1B_27294783_Chip-Seq_NPCs_Mouse1.10045377
120SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.09385513
121GATA2_21666600_ChIP-Seq_HMVEC_Human1.09087811
122NR3C1_23031785_ChIP-Seq_PC12_Mouse1.08849859
123RUNX2_22187159_ChIP-Seq_PCA_Human1.08790693
124SRF_21415370_ChIP-Seq_HL-1_Mouse1.07723607
125CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07647355
126* ERG_21242973_ChIP-ChIP_JURKAT_Human1.07415780
127PRDM14_20953172_ChIP-Seq_ESCs_Human1.06972836
128CTCF_18555785_ChIP-Seq_MESCs_Mouse1.06770144
129TP53_20018659_ChIP-ChIP_R1E_Mouse1.06323000
130CTCF_27219007_Chip-Seq_ERYTHROID_Human1.05697297
131GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05241641
132FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05050563
133TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04214640
134POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04214640
135GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.03756232
136NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.03559282
137* JUN_21703547_ChIP-Seq_K562_Human1.03146428
138P53_22387025_ChIP-Seq_ESCs_Mouse1.02913725
139SPI1_23547873_ChIP-Seq_NB4_Human1.02413914
140CTCF_21964334_ChIP-Seq_BJAB-B_Human1.02397986
141PHF8_20622854_ChIP-Seq_HELA_Human1.02362709
142CTCF_27219007_Chip-Seq_Bcells_Human1.01224582
143E2F1_18555785_Chip-Seq_ESCs_Mouse1.01006107
144PCGF2_27294783_Chip-Seq_ESCs_Mouse1.00824299
145CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.00115473
146SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.00051443
147KDM2B_26808549_Chip-Seq_REH_Human0.99667532
148SOX2_21211035_ChIP-Seq_LN229_Gbm0.98655745
149ZNF263_19887448_ChIP-Seq_K562_Human0.97346112
150MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97013852
151ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.96382074
152NANOG_20526341_ChIP-Seq_ESCs_Human0.96192143
153AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.95733152
154SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95287097
155CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.95068341
156P53_22127205_ChIP-Seq_FIBROBLAST_Human0.94078842
157CMYC_18555785_Chip-Seq_ESCs_Mouse0.94054569
158SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.93689777
159ARNT_22903824_ChIP-Seq_MCF-7_Human0.93262284
160STAT3_23295773_ChIP-Seq_U87_Human0.93148216
161ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.93041085
162EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse0.92832252
163NR3C1_21868756_ChIP-Seq_MCF10A_Human0.91338184
164MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91222935
165TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91124771
166* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.91012523
167CTCF_21964334_Chip-Seq_Bcells_Human0.90757555
168FLI1_27457419_Chip-Seq_LIVER_Mouse0.90482656
169SUZ12_18555785_Chip-Seq_ESCs_Mouse0.90429694
170VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.89968997
171ERA_21632823_ChIP-Seq_H3396_Human0.89943461
172ZNF217_24962896_ChIP-Seq_MCF-7_Human0.89653694
173AHR_22903824_ChIP-Seq_MCF-7_Human0.89377149
174THAP11_20581084_ChIP-Seq_MESCs_Mouse0.89360148
175TCF4_23295773_ChIP-Seq_U87_Human0.89313060
176OCT4_19829295_ChIP-Seq_ESCs_Human0.88938841
177PU.1_20513432_ChIP-Seq_Bcells_Mouse0.88772960
178ETV2_25802403_ChIP-Seq_MESCs_Mouse0.88523681
179ELK4_26923725_Chip-Seq_MESODERM_Mouse0.87642765
180TAF2_19829295_ChIP-Seq_ESCs_Human0.87301291
181KDM2B_26808549_Chip-Seq_DND41_Human0.87120615
182* MAF_26560356_Chip-Seq_TH1_Human0.86376785
183SUZ12_27294783_Chip-Seq_NPCs_Mouse0.86326455
184* TCF7_22412390_ChIP-Seq_EML_Mouse0.86286914
185P300_18555785_Chip-Seq_ESCs_Mouse0.86109535
186FOXP1_21924763_ChIP-Seq_HESCs_Human0.85573066
187SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.85329380

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000465_gastrointestinal_hemorrhage7.66478099
2MP0005464_abnormal_platelet_physiology6.52721647
3MP0003880_abnormal_central_pattern5.62354584
4MP0004859_abnormal_synaptic_plasticity4.15374054
5MP0009379_abnormal_foot_pigmentation3.64278201
6MP0001968_abnormal_touch/_nociception3.34674690
7MP0003635_abnormal_synaptic_transmissio3.32674116
8MP0001545_abnormal_hematopoietic_system3.06936540
9MP0005397_hematopoietic_system_phenotyp3.06936540
10MP0009745_abnormal_behavioral_response3.00667456
11MP0006276_abnormal_autonomic_nervous2.94188431
12MP0004270_analgesia2.93499605
13MP0002736_abnormal_nociception_after2.81390808
14MP0002064_seizures2.66092244
15MP0002063_abnormal_learning/memory/cond2.63105902
16MP0002572_abnormal_emotion/affect_behav2.53376505
17MP0009046_muscle_twitch2.48766649
18MP0001188_hyperpigmentation2.47939174
19MP0002132_abnormal_respiratory_system2.39837532
20MP0002734_abnormal_mechanical_nocicepti2.37664956
21MP0001501_abnormal_sleep_pattern2.36157523
22MP0002272_abnormal_nervous_system2.33821935
23MP0001440_abnormal_grooming_behavior2.33092235
24MP0001486_abnormal_startle_reflex2.32215901
25MP0002735_abnormal_chemical_nociception2.20583745
26MP0005423_abnormal_somatic_nervous2.16572489
27MP0002733_abnormal_thermal_nociception2.14943316
28MP0003724_increased_susceptibility_to2.13407140
29MP0009278_abnormal_bone_marrow2.09171482
30MP0000778_abnormal_nervous_system2.01203257
31MP0002067_abnormal_sensory_capabilities1.98871191
32MP0001970_abnormal_pain_threshold1.97413520
33MP0002184_abnormal_innervation1.88430210
34MP0002557_abnormal_social/conspecific_i1.80171429
35MP0001529_abnormal_vocalization1.79916059
36MP0006036_abnormal_mitochondrial_physio1.74812090
37MP0010386_abnormal_urinary_bladder1.73907272
38MP0005409_darkened_coat_color1.69701903
39MP0005084_abnormal_gallbladder_morpholo1.68426659
40MP0002822_catalepsy1.65200114
41MP0003806_abnormal_nucleotide_metabolis1.61800500
42MP0001905_abnormal_dopamine_level1.61166265
43MP0004147_increased_porphyrin_level1.56945704
44MP0004742_abnormal_vestibular_system1.53270152
45MP0001984_abnormal_olfaction1.52435008
46MP0008995_early_reproductive_senescence1.47881138
47MP0002102_abnormal_ear_morphology1.47107012
48MP0004142_abnormal_muscle_tone1.44295662
49MP0003186_abnormal_redox_activity1.43844023
50MP0002163_abnormal_gland_morphology1.41481138
51MP0000230_abnormal_systemic_arterial1.38885625
52MP0005167_abnormal_blood-brain_barrier1.38285438
53MP0003303_peritoneal_inflammation1.36204916
54MP0005535_abnormal_body_temperature1.35233750
55MP0005083_abnormal_biliary_tract1.35159945
56MP0003866_abnormal_defecation1.33609883
57MP0004924_abnormal_behavior1.32905439
58MP0005386_behavior/neurological_phenoty1.32905439
59MP0002638_abnormal_pupillary_reflex1.29911347
60MP0002882_abnormal_neuron_morphology1.29683412
61MP0002837_dystrophic_cardiac_calcinosis1.29320152
62MP0005551_abnormal_eye_electrophysiolog1.28223394
63MP0003879_abnormal_hair_cell1.26517186
64MP0005379_endocrine/exocrine_gland_phen1.23695808
65MP0003122_maternal_imprinting1.21262715
66MP0002653_abnormal_ependyma_morphology1.20718037
67MP0000516_abnormal_urinary_system1.20661955
68MP0005367_renal/urinary_system_phenotyp1.20661955
69MP0001851_eye_inflammation1.20514124
70MP0000955_abnormal_spinal_cord1.20005277
71MP0004145_abnormal_muscle_electrophysio1.19558615
72MP0003656_abnormal_erythrocyte_physiolo1.18049271
73MP0008569_lethality_at_weaning1.16912021
74MP0002066_abnormal_motor_capabilities/c1.16866103
75MP0005636_abnormal_mineral_homeostasis1.16563291
76MP0006054_spinal_hemorrhage1.15633720
77MP0001485_abnormal_pinna_reflex1.14421034
78MP0003638_abnormal_response/metabolism_1.13844130
79MP0005410_abnormal_fertilization1.13432040
80MP0003329_amyloid_beta_deposits1.13059214
81MP0006292_abnormal_olfactory_placode1.12473705
82* MP0002398_abnormal_bone_marrow1.12346145
83MP0003136_yellow_coat_color1.11418844
84MP0005645_abnormal_hypothalamus_physiol1.10913421
85MP0001664_abnormal_digestion1.09529488
86MP0000689_abnormal_spleen_morphology1.09252100
87MP0003938_abnormal_ear_development1.08413380
88MP0001963_abnormal_hearing_physiology1.08168390
89MP0000026_abnormal_inner_ear1.08163021
90MP0002148_abnormal_hypersensitivity_rea1.08030083
91MP0000631_abnormal_neuroendocrine_gland1.05430256
92MP0001663_abnormal_digestive_system1.05338999
93MP0006072_abnormal_retinal_apoptosis1.03447913
94MP0000751_myopathy1.03186688
95MP0002752_abnormal_somatic_nervous1.01986751
96MP0001502_abnormal_circadian_rhythm1.00169633
97MP0003718_maternal_effect0.98505598
98MP0005646_abnormal_pituitary_gland0.96078687
99MP0008877_abnormal_DNA_methylation0.95846513
100MP0008004_abnormal_stomach_pH0.95818837
101MP0004811_abnormal_neuron_physiology0.94709252
102MP0003121_genomic_imprinting0.94542604
103MP0002876_abnormal_thyroid_physiology0.93873600
104MP0003315_abnormal_perineum_morphology0.93006739
105MP0003436_decreased_susceptibility_to0.92618435
106MP0004808_abnormal_hematopoietic_stem0.92348279
107MP0009764_decreased_sensitivity_to0.90744548
108MP0002152_abnormal_brain_morphology0.90508138
109MP0002722_abnormal_immune_system0.88599899
110MP0005499_abnormal_olfactory_system0.88476946
111MP0005394_taste/olfaction_phenotype0.88476946
112MP0003075_altered_response_to0.85917233
113MP0000372_irregular_coat_pigmentation0.85633561
114MP0002277_abnormal_respiratory_mucosa0.85435825
115MP0003787_abnormal_imprinting0.85207523
116MP0004381_abnormal_hair_follicle0.84567425
117MP0001986_abnormal_taste_sensitivity0.83444855
118MP0008872_abnormal_physiological_respon0.83033338
119MP0002796_impaired_skin_barrier0.81716233
120MP0009765_abnormal_xenobiotic_induced0.81651872
121MP0000462_abnormal_digestive_system0.81528673
122MP0006035_abnormal_mitochondrial_morpho0.81451286
123MP0000538_abnormal_urinary_bladder0.79973406
124MP0008775_abnormal_heart_ventricle0.79619641
125* MP0002429_abnormal_blood_cell0.79262777
126MP0002751_abnormal_autonomic_nervous0.76134007
127MP0002909_abnormal_adrenal_gland0.75821644
128* MP0009642_abnormal_blood_homeostasis0.74919537
129MP0002069_abnormal_eating/drinking_beha0.74458974
130MP0002229_neurodegeneration0.73429976
131MP0005025_abnormal_response_to0.71002478
132MP0002723_abnormal_immune_serum0.70030941
133MP0008874_decreased_physiological_sensi0.69681602
134MP0009780_abnormal_chondrocyte_physiolo0.68549144
135MP0005381_digestive/alimentary_phenotyp0.68364615
136MP0005075_abnormal_melanosome_morpholog0.67772575
137MP0005171_absent_coat_pigmentation0.67738490
138MP0009250_abnormal_appendicular_skeleto0.67730549
139MP0002420_abnormal_adaptive_immunity0.67103868
140MP0000049_abnormal_middle_ear0.66931924
141MP0003137_abnormal_impulse_conducting0.66413894
142MP0004885_abnormal_endolymph0.66109661
143MP0000716_abnormal_immune_system0.65864786
144MP0001819_abnormal_immune_cell0.64641658
145MP0004085_abnormal_heartbeat0.64629059
146MP0008789_abnormal_olfactory_epithelium0.64359547
147MP0000343_altered_response_to0.63285193
148MP0005000_abnormal_immune_tolerance0.62409202
149MP0001533_abnormal_skeleton_physiology0.62370312
150MP0001765_abnormal_ion_homeostasis0.61757266
151MP0008058_abnormal_DNA_repair0.61099034
152MP0002419_abnormal_innate_immunity0.59916677
153MP0004858_abnormal_nervous_system0.59795522
154MP0001800_abnormal_humoral_immune0.59628989
155MP0008770_decreased_survivor_rate0.59465301
156MP0002452_abnormal_antigen_presenting0.58515773
157MP0004510_myositis0.57763265
158MP0004484_altered_response_of0.57476167
159MP0003633_abnormal_nervous_system0.57424875
160MP0005595_abnormal_vascular_smooth0.56261568
161MP0003861_abnormal_nervous_system0.55871328
162MP0001943_abnormal_respiration0.54724515
163MP0000566_synostosis0.54581165

Predicted human phenotypes

RankGene SetZ-score
1* Increased mean platelet volume (HP:0011877)7.49459636
2* Purpura (HP:0000979)7.36159996
3* Abnormal platelet volume (HP:0011876)7.19796385
4* Menorrhagia (HP:0000132)6.95513285
5Focal motor seizures (HP:0011153)6.94775134
6* Epistaxis (HP:0000421)6.30337446
7Gingival bleeding (HP:0000225)6.09428683
8Abnormality of the heme biosynthetic pathway (HP:0010472)5.76401187
9Abnormal platelet function (HP:0011869)5.32445330
10Impaired platelet aggregation (HP:0003540)5.32445330
11Focal seizures (HP:0007359)4.76705940
12Atonic seizures (HP:0010819)4.52279713
13Myokymia (HP:0002411)4.40313486
14Epileptic encephalopathy (HP:0200134)4.37014956
15Acute necrotizing encephalopathy (HP:0006965)4.07894172
16Febrile seizures (HP:0002373)3.98150557
17Progressive macrocephaly (HP:0004481)3.74962006
18Aplastic anemia (HP:0001915)3.72461070
19Absence seizures (HP:0002121)3.71768441
20Mitochondrial inheritance (HP:0001427)3.63385048
21Hyperventilation (HP:0002883)3.51042412
22Amblyopia (HP:0000646)3.49715612
23Dialeptic seizures (HP:0011146)3.45087469
24Abnormal mitochondria in muscle tissue (HP:0008316)3.39076479
25Increased hepatocellular lipid droplets (HP:0006565)3.36912305
26Broad-based gait (HP:0002136)3.34549241
27Stomatitis (HP:0010280)3.30084900
28Visual hallucinations (HP:0002367)3.28015434
29Acanthocytosis (HP:0001927)3.25018205
30Progressive cerebellar ataxia (HP:0002073)3.18820801
31Generalized tonic-clonic seizures (HP:0002069)3.07435596
32Acute encephalopathy (HP:0006846)3.06817608
33Increased muscle lipid content (HP:0009058)3.03087291
34Bruising susceptibility (HP:0000978)2.88608219
35Renal Fanconi syndrome (HP:0001994)2.86148825
36Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.85717214
37Optic disc pallor (HP:0000543)2.85089854
38Increased CSF lactate (HP:0002490)2.81703557
39Absent/shortened dynein arms (HP:0200106)2.81157592
40Dynein arm defect of respiratory motile cilia (HP:0012255)2.81157592
41Abnormal ciliary motility (HP:0012262)2.79938205
42Poikilocytosis (HP:0004447)2.76346633
43Abnormality of iron homeostasis (HP:0011031)2.70207784
44Lipid accumulation in hepatocytes (HP:0006561)2.67574759
45Concave nail (HP:0001598)2.67532141
46Absent speech (HP:0001344)2.60097080
47Polyphagia (HP:0002591)2.59795420
48Elevated erythrocyte sedimentation rate (HP:0003565)2.52521245
49Abnormal respiratory motile cilium physiology (HP:0012261)2.50854964
50Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.50232527
51Sensory axonal neuropathy (HP:0003390)2.49354484
52Parakeratosis (HP:0001036)2.49306803
53Abnormality of transition element cation homeostasis (HP:0011030)2.48317288
54Abnormal respiratory motile cilium morphology (HP:0005938)2.47832294
55Abnormal respiratory epithelium morphology (HP:0012253)2.47832294
56Hyperglycinemia (HP:0002154)2.47138018
57Hepatocellular necrosis (HP:0001404)2.44013668
58Tinnitus (HP:0000360)2.43267586
59Retinal dysplasia (HP:0007973)2.42828944
60Absent rod-and cone-mediated responses on ERG (HP:0007688)2.41317166
61Exotropia (HP:0000577)2.38368567
62Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.37208391
63Limb dystonia (HP:0002451)2.36056991
64Cerebral palsy (HP:0100021)2.35637415
65Neurofibrillary tangles (HP:0002185)2.35277866
66Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.34605645
67Excessive salivation (HP:0003781)2.30123177
68Drooling (HP:0002307)2.30123177
69Inability to walk (HP:0002540)2.26109440
70Esotropia (HP:0000565)2.23460015
71Abnormal eating behavior (HP:0100738)2.22928986
72Short middle phalanx of the 5th finger (HP:0004220)2.18037107
73Hyperlipoproteinemia (HP:0010980)2.17970697
74Gaze-evoked nystagmus (HP:0000640)2.16444248
75Poor eye contact (HP:0000817)2.16252748
76Dysdiadochokinesis (HP:0002075)2.16086242
77Cerebral inclusion bodies (HP:0100314)2.14622716
78Vertigo (HP:0002321)2.14263480
79Leukocytosis (HP:0001974)2.13801287
80Panhypogammaglobulinemia (HP:0003139)2.13701024
81Abnormality of the middle phalanx of the 5th finger (HP:0004219)2.10807028
82Protruding tongue (HP:0010808)2.08782364
83Polycythemia (HP:0001901)2.08525890
84Increased serum ferritin (HP:0003281)2.07985319
85Abnormality of lateral ventricle (HP:0030047)2.07313273
86Medial flaring of the eyebrow (HP:0010747)2.05192161
87Anxiety (HP:0000739)2.04847661
88X-linked dominant inheritance (HP:0001423)2.03900316
89Hemiparesis (HP:0001269)2.03843140
90Abnormality of salivation (HP:0100755)2.03472062
91Congenital sensorineural hearing impairment (HP:0008527)2.03041285
92Abnormality of renal resorption (HP:0011038)2.02595533
93Progressive inability to walk (HP:0002505)2.02230241
94Gait imbalance (HP:0002141)2.01354529
95Spontaneous abortion (HP:0005268)2.01340990
96Abnormal rod and cone electroretinograms (HP:0008323)2.01198908
97Episodic fever (HP:0001954)2.00928297
98Dysmetria (HP:0001310)2.00637611
99Sleep apnea (HP:0010535)2.00327329
100Petechiae (HP:0000967)11.8556143
101* Prolonged bleeding time (HP:0003010)10.4062804
102Poor suck (HP:0002033)1.97928024
103Increased intramyocellular lipid droplets (HP:0012240)1.96692518
104Obstructive sleep apnea (HP:0002870)1.95757246
105Hyperphosphaturia (HP:0003109)1.94644819
106Thrombocytosis (HP:0001894)1.93426537
107Abnormality of the phalanges of the 5th finger (HP:0004213)1.91961882
108Hepatosplenomegaly (HP:0001433)1.91804816
109Muscle hypertrophy of the lower extremities (HP:0008968)1.91552582
110Epileptiform EEG discharges (HP:0011182)1.91000637
111Ventricular fibrillation (HP:0001663)1.90363582
112Megalencephaly (HP:0001355)1.89269089
113Abnormality of binocular vision (HP:0011514)1.88815118
114Diplopia (HP:0000651)1.88815118
115Pallor (HP:0000980)1.88728953
116Hypothermia (HP:0002045)1.87543586
117Abnormal number of erythroid precursors (HP:0012131)1.87104387
118Agitation (HP:0000713)1.86727619
119Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.86126621
120Myositis (HP:0100614)1.85796789
121Popliteal pterygium (HP:0009756)1.84833677
122Supranuclear gaze palsy (HP:0000605)1.83891577
123Exertional dyspnea (HP:0002875)1.82735630
124Amniotic constriction ring (HP:0009775)1.81550064
125Abnormality of placental membranes (HP:0011409)1.81550064
126Respiratory failure (HP:0002878)1.80166407
127Thickened helices (HP:0000391)1.78419593
128Hypoventilation (HP:0002791)1.78194322
129Genital tract atresia (HP:0001827)1.77974919
130Severe visual impairment (HP:0001141)1.77387021
131Generalized myoclonic seizures (HP:0002123)1.76251663
132Hepatic necrosis (HP:0002605)1.76078056
133Areflexia of lower limbs (HP:0002522)1.76047480
134Cerebral hypomyelination (HP:0006808)1.75554457
135Scanning speech (HP:0002168)1.74959972
136Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.74407291
137Status epilepticus (HP:0002133)1.74177336
138Abnormal social behavior (HP:0012433)1.73346715
139Impaired social interactions (HP:0000735)1.73346715
140EEG with generalized epileptiform discharges (HP:0011198)1.73212869
141Abnormality of the axillary hair (HP:0100134)1.72654818
142Abnormality of secondary sexual hair (HP:0009888)1.72654818
143Recurrent fungal infections (HP:0002841)1.72320249
144Vaginal atresia (HP:0000148)1.72189958
145Exercise intolerance (HP:0003546)1.71925718
146Congenital primary aphakia (HP:0007707)1.71539572
147Abnormal hair whorl (HP:0010721)1.71387790
148Abnormal hemoglobin (HP:0011902)1.71351026
149Abnormal pupillary function (HP:0007686)1.69013964
150Spastic paraparesis (HP:0002313)1.68782838
151Increased IgM level (HP:0003496)1.67107364
152Upper limb muscle weakness (HP:0003484)1.66541967
153Split foot (HP:0001839)1.65829926
154Respiratory difficulties (HP:0002880)1.63820021
155Pancytopenia (HP:0001876)1.63338447
156* Obstructive lung disease (HP:0006536)1.62349200
157* Chronic obstructive pulmonary disease (HP:0006510)1.62349200
158Failure to thrive in infancy (HP:0001531)1.60925519
159Abnormality of cells of the erythroid lineage (HP:0012130)1.59863705
160Opisthotonus (HP:0002179)1.59838415
161Dicarboxylic aciduria (HP:0003215)1.58724055
162Abnormality of dicarboxylic acid metabolism (HP:0010995)1.58724055
163Spontaneous hematomas (HP:0007420)1.57806073
164Cerebral edema (HP:0002181)1.57417118
165Chronic otitis media (HP:0000389)1.57315799
166Reticulocytosis (HP:0001923)1.55330163
167Generalized aminoaciduria (HP:0002909)1.53544036
168Lactic acidosis (HP:0003128)1.53071311
169Amaurosis fugax (HP:0100576)1.52711270
170Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.50610430
171Decreased activity of mitochondrial respiratory chain (HP:0008972)1.50610430
172Cellulitis (HP:0100658)1.48906176
173Arterial thrombosis (HP:0004420)1.48458369
174Decreased central vision (HP:0007663)1.43532377

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.50210838
2BCKDK3.90962181
3NTRK33.51359914
4EPHA43.45469492
5KDR3.20686074
6RIPK43.09608655
7MAP3K122.93172243
8TAOK32.70428142
9MAP2K72.69856579
10TLK12.62150018
11PNCK2.48314906
12PIM22.47115147
13TNIK2.33401190
14MAP3K42.33344698
15NME12.32344856
16FES2.28905786
17MAP4K12.23255547
18MAP3K92.21036776
19BMX2.19164337
20JAK32.15573368
21MINK11.96787574
22TESK21.96562107
23MARK11.94675455
24EIF2AK11.91661634
25GRK51.90020838
26TEC1.88015751
27SYK1.85340059
28VRK21.81462841
29ARAF1.81411698
30BTK1.77800405
31GRK61.77583107
32SIK21.76185963
33DAPK21.68414188
34BMPR21.67412821
35NTRK21.65182940
36NTRK11.63391356
37NUAK11.63290824
38MAP2K41.61839234
39PINK11.60737700
40DYRK1B1.57606117
41MAPK131.48623177
42MAP2K31.47377120
43ABL21.39598704
44TAOK21.36758615
45PLK21.34650127
46STK391.29628031
47SCYL21.23564303
48FER1.18958620
49PRKD21.18645882
50CAMK2A1.17877786
51CDK51.16234282
52TXK1.16100882
53NME21.15318093
54CDK191.14476629
55TBK11.13652063
56UHMK11.11302151
57STK161.09813831
58CAMK2B1.08969340
59MKNK21.08253419
60OXSR11.07353942
61GRK71.06043242
62KIT1.05041731
63BRAF1.03556167
64FGR1.02799969
65PAK60.99965904
66MAPK120.99811175
67BMPR1B0.98758015
68PTK2B0.97226859
69PRKCG0.96697799
70TAOK10.94287117
71KSR10.94039032
72MAP3K20.92795739
73BLK0.91803981
74DAPK10.88824581
75IKBKB0.88605895
76DYRK1A0.88318521
77PRKCQ0.87915970
78ADRBK10.86977485
79CAMK2D0.86897571
80ERN10.86895792
81MAP3K130.85908010
82PRPF4B0.83614784
83EPHB20.82756147
84KSR20.81410330
85WNK40.80556307
86PIM10.79425818
87PRKCE0.79083665
88MUSK0.78672536
89PRKCD0.77614304
90MATK0.77260022
91ADRBK20.74650199
92HCK0.71624589
93LCK0.68762177
94BCR0.67102858
95LYN0.66951253
96CDK140.64968883
97ROCK20.60303612
98PBK0.58799200
99MAP4K20.58526604
100PKN10.57036165
101JAK20.56578748
102CDK180.55606306
103MST1R0.55322112
104MAPKAPK50.54753673
105CAMKK10.53915967
106ZAP700.53865393
107CAMK10.53665633
108DAPK30.53215792
109WNK30.53169045
110TYRO30.53070378
111CDK150.52903641
112ITK0.52821050
113AKT30.52181386
114MST40.51880468
115FYN0.51689295
116ILK0.50539370
117PRKG20.50436947
118PAK10.49681879
119CDK11A0.48631784
120LMTK20.48405942
121TNK20.48299376
122VRK10.48063506
123MAP3K110.47981671
124MAP2K10.47430283
125DYRK20.47353345
126DYRK30.47230744
127STK110.47169563
128* PRKACA0.46854645
129RAF10.46726435
130CSNK1G20.46481307
131DMPK0.46467763
132CAMK2G0.45569130
133IRAK20.45063994
134PAK30.44928548
135CAMKK20.43853999
136RPS6KA50.43688014
137MAP3K10.43393850
138IRAK10.43244468
139MAPK30.42166670
140PRKD10.42064989
141CDK30.41254923
142CSNK1G30.40882278
143SGK10.40691213
144PRKCZ0.39661859
145MARK20.37976257
146CDK80.37903658
147CCNB10.37515722
148GRK10.37149488
149LATS20.37104751
150PRKG10.36853241
151PIK3CA0.35974428
152MAPK150.35769670
153MYLK0.34964602
154PRKCA0.34473099
155CSNK1A10.33657276
156PRKCB0.30965101
157MAP2K20.29591309
158MAP2K60.27877590

Predicted pathways (KEGG)

RankGene SetZ-score
1* Platelet activation_Homo sapiens_hsa046114.74013637
2Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007604.25151876
3Nicotine addiction_Homo sapiens_hsa050334.00561064
4Oxidative phosphorylation_Homo sapiens_hsa001903.59064347
5Parkinsons disease_Homo sapiens_hsa050122.78624105
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.77789743
7Alzheimers disease_Homo sapiens_hsa050102.73763087
8Glutamatergic synapse_Homo sapiens_hsa047242.42785936
9Long-term potentiation_Homo sapiens_hsa047202.40682951
10Synaptic vesicle cycle_Homo sapiens_hsa047212.38039086
11Taste transduction_Homo sapiens_hsa047422.35007163
12Morphine addiction_Homo sapiens_hsa050322.26402398
13GABAergic synapse_Homo sapiens_hsa047272.26004166
14SNARE interactions in vesicular transport_Homo sapiens_hsa041302.25765312
15Serotonergic synapse_Homo sapiens_hsa047262.24242509
16Amphetamine addiction_Homo sapiens_hsa050312.22340612
17Circadian entrainment_Homo sapiens_hsa047132.17981900
18Cardiac muscle contraction_Homo sapiens_hsa042602.17766156
19* Hematopoietic cell lineage_Homo sapiens_hsa046402.13116171
20Long-term depression_Homo sapiens_hsa047302.11772012
21Huntingtons disease_Homo sapiens_hsa050162.05233839
22Salivary secretion_Homo sapiens_hsa049702.04189825
23Collecting duct acid secretion_Homo sapiens_hsa049661.93399228
24Dopaminergic synapse_Homo sapiens_hsa047281.91999232
25Olfactory transduction_Homo sapiens_hsa047401.84807165
26Renin secretion_Homo sapiens_hsa049241.80822915
27Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.63393719
28Cholinergic synapse_Homo sapiens_hsa047251.62734921
29Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.58982766
30Phototransduction_Homo sapiens_hsa047441.56586674
31Ribosome_Homo sapiens_hsa030101.55668945
32Insulin secretion_Homo sapiens_hsa049111.54653474
33Cocaine addiction_Homo sapiens_hsa050301.51519199
34Gastric acid secretion_Homo sapiens_hsa049711.49677596
35Calcium signaling pathway_Homo sapiens_hsa040201.49134806
36Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.46825215
37Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.44915312
38Oxytocin signaling pathway_Homo sapiens_hsa049211.44511497
39Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.41645909
40Axon guidance_Homo sapiens_hsa043601.41156747
41GnRH signaling pathway_Homo sapiens_hsa049121.38556539
42Gap junction_Homo sapiens_hsa045401.33517821
43Propanoate metabolism_Homo sapiens_hsa006401.33389046
44Aldosterone synthesis and secretion_Homo sapiens_hsa049251.28694247
45Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.27363684
46Regulation of autophagy_Homo sapiens_hsa041401.25721211
47Vibrio cholerae infection_Homo sapiens_hsa051101.22926534
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.21708467
49Base excision repair_Homo sapiens_hsa034101.20504829
50Fatty acid elongation_Homo sapiens_hsa000621.19048127
51Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.15159328
52Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.14184398
53Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.12195366
54Peroxisome_Homo sapiens_hsa041461.10679883
55Melanogenesis_Homo sapiens_hsa049161.08897287
56Pyrimidine metabolism_Homo sapiens_hsa002401.07885815
57Glycerophospholipid metabolism_Homo sapiens_hsa005641.05832252
58Purine metabolism_Homo sapiens_hsa002301.02965466
59Primary immunodeficiency_Homo sapiens_hsa053400.99812618
60Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.98409734
61Nitrogen metabolism_Homo sapiens_hsa009100.98070023
62Transcriptional misregulation in cancer_Homo sapiens_hsa052020.97993349
63cAMP signaling pathway_Homo sapiens_hsa040240.94870892
64Pancreatic secretion_Homo sapiens_hsa049720.94562090
65Estrogen signaling pathway_Homo sapiens_hsa049150.91972771
66alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.91381482
67Vascular smooth muscle contraction_Homo sapiens_hsa042700.91374657
68Asthma_Homo sapiens_hsa053100.88098224
69Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.84942225
70Glycerolipid metabolism_Homo sapiens_hsa005610.84023778
71Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.83669966
72Mismatch repair_Homo sapiens_hsa034300.82972894
73Pentose phosphate pathway_Homo sapiens_hsa000300.82465889
74Steroid hormone biosynthesis_Homo sapiens_hsa001400.81697050
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.81669569
76Endocytosis_Homo sapiens_hsa041440.80613421
77Glutathione metabolism_Homo sapiens_hsa004800.78782676
78cGMP-PKG signaling pathway_Homo sapiens_hsa040220.78381339
79Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.76584773
80ErbB signaling pathway_Homo sapiens_hsa040120.75039642
81Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.75010321
82Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72941837
83Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.72323958
84* ECM-receptor interaction_Homo sapiens_hsa045120.72186854
85Sulfur relay system_Homo sapiens_hsa041220.69953991
86Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.69867192
87Phosphatidylinositol signaling system_Homo sapiens_hsa040700.68425010
88Choline metabolism in cancer_Homo sapiens_hsa052310.66200961
89Chemokine signaling pathway_Homo sapiens_hsa040620.65303529
90African trypanosomiasis_Homo sapiens_hsa051430.65098098
91Glioma_Homo sapiens_hsa052140.64036599
92Dorso-ventral axis formation_Homo sapiens_hsa043200.63889501
93Sphingolipid metabolism_Homo sapiens_hsa006000.62506627
94Salmonella infection_Homo sapiens_hsa051320.61121803
95Phospholipase D signaling pathway_Homo sapiens_hsa040720.58083079
96Ras signaling pathway_Homo sapiens_hsa040140.57874395
97Malaria_Homo sapiens_hsa051440.57849667
98Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.57784148
99Alcoholism_Homo sapiens_hsa050340.55767354
100Ether lipid metabolism_Homo sapiens_hsa005650.55434011
101VEGF signaling pathway_Homo sapiens_hsa043700.52630164
102Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.51852055
103Wnt signaling pathway_Homo sapiens_hsa043100.51451208
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.51078772
105Leishmaniasis_Homo sapiens_hsa051400.50960926
106Metabolic pathways_Homo sapiens_hsa011000.50544230
107Sphingolipid signaling pathway_Homo sapiens_hsa040710.49443183
108Oocyte meiosis_Homo sapiens_hsa041140.49325282
109Thyroid hormone synthesis_Homo sapiens_hsa049180.48911339
110Protein export_Homo sapiens_hsa030600.48228062
111MAPK signaling pathway_Homo sapiens_hsa040100.47047754
112Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.44682451
113Acute myeloid leukemia_Homo sapiens_hsa052210.44612176
114Rheumatoid arthritis_Homo sapiens_hsa053230.42681961
115Dilated cardiomyopathy_Homo sapiens_hsa054140.40423355
116Mineral absorption_Homo sapiens_hsa049780.40155710
117Type II diabetes mellitus_Homo sapiens_hsa049300.40010920
118Homologous recombination_Homo sapiens_hsa034400.39692883
119Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.39064171
120RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.38975680
121Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.37782475
122Tyrosine metabolism_Homo sapiens_hsa003500.36635186
123Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.35721373
124Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.35659112
125Jak-STAT signaling pathway_Homo sapiens_hsa046300.35360558
126Melanoma_Homo sapiens_hsa052180.33850561
127Rap1 signaling pathway_Homo sapiens_hsa040150.32846463
128Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31216376
129Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.30225956
130Ovarian steroidogenesis_Homo sapiens_hsa049130.27826560
131Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.25947561
132Renal cell carcinoma_Homo sapiens_hsa052110.25587927
133Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.23789265
134Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.21592135
135Hedgehog signaling pathway_Homo sapiens_hsa043400.20052477
136Carbohydrate digestion and absorption_Homo sapiens_hsa049730.19032197
137Linoleic acid metabolism_Homo sapiens_hsa005910.18325039
138Arachidonic acid metabolism_Homo sapiens_hsa005900.18308077
139Prion diseases_Homo sapiens_hsa050200.15815827
140Sulfur metabolism_Homo sapiens_hsa009200.14545614
141Inositol phosphate metabolism_Homo sapiens_hsa005620.13592858
142Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.12914817
143Glucagon signaling pathway_Homo sapiens_hsa049220.12162351

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »