POU5F1P5

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of transcription regulatory region DNA binding (GO:2000678)8.88208498
2erythrocyte development (GO:0048821)8.74828196
3adenine nucleotide transport (GO:0051503)8.72318058
4purine ribonucleotide transport (GO:0015868)8.71841164
5response to thyroid hormone (GO:0097066)8.14733810
6positive regulation of mitochondrial calcium ion concentration (GO:0051561)8.11537201
7negative regulation of bone mineralization (GO:0030502)8.05722670
8mitochondrial calcium ion transport (GO:0006851)7.57979772
9platelet formation (GO:0030220)7.16946084
10negative regulation of biomineral tissue development (GO:0070168)7.15717993
11purine nucleotide transport (GO:0015865)6.80989763
12positive regulation of erythrocyte differentiation (GO:0045648)6.70649239
13positive regulation of insulin receptor signaling pathway (GO:0046628)6.67281575
14regulation of osteoblast proliferation (GO:0033688)6.53889003
15negative regulation of gluconeogenesis (GO:0045721)6.49174089
16embryonic hemopoiesis (GO:0035162)6.17844251
17respiratory chain complex IV assembly (GO:0008535)6.08817879
18negative regulation of JAK-STAT cascade (GO:0046426)5.89421880
19negative regulation of mast cell activation (GO:0033004)5.83981646
20negative regulation of anoikis (GO:2000811)5.56999918
21oxidative phosphorylation (GO:0006119)5.36838354
22regulation of transcription regulatory region DNA binding (GO:2000677)5.30986750
23regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)5.30333331
24negative regulation of protein localization to cell surface (GO:2000009)5.17427477
25regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.10176250
26cytochrome complex assembly (GO:0017004)5.02798405
27nucleoside transport (GO:0015858)4.84956195
28positive regulation of cellular response to insulin stimulus (GO:1900078)4.80569923
29protein targeting to lysosome (GO:0006622)4.80496701
30establishment of protein localization to vacuole (GO:0072666)4.80496701
31protein targeting to vacuole (GO:0006623)4.80496701
32regulation of acyl-CoA biosynthetic process (GO:0050812)4.76774330
33urinary tract smooth muscle contraction (GO:0014848)4.64919753
34mitochondrial calcium ion homeostasis (GO:0051560)4.63911362
35positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003574.61492047
36regulation of anoikis (GO:2000209)4.44820760
37rRNA modification (GO:0000154)4.35798073
38myeloid cell development (GO:0061515)4.35563624
39mitochondrial respiratory chain complex I assembly (GO:0032981)4.33453138
40NADH dehydrogenase complex assembly (GO:0010257)4.33453138
41mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.33453138
42monoubiquitinated protein deubiquitination (GO:0035520)4.32241727
43regulation of glycoprotein biosynthetic process (GO:0010559)4.28919692
44dendritic cell differentiation (GO:0097028)4.25832446
45positive regulation of cell cycle checkpoint (GO:1901978)4.17543350
46regulation of cofactor metabolic process (GO:0051193)4.16034775
47regulation of coenzyme metabolic process (GO:0051196)4.16034775
48negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)3.99532185
49negative regulation of signal transduction in absence of ligand (GO:1901099)3.99532185
50centriole replication (GO:0007099)3.91701561
51regulation of sulfur metabolic process (GO:0042762)3.88047495
52activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO3.83540214
53regulation of erythrocyte differentiation (GO:0045646)3.82988670
54intestinal absorption (GO:0050892)3.59886342
55centrosome duplication (GO:0051298)3.49154932
56regulation of glycoprotein metabolic process (GO:1903018)3.45109204
57aerobic respiration (GO:0009060)3.44016987
58mitotic cell cycle arrest (GO:0071850)3.41304090
59nucleotide transport (GO:0006862)3.34801103
60negative regulation of receptor-mediated endocytosis (GO:0048261)3.28870966
61sleep (GO:0030431)3.27585631
62tonic smooth muscle contraction (GO:0014820)3.26638254
63regulation of cardioblast proliferation (GO:0003264)3.26426876
64regulation of secondary heart field cardioblast proliferation (GO:0003266)3.26426876
65protein localization to lysosome (GO:0061462)3.25824609
66protein localization to vacuole (GO:0072665)3.25824609
67negative regulation of DNA binding (GO:0043392)3.22642421
68negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.20884946
69single strand break repair (GO:0000012)3.15785156
70histone H4-K16 acetylation (GO:0043984)3.15017871
71regulation of DNA methylation (GO:0044030)3.14908036
72platelet aggregation (GO:0070527)3.14616270
73sulfate transmembrane transport (GO:1902358)3.08179740
74negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)3.06226159
75histone H4-K5 acetylation (GO:0043981)3.03687872
76histone H4-K8 acetylation (GO:0043982)3.03687872
77protein complex biogenesis (GO:0070271)3.02217025
78artery smooth muscle contraction (GO:0014824)3.01726483
79muscle organ morphogenesis (GO:0048644)3.00334413
80negative regulation of translational initiation (GO:0045947)2.98769073
81detection of temperature stimulus involved in sensory perception (GO:0050961)2.93976358
82detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.93976358
83outer ear morphogenesis (GO:0042473)2.91698718
84RNA localization (GO:0006403)2.88383287
85regulation of phospholipid biosynthetic process (GO:0071071)2.85218573
86snRNA transcription (GO:0009301)2.84947495
87mitotic sister chromatid cohesion (GO:0007064)2.84836044
88mitochondrial respiratory chain complex assembly (GO:0033108)2.81216260
89negative regulation of DNA replication (GO:0008156)2.77872597
90ribosome biogenesis (GO:0042254)2.73604833
91erythrocyte differentiation (GO:0030218)2.73323953
92DNA strand renaturation (GO:0000733)2.68259200
93sulfate transport (GO:0008272)2.67486327
94coronary vasculature morphogenesis (GO:0060977)2.67082909
95centriole assembly (GO:0098534)2.65564374
96positive regulation of osteoblast proliferation (GO:0033690)15.3648900
97cellular response to thyroid hormone stimulus (GO:0097067)11.4196031
98granulocyte differentiation (GO:0030851)10.4864055
99nuclear envelope reassembly (GO:0031468)10.2409632
100mitotic nuclear envelope reassembly (GO:0007084)10.2409632

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human8.56185248
2ESR1_15608294_ChIP-ChIP_MCF-7_Human5.65424878
3STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse5.13154463
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.79545232
5NOTCH1_21737748_ChIP-Seq_TLL_Human3.04200788
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.74699446
7GABP_17652178_ChIP-ChIP_JURKAT_Human2.62666314
8RBPJ_22232070_ChIP-Seq_NCS_Mouse2.36057765
9E2F7_22180533_ChIP-Seq_HELA_Human2.27055189
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.23400839
11GATA1_19941826_ChIP-Seq_K562_Human2.08693822
12TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.06945333
13HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.00448464
14PKCTHETA_26484144_Chip-Seq_BREAST_Human1.97881316
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.87637587
16CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.81502149
17CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.78351970
18TDRD3_21172665_ChIP-Seq_MCF-7_Human1.77703020
19IRF1_19129219_ChIP-ChIP_H3396_Human1.71326414
20STAT6_21828071_ChIP-Seq_BEAS2B_Human1.59934557
21FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.57574579
22EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.51032043
23CBX2_27304074_Chip-Seq_ESCs_Mouse1.47367378
24MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.46050777
25EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.45422027
26CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.41547425
27BRD4_25478319_ChIP-Seq_HGPS_Human1.33338749
28SPI1_23127762_ChIP-Seq_K562_Human1.32933206
29ELF5_23300383_ChIP-Seq_T47D_Human1.32082218
30AR_25329375_ChIP-Seq_VCAP_Human1.29948110
31EWS_26573619_Chip-Seq_HEK293_Human1.28051113
32TP63_19390658_ChIP-ChIP_HaCaT_Human1.27571984
33SPI1_23547873_ChIP-Seq_NB4_Human1.27532496
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.25356896
35P68_20966046_ChIP-Seq_HELA_Human1.23316287
36GATA2_19941826_ChIP-Seq_K562_Human1.21518840
37NR3C1_23031785_ChIP-Seq_PC12_Mouse1.21383134
38SRF_21415370_ChIP-Seq_HL-1_Mouse1.19124660
39GABP_19822575_ChIP-Seq_HepG2_Human1.17604517
40E2F1_21310950_ChIP-Seq_MCF-7_Human1.15669543
41FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.15477690
42HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.14727973
43PRDM14_20953172_ChIP-Seq_ESCs_Human1.12463337
44NCOR1_26117541_ChIP-Seq_K562_Human1.12385436
45NANOG_18555785_ChIP-Seq_MESCs_Mouse1.11639476
46EOMES_21245162_ChIP-Seq_HESCs_Human1.10764826
47POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.09404042
48TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09404042
49CJUN_26792858_Chip-Seq_BT549_Human1.08122049
50PADI4_21655091_ChIP-ChIP_MCF-7_Human1.07970686
51ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.07906150
52FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.06412183
53VDR_24787735_ChIP-Seq_THP-1_Human1.04563793
54HNFA_21074721_ChIP-Seq_CACO-2_Human1.03153992
55FOXA1_25552417_ChIP-Seq_VCAP_Human1.01018220
56NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.00597054
57TP53_16413492_ChIP-PET_HCT116_Human1.00006151
58NFI_21473784_ChIP-Seq_ESCs_Mouse0.99514232
59KDM5A_27292631_Chip-Seq_BREAST_Human0.99331888
60P300_19829295_ChIP-Seq_ESCs_Human0.98743913
61FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.98117501
62PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.98094569
63CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.97602262
64TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.97200426
65FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.95805264
66EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.94955097
67EP300_21415370_ChIP-Seq_HL-1_Mouse0.94826125
68SALL4_18804426_ChIP-ChIP_XEN_Mouse0.94259549
69CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.94000424
70MAF_26560356_Chip-Seq_TH2_Human0.93628590
71PIAS1_25552417_ChIP-Seq_VCAP_Human0.93133837
72ELK1_19687146_ChIP-ChIP_HELA_Human0.91963106
73ER_23166858_ChIP-Seq_MCF-7_Human0.91660733
74MYB_21317192_ChIP-Seq_ERMYB_Mouse0.91072526
75NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.89606733
76PPAR_26484153_Chip-Seq_NCI-H1993_Human0.87729384
77FOXH1_21741376_ChIP-Seq_ESCs_Human0.87110202
78P53_21459846_ChIP-Seq_SAOS-2_Human0.86122192
79GATA3_26560356_Chip-Seq_TH2_Human0.85438511
80GATA3_21878914_ChIP-Seq_MCF-7_Human0.85104192
81P300_27268052_Chip-Seq_Bcells_Human0.85042551
82GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.84934186
83SMAD4_21741376_ChIP-Seq_ESCs_Human0.83496542
84CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.83373898
85RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.82569844
86RUNX1_27457419_Chip-Seq_LIVER_Mouse0.82526805
87CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.82108885
88OCT4_20526341_ChIP-Seq_ESCs_Human0.82077150
89POU3F1_26484290_ChIP-Seq_ESCss_Mouse0.81961158
90KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.81649674
91SOX2_27498859_Chip-Seq_STOMACH_Mouse0.81359830
92ETV1_20927104_ChIP-Seq_GIST48_Human0.81345022
93BCOR_27268052_Chip-Seq_Bcells_Human0.81016619
94SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.80568465
95AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80255960
96FOXA1_21572438_ChIP-Seq_LNCaP_Human0.79716055
97FOXM1_26456572_ChIP-Seq_MCF-7_Human0.79381855
98SUZ12_18555785_Chip-Seq_ESCs_Mouse0.79335196
99FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.79214007
100FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.79099645

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001661_extended_life_span6.87841112
2MP0001545_abnormal_hematopoietic_system4.67604551
3MP0005397_hematopoietic_system_phenotyp4.67604551
4MP0005360_urolithiasis4.14366364
5MP0003950_abnormal_plasma_membrane3.74308160
6MP0005171_absent_coat_pigmentation3.43684972
7MP0008872_abnormal_physiological_respon3.15041726
8MP0010386_abnormal_urinary_bladder2.22312858
9MP0003300_gastrointestinal_ulcer2.17630689
10MP0003111_abnormal_nucleus_morphology2.13799011
11MP0003787_abnormal_imprinting2.06155923
12MP0002132_abnormal_respiratory_system11.3927413
13MP0006036_abnormal_mitochondrial_physio1.82419128
14MP0002736_abnormal_nociception_after1.80629263
15MP0008057_abnormal_DNA_replication1.80393345
16MP0004147_increased_porphyrin_level1.75155627
17MP0000372_irregular_coat_pigmentation1.72700216
18MP0008438_abnormal_cutaneous_collagen1.62594908
19MP0000747_muscle_weakness1.56354062
20MP0005636_abnormal_mineral_homeostasis1.43079356
21MP0003693_abnormal_embryo_hatching1.41237866
22MP0005503_abnormal_tendon_morphology1.33546439
23MP0004782_abnormal_surfactant_physiolog1.32652387
24MP0008961_abnormal_basal_metabolism1.29056395
25MP0004885_abnormal_endolymph1.26575248
26MP0003453_abnormal_keratinocyte_physiol1.25380857
27MP0002234_abnormal_pharynx_morphology1.17618221
28MP0005388_respiratory_system_phenotype1.17258272
29MP0002133_abnormal_respiratory_system1.17258272
30MP0001697_abnormal_embryo_size1.15764956
31MP0005584_abnormal_enzyme/coenzyme_acti1.15193737
32MP0010352_gastrointestinal_tract_polyps1.10690903
33MP0005501_abnormal_skin_physiology1.06978678
34MP0001764_abnormal_homeostasis1.06930692
35MP0005023_abnormal_wound_healing1.06512364
36MP0008770_decreased_survivor_rate1.05433425
37MP0010368_abnormal_lymphatic_system1.04352629
38MP0000569_abnormal_digit_pigmentation1.02651323
39MP0010094_abnormal_chromosome_stability0.95992999
40MP0000767_abnormal_smooth_muscle0.93991067
41MP0009672_abnormal_birth_weight0.90646167
42MP0006292_abnormal_olfactory_placode0.89179485
43MP0005174_abnormal_tail_pigmentation0.86907847
44MP0001968_abnormal_touch/_nociception0.86476847
45MP0001879_abnormal_lymphatic_vessel0.86383494
46MP0005275_abnormal_skin_tensile0.85057210
47MP0006138_congestive_heart_failure0.84043859
48MP0000538_abnormal_urinary_bladder0.81415908
49MP0000427_abnormal_hair_cycle0.77812869
50MP0003942_abnormal_urinary_system0.77181917
51MP0000313_abnormal_cell_death0.76711672
52MP0001243_abnormal_dermal_layer0.75834791
53MP0000678_abnormal_parathyroid_gland0.75358542
54MP0001853_heart_inflammation0.74798123
55MP0008875_abnormal_xenobiotic_pharmacok0.70761904
56MP0001542_abnormal_bone_strength0.69665886
57MP0004484_altered_response_of0.68993940
58MP0009115_abnormal_fat_cell0.66723699
59MP0002111_abnormal_tail_morphology0.64966206
60MP0003828_pulmonary_edema0.64677007
61MP0008874_decreased_physiological_sensi0.61648660
62MP0005083_abnormal_biliary_tract0.60183249
63MP0000003_abnormal_adipose_tissue0.60158326
64MP0004134_abnormal_chest_morphology0.59800514
65MP0004043_abnormal_pH_regulation0.59748114
66MP0000685_abnormal_immune_system0.57923043
67MP0009931_abnormal_skin_appearance0.56769013
68MP0003137_abnormal_impulse_conducting0.55875153
69MP0003718_maternal_effect0.54941273
70MP0004197_abnormal_fetal_growth/weight/0.54501886
71MP0002177_abnormal_outer_ear0.51237418
72MP0009703_decreased_birth_body0.50825392
73MP0000703_abnormal_thymus_morphology0.50113554
74MP0009333_abnormal_splenocyte_physiolog0.50096631
75MP0009697_abnormal_copulation0.48920847
76MP0000681_abnormal_thyroid_gland0.46022070
77MP0001849_ear_inflammation0.45659637
78MP0002722_abnormal_immune_system0.44639381
79MP0010630_abnormal_cardiac_muscle0.44388999
80MP0002160_abnormal_reproductive_system0.44304031
81MP0000015_abnormal_ear_pigmentation0.43883862
82MP0003795_abnormal_bone_structure0.43382024
83MP0010769_abnormal_survival0.42996113
84MP0002933_joint_inflammation0.42822520
85MP0003755_abnormal_palate_morphology0.42314954
86MP0010771_integument_phenotype0.41988066
87MP0003077_abnormal_cell_cycle0.41569135
88MP0002249_abnormal_larynx_morphology0.41026997
89MP0003385_abnormal_body_wall0.40846240
90MP0010768_mortality/aging0.40343521
91MP0008932_abnormal_embryonic_tissue0.39774740
92MP0003763_abnormal_thymus_physiology0.39007290
93MP0000049_abnormal_middle_ear0.38127492
94MP0005220_abnormal_exocrine_pancreas0.38097360
95MP0004811_abnormal_neuron_physiology0.36559646
96MP0005395_other_phenotype0.36382712
97MP0002114_abnormal_axial_skeleton0.35646041
98MP0004270_analgesia0.34527287
99MP0000266_abnormal_heart_morphology0.34399828
100MP0010770_preweaning_lethality0.33912157

Predicted human phenotypes

RankGene SetZ-score
1Acanthocytosis (HP:0001927)9.40066347
2Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)7.78494216
3Petechiae (HP:0000967)7.33709854
4Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)7.06496912
5Broad palm (HP:0001169)6.75046643
6Abnormality of the middle phalanx of the 5th finger (HP:0004219)6.62048161
7Short 5th finger (HP:0009237)6.38756336
8Abnormality of the phalanges of the 5th finger (HP:0004213)6.08653762
9Aplasia/Hypoplasia of the 5th finger (HP:0006262)5.91341981
10Protruding tongue (HP:0010808)5.77874919
11Hypoplastic iliac wings (HP:0002866)5.68832463
12Polycythemia (HP:0001901)5.43537913
13Complete atrioventricular canal defect (HP:0001674)5.13172071
14Brushfield spots (HP:0001088)4.95943269
15Poikilocytosis (HP:0004447)4.84148696
16Impaired platelet aggregation (HP:0003540)4.68265514
17Abnormal platelet function (HP:0011869)4.68265514
18Reticulocytosis (HP:0001923)4.63575775
19Abnormality of dental color (HP:0011073)4.53093147
20Abnormality of the heme biosynthetic pathway (HP:0010472)4.49944942
21Prolonged bleeding time (HP:0003010)4.03954355
22Atrioventricular canal defect (HP:0006695)3.92780879
23Short middle phalanx of finger (HP:0005819)3.89037956
24Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843)3.54205448
25Deep palmar crease (HP:0006191)3.49828173
26Hepatocellular necrosis (HP:0001404)3.45164685
27Abnormality of reticulocytes (HP:0004312)3.33823683
28Hypoplastic ilia (HP:0000946)3.22422660
29Hyperinsulinemic hypoglycemia (HP:0000825)3.16769530
30Abnormality of the wing of the ilium (HP:0011867)3.10566439
31Microtia (HP:0008551)3.06585567
32Facial hemangioma (HP:0000329)2.99221962
33Small intestinal stenosis (HP:0012848)2.99088466
34Duodenal stenosis (HP:0100867)2.99088466
35Abnormality of the middle phalanges of the hand (HP:0009833)2.91221020
36Testicular atrophy (HP:0000029)2.65116928
37Abnormality of the renal collecting system (HP:0004742)2.61157245
38Duplicated collecting system (HP:0000081)2.60926068
39Acute necrotizing encephalopathy (HP:0006965)2.57211059
40Hepatic necrosis (HP:0002605)2.57143055
41Abnormality of the acetabulum (HP:0003170)2.56220462
42Mitochondrial inheritance (HP:0001427)2.49271970
43Increased CSF lactate (HP:0002490)2.44166379
44Abnormality of the duodenum (HP:0002246)2.41925166
45Nonimmune hydrops fetalis (HP:0001790)2.38523328
46Type I transferrin isoform profile (HP:0003642)2.34786438
47Abnormality of alanine metabolism (HP:0010916)2.34695235
48Hyperalaninemia (HP:0003348)2.34695235
49Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.34695235
50Macroglossia (HP:0000158)2.31024963
51Anal atresia (HP:0002023)2.26270873
52Thickened nuchal skin fold (HP:0000474)2.26045682
53Progressive macrocephaly (HP:0004481)2.21887466
54Abnormal mitochondria in muscle tissue (HP:0008316)2.17669666
55Overlapping toe (HP:0001845)2.12833433
56Delayed puberty (HP:0000823)2.08932607
57Rectal prolapse (HP:0002035)2.05156434
58Ulnar deviation of the wrist (HP:0003049)2.04180951
59CNS demyelination (HP:0007305)2.03926557
60Short middle phalanx of the 5th finger (HP:0004220)12.5309253
61Acute encephalopathy (HP:0006846)1.99818986
62Microglossia (HP:0000171)1.98695458
63Abnormal protein glycosylation (HP:0012346)1.95399292
64Abnormal glycosylation (HP:0012345)1.95399292
65Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.95399292
66Abnormal protein N-linked glycosylation (HP:0012347)1.95399292
67Broad alveolar ridges (HP:0000187)1.95370854
68Chromosomal breakage induced by crosslinking agents (HP:0003221)1.86232307
69Cutaneous photosensitivity (HP:0000992)1.79653993
70Macrocytic anemia (HP:0001972)1.78820580
71Synostosis involving the elbow (HP:0003938)1.78174608
72Humeroradial synostosis (HP:0003041)1.78174608
73Short palm (HP:0004279)1.75285892
74Pallor (HP:0000980)1.74492133
75Abnormal number of erythroid precursors (HP:0012131)1.69318935
76Neutropenia (HP:0001875)1.68378166
77Respiratory failure (HP:0002878)1.62801450
78Joint laxity (HP:0001388)1.61680260
79Anteriorly placed anus (HP:0001545)1.61118517
80Hirsutism (HP:0001007)1.57429008
81Chromsome breakage (HP:0040012)1.55620137
82Heterotopia (HP:0002282)1.54283834
83Cerebral edema (HP:0002181)1.52600332
84Broad ribs (HP:0000885)1.51008808
85Brachycephaly (HP:0000248)1.46195540
86Abnormality of cochlea (HP:0000375)1.46137902
87Epistaxis (HP:0000421)1.42536958
88Abnormality of DNA repair (HP:0003254)1.41646366
89Sparse lateral eyebrow (HP:0005338)1.40919143
90Nasolacrimal duct obstruction (HP:0000579)1.39048750
91Increased number of teeth (HP:0011069)1.38838728
92Short palpebral fissure (HP:0012745)1.38699659
93Mesomelia (HP:0003027)1.38125459
94Homocystinuria (HP:0002156)1.37342727
95Abnormality of homocysteine metabolism (HP:0010919)1.37342727
96Wide nose (HP:0000445)1.36352307
97Emotional lability (HP:0000712)1.35116577
98Abnormality of the alveolar ridges (HP:0006477)1.33992752
99Abnormality of the humerus (HP:0003063)1.33220101
100Rough bone trabeculation (HP:0100670)1.30578709

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK28.46397023
2CDK128.23746101
3ERN15.35002295
4AKT34.41298266
5CDK84.10081358
6EEF2K2.96018750
7EPHA32.19877107
8OXSR12.04270831
9MAP3K101.99172517
10MAPKAPK31.68085655
11STK391.66874404
12DMPK1.63110612
13SIK21.53021120
14TRPM71.52970580
15FRK1.47387875
16MST41.44085150
17MYLK1.41883107
18EPHB11.30371052
19FGFR41.29972359
20STK41.27488181
21MKNK21.21221873
22PRKD11.18965842
23NUAK11.17515643
24ACVR1B1.16958465
25MAPKAPK51.15465226
26WNK41.02627129
27PRKCI0.87162500
28BRD40.82650573
29FGFR30.81234160
30PDPK10.71592142
31RPS6KB20.69094693
32NLK0.66011019
33MAP3K70.63780215
34ALK0.57193472
35FGFR20.56291592
36FER0.53511824
37NEK20.52890624
38AKT10.50004477
39PAK30.48703458
40IRAK10.48006424
41MTOR0.47644147
42BRAF0.46479448
43BRSK20.45080877
44TRIB30.45020712
45ADRBK20.42367911
46ERBB40.41753471
47MARK20.38697356
48CHEK20.38041657
49MKNK10.36202921
50MAPK30.34469642
51CDK70.32759211
52PDK10.32622735
53BMPR1B0.31862825
54AURKB0.31259214
55CHEK10.31039511
56MAPK130.30600865
57PRKCE0.29047938
58PRKG20.27524518
59CDK40.27195335
60PRKCG0.26030818
61MAPK10.24763816
62PRKCZ0.24747477
63MAPK120.22444745
64RPS6KA10.21143124
65FLT30.20087568
66ADRBK10.18772952
67MAPK150.17830404
68LMTK20.16965972
69GRK10.16389311
70ROCK10.16148120
71ATR0.15960314
72MAPK140.15881622
73PDGFRB0.15812341
74DDR20.15278202
75MAPK40.14817629
76PAK20.13520442
77RET0.13219406
78PTK20.13128815
79RIPK40.12373378
80ILK0.11833284
81BUB10.11671928
82TESK20.11551385
83CHUK0.10825173
84MAPKAPK20.10714875
85RPS6KA50.10518959
86DAPK30.10509570
87PRKCA0.10453895
88PIK3CG0.10295918
89RAF10.09857666
90JAK20.09468495
91CAMKK20.09099962
92BCKDK0.08913743
93MELK0.08601511
94PIM10.07874974
95IRAK40.07419028
96CSNK1E0.06402294
97NTRK30.06226187
98KIT0.05984663
99OBSCN0.05447213
100BLK0.05217571

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030085.39298005
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.88499416
3Selenocompound metabolism_Homo sapiens_hsa004503.41804646
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.22096786
5Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.96329952
6Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.85498451
7Basal transcription factors_Homo sapiens_hsa030222.84362703
82-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.71357353
9Taste transduction_Homo sapiens_hsa047422.65233853
10One carbon pool by folate_Homo sapiens_hsa006702.63693260
11Linoleic acid metabolism_Homo sapiens_hsa005912.29029591
12Salmonella infection_Homo sapiens_hsa051322.28828019
13p53 signaling pathway_Homo sapiens_hsa041152.24980940
14Glycerophospholipid metabolism_Homo sapiens_hsa005642.06523319
15mTOR signaling pathway_Homo sapiens_hsa041501.64561649
16RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.62943040
17RNA degradation_Homo sapiens_hsa030181.59562237
18Lysine degradation_Homo sapiens_hsa003101.51314251
19Mineral absorption_Homo sapiens_hsa049781.47208552
20Nucleotide excision repair_Homo sapiens_hsa034201.42582092
21Chemical carcinogenesis_Homo sapiens_hsa052041.36787687
22Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.31497859
23Glycerolipid metabolism_Homo sapiens_hsa005611.28441187
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.26685477
25Ether lipid metabolism_Homo sapiens_hsa005651.25007624
26Non-homologous end-joining_Homo sapiens_hsa034501.17816566
27Serotonergic synapse_Homo sapiens_hsa047261.14296639
28Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.11866747
29Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.08629293
30Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.08117594
31PI3K-Akt signaling pathway_Homo sapiens_hsa041511.06005910
32Regulation of autophagy_Homo sapiens_hsa041401.04563667
33Primary bile acid biosynthesis_Homo sapiens_hsa001201.04239414
34Fanconi anemia pathway_Homo sapiens_hsa034601.03325850
35Cell cycle_Homo sapiens_hsa041101.01430124
36Pyruvate metabolism_Homo sapiens_hsa006201.00097896
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.97113334
38Choline metabolism in cancer_Homo sapiens_hsa052310.85339719
39Longevity regulating pathway - mammal_Homo sapiens_hsa042110.82552744
40Protein export_Homo sapiens_hsa030600.78741779
41Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.76478629
42RNA transport_Homo sapiens_hsa030130.74958509
43Starch and sucrose metabolism_Homo sapiens_hsa005000.73500072
44Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69108868
45Gap junction_Homo sapiens_hsa045400.68811201
46Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.65867099
47Glucagon signaling pathway_Homo sapiens_hsa049220.65352784
48Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.64590428
49Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.63714335
50NF-kappa B signaling pathway_Homo sapiens_hsa040640.61017888
51Bladder cancer_Homo sapiens_hsa052190.60302269
52Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.59946147
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.59616757
54Fructose and mannose metabolism_Homo sapiens_hsa000510.58311470
55Sphingolipid metabolism_Homo sapiens_hsa006000.55546607
56Apoptosis_Homo sapiens_hsa042100.54203490
57Hepatitis B_Homo sapiens_hsa051610.49939255
58Alcoholism_Homo sapiens_hsa050340.49420819
59N-Glycan biosynthesis_Homo sapiens_hsa005100.49375334
60HIF-1 signaling pathway_Homo sapiens_hsa040660.47231620
61Other glycan degradation_Homo sapiens_hsa005110.47172036
62Spliceosome_Homo sapiens_hsa030400.46691808
63Glutathione metabolism_Homo sapiens_hsa004800.46127797
64Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.44501512
65Drug metabolism - other enzymes_Homo sapiens_hsa009830.44361551
66Arachidonic acid metabolism_Homo sapiens_hsa005900.44304444
67Steroid hormone biosynthesis_Homo sapiens_hsa001400.44191798
68Adipocytokine signaling pathway_Homo sapiens_hsa049200.43284151
69Insulin resistance_Homo sapiens_hsa049310.42762996
70Systemic lupus erythematosus_Homo sapiens_hsa053220.42700360
71Legionellosis_Homo sapiens_hsa051340.41682433
72Neurotrophin signaling pathway_Homo sapiens_hsa047220.41351936
73mRNA surveillance pathway_Homo sapiens_hsa030150.41241424
74Steroid biosynthesis_Homo sapiens_hsa001000.39412896
75Nitrogen metabolism_Homo sapiens_hsa009100.38655312
76Fat digestion and absorption_Homo sapiens_hsa049750.37806920
77Phagosome_Homo sapiens_hsa041450.37803744
78Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.37229732
79GABAergic synapse_Homo sapiens_hsa047270.35917076
80Proteoglycans in cancer_Homo sapiens_hsa052050.35771467
81Thyroid hormone synthesis_Homo sapiens_hsa049180.35560276
82Acute myeloid leukemia_Homo sapiens_hsa052210.35531332
83African trypanosomiasis_Homo sapiens_hsa051430.34045358
84Dorso-ventral axis formation_Homo sapiens_hsa043200.33858196
85AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.32977446
86Transcriptional misregulation in cancer_Homo sapiens_hsa052020.32369791
87Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.31673913
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.31017600
89Wnt signaling pathway_Homo sapiens_hsa043100.29775098
90Calcium signaling pathway_Homo sapiens_hsa040200.28741176
91Insulin secretion_Homo sapiens_hsa049110.28127441
92Melanoma_Homo sapiens_hsa052180.27334665
93Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.27278239
94Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.27251577
95Carbon metabolism_Homo sapiens_hsa012000.26612985
96Viral carcinogenesis_Homo sapiens_hsa052030.26401022
97TGF-beta signaling pathway_Homo sapiens_hsa043500.26098019
98Complement and coagulation cascades_Homo sapiens_hsa046100.25323545
99Jak-STAT signaling pathway_Homo sapiens_hsa046300.24861715
100Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.23028505

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