POU5F1B

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: This intronless gene was thought to be a transcribed pseudogene of POU class 5 homeobox 1, however, it has been reported that this gene can encode a functional protein. The encoded protein is nearly the same length as and highly similar to the POU class 5 homeobox 1 transcription factor, has been shown to be a weak transcriptional activator and may play a role in carcinogenesis and eye development. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)7.41415234
2chaperone-mediated protein transport (GO:0072321)6.71962594
3energy coupled proton transport, down electrochemical gradient (GO:0015985)6.05354570
4ATP synthesis coupled proton transport (GO:0015986)6.05354570
5establishment of protein localization to mitochondrial membrane (GO:0090151)5.84597417
6mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.77996000
7regulation of mitochondrial translation (GO:0070129)5.61201727
8respiratory electron transport chain (GO:0022904)5.41271832
9electron transport chain (GO:0022900)5.29531022
10chromatin remodeling at centromere (GO:0031055)5.26812780
11CENP-A containing nucleosome assembly (GO:0034080)5.11435517
12transcription elongation from RNA polymerase III promoter (GO:0006385)5.01238538
13termination of RNA polymerase III transcription (GO:0006386)5.01238538
14regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.80936706
15regulation of mitotic spindle checkpoint (GO:1903504)4.80936706
16ribosomal small subunit assembly (GO:0000028)4.49087999
17translational termination (GO:0006415)4.47757416
18viral transcription (GO:0019083)4.47494044
19ribosomal small subunit biogenesis (GO:0042274)4.45135617
20exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 4.41709287
21establishment of integrated proviral latency (GO:0075713)4.40838153
22protein complex biogenesis (GO:0070271)4.37962173
23nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)4.33706266
24mitochondrial respiratory chain complex assembly (GO:0033108)4.33547322
25proteasome assembly (GO:0043248)4.32657731
26pseudouridine synthesis (GO:0001522)4.32001142
27histone exchange (GO:0043486)4.30231848
28spliceosomal snRNP assembly (GO:0000387)4.21882227
29rRNA modification (GO:0000154)4.18590808
30protein neddylation (GO:0045116)4.07723858
31maturation of SSU-rRNA (GO:0030490)4.04031580
32DNA replication-independent nucleosome assembly (GO:0006336)3.99362821
33DNA replication-independent nucleosome organization (GO:0034724)3.99362821
34spliceosomal complex assembly (GO:0000245)3.96190168
35mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.95600048
36mitochondrial respiratory chain complex I assembly (GO:0032981)3.95600048
37NADH dehydrogenase complex assembly (GO:0010257)3.95600048
38cotranslational protein targeting to membrane (GO:0006613)3.92532350
39SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.92244720
40protein targeting to ER (GO:0045047)3.88074465
41respiratory chain complex IV assembly (GO:0008535)3.86928902
42cytochrome complex assembly (GO:0017004)3.84078737
43histone mRNA metabolic process (GO:0008334)3.81472567
44establishment of protein localization to endoplasmic reticulum (GO:0072599)3.75301200
45ribosomal large subunit biogenesis (GO:0042273)3.61390802
46water-soluble vitamin biosynthetic process (GO:0042364)3.61351499
47regulation of gene silencing by RNA (GO:0060966)3.59451986
48regulation of posttranscriptional gene silencing (GO:0060147)3.59451986
49regulation of gene silencing by miRNA (GO:0060964)3.59451986
50translational elongation (GO:0006414)3.58433540
51regulation of nuclear cell cycle DNA replication (GO:0033262)3.57752991
52protein localization to endoplasmic reticulum (GO:0070972)3.54541628
53protein targeting to mitochondrion (GO:0006626)3.54192233
54rRNA methylation (GO:0031167)3.53324116
55hydrogen ion transmembrane transport (GO:1902600)3.51171678
56regulation of helicase activity (GO:0051095)3.50310152
57translation (GO:0006412)3.49654219
58negative regulation of DNA-dependent DNA replication (GO:2000104)3.49371924
59translational initiation (GO:0006413)3.45008559
60nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.41951720
61DNA replication checkpoint (GO:0000076)3.40035032
62establishment of protein localization to mitochondrion (GO:0072655)3.37760214
63negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.35581761
64negative regulation of sister chromatid segregation (GO:0033046)3.32613008
65negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.32613008
66negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.32613008
67negative regulation of mitotic sister chromatid segregation (GO:0033048)3.32613008
68negative regulation of mitotic sister chromatid separation (GO:2000816)3.32613008
69inner mitochondrial membrane organization (GO:0007007)3.31457246
70negative regulation of telomerase activity (GO:0051974)3.30086266
71cellular protein complex disassembly (GO:0043624)3.29607179
72DNA damage response, detection of DNA damage (GO:0042769)3.29011712
73purine nucleobase biosynthetic process (GO:0009113)3.29002118
74protein localization to mitochondrion (GO:0070585)3.27132316
75ATP biosynthetic process (GO:0006754)3.27051871
76establishment of viral latency (GO:0019043)3.25112027
77kinetochore organization (GO:0051383)3.24457321
78negative regulation of chromosome segregation (GO:0051985)3.22419116
79otic vesicle formation (GO:0030916)3.22153057
80rRNA processing (GO:0006364)3.21605576
81viral life cycle (GO:0019058)3.20517343
82kinetochore assembly (GO:0051382)3.19922867
83DNA-templated transcription, termination (GO:0006353)3.19153478
84paraxial mesoderm development (GO:0048339)3.15322847
85mitochondrion morphogenesis (GO:0070584)3.14060641
86rRNA metabolic process (GO:0016072)3.13997553
87termination of RNA polymerase II transcription (GO:0006369)3.13332925
88intracellular protein transmembrane import (GO:0044743)3.11361437
89cellular component biogenesis (GO:0044085)3.10634451
90proton transport (GO:0015992)3.06504753
91regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.01014332
92hydrogen transport (GO:0006818)3.00970025
93negative regulation of ligase activity (GO:0051352)3.00262494
94negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.00262494
95maturation of 5.8S rRNA (GO:0000460)2.96342394
96DNA double-strand break processing (GO:0000729)2.96005553
97telomere maintenance via telomerase (GO:0007004)2.95256738
98ribonucleoprotein complex biogenesis (GO:0022613)2.95195773
99transcription from RNA polymerase I promoter (GO:0006360)2.94784128
100protein-cofactor linkage (GO:0018065)2.91003873

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.65379155
2E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.63916166
3E2F7_22180533_ChIP-Seq_HELA_Human4.20761852
4EST1_17652178_ChIP-ChIP_JURKAT_Human4.19570928
5GABP_17652178_ChIP-ChIP_JURKAT_Human4.08948418
6MYC_18555785_ChIP-Seq_MESCs_Mouse3.80687689
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human3.53761754
8E2F4_17652178_ChIP-ChIP_JURKAT_Human3.12001189
9CHD1_19587682_ChIP-ChIP_MESCs_Mouse3.04206489
10HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.96697504
11CREB1_15753290_ChIP-ChIP_HEK293T_Human2.90034462
12ELK1_19687146_ChIP-ChIP_HELA_Human2.86543049
13ETS1_20019798_ChIP-Seq_JURKAT_Human2.84349818
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.62479157
15HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.54771742
16MYC_19030024_ChIP-ChIP_MESCs_Mouse2.42400193
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.35371729
18MYC_19079543_ChIP-ChIP_MESCs_Mouse2.34945582
19FOXP3_21729870_ChIP-Seq_TREG_Human2.18879980
20THAP11_20581084_ChIP-Seq_MESCs_Mouse2.10910452
21MYC_18358816_ChIP-ChIP_MESCs_Mouse2.09269140
22FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.08701763
23VDR_23849224_ChIP-Seq_CD4+_Human2.05603262
24MYC_18940864_ChIP-ChIP_HL60_Human1.97512315
25KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.95185168
26KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.95185168
27KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.95185168
28YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.91178867
29POU5F1_16153702_ChIP-ChIP_HESCs_Human1.88565363
30EWS_26573619_Chip-Seq_HEK293_Human1.88444540
31FOXM1_23109430_ChIP-Seq_U2OS_Human1.87669900
32NANOG_16153702_ChIP-ChIP_HESCs_Human1.83381049
33TTF2_22483619_ChIP-Seq_HELA_Human1.80761782
34YY1_21170310_ChIP-Seq_MESCs_Mouse1.80573912
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.78505973
36SOX2_16153702_ChIP-ChIP_HESCs_Human1.77605516
37PADI4_21655091_ChIP-ChIP_MCF-7_Human1.74176550
38FUS_26573619_Chip-Seq_HEK293_Human1.72881459
39EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.66324611
40DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.64868860
41E2F1_18555785_ChIP-Seq_MESCs_Mouse1.64399418
42SRF_21415370_ChIP-Seq_HL-1_Mouse1.59599473
43E2F1_21310950_ChIP-Seq_MCF-7_Human1.58103596
44NELFA_20434984_ChIP-Seq_ESCs_Mouse1.55349369
45XRN2_22483619_ChIP-Seq_HELA_Human1.52304751
46MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.51221502
47FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.51204759
48VDR_22108803_ChIP-Seq_LS180_Human1.44553373
49POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.43860525
50DCP1A_22483619_ChIP-Seq_HELA_Human1.42146209
51POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.40197748
52ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.38738062
53ZNF274_21170338_ChIP-Seq_K562_Hela1.38458157
54FLI1_27457419_Chip-Seq_LIVER_Mouse1.37503406
55SOX2_18555785_ChIP-Seq_MESCs_Mouse1.37472588
56SALL1_21062744_ChIP-ChIP_HESCs_Human1.32836200
57POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.26773582
58NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.24932123
59ELK1_22589737_ChIP-Seq_MCF10A_Human1.24502990
60IGF1R_20145208_ChIP-Seq_DFB_Human1.20264835
61HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19582759
62HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.19473235
63NOTCH1_21737748_ChIP-Seq_TLL_Human1.18650121
64ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.18208945
65PCGF2_27294783_Chip-Seq_ESCs_Mouse1.15696985
66MYCN_18555785_ChIP-Seq_MESCs_Mouse1.15628103
67KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.14859869
68* P300_19829295_ChIP-Seq_ESCs_Human1.12331713
69NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.11783001
70TCF3_18692474_ChIP-Seq_MEFs_Mouse1.09474316
71NANOG_18555785_ChIP-Seq_MESCs_Mouse1.07689929
72NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.07130567
73GABP_19822575_ChIP-Seq_HepG2_Human1.07020428
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.02611777
75CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.02384901
76TP63_19390658_ChIP-ChIP_HaCaT_Human1.01304076
77HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.97265822
78TAF15_26573619_Chip-Seq_HEK293_Human0.94893058
79NFE2_27457419_Chip-Seq_LIVER_Mouse0.93160811
80SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.93061975
81PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.92044921
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.91953467
83PCGF2_27294783_Chip-Seq_NPCs_Mouse0.91482696
84AR_21909140_ChIP-Seq_LNCAP_Human0.83478880
85EZH2_27294783_Chip-Seq_NPCs_Mouse0.83368005
86RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.83286599
87CTBP1_25329375_ChIP-Seq_LNCAP_Human0.82353174
88E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.81567491
89TCF3_18692474_ChIP-Seq_MESCs_Mouse0.81283149
90GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.80693162
91SUZ12_27294783_Chip-Seq_NPCs_Mouse0.80604479
92SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.78683744
93SOX2_18692474_ChIP-Seq_MEFs_Mouse0.78408725
94BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.77463562
95RBPJ_21746931_ChIP-Seq_IB4_Human0.73881257
96TP53_22573176_ChIP-Seq_HFKS_Human0.72622625
97NANOG_19829295_ChIP-Seq_ESCs_Human0.71155636
98SOX2_19829295_ChIP-Seq_ESCs_Human0.71155636
99CTBP2_25329375_ChIP-Seq_LNCAP_Human0.69854467
100CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.69648709

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003941_abnormal_skin_development6.12868386
2MP0006292_abnormal_olfactory_placode5.70569423
3MP0009379_abnormal_foot_pigmentation5.10492804
4MP0003693_abnormal_embryo_hatching3.21092923
5MP0003136_yellow_coat_color3.09580585
6MP0004957_abnormal_blastocyst_morpholog2.92797730
7MP0001188_hyperpigmentation2.84436020
8MP0002277_abnormal_respiratory_mucosa2.71668705
9MP0002254_reproductive_system_inflammat2.66396458
10MP0001293_anophthalmia2.65595180
11MP0003111_abnormal_nucleus_morphology2.30637863
12MP0010094_abnormal_chromosome_stability2.29818555
13MP0008877_abnormal_DNA_methylation2.29225062
14MP0003718_maternal_effect2.25099923
15MP0008058_abnormal_DNA_repair2.21789764
16MP0003890_abnormal_embryonic-extraembry2.00398682
17MP0003567_abnormal_fetal_cardiomyocyte1.95674925
18MP0003077_abnormal_cell_cycle1.82938000
19MP0006072_abnormal_retinal_apoptosis1.79638119
20MP0002938_white_spotting1.70018441
21MP0001529_abnormal_vocalization1.67866386
22MP0001485_abnormal_pinna_reflex1.63303714
23MP0008007_abnormal_cellular_replicative1.61514835
24MP0002736_abnormal_nociception_after1.61426782
25MP0008057_abnormal_DNA_replication1.59453469
26MP0008932_abnormal_embryonic_tissue1.54353062
27MP0005084_abnormal_gallbladder_morpholo1.42120127
28MP0003938_abnormal_ear_development1.37313728
29MP0000631_abnormal_neuroendocrine_gland1.37188837
30MP0006035_abnormal_mitochondrial_morpho1.36398474
31MP0003186_abnormal_redox_activity1.33670042
32MP0000579_abnormal_nail_morphology1.31401279
33MP0009697_abnormal_copulation1.28164070
34MP0001984_abnormal_olfaction1.26583402
35MP0000049_abnormal_middle_ear1.26113266
36MP0003011_delayed_dark_adaptation1.22761035
37MP0003786_premature_aging1.21963849
38MP0004133_heterotaxia1.21406655
39MP0002697_abnormal_eye_size1.18627742
40MP0001286_abnormal_eye_development1.18607735
41MP0008995_early_reproductive_senescence1.16004659
42MP0003937_abnormal_limbs/digits/tail_de1.15635886
43MP0003878_abnormal_ear_physiology1.13304832
44MP0005377_hearing/vestibular/ear_phenot1.13304832
45MP0004142_abnormal_muscle_tone1.11087909
46MP0001968_abnormal_touch/_nociception1.09656346
47MP0002111_abnormal_tail_morphology1.05345654
48MP0006036_abnormal_mitochondrial_physio1.05012916
49MP0009672_abnormal_birth_weight1.04767717
50MP0005551_abnormal_eye_electrophysiolog1.03281390
51MP0003121_genomic_imprinting1.01963567
52MP0002233_abnormal_nose_morphology1.00569200
53MP0002085_abnormal_embryonic_tissue1.00007202
54MP0000350_abnormal_cell_proliferation0.99446383
55MP0002210_abnormal_sex_determination0.97026765
56MP0003123_paternal_imprinting0.96373122
57MP0001145_abnormal_male_reproductive0.95174288
58MP0003195_calcinosis0.93843154
59MP0001177_atelectasis0.92446418
60MP0001919_abnormal_reproductive_system0.91917832
61MP0008872_abnormal_physiological_respon0.91908765
62MP0005389_reproductive_system_phenotype0.91700499
63MP0002160_abnormal_reproductive_system0.91149377
64MP0002653_abnormal_ependyma_morphology0.89416246
65MP0004019_abnormal_vitamin_homeostasis0.89361203
66MP0001697_abnormal_embryo_size0.88966662
67MP0003119_abnormal_digestive_system0.84658415
68MP0002796_impaired_skin_barrier0.84360955
69MP0008789_abnormal_olfactory_epithelium0.82662504
70MP0000653_abnormal_sex_gland0.81894171
71MP0001730_embryonic_growth_arrest0.81611800
72MP0010030_abnormal_orbit_morphology0.78302385
73MP0002138_abnormal_hepatobiliary_system0.76777129
74MP0004134_abnormal_chest_morphology0.76386194
75MP0002751_abnormal_autonomic_nervous0.75056304
76MP0009703_decreased_birth_body0.74123929
77MP0002734_abnormal_mechanical_nocicepti0.73958583
78MP0005253_abnormal_eye_physiology0.73653962
79MP0001486_abnormal_startle_reflex0.71338897
80MP0005174_abnormal_tail_pigmentation0.69854137
81MP0001929_abnormal_gametogenesis0.69226730
82MP0002084_abnormal_developmental_patter0.68661862
83MP0002837_dystrophic_cardiac_calcinosis0.68532480
84MP0003755_abnormal_palate_morphology0.68047376
85MP0002735_abnormal_chemical_nociception0.66538412
86MP0001764_abnormal_homeostasis0.66169029
87MP0002272_abnormal_nervous_system0.65551528
88MP0003698_abnormal_male_reproductive0.65245721
89MP0003137_abnormal_impulse_conducting0.64426299
90MP0004215_abnormal_myocardial_fiber0.63631823
91MP0000762_abnormal_tongue_morphology0.63604948
92MP0009745_abnormal_behavioral_response0.63541584
93MP0002752_abnormal_somatic_nervous0.63529467
94MP0005391_vision/eye_phenotype0.62634432
95MP0000428_abnormal_craniofacial_morphol0.61757828
96MP0003787_abnormal_imprinting0.61088002
97MP0000432_abnormal_head_morphology0.58633922
98MP0004885_abnormal_endolymph0.58499323
99MP0003861_abnormal_nervous_system0.58432546
100MP0001299_abnormal_eye_distance/0.55807553

Predicted human phenotypes

RankGene SetZ-score
1Septo-optic dysplasia (HP:0100842)5.21509725
2Acute necrotizing encephalopathy (HP:0006965)4.89122871
3Increased hepatocellular lipid droplets (HP:0006565)4.76808091
4Acute encephalopathy (HP:0006846)4.28380632
5Lipid accumulation in hepatocytes (HP:0006561)4.26780819
6Mitochondrial inheritance (HP:0001427)4.17460566
7Abnormal mitochondria in muscle tissue (HP:0008316)4.15805883
8Progressive macrocephaly (HP:0004481)4.03501665
9Abnormal number of erythroid precursors (HP:0012131)3.91642582
10Congenital, generalized hypertrichosis (HP:0004540)3.87483762
11Macrocytic anemia (HP:0001972)3.68602533
12Abnormality of cells of the erythroid lineage (HP:0012130)3.68288016
13Oral leukoplakia (HP:0002745)3.65444952
14Increased CSF lactate (HP:0002490)3.61236101
15Renal Fanconi syndrome (HP:0001994)3.59987762
16Reticulocytopenia (HP:0001896)3.39587833
17Colon cancer (HP:0003003)3.34670776
18Aplastic anemia (HP:0001915)3.23034100
19Abnormality of homocysteine metabolism (HP:0010919)3.20584839
20Homocystinuria (HP:0002156)3.20584839
21Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.14714372
22Hepatocellular necrosis (HP:0001404)3.14496824
23Cerebral edema (HP:0002181)3.12180534
24Methylmalonic acidemia (HP:0002912)3.09941528
25Absent septum pellucidum (HP:0001331)3.09015042
26Exertional dyspnea (HP:0002875)3.05968520
27Bilateral microphthalmos (HP:0007633)3.05588390
28Maternal diabetes (HP:0009800)2.99728734
29Pendular nystagmus (HP:0012043)2.99430934
30Hypoglycemic seizures (HP:0002173)2.88110144
31Methylmalonic aciduria (HP:0012120)2.84060193
32Optic nerve hypoplasia (HP:0000609)2.82196475
33Abnormality of the septum pellucidum (HP:0007375)2.74650796
34Megaloblastic anemia (HP:0001889)2.74342991
35Pallor (HP:0000980)2.70603205
36Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.69364735
37Abnormality of the lacrimal duct (HP:0011481)2.66884965
38Pancreatic islet-cell hyperplasia (HP:0004510)2.64362498
39Hyperinsulinemic hypoglycemia (HP:0000825)2.63655437
40Increased intramyocellular lipid droplets (HP:0012240)2.63473717
41Abnormality of methionine metabolism (HP:0010901)2.62772256
42Pancreatic fibrosis (HP:0100732)2.60531819
43Hepatic necrosis (HP:0002605)2.55423753
44Respiratory difficulties (HP:0002880)2.54470362
45Meckel diverticulum (HP:0002245)2.50188434
46Abnormality of the labia minora (HP:0012880)2.47849195
47Abnormality of renal resorption (HP:0011038)2.44172007
48Abnormality of the nasolacrimal system (HP:0000614)2.41535159
49Abnormal lung lobation (HP:0002101)2.40460697
50Nasolacrimal duct obstruction (HP:0000579)2.37432769
51Abnormality of the ileum (HP:0001549)2.35612335
52Leukodystrophy (HP:0002415)2.34432427
53Abnormal number of incisors (HP:0011064)2.33103215
54Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.32766196
55Decreased activity of mitochondrial respiratory chain (HP:0008972)2.32766196
56Multiple enchondromatosis (HP:0005701)2.30243271
57Pancreatic cysts (HP:0001737)2.25607571
58Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.25306153
59Optic disc pallor (HP:0000543)2.19423644
60Confusion (HP:0001289)2.18793094
613-Methylglutaconic aciduria (HP:0003535)2.18518141
62Abnormality of chromosome stability (HP:0003220)2.17786479
63Respiratory failure (HP:0002878)2.17051119
64Esophageal atresia (HP:0002032)2.15060888
65Cleft eyelid (HP:0000625)2.14195639
66Hypoglycemic coma (HP:0001325)2.12919602
67Selective tooth agenesis (HP:0001592)2.12647273
68Sparse eyelashes (HP:0000653)2.10717101
69True hermaphroditism (HP:0010459)2.10680472
70Abnormality of aspartate family amino acid metabolism (HP:0010899)2.10620382
71Hyperphosphaturia (HP:0003109)2.08734947
72Abnormality of serum amino acid levels (HP:0003112)2.08404051
73Exercise intolerance (HP:0003546)2.07830709
74Lactic acidosis (HP:0003128)2.07435031
75Increased muscle lipid content (HP:0009058)2.07354881
76Lethargy (HP:0001254)2.03223694
77Hyperglycinuria (HP:0003108)2.02968006
78Breast aplasia (HP:0100783)2.02452037
79Increased serum lactate (HP:0002151)2.02118866
80Anophthalmia (HP:0000528)2.01387348
81Birth length less than 3rd percentile (HP:0003561)2.01302198
82Cellular immunodeficiency (HP:0005374)1.99342664
83Symptomatic seizures (HP:0011145)1.97388567
84Facial cleft (HP:0002006)1.97345542
85Hyperglycinemia (HP:0002154)1.96830739
86Wide nose (HP:0000445)1.95514022
87Amniotic constriction ring (HP:0009775)1.92916172
88Abnormality of placental membranes (HP:0011409)1.92916172
89Abolished electroretinogram (ERG) (HP:0000550)1.90590293
90Rib fusion (HP:0000902)1.89563228
91Pancytopenia (HP:0001876)1.86844282
92Abnormality of sulfur amino acid metabolism (HP:0004339)1.85449006
93Aplasia/Hypoplasia of the uvula (HP:0010293)1.85143219
94Absent hair (HP:0002298)1.83821675
95Abnormality of the vitamin B12 metabolism (HP:0004341)1.83618418
96Hypogonadotrophic hypogonadism (HP:0000044)1.83383507
97Tracheoesophageal fistula (HP:0002575)1.82903496
98Aplasia/Hypoplasia of the breasts (HP:0010311)1.82871618
99Partial duplication of thumb phalanx (HP:0009944)1.77724884
100Sclerocornea (HP:0000647)1.75750365

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.15223734
2CDC74.49565145
3TNIK3.97706539
4BUB13.82249006
5PBK3.73836337
6MST43.43344691
7NME13.02188235
8TAF12.83372625
9STK162.67828493
10VRK12.52954151
11DYRK22.37194128
12TTK2.31246011
13SRPK12.29509223
14ZAK2.22840415
15WNK32.09334682
16MKNK22.08471997
17PLK32.02160140
18NUAK11.98522075
19MKNK11.71594258
20BMPR1B1.66405856
21DYRK31.65572617
22PLK41.53725400
23ACVR1B1.46397839
24PLK11.44263744
25GRK11.33815008
26NME21.26397581
27ADRBK21.23353319
28CDK191.14072964
29BRSK21.11205918
30EIF2AK31.08751006
31OXSR11.05895753
32NEK21.04745984
33PNCK1.04744237
34NLK1.04216502
35CHEK21.02609643
36STK41.00829177
37INSRR0.96738517
38STK38L0.95221092
39AURKB0.93479107
40TLK10.93355394
41CASK0.91673125
42WEE10.86512709
43STK30.83281543
44CSNK1G10.80854557
45CDK30.77180832
46MAP3K100.75895609
47PRKCG0.71341563
48PINK10.67405184
49CSNK2A10.66419072
50ALK0.65707092
51CSNK2A20.65259417
52ATR0.65006274
53CSNK1E0.64060043
54NEK10.62605685
55FRK0.62174860
56MAP4K20.60839508
57MUSK0.58151191
58ATM0.53004962
59STK240.51394656
60CDK70.49696103
61EIF2AK20.49559905
62FGFR10.49537353
63CHEK10.49281015
64CSNK1A10.46821387
65MATK0.45095618
66CSNK1G20.42130665
67LATS10.40342968
68WNK40.39922973
69RPS6KA50.39519159
70PRKG20.38787276
71TIE10.38215741
72LATS20.37958571
73CAMK10.37756773
74CDK10.37102704
75AURKA0.36524872
76PIM10.36088608
77PRKDC0.35790139
78PRKCE0.33902752
79FGFR20.33450769
80CDK20.31411596
81TEC0.30831941
82CDK40.30491421
83MAP3K90.30325404
84RPS6KA40.30323273
85TRIM280.29539986
86EIF2AK10.27425198
87PRKG10.26352009
88MAP2K70.25711630
89BCKDK0.25652929
90PRKACB0.25078342
91ERBB40.24174563
92STK390.23561657
93TAOK20.23010755
94CSNK1G30.20687164
95DMPK0.20599068
96PRKACA0.19023777
97SGK10.18113659
98ABL20.17954726
99OBSCN0.17837487
100DYRK1A0.17560628

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030104.76626341
2Oxidative phosphorylation_Homo sapiens_hsa001904.57960102
3Parkinsons disease_Homo sapiens_hsa050123.85568879
4RNA polymerase_Homo sapiens_hsa030203.77167750
5Proteasome_Homo sapiens_hsa030503.55509693
6Huntingtons disease_Homo sapiens_hsa050162.96564619
7Mismatch repair_Homo sapiens_hsa034302.91170148
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.87252515
9Homologous recombination_Homo sapiens_hsa034402.82206909
10DNA replication_Homo sapiens_hsa030302.68797116
11Spliceosome_Homo sapiens_hsa030402.67485769
12Alzheimers disease_Homo sapiens_hsa050102.61783754
13Protein export_Homo sapiens_hsa030602.61723964
14Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.43338084
15Cardiac muscle contraction_Homo sapiens_hsa042602.28059754
16RNA degradation_Homo sapiens_hsa030181.98937549
17Basal transcription factors_Homo sapiens_hsa030221.81466523
18Vitamin digestion and absorption_Homo sapiens_hsa049771.73469695
19RNA transport_Homo sapiens_hsa030131.72104651
20One carbon pool by folate_Homo sapiens_hsa006701.69138080
21Nucleotide excision repair_Homo sapiens_hsa034201.54143848
22Base excision repair_Homo sapiens_hsa034101.53180031
23Non-homologous end-joining_Homo sapiens_hsa034501.44507250
24Pyrimidine metabolism_Homo sapiens_hsa002401.44304445
25Selenocompound metabolism_Homo sapiens_hsa004501.43187731
26Fanconi anemia pathway_Homo sapiens_hsa034601.35610954
27Purine metabolism_Homo sapiens_hsa002301.20544082
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.16598842
29Folate biosynthesis_Homo sapiens_hsa007901.14918549
30Pyruvate metabolism_Homo sapiens_hsa006201.12737384
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.04345430
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.02517864
33Cell cycle_Homo sapiens_hsa041101.00748885
34Cysteine and methionine metabolism_Homo sapiens_hsa002701.00225138
35Phototransduction_Homo sapiens_hsa047440.97782750
36Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.95791785
37Glutathione metabolism_Homo sapiens_hsa004800.95775136
38Propanoate metabolism_Homo sapiens_hsa006400.93085639
39Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.91734593
40mRNA surveillance pathway_Homo sapiens_hsa030150.87966990
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.83902682
42Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.81530278
43Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.74481721
44Metabolic pathways_Homo sapiens_hsa011000.70928884
45Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.70076474
46Linoleic acid metabolism_Homo sapiens_hsa005910.68739449
47Retinol metabolism_Homo sapiens_hsa008300.65312658
48Nicotine addiction_Homo sapiens_hsa050330.64685084
49Chemical carcinogenesis_Homo sapiens_hsa052040.64147043
50Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.63945538
51Basal cell carcinoma_Homo sapiens_hsa052170.61761693
52Tryptophan metabolism_Homo sapiens_hsa003800.59521630
53Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.59319097
54Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.58986938
55Steroid biosynthesis_Homo sapiens_hsa001000.57820831
56Pentose and glucuronate interconversions_Homo sapiens_hsa000400.57565207
57Vitamin B6 metabolism_Homo sapiens_hsa007500.56943019
58Maturity onset diabetes of the young_Homo sapiens_hsa049500.55514523
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.53761649
60Oocyte meiosis_Homo sapiens_hsa041140.53698019
61Hedgehog signaling pathway_Homo sapiens_hsa043400.52124176
62Caffeine metabolism_Homo sapiens_hsa002320.49934993
63Nitrogen metabolism_Homo sapiens_hsa009100.48209656
64Wnt signaling pathway_Homo sapiens_hsa043100.47891246
65alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.47052776
66Taste transduction_Homo sapiens_hsa047420.42154913
67Butanoate metabolism_Homo sapiens_hsa006500.41604080
68Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.41135859
69Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.39018072
70Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.36970088
71beta-Alanine metabolism_Homo sapiens_hsa004100.35749887
72Epstein-Barr virus infection_Homo sapiens_hsa051690.35456906
73Fatty acid degradation_Homo sapiens_hsa000710.34659003
74Peroxisome_Homo sapiens_hsa041460.34598566
75Fat digestion and absorption_Homo sapiens_hsa049750.31876769
76Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29132377
77Olfactory transduction_Homo sapiens_hsa047400.26637164
78Systemic lupus erythematosus_Homo sapiens_hsa053220.26558084
79Fatty acid elongation_Homo sapiens_hsa000620.26328615
80Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.25042300
81Arachidonic acid metabolism_Homo sapiens_hsa005900.24236012
82Melanoma_Homo sapiens_hsa052180.23559476
83Ether lipid metabolism_Homo sapiens_hsa005650.22970912
84Collecting duct acid secretion_Homo sapiens_hsa049660.21870290
85Thyroid cancer_Homo sapiens_hsa052160.21825549
86Circadian rhythm_Homo sapiens_hsa047100.20049255
87Hippo signaling pathway_Homo sapiens_hsa043900.17877590
88* Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.17864007
89TGF-beta signaling pathway_Homo sapiens_hsa043500.16581130
90Serotonergic synapse_Homo sapiens_hsa047260.16348381
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.16119015
92p53 signaling pathway_Homo sapiens_hsa041150.16012768
93Sulfur relay system_Homo sapiens_hsa041220.15495900
94Steroid hormone biosynthesis_Homo sapiens_hsa001400.14391269
95Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.13322506
96Tight junction_Homo sapiens_hsa045300.12291237
97Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.10986688
98Arginine and proline metabolism_Homo sapiens_hsa003300.09867252
99Drug metabolism - other enzymes_Homo sapiens_hsa009830.09346924
100Fatty acid metabolism_Homo sapiens_hsa012120.06375126

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