HBE1

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





Description: The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains (an alpha-like globin) constitute the embryonic hemoglobin Hb Gower I; two epsilon chains together with two alpha chains form the embryonic Hb Gower II. Both of these embryonic hemoglobins are normally supplanted by fetal, and later, adult hemoglobin. The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5'-epsilon - G-gamma - A-gamma - delta - beta-3' NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrocyte maturation (GO:0043249)9.41189013
2protoporphyrinogen IX metabolic process (GO:0046501)7.07537091
3protoporphyrinogen IX biosynthetic process (GO:0006782)6.47876167
4homocysteine metabolic process (GO:0050667)6.09028295
5proline biosynthetic process (GO:0006561)5.52920459
6nuclear pore complex assembly (GO:0051292)5.45671573
7DNA replication checkpoint (GO:0000076)5.41358291
8nuclear pore organization (GO:0006999)4.76132213
9regulation of translational fidelity (GO:0006450)4.73088333
10cellular response to zinc ion (GO:0071294)4.60169666
11autophagic vacuole fusion (GO:0000046)4.56140828
12DNA unwinding involved in DNA replication (GO:0006268)4.24482689
13cellular response to cadmium ion (GO:0071276)4.23294589
14regulation of histone H3-K27 methylation (GO:0061085)4.19167612
15ribosome assembly (GO:0042255)4.13902813
16porphyrin-containing compound biosynthetic process (GO:0006779)4.13565376
17regulation of mitotic spindle organization (GO:0060236)4.11165384
18regulation of histone H3-K4 methylation (GO:0051569)4.06509477
19porphyrin-containing compound metabolic process (GO:0006778)4.04968171
20ATP synthesis coupled proton transport (GO:0015986)4.04720135
21energy coupled proton transport, down electrochemical gradient (GO:0015985)4.04720135
22diterpenoid biosynthetic process (GO:0016102)4.00350087
23pore complex assembly (GO:0046931)3.98846831
24protein-cofactor linkage (GO:0018065)3.98260286
25heme biosynthetic process (GO:0006783)3.86292322
26response to dietary excess (GO:0002021)3.81912684
27heme metabolic process (GO:0042168)3.74000554
28viral transcription (GO:0019083)3.73961565
29positive regulation of megakaryocyte differentiation (GO:0045654)3.72626592
30hemoglobin metabolic process (GO:0020027)3.71988507
31ribosomal small subunit assembly (GO:0000028)3.67252091
32translational termination (GO:0006415)3.63553510
33organelle membrane fusion (GO:0090174)3.61954306
34S-adenosylmethionine metabolic process (GO:0046500)3.61820440
35regulation of RNA export from nucleus (GO:0046831)3.60576560
36tetrahydrofolate metabolic process (GO:0046653)3.59978043
37mitotic sister chromatid segregation (GO:0000070)3.59339667
38proline metabolic process (GO:0006560)3.58853405
39negative regulation of erythrocyte differentiation (GO:0045647)3.58638964
40positive regulation of vesicle fusion (GO:0031340)3.58262061
41tetrapyrrole biosynthetic process (GO:0033014)3.57028090
42formation of translation preinitiation complex (GO:0001731)3.50308896
43erythrocyte development (GO:0048821)3.44924505
44sister chromatid segregation (GO:0000819)3.41777265
45deoxyribonucleoside diphosphate metabolic process (GO:0009186)3.35050668
46folic acid metabolic process (GO:0046655)3.33856817
47vitamin A metabolic process (GO:0006776)3.33744957
48ATP biosynthetic process (GO:0006754)3.29316010
49mitotic nuclear envelope disassembly (GO:0007077)3.28222274
50DNA topological change (GO:0006265)3.23077024
51synapsis (GO:0007129)3.22136243
52proteasome assembly (GO:0043248)3.21770363
53DNA strand elongation involved in DNA replication (GO:0006271)3.18491881
54DNA replication initiation (GO:0006270)3.16260150
55translational elongation (GO:0006414)3.14969036
56regulation of response to osmotic stress (GO:0047484)3.14579269
57mucosal-associated lymphoid tissue development (GO:0048537)3.13459519
58Peyers patch development (GO:0048541)3.13459519
59oxidative phosphorylation (GO:0006119)3.12795903
60translational initiation (GO:0006413)3.11594382
61terpenoid biosynthetic process (GO:0016114)3.11559495
62SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.09028174
63regulation of DNA methylation (GO:0044030)3.08930133
64regulation of nucleobase-containing compound transport (GO:0032239)3.07491195
65DNA strand elongation (GO:0022616)3.06584333
66definitive hemopoiesis (GO:0060216)3.06096774
67granulocyte differentiation (GO:0030851)3.05765488
68Golgi transport vesicle coating (GO:0048200)3.05009454
69COPI coating of Golgi vesicle (GO:0048205)3.05009454
70nucleoside diphosphate biosynthetic process (GO:0009133)3.04945954
71cellular protein complex disassembly (GO:0043624)3.02450491
72protein complex disassembly (GO:0043241)3.01908474
73nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)3.01431070
74cotranslational protein targeting to membrane (GO:0006613)2.99913172
75succinate metabolic process (GO:0006105)2.99707499
76membrane disassembly (GO:0030397)2.99602802
77nuclear envelope disassembly (GO:0051081)2.99602802
78response to vitamin A (GO:0033189)2.98738777
79positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)2.96602186
80mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.95564109
81protein targeting to ER (GO:0045047)2.93171107
82sensory perception of smell (GO:0007608)2.91999577
83macromolecular complex disassembly (GO:0032984)2.89391433
84establishment of protein localization to endoplasmic reticulum (GO:0072599)2.87482415
85protein export from nucleus (GO:0006611)2.87287345
86removal of superoxide radicals (GO:0019430)2.86613498
87cellular response to superoxide (GO:0071451)2.86613498
88cellular response to oxygen radical (GO:0071450)2.86613498
89ribosomal large subunit biogenesis (GO:0042273)2.85963288
90oxaloacetate metabolic process (GO:0006107)2.84515870
91regulation of spindle organization (GO:0090224)2.82885850
92creatine metabolic process (GO:0006600)2.80833503
93GMP metabolic process (GO:0046037)2.80801528
94protein localization to endoplasmic reticulum (GO:0070972)2.80792164
95response to oxygen radical (GO:0000305)2.79809302
96maturation of SSU-rRNA (GO:0030490)2.79473397
97spliceosomal tri-snRNP complex assembly (GO:0000244)2.78066725
98positive regulation of granulocyte differentiation (GO:0030854)2.78065794
99* oxygen transport (GO:0015671)16.1320840
100* gas transport (GO:0015669)14.1963981

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.37819976
2EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.03168927
3GATA1_19941826_ChIP-Seq_K562_Human3.84710062
4FOXM1_23109430_ChIP-Seq_U2OS_Human3.42918265
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.30891183
6* NCOR1_26117541_ChIP-Seq_K562_Human3.28060609
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.14141044
8MYC_18555785_ChIP-Seq_MESCs_Mouse3.03692923
9E2F4_17652178_ChIP-ChIP_JURKAT_Human2.94024437
10GATA1_22025678_ChIP-Seq_K562_Human2.57510438
11* GATA2_19941826_ChIP-Seq_K562_Human2.39002232
12XRN2_22483619_ChIP-Seq_HELA_Human2.37305980
13MYC_19079543_ChIP-ChIP_MESCs_Mouse2.31632974
14THAP11_20581084_ChIP-Seq_MESCs_Mouse2.24667366
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.22177266
16FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.16273888
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.16175843
18KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.13964111
19EST1_17652178_ChIP-ChIP_JURKAT_Human2.06425065
20ZNF263_19887448_ChIP-Seq_K562_Human1.97025815
21MYC_19030024_ChIP-ChIP_MESCs_Mouse1.91880925
22DCP1A_22483619_ChIP-Seq_HELA_Human1.90654498
23PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.90362180
24JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.89282925
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.85923412
26ELF1_17652178_ChIP-ChIP_JURKAT_Human1.80327542
27POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.75891347
28CREB1_15753290_ChIP-ChIP_HEK293T_Human1.73178681
29PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.71800387
30CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.71013284
31TTF2_22483619_ChIP-Seq_HELA_Human1.68348835
32KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.68122260
33KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.68122260
34KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.68122260
35PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.61620675
36GABP_17652178_ChIP-ChIP_JURKAT_Human1.52642326
37CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.51873039
38MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.50585640
39NELFA_20434984_ChIP-Seq_ESCs_Mouse1.46445252
40TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.42762390
41AR_21909140_ChIP-Seq_LNCAP_Human1.41322125
42E2F1_21310950_ChIP-Seq_MCF-7_Human1.41024733
43SRF_21415370_ChIP-Seq_HL-1_Mouse1.39683948
44ESR1_15608294_ChIP-ChIP_MCF-7_Human1.37618848
45FOXP3_21729870_ChIP-Seq_TREG_Human1.36902325
46KDM5A_27292631_Chip-Seq_BREAST_Human1.34147781
47CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.32375005
48MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.32316954
49SCL_19346495_ChIP-Seq_HPC-7_Human1.31755192
50E2F1_18555785_ChIP-Seq_MESCs_Mouse1.31023695
51DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.29496608
52SPI1_23127762_ChIP-Seq_K562_Human1.28131628
53GABP_19822575_ChIP-Seq_HepG2_Human1.27104686
54TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26513956
55MYC_22102868_ChIP-Seq_BL_Human1.26392218
56ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.25671367
57MYCN_18555785_ChIP-Seq_MESCs_Mouse1.24693660
58TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.23816209
59KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.23803556
60ZFX_18555785_ChIP-Seq_MESCs_Mouse1.22113887
61GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.21249698
62VDR_22108803_ChIP-Seq_LS180_Human1.20768183
63HOXB4_20404135_ChIP-ChIP_EML_Mouse1.20058653
64PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19013615
65CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.17705082
66ELK1_19687146_ChIP-ChIP_HELA_Human1.17046040
67BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.14616069
68GATA1_22383799_ChIP-Seq_G1ME_Mouse1.13985523
69THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.11326139
70YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10905967
71KLF4_18555785_ChIP-Seq_MESCs_Mouse1.08715891
72CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.08571682
73MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.07486863
74VDR_23849224_ChIP-Seq_CD4+_Human1.06612595
75YY1_21170310_ChIP-Seq_MESCs_Mouse1.04003255
76STAT3_1855785_ChIP-Seq_MESCs_Mouse1.02428323
77CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.01263467
78TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.00239507
79ELK3_25401928_ChIP-Seq_HUVEC_Human0.99507871
80ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.98889511
81SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.98250590
82CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.97159001
83ERG_20887958_ChIP-Seq_HPC-7_Mouse0.93865799
84SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.92924937
85CIITA_25753668_ChIP-Seq_RAJI_Human0.92577376
86SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.91996352
87ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.89041204
88ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.88903394
89FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.87944801
90ELF1_20517297_ChIP-Seq_JURKAT_Human0.87827496
91NANOG_18555785_ChIP-Seq_MESCs_Mouse0.87479894
92FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.86980694
93ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.86537269
94CHD1_26751641_Chip-Seq_LNCaP_Human0.85159415
95CTCF_27219007_Chip-Seq_ERYTHROID_Human0.84222726
96CLOCK_20551151_ChIP-Seq_293T_Human0.83515753
97VDR_21846776_ChIP-Seq_THP-1_Human0.82981968
98GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.82158731
99TBX5_21415370_ChIP-Seq_HL-1_Mouse0.81030379
100SOX2_16153702_ChIP-ChIP_HESCs_Human0.80817258

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level6.80015692
2MP0003656_abnormal_erythrocyte_physiolo4.50459147
3MP0008995_early_reproductive_senescence4.37292691
4MP0003878_abnormal_ear_physiology4.26131905
5MP0005377_hearing/vestibular/ear_phenot4.26131905
6MP0004957_abnormal_blastocyst_morpholog3.37099477
7MP0000372_irregular_coat_pigmentation3.34640339
8MP0003111_abnormal_nucleus_morphology2.81103448
9MP0004885_abnormal_endolymph2.76733097
10MP0001545_abnormal_hematopoietic_system2.67432920
11MP0005397_hematopoietic_system_phenotyp2.67432920
12MP0010094_abnormal_chromosome_stability2.65233162
13MP0008058_abnormal_DNA_repair2.43981468
14MP0003786_premature_aging2.39355322
15MP0000678_abnormal_parathyroid_gland2.22909047
16MP0003186_abnormal_redox_activity2.19319676
17MP0009278_abnormal_bone_marrow2.15128400
18MP0004145_abnormal_muscle_electrophysio2.08735053
19MP0005083_abnormal_biliary_tract2.03280848
20MP0001188_hyperpigmentation2.01777549
21MP0009697_abnormal_copulation1.96264423
22MP0003693_abnormal_embryo_hatching1.81603931
23MP0008932_abnormal_embryonic_tissue1.79288310
24MP0002132_abnormal_respiratory_system1.72499588
25MP0005171_absent_coat_pigmentation1.71795405
26MP0005645_abnormal_hypothalamus_physiol1.70043235
27MP0003806_abnormal_nucleotide_metabolis1.69172436
28MP0003077_abnormal_cell_cycle1.63243908
29MP0003136_yellow_coat_color1.59149537
30MP0000350_abnormal_cell_proliferation1.51260339
31MP0008007_abnormal_cellular_replicative1.46603897
32MP0005636_abnormal_mineral_homeostasis1.43194397
33MP0000015_abnormal_ear_pigmentation1.42072277
34MP0004233_abnormal_muscle_weight1.41751096
35MP0006036_abnormal_mitochondrial_physio1.41630885
36MP0003567_abnormal_fetal_cardiomyocyte1.34843067
37MP0003984_embryonic_growth_retardation1.34183448
38MP0010307_abnormal_tumor_latency1.32310557
39MP0000313_abnormal_cell_death1.32130660
40MP0005451_abnormal_body_composition1.29822902
41MP0001672_abnormal_embryogenesis/_devel1.27807432
42MP0005380_embryogenesis_phenotype1.27807432
43MP0002088_abnormal_embryonic_growth/wei1.27765153
44MP0001697_abnormal_embryo_size1.25215550
45MP0002086_abnormal_extraembryonic_tissu1.22698177
46MP0003959_abnormal_lean_body1.20511454
47MP0004381_abnormal_hair_follicle1.19001468
48MP0001730_embryonic_growth_arrest1.12911351
49MP0002080_prenatal_lethality1.11848097
50MP0002095_abnormal_skin_pigmentation1.10192327
51MP0008775_abnormal_heart_ventricle1.07786087
52MP0005075_abnormal_melanosome_morpholog1.07740743
53MP0005187_abnormal_penis_morphology1.05261265
54MP0001299_abnormal_eye_distance/1.00147811
55MP0001529_abnormal_vocalization0.96892743
56MP0003879_abnormal_hair_cell0.96646809
57MP0002210_abnormal_sex_determination0.91406828
58MP0000681_abnormal_thyroid_gland0.89892792
59MP0003123_paternal_imprinting0.88945230
60MP0002396_abnormal_hematopoietic_system0.87187267
61MP0001929_abnormal_gametogenesis0.85229544
62MP0003718_maternal_effect0.83271063
63MP0002269_muscular_atrophy0.80495083
64MP0006035_abnormal_mitochondrial_morpho0.79495838
65MP0002139_abnormal_hepatobiliary_system0.79260825
66MP0003705_abnormal_hypodermis_morpholog0.77797605
67MP0002019_abnormal_tumor_incidence0.76609022
68MP0002084_abnormal_developmental_patter0.76338805
69MP0000647_abnormal_sebaceous_gland0.76044096
70MP0008057_abnormal_DNA_replication0.72049294
71MP0009931_abnormal_skin_appearance0.71956692
72MP0004808_abnormal_hematopoietic_stem0.71321149
73MP0003698_abnormal_male_reproductive0.71149125
74MP0001502_abnormal_circadian_rhythm0.71070831
75MP0005220_abnormal_exocrine_pancreas0.70409894
76MP0005076_abnormal_cell_differentiation0.68469760
77MP0001881_abnormal_mammary_gland0.66944343
78MP0003385_abnormal_body_wall0.66023139
79MP0009046_muscle_twitch0.65642394
80MP0004742_abnormal_vestibular_system0.64601642
81MP0002085_abnormal_embryonic_tissue0.64596734
82MP0004019_abnormal_vitamin_homeostasis0.63657851
83MP0003699_abnormal_female_reproductive0.63426589
84MP0002877_abnormal_melanocyte_morpholog0.62577552
85MP0002249_abnormal_larynx_morphology0.62167757
86MP0000631_abnormal_neuroendocrine_gland0.62103251
87MP0005410_abnormal_fertilization0.60221757
88MP0009672_abnormal_birth_weight0.59744365
89MP0004272_abnormal_basement_membrane0.59157921
90MP0004043_abnormal_pH_regulation0.59146935
91MP0008770_decreased_survivor_rate0.57226949
92MP0000358_abnormal_cell_content/0.56338226
93MP0000703_abnormal_thymus_morphology0.55086968
94MP0003221_abnormal_cardiomyocyte_apopto0.55044626
95MP0002722_abnormal_immune_system0.54637901
96MP0000609_abnormal_liver_physiology0.53552929
97MP0003942_abnormal_urinary_system0.52750369
98MP0002161_abnormal_fertility/fecundity0.52713585
99MP0004085_abnormal_heartbeat0.52248815
100MP0008438_abnormal_cutaneous_collagen0.51900464

Predicted human phenotypes

RankGene SetZ-score
1Reticulocytosis (HP:0001923)7.03835775
2Abnormality of reticulocytes (HP:0004312)5.57365350
3Abnormal gallbladder physiology (HP:0012438)5.52912781
4Cholecystitis (HP:0001082)5.52912781
5Pallor (HP:0000980)5.45750996
6Truncus arteriosus (HP:0001660)5.21362750
7Polycythemia (HP:0001901)4.65392022
8Hyperthyroidism (HP:0000836)4.33167051
9Ileus (HP:0002595)4.21862813
10Hypertensive crisis (HP:0100735)3.99726176
11Homocystinuria (HP:0002156)3.99599642
12Abnormality of homocysteine metabolism (HP:0010919)3.99599642
13Chromosomal breakage induced by crosslinking agents (HP:0003221)3.68772609
14Poikilocytosis (HP:0004447)3.55712393
15Chromsome breakage (HP:0040012)3.46376663
16Ankyloglossia (HP:0010296)3.23024975
17Bowel incontinence (HP:0002607)3.15611250
18Acanthocytosis (HP:0001927)3.12733426
19Microcytic anemia (HP:0001935)3.09662654
20Abnormal large intestine physiology (HP:0012700)2.95813142
21Cholelithiasis (HP:0001081)2.94359473
22Seborrheic dermatitis (HP:0001051)2.93151852
23Birth length less than 3rd percentile (HP:0003561)2.91614826
24Neoplasm of head and neck (HP:0012288)2.78267512
25Esophageal neoplasm (HP:0100751)2.78267512
26Abnormality of cells of the erythroid lineage (HP:0012130)2.77851408
27Abnormal number of erythroid precursors (HP:0012131)2.76065399
28Hyperbilirubinemia (HP:0002904)2.62349551
29Atelectasis (HP:0100750)2.60192209
30Abnormal gallbladder morphology (HP:0012437)2.57655520
31Insomnia (HP:0100785)2.56243880
32Abnormality of the tricuspid valve (HP:0001702)2.55832503
33Abnormality of cochlea (HP:0000375)2.51113648
34Abnormality of the gallbladder (HP:0005264)2.50488532
35Diaphragmatic weakness (HP:0009113)2.49583392
36Reticulocytopenia (HP:0001896)2.48150010
37Hypoparathyroidism (HP:0000829)2.41187746
38Submucous cleft hard palate (HP:0000176)2.40404358
39Aplasia/Hypoplasia of the earlobes (HP:0009906)2.40370377
40Hypochromic microcytic anemia (HP:0004840)2.38887378
41Morphological abnormality of the inner ear (HP:0011390)2.25763069
42Progressive macrocephaly (HP:0004481)2.25590253
43Nonimmune hydrops fetalis (HP:0001790)2.20846148
44Conjunctival hamartoma (HP:0100780)2.19886816
45Relative macrocephaly (HP:0004482)2.18597386
46Hepatocellular carcinoma (HP:0001402)2.16478613
47Abnormality of oral frenula (HP:0000190)2.13680945
48Acute encephalopathy (HP:0006846)2.12804006
49Stillbirth (HP:0003826)2.10023384
50Angiofibromas (HP:0010615)2.09563053
51Adenoma sebaceum (HP:0009720)2.09563053
52Upper limb muscle weakness (HP:0003484)2.07096168
53Breech presentation (HP:0001623)2.00788390
54Abnormal hemoglobin (HP:0011902)15.4385750
55Abnormality of the heme biosynthetic pathway (HP:0010472)10.7700215
56Nausea (HP:0002018)1.99902602
57Abnormal mitochondria in muscle tissue (HP:0008316)1.98791392
58Acute necrotizing encephalopathy (HP:0006965)1.94173345
59Abnormality of the fingertips (HP:0001211)1.94114897
60Sandal gap (HP:0001852)1.91731075
61Abnormality of the anterior horn cell (HP:0006802)1.88784455
62Degeneration of anterior horn cells (HP:0002398)1.88784455
63Abnormality of sulfur amino acid metabolism (HP:0004339)1.87997947
64Neoplasm of the rectum (HP:0100743)1.87161933
65Myelodysplasia (HP:0002863)1.85715425
66Abnormally folded helix (HP:0008544)1.82035249
67Myopathic facies (HP:0002058)1.81254710
68Neoplasm of the small intestine (HP:0100833)1.78699938
69Absent eyebrow (HP:0002223)1.78187876
70Breast hypoplasia (HP:0003187)1.76795052
71Flat cornea (HP:0007720)1.76741194
72Alveolar cell carcinoma (HP:0006519)1.76266828
73Gonadal dysgenesis (HP:0000133)1.75859367
74Disproportionate tall stature (HP:0001519)1.74554108
75Abnormality of nail color (HP:0100643)1.72069223
76Hypochromic anemia (HP:0001931)1.70340912
77Paralysis (HP:0003470)1.68036612
78Biliary tract neoplasm (HP:0100574)1.67928343
79Cafe-au-lait spot (HP:0000957)1.65340986
80Macrocytic anemia (HP:0001972)1.64073574
81Dysmetric saccades (HP:0000641)1.61517056
82Duplicated collecting system (HP:0000081)1.59064534
83Toxemia of pregnancy (HP:0100603)1.57069640
84Cheekbone underdevelopment (HP:0010669)1.52486614
85Hyponatremia (HP:0002902)1.52374516
86Aplastic anemia (HP:0001915)1.52163853
87Hamartoma of the eye (HP:0010568)1.52144116
88Nephroblastoma (Wilms tumor) (HP:0002667)1.50878558
89Deep philtrum (HP:0002002)1.48094452
90Abnormality of DNA repair (HP:0003254)1.46606810
91Septate vagina (HP:0001153)1.45820209
92Acute myeloid leukemia (HP:0004808)1.45335524
93Aplasia/Hypoplasia of the thymus (HP:0010515)1.44685949
94Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.44459742
95Decreased activity of mitochondrial respiratory chain (HP:0008972)1.44459742
96Abnormality of glycolysis (HP:0004366)1.44052466
97Increased muscle lipid content (HP:0009058)1.44032903
98Cortical dysplasia (HP:0002539)1.42593146
99Hand muscle atrophy (HP:0009130)1.42133568
100Aplasia/Hypoplasia of the uvula (HP:0010293)1.40246185

Predicted kinase interactions (KEA)

RankGene SetZ-score
1AKT35.89532117
2EIF2AK15.43722212
3KSR24.06827221
4RIPK43.30402016
5EEF2K2.95841998
6MAP3K22.82264203
7BRAF2.79431113
8CLK12.74327335
9TTK2.64945617
10NTRK32.56635725
11CDC72.48001272
12RAF12.40902660
13BMPR22.19589909
14PLK42.12315847
15NEK12.04262931
16WEE12.03513213
17KSR12.02091291
18BMX1.91627651
19TRPM71.71916827
20CDK121.47525655
21MAP3K41.45356412
22TSSK61.40841015
23ICK1.36551534
24PDK21.23568186
25MAP3K81.18134317
26NME11.16060216
27RET1.13574755
28IRAK31.13543767
29RPS6KB21.13393458
30NME21.05429891
31BRSK11.05071414
32CHEK21.04409747
33ILK1.03642117
34CCNB11.03559887
35SRPK11.03558246
36BUB10.99804072
37NEK20.96751953
38TRIB30.83348256
39MAP2K10.82716946
40STK40.81819530
41MAP3K60.81172327
42MKNK10.73369373
43MAP3K100.73326319
44JAK30.73212703
45ATR0.72674958
46NTRK10.72665632
47BRSK20.72339959
48CHEK10.72276447
49WNK40.71843719
50MAPKAPK50.69546140
51PAK10.66593238
52FGFR40.65698680
53MAPK120.65205339
54PBK0.63983246
55ATM0.63956301
56MAP2K60.62625397
57JAK20.60541367
58SGK10.53051162
59MAP3K70.52357682
60CDK10.52261022
61RPS6KA40.51955579
62MAP3K10.50970276
63MKNK20.50633545
64WNK10.50080561
65AURKB0.49553684
66CDK20.49312221
67TYRO30.47855080
68RPS6KA50.47798616
69MAP2K30.44842986
70CSNK2A20.44038090
71SCYL20.43953084
72MAP2K40.38401665
73PIM10.37564680
74MAPK100.36699175
75MARK30.36416697
76CSNK1E0.34889205
77DMPK0.34823135
78MTOR0.34597143
79CDK11A0.34080624
80CDK150.33510473
81CSNK2A10.32997632
82PLK10.32993120
83MAPKAPK30.32820601
84PLK30.31398173
85PASK0.30487775
86STK30.30459046
87RPS6KB10.30265041
88DYRK30.29275836
89CDK40.29241098
90IRAK10.28088384
91CDK180.27946463
92EPHA30.27823048
93PRKDC0.27270453
94EIF2AK30.26277912
95GSK3B0.26269201
96BTK0.25930998
97PKN10.25048925
98CDK140.24200960
99AKT20.24021995
100AURKA0.23706595

Predicted pathways (KEGG)

RankGene SetZ-score
1One carbon pool by folate_Homo sapiens_hsa006703.73084774
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.51852709
3Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008603.18355099
4Ribosome_Homo sapiens_hsa030103.10734061
5Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.94119890
6DNA replication_Homo sapiens_hsa030302.62779260
7Mismatch repair_Homo sapiens_hsa034302.38659007
8Homologous recombination_Homo sapiens_hsa034402.35313372
9Thyroid cancer_Homo sapiens_hsa052162.20607897
10Oxidative phosphorylation_Homo sapiens_hsa001901.98725257
11Acute myeloid leukemia_Homo sapiens_hsa052211.97929950
12Mineral absorption_Homo sapiens_hsa049781.92806867
13RNA transport_Homo sapiens_hsa030131.84617945
14Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.83025109
15Pyruvate metabolism_Homo sapiens_hsa006201.82387996
16Biosynthesis of amino acids_Homo sapiens_hsa012301.79971170
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.77341105
18Non-small cell lung cancer_Homo sapiens_hsa052231.74888218
19Parkinsons disease_Homo sapiens_hsa050121.74606381
20Spliceosome_Homo sapiens_hsa030401.72372696
21Carbon metabolism_Homo sapiens_hsa012001.69566662
22Chronic myeloid leukemia_Homo sapiens_hsa052201.66995122
23Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.60938078
24Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.60373524
25mTOR signaling pathway_Homo sapiens_hsa041501.53864965
26Malaria_Homo sapiens_hsa051441.52704530
27mRNA surveillance pathway_Homo sapiens_hsa030151.49743235
28Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.48258502
29SNARE interactions in vesicular transport_Homo sapiens_hsa041301.45898584
30Cell cycle_Homo sapiens_hsa041101.43872628
31Nucleotide excision repair_Homo sapiens_hsa034201.34235858
32Steroid biosynthesis_Homo sapiens_hsa001001.31889269
33Fanconi anemia pathway_Homo sapiens_hsa034601.31347357
34Bladder cancer_Homo sapiens_hsa052191.27579424
35Olfactory transduction_Homo sapiens_hsa047401.25741270
36Renal cell carcinoma_Homo sapiens_hsa052111.23089024
37Carbohydrate digestion and absorption_Homo sapiens_hsa049731.20682446
38Huntingtons disease_Homo sapiens_hsa050161.18548631
39VEGF signaling pathway_Homo sapiens_hsa043701.17990204
40Pancreatic cancer_Homo sapiens_hsa052121.15757189
41Central carbon metabolism in cancer_Homo sapiens_hsa052301.10570571
42Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.10258602
43Type II diabetes mellitus_Homo sapiens_hsa049301.08577916
44Glioma_Homo sapiens_hsa052141.06514730
45ErbB signaling pathway_Homo sapiens_hsa040121.04668563
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.02750081
47Cysteine and methionine metabolism_Homo sapiens_hsa002701.02133496
48Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.00004254
49Nicotine addiction_Homo sapiens_hsa050330.95352326
50Insulin signaling pathway_Homo sapiens_hsa049100.94269250
51Endometrial cancer_Homo sapiens_hsa052130.93311881
52HIF-1 signaling pathway_Homo sapiens_hsa040660.92628447
53Pentose phosphate pathway_Homo sapiens_hsa000300.92448284
54Arginine biosynthesis_Homo sapiens_hsa002200.92319399
55Alzheimers disease_Homo sapiens_hsa050100.90119344
56Proteasome_Homo sapiens_hsa030500.84180612
57Fructose and mannose metabolism_Homo sapiens_hsa000510.82849176
582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.82152919
59Cardiac muscle contraction_Homo sapiens_hsa042600.79541014
60Base excision repair_Homo sapiens_hsa034100.77366457
61Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.75127025
62Maturity onset diabetes of the young_Homo sapiens_hsa049500.74587750
63Prion diseases_Homo sapiens_hsa050200.73455299
64Basal transcription factors_Homo sapiens_hsa030220.70824437
65Nitrogen metabolism_Homo sapiens_hsa009100.67353689
66Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65307884
67Oocyte meiosis_Homo sapiens_hsa041140.64298814
68Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.63727044
69Melanoma_Homo sapiens_hsa052180.63394524
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.62573870
71Colorectal cancer_Homo sapiens_hsa052100.59328497
72AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.58808014
73Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.57902684
74Other glycan degradation_Homo sapiens_hsa005110.54275846
75Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.52580061
76Protein export_Homo sapiens_hsa030600.50658369
77Prolactin signaling pathway_Homo sapiens_hsa049170.50226214
78Selenocompound metabolism_Homo sapiens_hsa004500.46959487
79RNA degradation_Homo sapiens_hsa030180.44177079
80Purine metabolism_Homo sapiens_hsa002300.38884196
81Tyrosine metabolism_Homo sapiens_hsa003500.38086135
82AMPK signaling pathway_Homo sapiens_hsa041520.37819317
83Propanoate metabolism_Homo sapiens_hsa006400.37021332
84Prostate cancer_Homo sapiens_hsa052150.33807875
85Cyanoamino acid metabolism_Homo sapiens_hsa004600.33533679
86B cell receptor signaling pathway_Homo sapiens_hsa046620.33186178
87N-Glycan biosynthesis_Homo sapiens_hsa005100.32377753
88Metabolic pathways_Homo sapiens_hsa011000.30362264
89Butanoate metabolism_Homo sapiens_hsa006500.29721703
90Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.29003661
91Long-term potentiation_Homo sapiens_hsa047200.27170031
92MicroRNAs in cancer_Homo sapiens_hsa052060.25725859
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.22799721
94Choline metabolism in cancer_Homo sapiens_hsa052310.21506718
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.21285515
96Viral carcinogenesis_Homo sapiens_hsa052030.21120242
97FoxO signaling pathway_Homo sapiens_hsa040680.20355876
98Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.20294484
99Fatty acid metabolism_Homo sapiens_hsa012120.20205931
100Epstein-Barr virus infection_Homo sapiens_hsa051690.19226179

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