MAGEA2B

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 gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. This gene has two identical copies at different loci. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of translational fidelity (GO:0006450)6.06706898
2L-serine metabolic process (GO:0006563)5.00302742
3COPI coating of Golgi vesicle (GO:0048205)4.66849588
4Golgi transport vesicle coating (GO:0048200)4.66849588
5ribosome assembly (GO:0042255)4.55130879
6folic acid-containing compound biosynthetic process (GO:0009396)4.53554589
7formation of translation preinitiation complex (GO:0001731)4.51101518
8nuclear pore complex assembly (GO:0051292)4.46721017
9proline biosynthetic process (GO:0006561)4.13777859
10negative regulation of protein acetylation (GO:1901984)4.07036303
11mitotic chromosome condensation (GO:0007076)4.02563869
12ribosome biogenesis (GO:0042254)3.95510587
13nuclear pore organization (GO:0006999)3.91870183
14folic acid-containing compound metabolic process (GO:0006760)3.90240112
15IMP biosynthetic process (GO:0006188)3.88508326
16DNA unwinding involved in DNA replication (GO:0006268)3.86236938
17regulation of translational elongation (GO:0006448)3.85738379
18regulation of translational termination (GO:0006449)3.70762757
19tRNA aminoacylation for protein translation (GO:0006418)3.69777228
20homocysteine metabolic process (GO:0050667)3.66815391
21serine family amino acid biosynthetic process (GO:0009070)3.58978725
22biotin metabolic process (GO:0006768)3.57214434
23tRNA aminoacylation (GO:0043039)3.54917296
24amino acid activation (GO:0043038)3.54917296
25pteridine-containing compound biosynthetic process (GO:0042559)3.52605230
26nucleobase-containing small molecule interconversion (GO:0015949)3.48377702
27ribonucleoprotein complex biogenesis (GO:0022613)3.47361017
28DNA replication initiation (GO:0006270)3.40407668
29rRNA methylation (GO:0031167)3.39101237
30pteridine-containing compound metabolic process (GO:0042558)3.38807267
31IMP metabolic process (GO:0046040)3.38568920
32purine nucleobase biosynthetic process (GO:0009113)3.34261419
33rRNA modification (GO:0000154)3.29523921
34DNA strand elongation involved in DNA replication (GO:0006271)3.29288517
35mitotic nuclear envelope disassembly (GO:0007077)3.29246920
36iron ion import (GO:0097286)3.25391577
37mitochondrial RNA metabolic process (GO:0000959)3.23021855
38transcription from mitochondrial promoter (GO:0006390)3.22749405
39protoporphyrinogen IX metabolic process (GO:0046501)3.21925888
40DNA strand elongation (GO:0022616)3.19512139
41nucleobase biosynthetic process (GO:0046112)3.19264360
42protein complex localization (GO:0031503)3.18037594
43folic acid metabolic process (GO:0046655)3.17377369
44pore complex assembly (GO:0046931)3.16121070
45mitotic sister chromatid segregation (GO:0000070)3.16012091
46tetrahydrofolate metabolic process (GO:0046653)3.15874147
47mRNA cleavage (GO:0006379)3.11277883
48mitochondrial DNA metabolic process (GO:0032042)3.10920574
49membrane disassembly (GO:0030397)3.08861143
50nuclear envelope disassembly (GO:0051081)3.08861143
51ncRNA 3-end processing (GO:0043628)3.06540813
52cellular protein complex localization (GO:0034629)3.06094175
53ribosomal large subunit biogenesis (GO:0042273)3.04788015
54protein localization to microtubule (GO:0035372)2.98188859
55maturation of SSU-rRNA (GO:0030490)2.97228318
56regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.94961770
57telomere maintenance via semi-conservative replication (GO:0032201)2.94242745
58retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.92689349
59ribosomal small subunit biogenesis (GO:0042274)2.91361788
60chromosome condensation (GO:0030261)2.84731151
61nuclear envelope organization (GO:0006998)2.83822026
62mitotic metaphase plate congression (GO:0007080)2.83517769
63protein export from nucleus (GO:0006611)2.81227572
64sister chromatid segregation (GO:0000819)2.80823309
65ribosomal small subunit assembly (GO:0000028)2.80461984
66regulation of protein sumoylation (GO:0033233)2.79371152
67nuclear envelope reassembly (GO:0031468)2.75321012
68mitotic nuclear envelope reassembly (GO:0007084)2.75321012
69NADH metabolic process (GO:0006734)2.73517676
70proteasome assembly (GO:0043248)2.73116610
71maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.72291274
72alpha-amino acid biosynthetic process (GO:1901607)2.68373762
73proline metabolic process (GO:0006560)2.68027912
74negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.67000805
75maturation of 5.8S rRNA (GO:0000460)2.66012228
76terpenoid biosynthetic process (GO:0016114)2.64667501
77spliceosomal tri-snRNP complex assembly (GO:0000244)2.63697924
78gonadal mesoderm development (GO:0007506)2.63516248
79rRNA processing (GO:0006364)2.63466865
80positive regulation of DNA-dependent DNA replication (GO:2000105)2.63397486
81chaperone-mediated protein complex assembly (GO:0051131)2.63148892
82sulfur amino acid biosynthetic process (GO:0000097)2.62355116
83DNA packaging (GO:0006323)2.61542149
84negative regulation of mRNA metabolic process (GO:1903312)2.59494060
85viral mRNA export from host cell nucleus (GO:0046784)2.58969329
86desmosome organization (GO:0002934)2.57987969
87cysteine metabolic process (GO:0006534)2.57575138
88establishment of integrated proviral latency (GO:0075713)2.57392325
89regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.57205027
90protein localization to chromosome, centromeric region (GO:0071459)2.57146861
91snRNA metabolic process (GO:0016073)2.56693488
92oxidative phosphorylation (GO:0006119)2.56205425
93DNA replication checkpoint (GO:0000076)2.53658477
94regulation of plasminogen activation (GO:0010755)2.53200182
95mitotic sister chromatid cohesion (GO:0007064)2.53109064
96mRNA polyadenylation (GO:0006378)2.52727617
97protein retention in ER lumen (GO:0006621)2.50594163
98rRNA metabolic process (GO:0016072)2.49941816
99negative regulation of mRNA processing (GO:0050686)2.48899937
100aspartate family amino acid biosynthetic process (GO:0009067)2.47993588

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.83533762
2MYC_18555785_ChIP-Seq_MESCs_Mouse3.91714204
3AR_21909140_ChIP-Seq_LNCAP_Human3.71727570
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.69014693
5HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.02259242
6FOXM1_23109430_ChIP-Seq_U2OS_Human2.91361450
7MYC_18358816_ChIP-ChIP_MESCs_Mouse2.78377098
8ZNF263_19887448_ChIP-Seq_K562_Human2.76360971
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.69864957
10MYC_19079543_ChIP-ChIP_MESCs_Mouse2.68429435
11MYC_19030024_ChIP-ChIP_MESCs_Mouse2.68101614
12FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.60265483
13XRN2_22483619_ChIP-Seq_HELA_Human2.54730234
14MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.50586526
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.49034805
16GABP_17652178_ChIP-ChIP_JURKAT_Human2.42306016
17NELFA_20434984_ChIP-Seq_ESCs_Mouse2.34053426
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.33889244
19DCP1A_22483619_ChIP-Seq_HELA_Human2.27676335
20ETS1_20019798_ChIP-Seq_JURKAT_Human2.23234742
21MYCN_18555785_ChIP-Seq_MESCs_Mouse2.20506190
22E2F4_17652178_ChIP-ChIP_JURKAT_Human2.19968973
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.10738242
24ZFX_18555785_ChIP-Seq_MESCs_Mouse2.07632399
25TTF2_22483619_ChIP-Seq_HELA_Human1.98594844
26GABP_19822575_ChIP-Seq_HepG2_Human1.96977314
27DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.91664158
28E2F1_18555785_ChIP-Seq_MESCs_Mouse1.91530567
29POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.90141039
30THAP11_20581084_ChIP-Seq_MESCs_Mouse1.89596838
31EST1_17652178_ChIP-ChIP_JURKAT_Human1.86815926
32CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.81923190
33YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.76220831
34KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.74853107
35KDM5A_27292631_Chip-Seq_BREAST_Human1.74315425
36CHD1_26751641_Chip-Seq_LNCaP_Human1.71824524
37CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.69068927
38PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68917349
39KLF4_18555785_ChIP-Seq_MESCs_Mouse1.67375454
40E2F1_21310950_ChIP-Seq_MCF-7_Human1.66986530
41MYC_22102868_ChIP-Seq_BL_Human1.65966450
42PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.62698019
43NANOG_18555785_ChIP-Seq_MESCs_Mouse1.55768072
44ELF1_17652178_ChIP-ChIP_JURKAT_Human1.55624763
45PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.53025341
46BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.50909001
47STAT3_1855785_ChIP-Seq_MESCs_Mouse1.49824598
48CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.49717643
49CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.49338731
50EGR1_19374776_ChIP-ChIP_THP-1_Human1.48446439
51ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.47388565
52CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.41086574
53MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.39676168
54ESR1_15608294_ChIP-ChIP_MCF-7_Human1.39170078
55NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.37728240
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.37546868
57FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.36723258
58TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33345275
59FOXP3_21729870_ChIP-Seq_TREG_Human1.32612152
60ATF3_27146783_Chip-Seq_COLON_Human1.30926804
61HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.28872017
62SRF_21415370_ChIP-Seq_HL-1_Mouse1.27439626
63PADI4_21655091_ChIP-ChIP_MCF-7_Human1.27319013
64TFEB_21752829_ChIP-Seq_HELA_Human1.26174409
65CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.25424262
66PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.24477530
67TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.21987925
68ELK1_19687146_ChIP-ChIP_HELA_Human1.21709336
69VDR_23849224_ChIP-Seq_CD4+_Human1.21600177
70CIITA_25753668_ChIP-Seq_RAJI_Human1.20374536
71YY1_21170310_ChIP-Seq_MESCs_Mouse1.19879634
72ERG_20887958_ChIP-Seq_HPC-7_Mouse1.19657098
73RACK7_27058665_Chip-Seq_MCF-7_Human1.19458229
74SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.18622708
75TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.18482220
76E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.17883752
77HOXB4_20404135_ChIP-ChIP_EML_Mouse1.17819419
78SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.15012086
79TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.14187732
80ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.13715115
81SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.12729640
82NCOR1_26117541_ChIP-Seq_K562_Human1.12214355
83NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.10195705
84TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.09031236
85TBX5_21415370_ChIP-Seq_HL-1_Mouse1.08185372
86SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.07033975
87KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.04202046
88ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.03033111
89STAT6_21828071_ChIP-Seq_BEAS2B_Human1.00790510
90KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.99940787
91TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.99848161
92SOX17_20123909_ChIP-Seq_XEN_Mouse0.99558350
93SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.99390564
94SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.95789835
95ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.94688981
96POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.93975518
97CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.93228349
98TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.92152169
99SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.90378696
100ELK3_25401928_ChIP-Seq_HUVEC_Human0.89956269

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle4.39195016
2MP0004858_abnormal_nervous_system4.35452653
3MP0004957_abnormal_blastocyst_morpholog3.54674997
4MP0003111_abnormal_nucleus_morphology3.30007813
5MP0005451_abnormal_body_composition3.26391302
6MP0003705_abnormal_hypodermis_morpholog3.10972243
7MP0004233_abnormal_muscle_weight3.09684049
8MP0010094_abnormal_chromosome_stability3.08816272
9MP0003693_abnormal_embryo_hatching2.94698805
10MP0001661_extended_life_span2.79230266
11MP0009697_abnormal_copulation2.70202090
12MP0003077_abnormal_cell_cycle2.55435973
13MP0004185_abnormal_adipocyte_glucose2.47759468
14MP0003786_premature_aging2.37365862
15MP0008995_early_reproductive_senescence2.28824051
16MP0002877_abnormal_melanocyte_morpholog2.27386081
17MP0008058_abnormal_DNA_repair2.22879025
18MP0000537_abnormal_urethra_morphology2.21032225
19MP0005171_absent_coat_pigmentation2.10040768
20MP0008932_abnormal_embryonic_tissue2.07455928
21MP0003123_paternal_imprinting2.02970760
22MP0001730_embryonic_growth_arrest1.94157965
23MP0008007_abnormal_cellular_replicative1.70380247
24MP0000350_abnormal_cell_proliferation1.65770532
25MP0008057_abnormal_DNA_replication1.65471357
26MP0005408_hypopigmentation1.53946295
27MP0005076_abnormal_cell_differentiation1.48509941
28MP0006035_abnormal_mitochondrial_morpho1.46891723
29MP0002080_prenatal_lethality1.46181930
30MP0005666_abnormal_adipose_tissue1.43353913
31MP0005380_embryogenesis_phenotype1.39923897
32MP0001672_abnormal_embryogenesis/_devel1.39923897
33MP0001348_abnormal_lacrimal_gland1.38555123
34MP0005360_urolithiasis1.38176680
35MP0005670_abnormal_white_adipose1.34140337
36MP0003186_abnormal_redox_activity1.33879486
37MP0003718_maternal_effect1.33842256
38MP0003984_embryonic_growth_retardation1.29727645
39MP0001697_abnormal_embryo_size1.29087345
40MP0000358_abnormal_cell_content/1.26326675
41MP0005501_abnormal_skin_physiology1.25346257
42MP0002009_preneoplasia1.24830965
43MP0002088_abnormal_embryonic_growth/wei1.24514846
44MP0002086_abnormal_extraembryonic_tissu1.24248205
45MP0000747_muscle_weakness1.18023719
46MP0000627_abnormal_mammary_gland1.17307991
47MP0000678_abnormal_parathyroid_gland1.16832953
48MP0003315_abnormal_perineum_morphology1.16270672
49MP0004197_abnormal_fetal_growth/weight/1.09867057
50MP0006036_abnormal_mitochondrial_physio1.08835014
51MP0003656_abnormal_erythrocyte_physiolo1.08703170
52MP0003806_abnormal_nucleotide_metabolis1.08294641
53MP0005330_cardiomyopathy1.05682483
54MP0002084_abnormal_developmental_patter1.04094931
55MP0000313_abnormal_cell_death1.03079005
56MP0004264_abnormal_extraembryonic_tissu1.02208657
57MP0002085_abnormal_embryonic_tissue1.00952172
58MP0002796_impaired_skin_barrier0.99392658
59MP0001881_abnormal_mammary_gland0.98817696
60MP0003941_abnormal_skin_development0.98358348
61MP0010352_gastrointestinal_tract_polyps0.96260091
62MP0003221_abnormal_cardiomyocyte_apopto0.93861146
63MP0000377_abnormal_hair_follicle0.92560504
64MP0009672_abnormal_birth_weight0.89427704
65MP0002210_abnormal_sex_determination0.87512135
66MP0002060_abnormal_skin_morphology0.86916909
67MP0000003_abnormal_adipose_tissue0.85148920
68MP0005384_cellular_phenotype0.84825493
69MP0002938_white_spotting0.84255138
70MP0002269_muscular_atrophy0.83327224
71MP0000613_abnormal_salivary_gland0.81382185
72MP0010307_abnormal_tumor_latency0.80300423
73MP0002822_catalepsy0.78956406
74MP0001186_pigmentation_phenotype0.78589412
75MP0003942_abnormal_urinary_system0.78111753
76MP0005621_abnormal_cell_physiology0.78033866
77MP0004808_abnormal_hematopoietic_stem0.77677208
78MP0005375_adipose_tissue_phenotype0.77007126
79MP0001145_abnormal_male_reproductive0.76193802
80MP0001216_abnormal_epidermal_layer0.75279240
81MP0005187_abnormal_penis_morphology0.74072274
82MP0002249_abnormal_larynx_morphology0.73228937
83MP0000733_abnormal_muscle_development0.72382388
84MP0000647_abnormal_sebaceous_gland0.70975978
85MP0002970_abnormal_white_adipose0.70795207
86MP0001764_abnormal_homeostasis0.70707547
87MP0002160_abnormal_reproductive_system0.70316592
88MP0002075_abnormal_coat/hair_pigmentati0.69902920
89MP0001919_abnormal_reproductive_system0.69097811
90MP0010030_abnormal_orbit_morphology0.67932562
91MP0002396_abnormal_hematopoietic_system0.67071708
92MP0000534_abnormal_ureter_morphology0.66708841
93MP0005647_abnormal_sex_gland0.66599939
94MP0008260_abnormal_autophagy0.65999700
95MP0005257_abnormal_intraocular_pressure0.65584017
96MP0005058_abnormal_lysosome_morphology0.64939660
97MP0001849_ear_inflammation0.64930710
98MP0004147_increased_porphyrin_level0.64897021
99MP0001929_abnormal_gametogenesis0.64778813
100MP0009053_abnormal_anal_canal0.62863963

Predicted human phenotypes

RankGene SetZ-score
1Cholecystitis (HP:0001082)3.70839362
2Abnormal gallbladder physiology (HP:0012438)3.70839362
3Abnormality of glycolysis (HP:0004366)3.69088234
4Abnormality of the distal phalanges of the toes (HP:0010182)3.58936929
5Sparse lateral eyebrow (HP:0005338)3.51093742
6Entropion (HP:0000621)3.39505183
7Abnormality of homocysteine metabolism (HP:0010919)3.31826026
8Homocystinuria (HP:0002156)3.31826026
9Reduced subcutaneous adipose tissue (HP:0003758)3.20224224
10Abnormality of the umbilical cord (HP:0010881)3.11172900
11Birth length less than 3rd percentile (HP:0003561)3.08217246
12Progressive muscle weakness (HP:0003323)3.00536480
13Chromosomal breakage induced by crosslinking agents (HP:0003221)2.86194022
14Testicular atrophy (HP:0000029)2.84410208
15Increased serum pyruvate (HP:0003542)2.83122028
16Short nail (HP:0001799)2.82989277
17Upper limb muscle weakness (HP:0003484)2.70294171
18Insomnia (HP:0100785)2.69266037
19Spastic paraparesis (HP:0002313)2.66285785
20Progressive external ophthalmoplegia (HP:0000590)2.62093360
21Cholelithiasis (HP:0001081)2.60021449
22Long palpebral fissure (HP:0000637)2.51951737
23Chromsome breakage (HP:0040012)2.45585705
24Ragged-red muscle fibers (HP:0003200)2.44546168
25Rough bone trabeculation (HP:0100670)2.37753067
26Trismus (HP:0000211)2.36965046
27Reticulocytosis (HP:0001923)2.36385610
28Ankyloglossia (HP:0010296)2.34722015
29Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.32988614
30Abnormality of alanine metabolism (HP:0010916)2.32988614
31Hyperalaninemia (HP:0003348)2.32988614
32Glossoptosis (HP:0000162)2.31849825
33Multiple enchondromatosis (HP:0005701)2.31395647
34Dysmetric saccades (HP:0000641)2.28902054
35Premature rupture of membranes (HP:0001788)2.26744031
36Abnormal gallbladder morphology (HP:0012437)2.26116964
37Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.22752732
38Abnormality of the gallbladder (HP:0005264)2.22640406
39Ureteral duplication (HP:0000073)2.21457879
40Paraparesis (HP:0002385)2.20863533
41Hyperacusis (HP:0010780)2.20319473
42Breast hypoplasia (HP:0003187)2.18751324
43Abnormality of reticulocytes (HP:0004312)2.18190416
44Disproportionate tall stature (HP:0001519)2.17459307
45Truncus arteriosus (HP:0001660)2.16995630
46Abnormalities of placenta or umbilical cord (HP:0001194)2.14070045
47Hyperthyroidism (HP:0000836)2.12266780
48Abnormality of sulfur amino acid metabolism (HP:0004339)2.11137570
49Advanced eruption of teeth (HP:0006288)2.08404112
50Diaphragmatic weakness (HP:0009113)2.08094528
51Abnormal trabecular bone morphology (HP:0100671)2.07276658
52Submucous cleft hard palate (HP:0000176)2.04349179
53Patchy hypopigmentation of hair (HP:0011365)2.03841111
54Termporal pattern (HP:0011008)2.03170137
55Insidious onset (HP:0003587)2.03170137
56Premature ovarian failure (HP:0008209)1.99039291
57Unilateral renal agenesis (HP:0000122)1.95782535
58Biconcave vertebral bodies (HP:0004586)1.94703674
59Cerebral hypomyelination (HP:0006808)1.94393203
60Abnormal umbilical cord blood vessels (HP:0011403)1.93521746
61Single umbilical artery (HP:0001195)1.93521746
62Abnormality of the fetal cardiovascular system (HP:0010948)1.93521746
63Abnormality of the preputium (HP:0100587)1.93114492
64Fatigue (HP:0012378)1.92465637
65Sparse eyelashes (HP:0000653)1.91381831
66Bowel incontinence (HP:0002607)1.89877672
67Progressive hearing impairment (HP:0001730)1.89204186
68Seborrheic dermatitis (HP:0001051)1.87033343
69Cortical dysplasia (HP:0002539)1.84356827
70Osteolytic defects of the phalanges of the hand (HP:0009771)1.84206327
71Osteolytic defects of the hand bones (HP:0009699)1.84206327
72Achilles tendon contracture (HP:0001771)1.83438900
73Glucose intolerance (HP:0000833)1.83105971
74Abnormal large intestine physiology (HP:0012700)1.82487200
75White forelock (HP:0002211)1.82216992
76Hyperammonemia (HP:0001987)1.80324148
77Megaloblastic anemia (HP:0001889)1.80254811
78Reticulocytopenia (HP:0001896)1.79778341
79Secondary amenorrhea (HP:0000869)1.79504025
80Abnormality of fatty-acid metabolism (HP:0004359)1.79092488
81Abnormality of subcutaneous fat tissue (HP:0001001)1.78652514
82Urethral obstruction (HP:0000796)1.76710496
83Cutaneous melanoma (HP:0012056)1.76671174
84Vertebral compression fractures (HP:0002953)1.76409582
85Microvesicular hepatic steatosis (HP:0001414)1.74642804
86Short clavicles (HP:0000894)1.72140868
87Hypoparathyroidism (HP:0000829)1.69869578
88Pili torti (HP:0003777)1.69412716
89Esophageal neoplasm (HP:0100751)1.69040424
90Neoplasm of head and neck (HP:0012288)1.69040424
91Abnormality of the tricuspid valve (HP:0001702)1.67570300
92Premature graying of hair (HP:0002216)1.67027766
93Slender long bone (HP:0003100)1.66381443
94Postnatal microcephaly (HP:0005484)1.66114580
95Increased nuchal translucency (HP:0010880)1.65754603
96Brittle hair (HP:0002299)1.65040861
97Myopathic facies (HP:0002058)1.64799866
98Hypergonadotropic hypogonadism (HP:0000815)1.63583076
99Abnormality of oral frenula (HP:0000190)1.62985252
100Patellar dislocation (HP:0002999)1.61090549

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK14.32408100
2PRKD33.99568242
3EEF2K3.55981521
4IRAK33.00426384
5ICK2.78366918
6SMG12.72524643
7NME22.56609623
8AKT32.53033216
9EPHA22.51403466
10BUB12.40467465
11TSSK62.38047405
12NEK12.26721894
13PBK2.26127270
14TRIB32.19332971
15EIF2AK32.17685240
16MST1R2.16301601
17MST42.12193082
18CDK121.98638389
19PAK41.96156885
20WEE11.93614613
21SCYL21.84908575
22RPS6KB21.68507818
23TTK1.53526785
24SRPK11.51625360
25ERBB41.44124296
26WNK41.42752067
27BRSK11.42104146
28MAP3K31.37314020
29SIK11.32964635
30CDK71.30744035
31LATS21.29585773
32VRK21.24773794
33LMTK21.23145026
34CAMK1D1.19125919
35CDC71.18472137
36MET1.17653681
37MAP3K81.16809941
38PKN21.14880799
39TAF11.12594308
40BRSK21.07096350
41NEK20.98049298
42CDK90.93642582
43KSR20.92873368
44BRD40.89632071
45CHEK20.89044423
46MTOR0.87352729
47MAP3K20.86526964
48TAOK20.85212652
49CDK80.84137078
50MAPKAPK30.81265681
51AKT20.81258317
52NME10.80740955
53MAP2K30.78888254
54BRAF0.76596802
55ARAF0.76081678
56DYRK30.75753925
57STK160.75331324
58AURKA0.75322700
59PTK60.74510381
60RAF10.73616184
61STK390.70416989
62CHEK10.69770411
63EIF2AK20.69117111
64CCNB10.68674821
65CAMK1G0.64783217
66PRKD20.64143521
67ATR0.63396328
68SIK30.62177022
69LRRK20.61803002
70PTK20.60537127
71NTRK10.58194183
72ILK0.56852756
73PNCK0.54337694
74AURKB0.53569400
75CDK60.52042675
76KSR10.52037805
77MAP3K90.52019010
78PLK30.50747089
79STK100.50205716
80FLT30.49998869
81IRAK20.49927578
82PRKCI0.48879458
83PAK20.47749947
84PLK10.46834792
85PASK0.44828828
86FER0.43687422
87ALK0.43444289
88PDGFRA0.40945814
89CDK10.40728483
90PIM20.40497727
91CDK20.39446104
92CSNK2A20.37844652
93CSNK1E0.35539862
94ATM0.32820799
95WNK10.31667239
96TRIM280.28785582
97STK40.27951908
98CDK40.27612057
99ERN10.26702519
100BMPR20.26298419

Predicted pathways (KEGG)

RankGene SetZ-score
1Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009703.83632793
2DNA replication_Homo sapiens_hsa030302.91288963
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.85464273
4Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.80288051
5One carbon pool by folate_Homo sapiens_hsa006702.73898369
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.66271985
7Biosynthesis of amino acids_Homo sapiens_hsa012302.65495496
8RNA transport_Homo sapiens_hsa030132.34412578
9Spliceosome_Homo sapiens_hsa030402.17588137
10Proteasome_Homo sapiens_hsa030502.15408915
11Mismatch repair_Homo sapiens_hsa034302.13792940
12Nucleotide excision repair_Homo sapiens_hsa034202.07869449
13Cysteine and methionine metabolism_Homo sapiens_hsa002701.94868322
14mRNA surveillance pathway_Homo sapiens_hsa030151.86482204
15Carbon metabolism_Homo sapiens_hsa012001.86409907
16Vitamin B6 metabolism_Homo sapiens_hsa007501.86105510
17Base excision repair_Homo sapiens_hsa034101.81944369
18Ribosome_Homo sapiens_hsa030101.76913548
19Pyruvate metabolism_Homo sapiens_hsa006201.75831224
20Pentose phosphate pathway_Homo sapiens_hsa000301.62798641
21Cell cycle_Homo sapiens_hsa041101.62631863
22Selenocompound metabolism_Homo sapiens_hsa004501.60425132
23Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.60338917
24RNA polymerase_Homo sapiens_hsa030201.59184204
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.56892256
26Fructose and mannose metabolism_Homo sapiens_hsa000511.56524980
27Basal transcription factors_Homo sapiens_hsa030221.54433772
28Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.48255966
29Arginine and proline metabolism_Homo sapiens_hsa003301.47155259
30Sulfur relay system_Homo sapiens_hsa041221.46870054
31Pyrimidine metabolism_Homo sapiens_hsa002401.44667600
32Thyroid cancer_Homo sapiens_hsa052161.40619828
33Phenylalanine metabolism_Homo sapiens_hsa003601.34703573
34Arginine biosynthesis_Homo sapiens_hsa002201.29380260
35Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.23594874
36Fatty acid biosynthesis_Homo sapiens_hsa000611.23075108
37Cyanoamino acid metabolism_Homo sapiens_hsa004601.18872376
38Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.17885265
39Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.17365558
40Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.17256150
41Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.08362827
42Non-homologous end-joining_Homo sapiens_hsa034501.07759278
43RNA degradation_Homo sapiens_hsa030181.05473198
44Homologous recombination_Homo sapiens_hsa034401.04949987
45Fanconi anemia pathway_Homo sapiens_hsa034600.97810331
46Sulfur metabolism_Homo sapiens_hsa009200.96243807
47Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.93135777
48Pentose and glucuronate interconversions_Homo sapiens_hsa000400.89596484
49Protein export_Homo sapiens_hsa030600.87350281
50Prion diseases_Homo sapiens_hsa050200.85910322
51Folate biosynthesis_Homo sapiens_hsa007900.84929808
52Central carbon metabolism in cancer_Homo sapiens_hsa052300.81498400
53Glutathione metabolism_Homo sapiens_hsa004800.79964496
54N-Glycan biosynthesis_Homo sapiens_hsa005100.75168892
55Vibrio cholerae infection_Homo sapiens_hsa051100.74729485
56p53 signaling pathway_Homo sapiens_hsa041150.74273459
57Galactose metabolism_Homo sapiens_hsa000520.74221829
58Lysine degradation_Homo sapiens_hsa003100.72900867
59Chronic myeloid leukemia_Homo sapiens_hsa052200.72894819
60Prostate cancer_Homo sapiens_hsa052150.71090835
61Purine metabolism_Homo sapiens_hsa002300.70667690
62Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.69053121
63Bladder cancer_Homo sapiens_hsa052190.65716642
64Fatty acid metabolism_Homo sapiens_hsa012120.64870145
65Vitamin digestion and absorption_Homo sapiens_hsa049770.63332276
66Oocyte meiosis_Homo sapiens_hsa041140.62797625
67Tyrosine metabolism_Homo sapiens_hsa003500.60020260
68Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.58954658
69Insulin signaling pathway_Homo sapiens_hsa049100.57424953
70mTOR signaling pathway_Homo sapiens_hsa041500.54899965
71Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.51069393
72Endometrial cancer_Homo sapiens_hsa052130.49620662
73Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.48586275
74AMPK signaling pathway_Homo sapiens_hsa041520.48468248
75Metabolic pathways_Homo sapiens_hsa011000.47571099
76Fatty acid elongation_Homo sapiens_hsa000620.44704940
77Non-small cell lung cancer_Homo sapiens_hsa052230.44142889
78Epstein-Barr virus infection_Homo sapiens_hsa051690.43917231
79Drug metabolism - other enzymes_Homo sapiens_hsa009830.43907601
80Huntingtons disease_Homo sapiens_hsa050160.41998037
81ErbB signaling pathway_Homo sapiens_hsa040120.41660281
82Propanoate metabolism_Homo sapiens_hsa006400.39830273
83Small cell lung cancer_Homo sapiens_hsa052220.39027282
84Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.37687652
85MicroRNAs in cancer_Homo sapiens_hsa052060.37656487
86Viral carcinogenesis_Homo sapiens_hsa052030.37136809
87Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34977171
88Adherens junction_Homo sapiens_hsa045200.34767542
89Parkinsons disease_Homo sapiens_hsa050120.33601710
90Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.33206340
91Pancreatic cancer_Homo sapiens_hsa052120.33108030
92Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.29889276
93Renal cell carcinoma_Homo sapiens_hsa052110.27425112
94Glioma_Homo sapiens_hsa052140.27186926
95Steroid biosynthesis_Homo sapiens_hsa001000.27043538
96beta-Alanine metabolism_Homo sapiens_hsa004100.25310088
97HIF-1 signaling pathway_Homo sapiens_hsa040660.24677896
98Thyroid hormone signaling pathway_Homo sapiens_hsa049190.24315159
99VEGF signaling pathway_Homo sapiens_hsa043700.23330804
100Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.20638275

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