GAGE1

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 belongs to a family of genes that are expressed in a variety of tumors but not in normal tissues, except for the testis. The sequences of the family members are highly related but differ by scattered nucleotide substitutions. The antigenic peptide YRPRPRRY, which is also encoded by several other family members, is recognized by autologous cytolytic T lymphocytes. Nothing is presently known about the function of this protein. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)6.80583872
2nuclear pore organization (GO:0006999)6.00986604
3DNA replication checkpoint (GO:0000076)5.55689688
4regulation of translational fidelity (GO:0006450)5.43877594
5pore complex assembly (GO:0046931)5.10581487
6formation of translation preinitiation complex (GO:0001731)4.90583489
7diterpenoid biosynthetic process (GO:0016102)4.84292576
8gas transport (GO:0015669)4.66442265
9mitotic nuclear envelope disassembly (GO:0007077)4.58824993
10synapsis (GO:0007129)4.52525678
11DNA unwinding involved in DNA replication (GO:0006268)4.48881029
12DNA replication initiation (GO:0006270)4.48502871
13protoporphyrinogen IX metabolic process (GO:0046501)4.47768815
14oxygen transport (GO:0015671)4.46826651
15oxidative phosphorylation (GO:0006119)4.43094890
16homocysteine metabolic process (GO:0050667)4.41059580
17terpenoid biosynthetic process (GO:0016114)4.39499580
18mitotic sister chromatid segregation (GO:0000070)4.24198179
19nuclear envelope disassembly (GO:0051081)4.21624071
20membrane disassembly (GO:0030397)4.21624071
21resolution of meiotic recombination intermediates (GO:0000712)4.17914702
22tRNA aminoacylation for protein translation (GO:0006418)4.17281192
23DNA strand elongation involved in DNA replication (GO:0006271)4.15448626
24purine nucleobase biosynthetic process (GO:0009113)4.07732712
25sister chromatid segregation (GO:0000819)4.04457206
26DNA strand elongation (GO:0022616)4.04237097
27amino acid activation (GO:0043038)4.03533999
28tRNA aminoacylation (GO:0043039)4.03533999
29protoporphyrinogen IX biosynthetic process (GO:0006782)3.98269800
30regulation of histone H3-K4 methylation (GO:0051569)3.88983118
31DNA topological change (GO:0006265)3.88935107
32regulation of histone H3-K27 methylation (GO:0061085)3.84860360
33IMP biosynthetic process (GO:0006188)3.79578839
34mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.76399370
35nucleobase biosynthetic process (GO:0046112)3.73271340
36folic acid-containing compound biosynthetic process (GO:0009396)3.69826541
37telomere maintenance via semi-conservative replication (GO:0032201)3.66710616
38regulation of RNA export from nucleus (GO:0046831)3.65891965
39ribosomal large subunit biogenesis (GO:0042273)3.64250145
40regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.55211040
41meiotic chromosome segregation (GO:0045132)3.52393575
42proline biosynthetic process (GO:0006561)3.51708468
43oxaloacetate metabolic process (GO:0006107)3.51139807
44regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.49676579
45ribosome biogenesis (GO:0042254)3.47947198
46maturation of 5.8S rRNA (GO:0000460)3.46020457
47proteasome assembly (GO:0043248)3.45005387
48ribosome assembly (GO:0042255)3.42748572
49regulation of translational elongation (GO:0006448)3.41269567
50mitotic chromosome condensation (GO:0007076)3.32856564
51ribonucleoprotein complex biogenesis (GO:0022613)3.32474846
52IMP metabolic process (GO:0046040)3.27770021
53ATP synthesis coupled proton transport (GO:0015986)3.24923277
54energy coupled proton transport, down electrochemical gradient (GO:0015985)3.24923277
55regulation of mitotic spindle organization (GO:0060236)3.22445991
56telomere maintenance via recombination (GO:0000722)3.20875468
57tetrahydrofolate metabolic process (GO:0046653)3.20164296
58mitotic recombination (GO:0006312)3.19936487
59chromosome segregation (GO:0007059)3.19471721
60erythrocyte maturation (GO:0043249)3.15626832
61maturation of SSU-rRNA (GO:0030490)3.10058787
62nuclear envelope organization (GO:0006998)3.06938498
63vitamin A metabolic process (GO:0006776)3.06215171
64regulation of nucleobase-containing compound transport (GO:0032239)3.01884863
65mitotic metaphase plate congression (GO:0007080)2.97928890
66nucleobase-containing small molecule interconversion (GO:0015949)2.97196781
67DNA methylation involved in gamete generation (GO:0043046)2.95519641
68microtubule depolymerization (GO:0007019)2.94685151
69midgut development (GO:0007494)2.94250369
70COPI coating of Golgi vesicle (GO:0048205)2.94244046
71Golgi transport vesicle coating (GO:0048200)2.94244046
72ribosomal small subunit assembly (GO:0000028)2.93898854
73aerobic respiration (GO:0009060)2.92061679
74rRNA methylation (GO:0031167)2.89013242
75translational initiation (GO:0006413)2.87442036
76intra-S DNA damage checkpoint (GO:0031573)2.87246359
77protein localization to kinetochore (GO:0034501)2.84414238
78purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.84062533
79purine nucleoside monophosphate biosynthetic process (GO:0009127)2.84062533
80ribosomal small subunit biogenesis (GO:0042274)2.81956495
81succinate metabolic process (GO:0006105)2.78239973
82translational termination (GO:0006415)2.77273262
83viral transcription (GO:0019083)2.76706031
84rRNA modification (GO:0000154)2.76129716
85protein export from nucleus (GO:0006611)2.75496663
86regulation of centrosome cycle (GO:0046605)2.75079252
87pseudouridine synthesis (GO:0001522)2.74179579
88heme biosynthetic process (GO:0006783)2.72319743
89creatine metabolic process (GO:0006600)2.70175918
90telomere maintenance via telomere lengthening (GO:0010833)2.69952039
91regulation of histone methylation (GO:0031060)2.69409775
92response to vitamin A (GO:0033189)2.68872753
93kinetochore organization (GO:0051383)2.66782142
94chromosome organization involved in meiosis (GO:0070192)2.66322562
95positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.65614349
96DNA conformation change (GO:0071103)2.65045882
97pteridine-containing compound biosynthetic process (GO:0042559)2.64965067
98porphyrin-containing compound biosynthetic process (GO:0006779)2.64881394
99tricarboxylic acid cycle (GO:0006099)2.64715284
100DNA catabolic process, exonucleolytic (GO:0000738)2.63311059

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.38222423
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.92428030
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.69013817
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.56267439
5E2F4_17652178_ChIP-ChIP_JURKAT_Human3.52502831
6FOXM1_23109430_ChIP-Seq_U2OS_Human3.43235176
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.42370007
8EST1_17652178_ChIP-ChIP_JURKAT_Human2.97971343
9JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.92611453
10CREB1_15753290_ChIP-ChIP_HEK293T_Human2.91192382
11ETS1_20019798_ChIP-Seq_JURKAT_Human2.86719841
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.86452430
13FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.81172782
14MYC_18358816_ChIP-ChIP_MESCs_Mouse2.71283844
15MYC_19079543_ChIP-ChIP_MESCs_Mouse2.64312192
16MYC_19030024_ChIP-ChIP_MESCs_Mouse2.51773249
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.51234164
18XRN2_22483619_ChIP-Seq_HELA_Human2.43475305
19ELF1_17652178_ChIP-ChIP_JURKAT_Human2.36097488
20DCP1A_22483619_ChIP-Seq_HELA_Human2.24417021
21MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.22187194
22NCOR1_26117541_ChIP-Seq_K562_Human2.20568366
23CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.17343258
24THAP11_20581084_ChIP-Seq_MESCs_Mouse2.15506524
25ELK1_19687146_ChIP-ChIP_HELA_Human2.10066029
26TTF2_22483619_ChIP-Seq_HELA_Human2.05058481
27NELFA_20434984_ChIP-Seq_ESCs_Mouse2.02480195
28YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.96490457
29POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.94768683
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.92523213
31E2F1_21310950_ChIP-Seq_MCF-7_Human1.89986442
32FOXP3_21729870_ChIP-Seq_TREG_Human1.88226801
33KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.88005914
34AR_21909140_ChIP-Seq_LNCAP_Human1.84670002
35KDM5A_27292631_Chip-Seq_BREAST_Human1.82825565
36SRF_21415370_ChIP-Seq_HL-1_Mouse1.82341031
37VDR_23849224_ChIP-Seq_CD4+_Human1.81456143
38MYCN_18555785_ChIP-Seq_MESCs_Mouse1.80803075
39E2F1_18555785_ChIP-Seq_MESCs_Mouse1.80388331
40MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.80304839
41PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.73250445
42HOXB4_20404135_ChIP-ChIP_EML_Mouse1.72368706
43GABP_19822575_ChIP-Seq_HepG2_Human1.71970970
44PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.68570700
45GATA1_19941826_ChIP-Seq_K562_Human1.68529669
46ZNF263_19887448_ChIP-Seq_K562_Human1.64174620
47SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.55236963
48ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.54198823
49FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.52898150
50PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.52532663
51HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.51411745
52ZFX_18555785_ChIP-Seq_MESCs_Mouse1.49238132
53YY1_21170310_ChIP-Seq_MESCs_Mouse1.40106791
54NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.39809591
55PADI4_21655091_ChIP-ChIP_MCF-7_Human1.39421477
56CIITA_25753668_ChIP-Seq_RAJI_Human1.38260421
57MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.37117849
58GATA1_22025678_ChIP-Seq_K562_Human1.36930669
59CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.36813922
60SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.35589239
61CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.35168324
62NANOG_18555785_ChIP-Seq_MESCs_Mouse1.32858152
63TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.29761714
64BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.27251035
65GATA2_19941826_ChIP-Seq_K562_Human1.26976475
66CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.25169344
67TFEB_21752829_ChIP-Seq_HELA_Human1.22794552
68STAT3_1855785_ChIP-Seq_MESCs_Mouse1.22439459
69CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.19260881
70CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.15807759
71PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.14962945
72FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.13299515
73CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.13140316
74KLF4_18555785_ChIP-Seq_MESCs_Mouse1.12780706
75RBPJ_22232070_ChIP-Seq_NCS_Mouse1.10394767
76ERG_20887958_ChIP-Seq_HPC-7_Mouse1.08027253
77HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.05385826
78SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.03765180
79MYC_22102868_ChIP-Seq_BL_Human1.02739648
80ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.01267328
81CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.98578550
82E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.97940795
83TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.97102862
84GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.95532143
85CHD1_26751641_Chip-Seq_LNCaP_Human0.95109661
86DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.94814691
87MYC_18940864_ChIP-ChIP_HL60_Human0.93730777
88CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.93693496
89GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.91879098
90GATA6_21074721_ChIP-Seq_CACO-2_Human0.91626223
91SPI1_23127762_ChIP-Seq_K562_Human0.90471703
92SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.89311867
93SALL1_21062744_ChIP-ChIP_HESCs_Human0.88896528
94TBX5_21415370_ChIP-Seq_HL-1_Mouse0.87972396
95TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.82951523
96PHF8_20622853_ChIP-Seq_HELA_Human0.82221648
97CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.80860800
98RBPJ_21746931_ChIP-Seq_IB4_Human0.80448389
99CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.78583870
100HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.77543185

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level4.64736226
2MP0004957_abnormal_blastocyst_morpholog4.32099933
3MP0008995_early_reproductive_senescence4.18932716
4MP0008058_abnormal_DNA_repair4.01822919
5MP0010094_abnormal_chromosome_stability3.81949582
6MP0003111_abnormal_nucleus_morphology3.75302070
7MP0003693_abnormal_embryo_hatching3.63521424
8MP0009697_abnormal_copulation3.11499904
9MP0005451_abnormal_body_composition2.92775422
10MP0003786_premature_aging2.91120265
11MP0008932_abnormal_embryonic_tissue2.81406567
12MP0008057_abnormal_DNA_replication2.81069336
13MP0003077_abnormal_cell_cycle2.72221800
14MP0000678_abnormal_parathyroid_gland2.43005965
15MP0008007_abnormal_cellular_replicative2.40097474
16MP0003656_abnormal_erythrocyte_physiolo2.39617908
17MP0005083_abnormal_biliary_tract2.33888608
18MP0003806_abnormal_nucleotide_metabolis2.29662803
19MP0006036_abnormal_mitochondrial_physio2.10632293
20MP0003718_maternal_effect2.09974159
21MP0003186_abnormal_redox_activity2.07000407
22MP0000372_irregular_coat_pigmentation2.05359336
23MP0006035_abnormal_mitochondrial_morpho2.03974241
24MP0005171_absent_coat_pigmentation1.83426709
25MP0001730_embryonic_growth_arrest1.79047198
26MP0004145_abnormal_muscle_electrophysio1.78819782
27MP0002132_abnormal_respiratory_system1.72588766
28MP0004233_abnormal_muscle_weight1.71279308
29MP0005408_hypopigmentation1.68094978
30MP0000350_abnormal_cell_proliferation1.64327293
31MP0001697_abnormal_embryo_size1.63991003
32MP0001661_extended_life_span1.60806010
33MP0002396_abnormal_hematopoietic_system1.53876529
34MP0001545_abnormal_hematopoietic_system1.49413471
35MP0005397_hematopoietic_system_phenotyp1.49413471
36MP0002080_prenatal_lethality1.46591714
37MP0002210_abnormal_sex_determination1.44638267
38MP0000313_abnormal_cell_death1.43250548
39MP0001929_abnormal_gametogenesis1.42918335
40MP0005380_embryogenesis_phenotype1.42209671
41MP0001672_abnormal_embryogenesis/_devel1.42209671
42MP0010307_abnormal_tumor_latency1.40437841
43MP0003959_abnormal_lean_body1.33980321
44MP0003984_embryonic_growth_retardation1.32559873
45MP0000358_abnormal_cell_content/1.32044724
46MP0008775_abnormal_heart_ventricle1.31774175
47MP0004084_abnormal_cardiac_muscle1.28820144
48MP0002088_abnormal_embryonic_growth/wei1.28257722
49MP0002086_abnormal_extraembryonic_tissu1.21257166
50MP0005636_abnormal_mineral_homeostasis1.20955667
51MP0001881_abnormal_mammary_gland1.16150461
52MP0001764_abnormal_homeostasis1.12442253
53MP0001727_abnormal_embryo_implantation1.07585416
54MP0005410_abnormal_fertilization1.05341659
55MP0003698_abnormal_male_reproductive1.01776620
56MP0001145_abnormal_male_reproductive1.01192663
57MP0000653_abnormal_sex_gland0.98213609
58MP0002084_abnormal_developmental_patter0.94075623
59MP0002019_abnormal_tumor_incidence0.92493822
60MP0002085_abnormal_embryonic_tissue0.91865014
61MP0003646_muscle_fatigue0.91649870
62MP0004808_abnormal_hematopoietic_stem0.86672914
63MP0003699_abnormal_female_reproductive0.85626586
64MP0003221_abnormal_cardiomyocyte_apopto0.85412411
65MP0005332_abnormal_amino_acid0.85196091
66MP0002161_abnormal_fertility/fecundity0.80464266
67MP0000609_abnormal_liver_physiology0.80432043
68MP0002877_abnormal_melanocyte_morpholog0.79728914
69MP0002269_muscular_atrophy0.78895584
70MP0004036_abnormal_muscle_relaxation0.78326981
71MP0003385_abnormal_body_wall0.77857183
72MP0002095_abnormal_skin_pigmentation0.77344590
73MP0008770_decreased_survivor_rate0.74974016
74MP0001873_stomach_inflammation0.74660638
75MP0000647_abnormal_sebaceous_gland0.70699105
76MP0000703_abnormal_thymus_morphology0.70310565
77MP0004197_abnormal_fetal_growth/weight/0.65123439
78MP0003950_abnormal_plasma_membrane0.64238949
79MP0009931_abnormal_skin_appearance0.64045351
80MP0000598_abnormal_liver_morphology0.63361865
81MP0009333_abnormal_splenocyte_physiolog0.62680833
82MP0005266_abnormal_metabolism0.62221267
83MP0000747_muscle_weakness0.60914372
84MP0006292_abnormal_olfactory_placode0.60484908
85MP0001529_abnormal_vocalization0.59388491
86MP0001119_abnormal_female_reproductive0.59192678
87MP0000681_abnormal_thyroid_gland0.57520901
88MP0002009_preneoplasia0.56594064
89MP0005384_cellular_phenotype0.56354086
90MP0002970_abnormal_white_adipose0.55892084
91MP0005330_cardiomyopathy0.55835697
92MP0002249_abnormal_larynx_morphology0.55327717
93MP0009703_decreased_birth_body0.53379572
94MP0002722_abnormal_immune_system0.52987820
95MP0001502_abnormal_circadian_rhythm0.52748719
96MP0009672_abnormal_birth_weight0.51819037
97MP0001544_abnormal_cardiovascular_syste0.50233793
98MP0005385_cardiovascular_system_phenoty0.50233793
99MP0009278_abnormal_bone_marrow0.50187865
100MP0003937_abnormal_limbs/digits/tail_de0.48888051

Predicted human phenotypes

RankGene SetZ-score
1Cholecystitis (HP:0001082)7.17267043
2Abnormal gallbladder physiology (HP:0012438)7.17267043
3Truncus arteriosus (HP:0001660)5.51646851
4Reticulocytosis (HP:0001923)5.28697311
5Abnormal hemoglobin (HP:0011902)4.74747858
6Abnormality of the heme biosynthetic pathway (HP:0010472)4.71109537
7Hyperthyroidism (HP:0000836)4.67358899
8Abnormality of reticulocytes (HP:0004312)4.60826172
9Birth length less than 3rd percentile (HP:0003561)4.37647598
10Polycythemia (HP:0001901)3.93636625
11Ileus (HP:0002595)3.88402910
12Abnormality of glycolysis (HP:0004366)3.81995149
13Ankyloglossia (HP:0010296)3.76115261
14Chromsome breakage (HP:0040012)3.65786891
15Abnormality of homocysteine metabolism (HP:0010919)3.59981085
16Homocystinuria (HP:0002156)3.59981085
17Chromosomal breakage induced by crosslinking agents (HP:0003221)3.56546406
18Hypertensive crisis (HP:0100735)3.54966718
19Cholelithiasis (HP:0001081)3.53463737
20Increased serum pyruvate (HP:0003542)3.50135950
21Pallor (HP:0000980)3.47176297
22Bowel incontinence (HP:0002607)3.46483379
23Seborrheic dermatitis (HP:0001051)3.44649950
24Abnormal large intestine physiology (HP:0012700)3.35101485
25Reticulocytopenia (HP:0001896)3.17542657
26Upper limb muscle weakness (HP:0003484)3.15164734
27Abnormal gallbladder morphology (HP:0012437)3.13462689
28Hypoparathyroidism (HP:0000829)3.06307414
29Abnormality of the tricuspid valve (HP:0001702)3.01104091
30Poikilocytosis (HP:0004447)2.91587175
31Cortical dysplasia (HP:0002539)2.89847330
32Abnormality of cochlea (HP:0000375)2.88085344
33Acute encephalopathy (HP:0006846)2.80952218
34Acute myeloid leukemia (HP:0004808)2.66097762
35Tinnitus (HP:0000360)2.56352655
36Abnormality of oral frenula (HP:0000190)2.54828636
37Atelectasis (HP:0100750)2.53861344
38Abnormal mitochondria in muscle tissue (HP:0008316)2.53730982
39Hyperbilirubinemia (HP:0002904)2.53518986
40Acute necrotizing encephalopathy (HP:0006965)2.51497493
41Abnormality of sulfur amino acid metabolism (HP:0004339)2.51312217
42Abnormality of the gallbladder (HP:0005264)2.50530801
43Duplicated collecting system (HP:0000081)2.42103976
44Nonimmune hydrops fetalis (HP:0001790)2.36644156
45Morphological abnormality of the inner ear (HP:0011390)2.36559700
46Cerebral hypomyelination (HP:0006808)2.36002815
47Abnormality of the preputium (HP:0100587)2.32718727
48Abnormality of cells of the erythroid lineage (HP:0012130)2.28873628
49Myelodysplasia (HP:0002863)2.27823643
50Short middle phalanx of the 5th finger (HP:0004220)2.26810993
51Macrocytic anemia (HP:0001972)2.26810737
52Aplasia/Hypoplasia of the earlobes (HP:0009906)2.25827690
53Increased CSF lactate (HP:0002490)2.22798848
54Abnormal number of erythroid precursors (HP:0012131)2.18333844
55Abnormally folded helix (HP:0008544)2.14558151
56Aplasia/Hypoplasia of the thymus (HP:0010515)2.11893211
57Cerebral edema (HP:0002181)2.08332771
58Overlapping toe (HP:0001845)2.07346415
59Abnormality of the renal collecting system (HP:0004742)2.06835070
60Acanthocytosis (HP:0001927)2.06212288
61Orthostatic hypotension (HP:0001278)2.05043816
62Aplasia/Hypoplasia of the uvula (HP:0010293)2.04845211
63Premature ovarian failure (HP:0008209)2.04073673
64Progressive macrocephaly (HP:0004481)2.02716011
65Abnormality of chromosome stability (HP:0003220)2.02162822
66Abnormality of methionine metabolism (HP:0010901)2.00559801
67Breech presentation (HP:0001623)1.99972187
68Increased serum lactate (HP:0002151)1.99628227
69Increased hepatocellular lipid droplets (HP:0006565)1.98958545
70Spastic paraparesis (HP:0002313)1.98660510
71Pheochromocytoma (HP:0002666)1.98384964
72Abnormality of DNA repair (HP:0003254)1.95158020
73Redundant skin (HP:0001582)1.94570317
74Respiratory difficulties (HP:0002880)1.94428912
75Duodenal stenosis (HP:0100867)1.91732222
76Small intestinal stenosis (HP:0012848)1.91732222
77Breast hypoplasia (HP:0003187)1.91647236
78Adenoma sebaceum (HP:0009720)1.88698495
79Angiofibromas (HP:0010615)1.88698495
80Mitochondrial inheritance (HP:0001427)1.85037652
81Secondary amenorrhea (HP:0000869)1.84876043
82CNS hypomyelination (HP:0003429)1.83746801
83Palpitations (HP:0001962)1.82940375
84Neuroendocrine neoplasm (HP:0100634)1.82215893
85Lipid accumulation in hepatocytes (HP:0006561)1.81709502
86Cheekbone underdevelopment (HP:0010669)1.81472275
87Sandal gap (HP:0001852)1.79865261
88Increased nuchal translucency (HP:0010880)1.79811854
89Flat cornea (HP:0007720)1.79131347
90Overfolded helix (HP:0000396)1.75527035
91Ureteral duplication (HP:0000073)1.74990922
92Hepatocellular carcinoma (HP:0001402)1.74120564
93Esophageal neoplasm (HP:0100751)1.73931465
94Neoplasm of head and neck (HP:0012288)1.73931465
95Patellar dislocation (HP:0002999)1.73795206
96Renal Fanconi syndrome (HP:0001994)1.71578160
97Lactic acidosis (HP:0003128)1.71403529
98Hepatocellular necrosis (HP:0001404)1.71143036
99Insomnia (HP:0100785)1.70616848
100Limb hypertonia (HP:0002509)1.69836172

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK14.52425478
2TTK3.55444524
3RIPK43.32397692
4PDK22.95836078
5KSR22.91933211
6NEK12.86354997
7CLK12.75555457
8PBK2.67496093
9CCNB12.52357085
10BMPR22.51852574
11CDC72.44503390
12EEF2K2.36325762
13KSR12.33280091
14EIF2AK32.28988380
15SRPK12.28449369
16RAF12.19034494
17BUB12.18825882
18WEE12.18344253
19MAP3K22.17006457
20BRSK22.15208314
21SIK32.07740827
22TRIM282.06968262
23NTRK32.03923126
24TSSK62.03126655
25NME12.01610934
26PLK41.92115913
27MST41.89307018
28NME21.67062909
29MAP3K81.43222219
30NEK21.40316980
31ICK1.40088939
32CHEK21.39764360
33IRAK31.31173991
34BRSK11.30554809
35RPS6KB21.20485830
36ATR1.11051652
37SCYL21.11017530
38PLK31.06700221
39STK161.05420001
40WNK41.04806600
41BMX1.00211044
42CHEK10.98108167
43ALK0.97049938
44BCR0.95606830
45STK40.95071512
46STK30.87780146
47PLK10.86017038
48MKNK10.80093113
49CDK120.77850831
50TRPM70.76490604
51CDK10.75635869
52BRAF0.74845314
53ATM0.72511286
54CDK20.71298695
55AURKB0.69895244
56PIK3CG0.66011861
57PAK10.64735545
58MAP2K10.61406027
59JAK20.61173168
60AKT30.58416864
61CSNK2A20.57914916
62MAPKAPK50.57848442
63MARK30.56660277
64ILK0.55852369
65EIF2AK20.54478164
66CSNK1E0.52467746
67CDK70.52420574
68MAP3K40.49850427
69ZAK0.49725584
70MAPKAPK30.45970404
71CSNK2A10.43633033
72PIM10.40902750
73MTOR0.40717372
74RET0.40637808
75JAK30.40235762
76STK100.40200651
77MKNK20.37451569
78PASK0.37197651
79MAP3K10.35881359
80YES10.33066623
81CDK80.29396303
82AKT20.28575088
83LRRK20.28424825
84GSK3B0.28092410
85MAPK140.28052821
86MST1R0.27820184
87NEK60.27817614
88PRKDC0.27061305
89AURKA0.26530248
90RPS6KA50.25866716
91CDK180.25079588
92TEC0.25008755
93WNK10.24467576
94BRD40.22722072
95AKT10.22662800
96DYRK30.22442380
97LATS20.22175820
98MAPK100.21978648
99PAK20.21676555
100PTK60.21082161

Predicted pathways (KEGG)

RankGene SetZ-score
1Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009704.34755362
2DNA replication_Homo sapiens_hsa030303.55578000
3Mismatch repair_Homo sapiens_hsa034303.39971725
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.24539403
5One carbon pool by folate_Homo sapiens_hsa006703.06506337
6Homologous recombination_Homo sapiens_hsa034402.86908775
7Ribosome_Homo sapiens_hsa030102.74575848
8Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.70067863
9Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.70046266
10RNA transport_Homo sapiens_hsa030132.57287368
11Proteasome_Homo sapiens_hsa030502.37584982
12Spliceosome_Homo sapiens_hsa030402.34521518
13Nucleotide excision repair_Homo sapiens_hsa034202.17049469
14RNA polymerase_Homo sapiens_hsa030202.11788603
15Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.99748511
16Cell cycle_Homo sapiens_hsa041101.97287848
17Fanconi anemia pathway_Homo sapiens_hsa034601.96150704
18Biosynthesis of amino acids_Homo sapiens_hsa012301.91134269
19Parkinsons disease_Homo sapiens_hsa050121.88571671
20Pyruvate metabolism_Homo sapiens_hsa006201.84884749
21Oxidative phosphorylation_Homo sapiens_hsa001901.83948413
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.83000024
23Carbon metabolism_Homo sapiens_hsa012001.82143379
24Basal transcription factors_Homo sapiens_hsa030221.81225209
25Base excision repair_Homo sapiens_hsa034101.55080039
26Non-homologous end-joining_Homo sapiens_hsa034501.52645179
27mRNA surveillance pathway_Homo sapiens_hsa030151.44800121
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.44305861
29Huntingtons disease_Homo sapiens_hsa050161.40999719
30RNA degradation_Homo sapiens_hsa030181.40214007
31Pyrimidine metabolism_Homo sapiens_hsa002401.39457991
32Steroid biosynthesis_Homo sapiens_hsa001001.29484184
33Fructose and mannose metabolism_Homo sapiens_hsa000511.28355907
342-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.27645792
35Protein export_Homo sapiens_hsa030601.22014793
36Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.18641538
37Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.18536744
38Pentose phosphate pathway_Homo sapiens_hsa000301.17985604
39Propanoate metabolism_Homo sapiens_hsa006401.12654447
40Purine metabolism_Homo sapiens_hsa002301.12649177
41Arginine biosynthesis_Homo sapiens_hsa002201.11693757
42Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.10839567
43Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.10050349
44Alzheimers disease_Homo sapiens_hsa050101.07336973
45Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.06046539
46Selenocompound metabolism_Homo sapiens_hsa004501.02040142
47Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.93518703
48Olfactory transduction_Homo sapiens_hsa047400.83575503
49Oocyte meiosis_Homo sapiens_hsa041140.82822676
50Acute myeloid leukemia_Homo sapiens_hsa052210.76636356
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.74502371
52Fatty acid elongation_Homo sapiens_hsa000620.72816655
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.72517151
54Fatty acid metabolism_Homo sapiens_hsa012120.71618008
55Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.70744169
56N-Glycan biosynthesis_Homo sapiens_hsa005100.68551448
57HIF-1 signaling pathway_Homo sapiens_hsa040660.63975490
58Chronic myeloid leukemia_Homo sapiens_hsa052200.62739847
59Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.61533610
60Metabolic pathways_Homo sapiens_hsa011000.60672834
61Sulfur relay system_Homo sapiens_hsa041220.60174652
62Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.59782738
63Thyroid cancer_Homo sapiens_hsa052160.58765246
64Glutathione metabolism_Homo sapiens_hsa004800.57226187
65Butanoate metabolism_Homo sapiens_hsa006500.54828394
66SNARE interactions in vesicular transport_Homo sapiens_hsa041300.53832837
67mTOR signaling pathway_Homo sapiens_hsa041500.53207102
68Viral carcinogenesis_Homo sapiens_hsa052030.50565032
69Epstein-Barr virus infection_Homo sapiens_hsa051690.49199964
70Tyrosine metabolism_Homo sapiens_hsa003500.46291387
71Central carbon metabolism in cancer_Homo sapiens_hsa052300.40305637
72ErbB signaling pathway_Homo sapiens_hsa040120.39173487
73Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.38571565
74Lysine degradation_Homo sapiens_hsa003100.38560608
75Vitamin B6 metabolism_Homo sapiens_hsa007500.35423939
76Cyanoamino acid metabolism_Homo sapiens_hsa004600.33750971
77Cardiac muscle contraction_Homo sapiens_hsa042600.33709274
78VEGF signaling pathway_Homo sapiens_hsa043700.32740478
79Pancreatic cancer_Homo sapiens_hsa052120.30278688
80Type II diabetes mellitus_Homo sapiens_hsa049300.29449689
81Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.29087413
82Non-small cell lung cancer_Homo sapiens_hsa052230.27986484
83Maturity onset diabetes of the young_Homo sapiens_hsa049500.27788711
84Drug metabolism - other enzymes_Homo sapiens_hsa009830.27352167
85Fatty acid biosynthesis_Homo sapiens_hsa000610.27031964
86Renal cell carcinoma_Homo sapiens_hsa052110.26922804
87Insulin signaling pathway_Homo sapiens_hsa049100.26562635
88Folate biosynthesis_Homo sapiens_hsa007900.25924286
89Arginine and proline metabolism_Homo sapiens_hsa003300.25876568
90Nitrogen metabolism_Homo sapiens_hsa009100.24745148
91Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.22514094
92Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.22055089
93Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.21060546
94Galactose metabolism_Homo sapiens_hsa000520.20377013
95MicroRNAs in cancer_Homo sapiens_hsa052060.18368592
96Prion diseases_Homo sapiens_hsa050200.18320980
97p53 signaling pathway_Homo sapiens_hsa041150.13672742
98Other glycan degradation_Homo sapiens_hsa005110.10470325
99Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.09024942
100Hepatitis B_Homo sapiens_hsa051610.08900498

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