PRAMEF1

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 PRAME (preferentially expressed antigen of melanoma) gene family which is expressed in many cancers but may function in reproductive tissues during development. Alternative promoter usage generates two transcript variants, which encode different isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1base-excision repair, AP site formation (GO:0006285)4.94913267
2regulation of acrosome reaction (GO:0060046)4.82820629
3positive regulation of prostaglandin secretion (GO:0032308)4.48953575
4centriole replication (GO:0007099)4.24716572
5multicellular organism reproduction (GO:0032504)4.23444503
6DNA deamination (GO:0045006)4.05351408
7male meiosis I (GO:0007141)4.04406185
8behavioral response to nicotine (GO:0035095)3.91328551
9piRNA metabolic process (GO:0034587)3.85012358
10protein K11-linked deubiquitination (GO:0035871)3.79608276
11male meiosis (GO:0007140)3.78727763
12N-acetylneuraminate metabolic process (GO:0006054)3.73661638
13protoporphyrinogen IX biosynthetic process (GO:0006782)3.60178779
14regulation of prostaglandin secretion (GO:0032306)3.59716429
15transcription from mitochondrial promoter (GO:0006390)3.47480528
16meiosis I (GO:0007127)3.40116293
17positive regulation of uterine smooth muscle contraction (GO:0070474)3.34722734
18platelet dense granule organization (GO:0060155)3.30855227
19regulation of MHC class II biosynthetic process (GO:0045346)3.20557645
20detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.17545666
21purine deoxyribonucleotide catabolic process (GO:0009155)3.10631488
22positive regulation of histone deacetylation (GO:0031065)3.08658587
23positive regulation of fatty acid transport (GO:2000193)3.01345721
24regulation of neurotransmitter uptake (GO:0051580)3.00384105
25* negative regulation of retinoic acid receptor signaling pathway (GO:0048387)21.9251202
26positive regulation of icosanoid secretion (GO:0032305)2.98686983
27chaperone-mediated protein transport (GO:0072321)2.97810563
28mannosylation (GO:0097502)2.95045886
29regulation of glucokinase activity (GO:0033131)2.86779906
30regulation of hexokinase activity (GO:1903299)2.86779906
31protein K6-linked ubiquitination (GO:0085020)2.80135903
32negative regulation of execution phase of apoptosis (GO:1900118)2.77577129
33N-acetylglucosamine metabolic process (GO:0006044)2.77174659
34regulation of female gonad development (GO:2000194)2.75826327
35response to misfolded protein (GO:0051788)2.75716977
36preassembly of GPI anchor in ER membrane (GO:0016254)2.75311979
37proteasome assembly (GO:0043248)2.74356764
38L-fucose catabolic process (GO:0042355)2.73846541
39fucose catabolic process (GO:0019317)2.73846541
40L-fucose metabolic process (GO:0042354)2.73846541
41adaptation of signaling pathway (GO:0023058)2.73275419
42tryptophan catabolic process (GO:0006569)2.72335014
43indole-containing compound catabolic process (GO:0042436)2.72335014
44indolalkylamine catabolic process (GO:0046218)2.72335014
45macrophage chemotaxis (GO:0048246)2.71789920
46somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.69715614
47somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.69715614
48isotype switching (GO:0045190)2.69715614
49protein polyglutamylation (GO:0018095)2.68900877
50cellular extravasation (GO:0045123)2.68760232
51centriole assembly (GO:0098534)2.67355884
52response to pheromone (GO:0019236)2.65349568
53DNA methylation involved in gamete generation (GO:0043046)2.63380151
54regulation of penile erection (GO:0060405)2.63357846
55sperm-egg recognition (GO:0035036)2.61174396
56neuronal action potential (GO:0019228)2.61040304
57cytidine deamination (GO:0009972)2.60162923
58cytidine metabolic process (GO:0046087)2.60162923
59cytidine catabolic process (GO:0006216)2.60162923
60inositol phosphate catabolic process (GO:0071545)2.57654976
61rRNA modification (GO:0000154)2.57306376
62positive regulation of protein deacetylation (GO:0090312)2.56796330
63regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.56702019
64synaptic transmission, cholinergic (GO:0007271)2.56210111
65thalamus development (GO:0021794)2.55275857
66reproduction (GO:0000003)2.54204652
67negative regulation of cytosolic calcium ion concentration (GO:0051481)2.50984742
68protein complex biogenesis (GO:0070271)2.50873119
69water-soluble vitamin biosynthetic process (GO:0042364)2.50522910
70negative regulation of mast cell activation (GO:0033004)2.50170957
71GPI anchor metabolic process (GO:0006505)2.49537291
72mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.49456034
73mitochondrial respiratory chain complex I assembly (GO:0032981)2.49456034
74NADH dehydrogenase complex assembly (GO:0010257)2.49456034
75regulation of action potential (GO:0098900)2.48580122
76detection of light stimulus involved in visual perception (GO:0050908)2.48245592
77detection of light stimulus involved in sensory perception (GO:0050962)2.48245592
78axoneme assembly (GO:0035082)2.47468570
79rRNA methylation (GO:0031167)2.46947761
80cellular biogenic amine catabolic process (GO:0042402)2.46190561
81amine catabolic process (GO:0009310)2.46190561
82binding of sperm to zona pellucida (GO:0007339)2.44677499
83regulation of nuclear cell cycle DNA replication (GO:0033262)2.43935529
84pyrimidine dimer repair (GO:0006290)2.43544671
85S-adenosylmethionine metabolic process (GO:0046500)2.43179522
86reciprocal DNA recombination (GO:0035825)2.42673181
87reciprocal meiotic recombination (GO:0007131)2.42673181
88protoporphyrinogen IX metabolic process (GO:0046501)2.42554022
89positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.38946295
90negative regulation of telomere maintenance (GO:0032205)2.38751843
91mitochondrial respiratory chain complex assembly (GO:0033108)2.36742313
92aggressive behavior (GO:0002118)2.36520725
93G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.36506653
94deoxyribonucleotide catabolic process (GO:0009264)2.36092177
95somatic diversification of immunoglobulins (GO:0016445)2.35987909
96regulation of uterine smooth muscle contraction (GO:0070472)2.35046920
97negative regulation of JUN kinase activity (GO:0043508)2.34198587
98deoxyribonucleoside monophosphate metabolic process (GO:0009162)2.34153362
99respiratory chain complex IV assembly (GO:0008535)2.33935860
100* regulation of retinoic acid receptor signaling pathway (GO:0048385)18.2897828

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF274_21170338_ChIP-Seq_K562_Hela4.34072732
2IGF1R_20145208_ChIP-Seq_DFB_Human3.82584949
3EZH2_22144423_ChIP-Seq_EOC_Human3.67320663
4TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.89908793
5E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.84245727
6GBX2_23144817_ChIP-Seq_PC3_Human2.79781968
7KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.63526887
8FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.58440467
9NOTCH1_21737748_ChIP-Seq_TLL_Human2.56881514
10VDR_22108803_ChIP-Seq_LS180_Human2.56258152
11HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.47698666
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.33492299
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.18207781
14HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.11005799
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.05851951
16POU3F2_20337985_ChIP-ChIP_501MEL_Human1.97775875
17ZFP57_27257070_Chip-Seq_ESCs_Mouse1.96883657
18ER_23166858_ChIP-Seq_MCF-7_Human1.94039546
19CTBP2_25329375_ChIP-Seq_LNCAP_Human1.93415112
20EST1_17652178_ChIP-ChIP_JURKAT_Human1.91671737
21BCAT_22108803_ChIP-Seq_LS180_Human1.86973897
22CTBP1_25329375_ChIP-Seq_LNCAP_Human1.83721715
23TP53_22573176_ChIP-Seq_HFKS_Human1.81910848
24GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.80442211
25EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.79488458
26FLI1_27457419_Chip-Seq_LIVER_Mouse1.79222548
27MYC_18940864_ChIP-ChIP_HL60_Human1.69473629
28* ETV2_25802403_ChIP-Seq_MESCs_Mouse1.65456909
29P300_19829295_ChIP-Seq_ESCs_Human1.65069311
30UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.57673635
31NANOG_19829295_ChIP-Seq_ESCs_Human1.56206969
32SOX2_19829295_ChIP-Seq_ESCs_Human1.56206969
33* ETV1_20927104_ChIP-Seq_GIST48_Human1.55762856
34VDR_23849224_ChIP-Seq_CD4+_Human1.51523185
35ELK1_19687146_ChIP-ChIP_HELA_Human1.50248041
36* RBPJ_21746931_ChIP-Seq_IB4_Human1.46075642
37* PHF8_20622853_ChIP-Seq_HELA_Human1.45499965
38GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.45427021
39ETS1_20019798_ChIP-Seq_JURKAT_Human1.43942056
40MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43631377
41AUTS2_25519132_ChIP-Seq_293T-REX_Human1.43184525
42* NFYB_21822215_ChIP-Seq_K562_Human1.41863916
43NCOR_22424771_ChIP-Seq_293T_Human1.41139528
44LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.41127798
45NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.40812556
46ELF1_17652178_ChIP-ChIP_JURKAT_Human1.40659437
47NANOG_20526341_ChIP-Seq_ESCs_Human1.40568851
48PCGF2_27294783_Chip-Seq_ESCs_Mouse1.39618082
49RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.37959899
50JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.37631477
51HOXB7_26014856_ChIP-Seq_BT474_Human1.35347165
52HTT_18923047_ChIP-ChIP_STHdh_Human1.34326095
53EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.33293327
54FOXA1_25329375_ChIP-Seq_VCAP_Human1.33078444
55FOXA1_27270436_Chip-Seq_PROSTATE_Human1.33078444
56CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.32101280
57KLF5_20875108_ChIP-Seq_MESCs_Mouse1.32085703
58* TBL1_22424771_ChIP-Seq_293T_Human1.32032370
59SMAD4_21799915_ChIP-Seq_A2780_Human1.29243489
60IRF1_19129219_ChIP-ChIP_H3396_Human1.28095850
61STAT3_23295773_ChIP-Seq_U87_Human1.27441814
62GATA3_21878914_ChIP-Seq_MCF-7_Human1.25373254
63EWS_26573619_Chip-Seq_HEK293_Human1.24578126
64TCF4_23295773_ChIP-Seq_U87_Human1.23946691
65SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.22435639
66IKZF1_21737484_ChIP-ChIP_HCT116_Human1.22235480
67EGR1_23403033_ChIP-Seq_LIVER_Mouse1.22127499
68* GATA6_21074721_ChIP-Seq_CACO-2_Human1.21984468
69AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21960695
70CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21648125
71FOXA1_21572438_ChIP-Seq_LNCaP_Human1.21292919
72TCF4_22108803_ChIP-Seq_LS180_Human1.20311819
73NR3C1_21868756_ChIP-Seq_MCF10A_Human1.16885903
74* GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.15857548
75PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.12652917
76* CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.12476287
77* HNFA_21074721_ChIP-Seq_CACO-2_Human1.10652318
78CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.10647589
79FUS_26573619_Chip-Seq_HEK293_Human1.08920589
80CBP_20019798_ChIP-Seq_JUKART_Human1.08699942
81IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.08699942
82AR_25329375_ChIP-Seq_VCAP_Human1.08176225
83AR_20517297_ChIP-Seq_VCAP_Human1.07236496
84RUNX2_22187159_ChIP-Seq_PCA_Human1.07149413
85PIAS1_25552417_ChIP-Seq_VCAP_Human1.04854120
86SRF_21415370_ChIP-Seq_HL-1_Mouse1.04794996
87* NFYA_21822215_ChIP-Seq_K562_Human1.04179592
88NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.03370159
89CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.02894361
90FOXP3_21729870_ChIP-Seq_TREG_Human1.02882127
91PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.02722827
92* PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.02073424
93ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.99743128
94EZH2_27294783_Chip-Seq_NPCs_Mouse0.98959696
95PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.97992070
96SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.96907587
97CDX2_22108803_ChIP-Seq_LS180_Human0.95878640
98FLI1_21867929_ChIP-Seq_TH2_Mouse0.92467613
99PRDM14_20953172_ChIP-Seq_ESCs_Human0.90607445
100BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.89985007

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract3.96709980
2MP0001986_abnormal_taste_sensitivity3.19822448
3MP0003195_calcinosis3.03624175
4MP0008877_abnormal_DNA_methylation3.01950479
5MP0000372_irregular_coat_pigmentation2.78507117
6MP0005423_abnormal_somatic_nervous2.62461028
7MP0005551_abnormal_eye_electrophysiolog2.44340186
8MP0008058_abnormal_DNA_repair2.41083746
9MP0005646_abnormal_pituitary_gland2.31896245
10MP0004043_abnormal_pH_regulation2.28487519
11MP0003718_maternal_effect2.21816107
12MP0005365_abnormal_bile_salt2.13849671
13MP0006072_abnormal_retinal_apoptosis2.12789963
14MP0003252_abnormal_bile_duct2.10223137
15MP0002837_dystrophic_cardiac_calcinosis2.00915693
16MP0005085_abnormal_gallbladder_physiolo1.99502866
17MP0006276_abnormal_autonomic_nervous1.94459047
18MP0002876_abnormal_thyroid_physiology1.92980524
19MP0002254_reproductive_system_inflammat1.90409520
20MP0001502_abnormal_circadian_rhythm1.86890811
21MP0003950_abnormal_plasma_membrane1.83439939
22MP0005670_abnormal_white_adipose1.71811201
23MP0001501_abnormal_sleep_pattern1.70381189
24MP0005379_endocrine/exocrine_gland_phen1.70197464
25MP0006292_abnormal_olfactory_placode1.69743071
26MP0002160_abnormal_reproductive_system1.68727301
27MP0008872_abnormal_physiological_respon1.68560696
28MP0003880_abnormal_central_pattern1.67508888
29MP0002163_abnormal_gland_morphology1.66005474
30MP0003786_premature_aging1.65944409
31MP0005367_renal/urinary_system_phenotyp1.64244571
32MP0000516_abnormal_urinary_system1.64244571
33MP0008961_abnormal_basal_metabolism1.62103018
34MP0004142_abnormal_muscle_tone1.58905632
35MP0010329_abnormal_lipoprotein_level1.55149086
36MP0005389_reproductive_system_phenotype1.51554100
37MP0005410_abnormal_fertilization1.50074280
38MP0001984_abnormal_olfaction1.47501131
39MP0001968_abnormal_touch/_nociception1.46544119
40MP0001929_abnormal_gametogenesis1.42254897
41MP0002638_abnormal_pupillary_reflex1.41412516
42MP0005645_abnormal_hypothalamus_physiol1.37518283
43MP0003646_muscle_fatigue1.35489418
44MP0008995_early_reproductive_senescence1.32273575
45MP0000015_abnormal_ear_pigmentation1.28950019
46MP0005253_abnormal_eye_physiology1.28732977
47MP0004885_abnormal_endolymph1.24441907
48MP0002210_abnormal_sex_determination1.23943915
49MP0005174_abnormal_tail_pigmentation1.22690801
50MP0005075_abnormal_melanosome_morpholog1.22591688
51MP0009745_abnormal_behavioral_response1.20823519
52MP0004270_analgesia1.20738315
53MP0003136_yellow_coat_color1.19815925
54MP0000569_abnormal_digit_pigmentation1.19671181
55MP0002102_abnormal_ear_morphology1.19356048
56MP0004019_abnormal_vitamin_homeostasis1.18892049
57MP0002272_abnormal_nervous_system1.17169542
58MP0008875_abnormal_xenobiotic_pharmacok1.16532737
59MP0005360_urolithiasis1.16142390
60MP0000013_abnormal_adipose_tissue1.15715900
61MP0002127_abnormal_cardiovascular_syste1.15503989
62MP0003787_abnormal_imprinting1.14227400
63MP0000427_abnormal_hair_cycle1.12418053
64MP0002909_abnormal_adrenal_gland1.12071567
65MP0002234_abnormal_pharynx_morphology1.11843075
66MP0003283_abnormal_digestive_organ1.10884108
67MP0001919_abnormal_reproductive_system1.10197397
68MP0000653_abnormal_sex_gland1.08298227
69MP0003698_abnormal_male_reproductive1.06731075
70MP0005167_abnormal_blood-brain_barrier1.05987582
71MP0009046_muscle_twitch1.04436285
72MP0000003_abnormal_adipose_tissue1.03468349
73MP0004133_heterotaxia1.01816578
74MP0008789_abnormal_olfactory_epithelium1.01453277
75MP0002095_abnormal_skin_pigmentation1.01037967
76MP0005395_other_phenotype0.98568910
77MP0002736_abnormal_nociception_after0.96961868
78MP0010307_abnormal_tumor_latency0.93579180
79MP0000631_abnormal_neuroendocrine_gland0.93293519
80MP0002277_abnormal_respiratory_mucosa0.92158339
81MP0004145_abnormal_muscle_electrophysio0.91172433
82MP0001119_abnormal_female_reproductive0.90878749
83MP0001529_abnormal_vocalization0.89104164
84MP0005394_taste/olfaction_phenotype0.87472109
85MP0005499_abnormal_olfactory_system0.87472109
86MP0001145_abnormal_male_reproductive0.86006237
87MP0002735_abnormal_chemical_nociception0.85203757
88MP0002734_abnormal_mechanical_nocicepti0.84605773
89MP0004742_abnormal_vestibular_system0.84440075
90MP0004147_increased_porphyrin_level0.83644502
91MP0003186_abnormal_redox_activity0.83523050
92MP0001324_abnormal_eye_pigmentation0.79806246
93MP0001764_abnormal_homeostasis0.78130765
94MP0001944_abnormal_pancreas_morphology0.76695082
95MP0002751_abnormal_autonomic_nervous0.76120817
96MP0010386_abnormal_urinary_bladder0.75986809
97MP0002229_neurodegeneration0.75750571
98MP0008057_abnormal_DNA_replication0.74736232
99MP0004215_abnormal_myocardial_fiber0.74528545
100MP0005332_abnormal_amino_acid0.73310812

Predicted human phenotypes

RankGene SetZ-score
1Aplasia/Hypoplasia of the fovea (HP:0008060)3.16518322
2Hypoplasia of the fovea (HP:0007750)3.16518322
3Abnormality of midbrain morphology (HP:0002418)3.15356509
4Molar tooth sign on MRI (HP:0002419)3.15356509
5Abnormality of the renal cortex (HP:0011035)3.08871469
6Pancreatic cysts (HP:0001737)2.92658109
7Hypothermia (HP:0002045)2.83041988
8Hypomagnesemia (HP:0002917)2.76981437
9Pendular nystagmus (HP:0012043)2.70419872
10Renal cortical cysts (HP:0000803)2.65221605
11Abnormal rod and cone electroretinograms (HP:0008323)2.63178985
12Large for gestational age (HP:0001520)2.61247021
13Type II lissencephaly (HP:0007260)2.60977667
14Progressive microcephaly (HP:0000253)2.59446818
15True hermaphroditism (HP:0010459)2.58971654
16Medial flaring of the eyebrow (HP:0010747)2.57892647
17Aplasia/Hypoplasia of the uvula (HP:0010293)2.56997127
18Abnormality of the fovea (HP:0000493)2.54276448
19Type 2 muscle fiber atrophy (HP:0003554)2.51957974
20Congenital stationary night blindness (HP:0007642)2.47082035
21Aplasia/Hypoplasia of the tibia (HP:0005772)2.46334874
22Pancreatic fibrosis (HP:0100732)2.43106943
23Abnormality of the prostate (HP:0008775)2.39022309
24Short tibia (HP:0005736)2.36601387
25Gaze-evoked nystagmus (HP:0000640)2.36265605
26Meckel diverticulum (HP:0002245)2.35921937
27Neoplasm of the adrenal cortex (HP:0100641)2.34646819
28Broad-based gait (HP:0002136)2.34524569
29Abnormality of the ileum (HP:0001549)2.32165403
30Atonic seizures (HP:0010819)2.28680758
31Aplasia/hypoplasia of the uterus (HP:0008684)2.26104942
32Hepatocellular necrosis (HP:0001404)2.24967656
33Absent thumb (HP:0009777)2.24205611
34Abnormality of the renal medulla (HP:0100957)2.23677590
35Attenuation of retinal blood vessels (HP:0007843)2.23056861
36Abnormality of the preputium (HP:0100587)2.18606961
37Increased CSF lactate (HP:0002490)2.18014922
38Polyuria (HP:0000103)2.17960104
39Abnormality of magnesium homeostasis (HP:0004921)2.17742970
40Mitochondrial inheritance (HP:0001427)2.17571438
41Hypokalemic alkalosis (HP:0001949)2.17080781
42Renal Fanconi syndrome (HP:0001994)2.17061837
43Absent speech (HP:0001344)2.17050388
44Constricted visual fields (HP:0001133)2.12667784
45Thyroiditis (HP:0100646)2.11975665
46Nephronophthisis (HP:0000090)2.09484579
47Chromosomal breakage induced by crosslinking agents (HP:0003221)2.05927918
48Increased circulating renin level (HP:0000848)2.05265705
49Lissencephaly (HP:0001339)2.04947582
50Hepatic necrosis (HP:0002605)2.04734171
51Limb dystonia (HP:0002451)2.04510837
52Abnormality of DNA repair (HP:0003254)1.98879502
53Hemiparesis (HP:0001269)1.97424454
54Aplasia/Hypoplasia of the macula (HP:0008059)1.97349526
55Congenital sensorineural hearing impairment (HP:0008527)1.96154176
56Duplicated collecting system (HP:0000081)1.94963206
57Hypoplasia of the uterus (HP:0000013)1.94726688
58Abolished electroretinogram (ERG) (HP:0000550)1.94588320
59Carpal bone hypoplasia (HP:0001498)1.92422266
60Methylmalonic acidemia (HP:0002912)1.92338405
61Progressive inability to walk (HP:0002505)1.92326923
623-Methylglutaconic aciduria (HP:0003535)1.92045149
63Cerebellar dysplasia (HP:0007033)1.91789234
64Tubulointerstitial nephritis (HP:0001970)1.91259387
65Increased corneal curvature (HP:0100692)1.90565057
66Keratoconus (HP:0000563)1.90565057
67Aplasia/Hypoplasia involving the musculature (HP:0001460)1.90152076
68Anterior segment dysgenesis (HP:0007700)1.89345919
69Abnormality of the renal collecting system (HP:0004742)1.89223681
70Hyperaldosteronism (HP:0000859)1.89217574
71Clubbing of toes (HP:0100760)1.89110582
72Metaphyseal dysplasia (HP:0100255)1.88552621
73Optic nerve hypoplasia (HP:0000609)1.88062533
74Retinal atrophy (HP:0001105)1.88026908
75Absent rod-and cone-mediated responses on ERG (HP:0007688)1.86559774
76Chromsome breakage (HP:0040012)1.83999204
77Hyperventilation (HP:0002883)1.83422730
78Disproportionate short-trunk short stature (HP:0003521)1.82759820
79Abnormal albumin level (HP:0012116)1.82630596
80Hypoalbuminemia (HP:0003073)1.82630596
81Abnormal urine output (HP:0012590)1.81520725
82Acute necrotizing encephalopathy (HP:0006965)1.81106768
83Male infertility (HP:0003251)1.80531730
84Abnormal drinking behavior (HP:0030082)1.80292523
85Polydipsia (HP:0001959)1.80292523
86Aplasia/Hypoplasia affecting the retina (HP:0008061)1.79839491
87Muscle fiber atrophy (HP:0100295)1.79790555
88Chronic hepatic failure (HP:0100626)1.77881801
89Tubulointerstitial abnormality (HP:0001969)1.77847010
90Hypoproteinemia (HP:0003075)1.76819926
91Proximal tubulopathy (HP:0000114)1.76650163
92Abnormality of aspartate family amino acid metabolism (HP:0010899)1.75715515
93Abnormal protein glycosylation (HP:0012346)1.75130330
94Abnormal glycosylation (HP:0012345)1.75130330
95Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.75130330
96Abnormal protein N-linked glycosylation (HP:0012347)1.75130330
97Progressive macrocephaly (HP:0004481)1.74892296
98Congenital primary aphakia (HP:0007707)1.74790917
99Gait imbalance (HP:0002141)1.74701110
100Abnormality of the metopic suture (HP:0005556)1.73383095

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CCNB14.22755990
2FRK4.04635065
3NEK23.44565406
4MAP4K23.28832168
5MUSK2.74648363
6CAMKK22.67272444
7NUAK12.52951672
8CAMK1D2.49832496
9ZAK2.41506859
10CASK2.33171649
11TESK22.31987385
12VRK22.25280035
13WNK42.17145485
14WNK32.02386792
15TRIM281.91346752
16STK391.88737785
17OXSR11.73689421
18PINK11.72697232
19TAF11.71503406
20TLK11.66726799
21CAMK1G1.66303882
22GRK11.60785696
23STK161.58011217
24TAOK31.44712161
25ACVR1B1.41388363
26EIF2AK31.37633942
27MAP3K41.37513010
28PAK31.32536253
29TXK1.31073094
30ADRBK21.30171992
31KDR1.26659566
32VRK11.20157354
33MAPK131.18036433
34PRKCI1.17811737
35BUB11.11501935
36PDK21.11427093
37MARK31.00253679
38INSRR0.97002671
39CAMK10.96901105
40PIK3CG0.96338111
41TNK20.91269714
42NTRK30.90894577
43PLK20.90205585
44BMPR1B0.88687117
45LIMK10.87368145
46PLK30.84773218
47PRKCE0.83302613
48DYRK20.82433379
49CDK190.78373172
50BCKDK0.75036250
51CHUK0.74594671
52CSNK1G10.73786551
53GRK50.73540117
54SRPK10.73206465
55MAP2K70.66985053
56MAP3K70.65378914
57MST40.65067094
58MARK10.63907497
59ERBB30.60537311
60CSNK1G30.60470540
61MKNK20.59303270
62BRSK20.59204765
63FER0.58423886
64CSNK1G20.56686765
65TNIK0.56118430
66IKBKB0.53598975
67PRKCQ0.51814359
68PRKCG0.50692080
69PTK2B0.48846118
70STK30.48081934
71PKN10.47600225
72LRRK20.47079615
73DAPK10.46907728
74CSNK1A1L0.45411413
75MATK0.41198456
76TEC0.41016214
77MELK0.40240873
78MAP3K50.40152177
79EIF2AK20.39522631
80MAP3K120.39486527
81MAPKAPK50.38633775
82WNK10.38232486
83CHEK20.38084818
84PLK40.36890763
85MAP4K10.36634384
86ADRBK10.36341457
87FGFR20.36210625
88NEK60.35195022
89PLK10.34096599
90PRKAA20.33499914
91DAPK20.32386253
92BMPR20.31849707
93PHKG20.31225280
94PHKG10.31225280
95EPHA40.30369523
96PIM10.30348372
97GSK3A0.30103662
98STK38L0.30043142
99ATR0.29489980
100PRKCA0.29377441

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal transcription factors_Homo sapiens_hsa030223.33624755
2Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.96252543
3Protein export_Homo sapiens_hsa030602.53271794
4Phototransduction_Homo sapiens_hsa047442.44541749
5Regulation of autophagy_Homo sapiens_hsa041402.38431138
6Selenocompound metabolism_Homo sapiens_hsa004502.21419066
7RNA polymerase_Homo sapiens_hsa030202.19831644
8Maturity onset diabetes of the young_Homo sapiens_hsa049502.09056985
9Propanoate metabolism_Homo sapiens_hsa006402.07068921
10Fanconi anemia pathway_Homo sapiens_hsa034602.03007857
11Oxidative phosphorylation_Homo sapiens_hsa001901.95893214
12Caffeine metabolism_Homo sapiens_hsa002321.95151331
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.88442436
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.83825739
15Proteasome_Homo sapiens_hsa030501.78919908
16Sulfur metabolism_Homo sapiens_hsa009201.75814143
17Linoleic acid metabolism_Homo sapiens_hsa005911.74536808
18Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.71124073
19Homologous recombination_Homo sapiens_hsa034401.69189238
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.67290352
21Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.64671250
22Nitrogen metabolism_Homo sapiens_hsa009101.60876240
23Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.60650863
24Parkinsons disease_Homo sapiens_hsa050121.57659888
25Taste transduction_Homo sapiens_hsa047421.55411813
26Base excision repair_Homo sapiens_hsa034101.54389127
27Tryptophan metabolism_Homo sapiens_hsa003801.49233611
28Butanoate metabolism_Homo sapiens_hsa006501.49129523
29alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.42026776
30Folate biosynthesis_Homo sapiens_hsa007901.40609262
31Mineral absorption_Homo sapiens_hsa049781.38473206
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.34590422
33Fatty acid elongation_Homo sapiens_hsa000621.30120206
34Ether lipid metabolism_Homo sapiens_hsa005651.28816714
35Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.20413762
36Nicotine addiction_Homo sapiens_hsa050331.20107994
37Cardiac muscle contraction_Homo sapiens_hsa042601.12621340
38SNARE interactions in vesicular transport_Homo sapiens_hsa041301.12488425
39Huntingtons disease_Homo sapiens_hsa050161.08752071
40Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.06201837
41Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.04640760
42Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.04006709
43Peroxisome_Homo sapiens_hsa041461.03039621
44Circadian rhythm_Homo sapiens_hsa047100.96630514
45p53 signaling pathway_Homo sapiens_hsa041150.96196435
46Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.96187354
47RNA degradation_Homo sapiens_hsa030180.96186698
48Ovarian steroidogenesis_Homo sapiens_hsa049130.95711687
49Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.91938035
50Steroid hormone biosynthesis_Homo sapiens_hsa001400.90165171
51Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.89836525
52Cysteine and methionine metabolism_Homo sapiens_hsa002700.88843134
53Pyrimidine metabolism_Homo sapiens_hsa002400.88770262
54Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.87530599
55Chemical carcinogenesis_Homo sapiens_hsa052040.87257017
56Olfactory transduction_Homo sapiens_hsa047400.86931472
57Retinol metabolism_Homo sapiens_hsa008300.81259696
58Insulin secretion_Homo sapiens_hsa049110.80134097
59Fat digestion and absorption_Homo sapiens_hsa049750.79099622
60Metabolic pathways_Homo sapiens_hsa011000.78429986
61Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.77547951
62Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.77022159
63Non-homologous end-joining_Homo sapiens_hsa034500.76059407
64Glutathione metabolism_Homo sapiens_hsa004800.74084079
65ABC transporters_Homo sapiens_hsa020100.73179661
66Purine metabolism_Homo sapiens_hsa002300.73031539
67Collecting duct acid secretion_Homo sapiens_hsa049660.72769965
68Primary immunodeficiency_Homo sapiens_hsa053400.72727067
69Renin-angiotensin system_Homo sapiens_hsa046140.70166772
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.69233010
71Steroid biosynthesis_Homo sapiens_hsa001000.66728062
72Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.66681289
73Histidine metabolism_Homo sapiens_hsa003400.66609201
74RNA transport_Homo sapiens_hsa030130.65429003
75Nucleotide excision repair_Homo sapiens_hsa034200.64122516
76Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.59989127
77Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.58460668
78Primary bile acid biosynthesis_Homo sapiens_hsa001200.56992739
79Alzheimers disease_Homo sapiens_hsa050100.56844073
80Arachidonic acid metabolism_Homo sapiens_hsa005900.56636936
81Pyruvate metabolism_Homo sapiens_hsa006200.56227511
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.56122839
83Rheumatoid arthritis_Homo sapiens_hsa053230.55145589
84Arginine and proline metabolism_Homo sapiens_hsa003300.52934558
85Fatty acid biosynthesis_Homo sapiens_hsa000610.52592379
86N-Glycan biosynthesis_Homo sapiens_hsa005100.51254063
87beta-Alanine metabolism_Homo sapiens_hsa004100.51172745
88Synaptic vesicle cycle_Homo sapiens_hsa047210.51122127
89Sphingolipid metabolism_Homo sapiens_hsa006000.49524313
90Mismatch repair_Homo sapiens_hsa034300.45267541
91mRNA surveillance pathway_Homo sapiens_hsa030150.45250069
92Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.44347316
93Type I diabetes mellitus_Homo sapiens_hsa049400.44222208
94One carbon pool by folate_Homo sapiens_hsa006700.42101751
95Transcriptional misregulation in cancer_Homo sapiens_hsa052020.41149782
96Serotonergic synapse_Homo sapiens_hsa047260.40363613
97Drug metabolism - other enzymes_Homo sapiens_hsa009830.34600158
98Glycerolipid metabolism_Homo sapiens_hsa005610.34595910
99Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.34517155
100Oocyte meiosis_Homo sapiens_hsa041140.33505825

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