PRPS1L1

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





Description: This intronless gene is specifically expressed in the testis, and encodes a protein that is highly homologous to the two subunits of phosphoribosylpyrophosphate synthetase encoded by human X-linked genes, PRPS1 and PRPS2. These enzymes convert pyrimidine, purine or pyridine bases to the corresponding ribonucleoside monophosphates. In vitro transcription/translation and site-directed mutagenesis studies indicate that translation of this mRNA initiates exclusively at a non-AUG (ACG) codon. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1reproduction (GO:0000003)9.98679318
2piRNA metabolic process (GO:0034587)9.52805261
3epithelial cilium movement (GO:0003351)9.46714434
4motile cilium assembly (GO:0044458)9.25166898
5male meiosis (GO:0007140)9.04180141
6spermatid development (GO:0007286)8.98820047
7cilium movement (GO:0003341)8.24501333
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)8.21462334
9synaptonemal complex organization (GO:0070193)8.01010117
10synaptonemal complex assembly (GO:0007130)7.78137420
11single fertilization (GO:0007338)7.72456473
12regulation of cilium movement (GO:0003352)7.45232954
13sperm capacitation (GO:0048240)6.86352661
14fertilization (GO:0009566)6.45108621
15DNA methylation involved in gamete generation (GO:0043046)6.11163425
16spermatogenesis (GO:0007283)5.82421788
17male gamete generation (GO:0048232)5.80337951
18negative regulation of inclusion body assembly (GO:0090084)5.74096717
19chromosome organization involved in meiosis (GO:0070192)5.55416887
20male meiosis I (GO:0007141)5.51791919
21ventricular system development (GO:0021591)5.34476185
22gamete generation (GO:0007276)5.34172041
23microtubule depolymerization (GO:0007019)5.31966154
24cellular process involved in reproduction in multicellular organism (GO:0022412)5.28910701
25organic cation transport (GO:0015695)5.16216806
26germ cell development (GO:0007281)5.13903309
27meiotic nuclear division (GO:0007126)5.12670462
28cell recognition (GO:0008037)5.10846694
29spermatid nucleus differentiation (GO:0007289)4.84548212
30calcium ion-dependent exocytosis (GO:0017156)4.84127235
31regulation of inclusion body assembly (GO:0090083)4.69534669
32microtubule severing (GO:0051013)4.60111933
33seminiferous tubule development (GO:0072520)4.50733338
34meiosis I (GO:0007127)4.43445204
35monoubiquitinated protein deubiquitination (GO:0035520)4.41578588
36regulation of microtubule-based movement (GO:0060632)4.33001222
37multicellular organismal reproductive process (GO:0048609)4.18659867
38protein localization to cilium (GO:0061512)4.16618245
39meiotic cell cycle (GO:0051321)4.03685157
40left/right pattern formation (GO:0060972)3.73618629
41genitalia morphogenesis (GO:0035112)3.72809306
42chaperone-mediated protein complex assembly (GO:0051131)3.69398546
43intraciliary transport (GO:0042073)3.66555628
44glycerol ether metabolic process (GO:0006662)3.63361472
45protein polyglutamylation (GO:0018095)3.60078006
46gene silencing by RNA (GO:0031047)3.57473642
47synapsis (GO:0007129)3.52635750
48multicellular organismal development (GO:0007275)3.40397125
49ether metabolic process (GO:0018904)3.35157038
50centriole replication (GO:0007099)3.26604444
51centriole assembly (GO:0098534)3.24382597
52amino-acid betaine transport (GO:0015838)3.23490028
53carnitine transport (GO:0015879)3.23490028
54carnitine transmembrane transport (GO:1902603)3.20185622
55lactate metabolic process (GO:0006089)3.19117916
56meiotic cell cycle process (GO:1903046)3.18836516
57microtubule-based movement (GO:0007018)3.18684705
58chromosome condensation (GO:0030261)3.18031262
59axoneme assembly (GO:0035082)3.13711484
60protein K11-linked deubiquitination (GO:0035871)3.13615958
61negative regulation of organelle assembly (GO:1902116)3.11919404
62regulation of centriole replication (GO:0046599)3.11525119
63cilium organization (GO:0044782)3.05440702
64DNA packaging (GO:0006323)3.05280254
65regulation of spindle checkpoint (GO:0090231)3.02222661
66polyol catabolic process (GO:0046174)2.98879869
67alditol metabolic process (GO:0019400)2.97951170
68cellular component assembly involved in morphogenesis (GO:0010927)2.91783761
69nuclear pore complex assembly (GO:0051292)2.90900225
70cilium assembly (GO:0042384)2.89908583
71cilium morphogenesis (GO:0060271)2.89372611
72regulation of meiosis I (GO:0060631)2.80307136
73microtubule polymerization or depolymerization (GO:0031109)2.75115415
74nucleoside diphosphate phosphorylation (GO:0006165)2.72328727
75nucleus organization (GO:0006997)2.68315175
76protein refolding (GO:0042026)2.67790857
77single strand break repair (GO:0000012)2.66976276
78glycerol metabolic process (GO:0006071)2.66295721
79mitotic sister chromatid cohesion (GO:0007064)2.64964507
80glycolytic process (GO:0006096)2.61206083
81GTP biosynthetic process (GO:0006183)2.60431497
82regulation of protein polyubiquitination (GO:1902914)2.60335150
83gene silencing (GO:0016458)2.57172579
84single-organism membrane fusion (GO:0044801)2.48454917
85peptidyl-glutamic acid modification (GO:0018200)2.47302774
86sequestering of actin monomers (GO:0042989)2.44558540
87negative regulation of DNA repair (GO:0045738)2.40797430
88fusion of sperm to egg plasma membrane (GO:0007342)14.6923742
89cilium or flagellum-dependent cell motility (GO:0001539)14.0851103
90cell wall macromolecule catabolic process (GO:0016998)12.9253084
91cell wall macromolecule metabolic process (GO:0044036)12.9253084
92acrosome assembly (GO:0001675)12.7712685
93multicellular organism reproduction (GO:0032504)12.1889334
94sperm motility (GO:0030317)11.9283010
95sperm-egg recognition (GO:0035036)11.7876874
96plasma membrane fusion (GO:0045026)11.1926477
97cell-cell recognition (GO:0009988)10.5971682
98axonemal dynein complex assembly (GO:0070286)10.4418535
99binding of sperm to zona pellucida (GO:0007339)10.4206257
100acrosome reaction (GO:0007340)10.2231200

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse5.10919492
2BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse4.29381368
3EZH2_22144423_ChIP-Seq_EOC_Human4.06884561
4ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.65966605
5PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.61183284
6FLI1_27457419_Chip-Seq_LIVER_Mouse2.51627677
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.41112057
8PCGF2_27294783_Chip-Seq_ESCs_Mouse2.28630765
9CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.12778982
10CREM_20920259_ChIP-Seq_GC1-SPG_Mouse2.09460289
11EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human2.06320596
12MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse10.8866489
13KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.87474601
14CBX2_27304074_Chip-Seq_ESCs_Mouse1.84895111
15ELK4_26923725_Chip-Seq_MESODERM_Mouse1.82589091
16KAP1_22055183_ChIP-Seq_ESCs_Mouse1.81603504
17STAT6_21828071_ChIP-Seq_BEAS2B_Human1.78142491
18* TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.78081013
19VDR_22108803_ChIP-Seq_LS180_Human1.78048019
20RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.76081565
21PCGF2_27294783_Chip-Seq_NPCs_Mouse1.74908059
22GATA1_26923725_Chip-Seq_HPCs_Mouse1.72719602
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.66932120
24STAT1_17558387_ChIP-Seq_HELA_Human1.61391021
25NFE2_27457419_Chip-Seq_LIVER_Mouse1.58754212
26* GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse1.57966603
27* ZNF274_21170338_ChIP-Seq_K562_Hela1.55403526
28KDM2B_26808549_Chip-Seq_REH_Human1.53667502
29SUZ12_27294783_Chip-Seq_NPCs_Mouse1.52484666
30* TAL1_26923725_Chip-Seq_HPCs_Mouse1.49412111
31WDR5_24793694_ChIP-Seq_LNCAP_Human1.46489367
32GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45849424
33FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45714652
34IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.42967298
35CBP_20019798_ChIP-Seq_JUKART_Human1.42967298
36TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.42868494
37GATA3_21867929_ChIP-Seq_CD8_Mouse1.41576505
38ZFP57_27257070_Chip-Seq_ESCs_Mouse1.39173803
39MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.36822159
40* FLI1_21867929_ChIP-Seq_TH2_Mouse1.32803640
41NANOG_18555785_Chip-Seq_ESCs_Mouse1.28606492
42SOX2_22085726_ChIP-Seq_NPCs_Mouse1.28517013
43OCT4_18555785_Chip-Seq_ESCs_Mouse1.28397297
44EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.26421632
45MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.25770907
46* CRX_20693478_ChIP-Seq_RETINA_Mouse1.25028156
47* LUZP1_20508642_ChIP-Seq_ESCs_Mouse1.23735848
48EZH2_27294783_Chip-Seq_NPCs_Mouse1.21186553
49RNF2_27304074_Chip-Seq_NSC_Mouse1.19384330
50CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.18815972
51P300_18555785_Chip-Seq_ESCs_Mouse1.18541525
52P53_22387025_ChIP-Seq_ESCs_Mouse1.18250210
53* GATA3_21867929_ChIP-Seq_TH1_Mouse1.17445268
54KLF4_18555785_Chip-Seq_ESCs_Mouse1.17186116
55CMYC_18555785_Chip-Seq_ESCs_Mouse1.16404669
56EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.15425568
57GF1_26923725_Chip-Seq_HPCs_Mouse1.15020576
58ESRRB_18555785_Chip-Seq_ESCs_Mouse1.14644678
59CTBP2_25329375_ChIP-Seq_LNCAP_Human1.14289297
60RUNX1_26923725_Chip-Seq_HPCs_Mouse1.14275321
61MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.13148794
62SETDB1_19884257_ChIP-Seq_MESCs_Mouse1.12891739
63OCT4_21477851_ChIP-Seq_ESCs_Mouse1.12400233
64REST_21632747_ChIP-Seq_MESCs_Mouse1.11911918
65SUZ12_18555785_Chip-Seq_ESCs_Mouse1.09853677
66SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.09332102
67STAT3_18555785_Chip-Seq_ESCs_Mouse1.08701921
68TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07774523
69CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07403539
70PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05151702
71POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.02905967
72TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02905967
73RUNX1_27457419_Chip-Seq_LIVER_Mouse1.02811434
74PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02713061
75FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00754633
76CTCF_18555785_Chip-Seq_ESCs_Mouse1.00121532
77* P53_21459846_ChIP-Seq_SAOS-2_Human0.99850604
78EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.99467864
79PU1_27457419_Chip-Seq_LIVER_Mouse0.98507177
80SOX2_18555785_Chip-Seq_ESCs_Mouse0.98252300
81ESET_19884257_ChIP-Seq_ESCs_Mouse0.97046410
82SPI1_26923725_Chip-Seq_HPCs_Mouse0.96554177
83GF1B_26923725_Chip-Seq_HPCs_Mouse0.95063828
84E2F1_18555785_Chip-Seq_ESCs_Mouse0.94630324
85CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.94508587
86NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.94489483
87PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.93268854
88SMAD1_18555785_Chip-Seq_ESCs_Mouse0.93069645
89RAD21_21589869_ChIP-Seq_MESCs_Mouse0.92341073
90ZFX_18555785_Chip-Seq_ESCs_Mouse0.92130285
91RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.91359112
92PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.91043616
93LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.90437975
94NMYC_18555785_Chip-Seq_ESCs_Mouse0.88648036
95SOX9_26525672_Chip-Seq_HEART_Mouse0.86818338
96STAT3_18555785_ChIP-Seq_MESCs_Mouse0.84661065
97FLI1_21867929_ChIP-Seq_CD8_Mouse0.84201224
98RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.84109763
99* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.84009842
100ERG_20517297_ChIP-Seq_VCAP_Human0.83591218

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003698_abnormal_male_reproductive6.01822515
2MP0001929_abnormal_gametogenesis5.59335966
3MP0008877_abnormal_DNA_methylation5.52393942
4MP0002210_abnormal_sex_determination3.81643924
5MP0002653_abnormal_ependyma_morphology3.62601930
6MP0001145_abnormal_male_reproductive3.22470741
7MP0002161_abnormal_fertility/fecundity3.22436219
8MP0000653_abnormal_sex_gland2.81986681
9MP0005623_abnormal_meninges_morphology2.21781845
10MP0005410_abnormal_fertilization15.2878611
11MP0005670_abnormal_white_adipose1.88982166
12MP0008057_abnormal_DNA_replication1.85356240
13MP0002160_abnormal_reproductive_system1.66415901
14MP0009046_muscle_twitch1.57628498
15MP0008058_abnormal_DNA_repair1.53833542
16MP0002282_abnormal_trachea_morphology1.31355920
17MP0004233_abnormal_muscle_weight1.25406813
18MP0001984_abnormal_olfaction1.19404915
19MP0010094_abnormal_chromosome_stability1.16978337
20MP0005647_abnormal_sex_gland1.16634245
21MP0003646_muscle_fatigue1.16426815
22MP0001765_abnormal_ion_homeostasis1.01575709
23MP0003011_delayed_dark_adaptation0.90113081
24MP0005389_reproductive_system_phenotype0.84104535
25MP0008995_early_reproductive_senescence0.83896942
26MP0000569_abnormal_digit_pigmentation0.78265928
27MP0002234_abnormal_pharynx_morphology0.75745475
28MP0002928_abnormal_bile_duct0.75363766
29MP0003786_premature_aging0.74825011
30MP0008007_abnormal_cellular_replicative0.73674527
31MP0004808_abnormal_hematopoietic_stem0.67965219
32MP0002102_abnormal_ear_morphology0.66692527
33MP0010307_abnormal_tumor_latency0.63062997
34MP0005397_hematopoietic_system_phenotyp0.58268577
35MP0001545_abnormal_hematopoietic_system0.58268577
36MP0003950_abnormal_plasma_membrane0.55265418
37MP0009278_abnormal_bone_marrow0.53365644
38MP0000358_abnormal_cell_content/0.53100670
39MP0003183_abnormal_peptide_metabolism0.52684505
40MP0003699_abnormal_female_reproductive0.52539665
41MP0001119_abnormal_female_reproductive0.48832117
42MP0001324_abnormal_eye_pigmentation0.48458617
43MP0005636_abnormal_mineral_homeostasis0.48400371
44MP0004134_abnormal_chest_morphology0.47300777
45MP0003111_abnormal_nucleus_morphology0.44524361
46MP0003878_abnormal_ear_physiology0.41754670
47MP0005377_hearing/vestibular/ear_phenot0.41754670
48MP0005551_abnormal_eye_electrophysiolog0.40424401
49MP0001764_abnormal_homeostasis0.39297764
50MP0003115_abnormal_respiratory_system0.38923411
51MP0000427_abnormal_hair_cycle0.38754936
52MP0005253_abnormal_eye_physiology0.37249327
53MP0002971_abnormal_brown_adipose0.36702978
54MP0001293_anophthalmia0.36563139
55MP0004036_abnormal_muscle_relaxation0.36256104
56MP0004019_abnormal_vitamin_homeostasis0.35460453
57MP0003633_abnormal_nervous_system0.34964513
58MP0001730_embryonic_growth_arrest0.34599989
59MP0002269_muscular_atrophy0.34196475
60MP0005666_abnormal_adipose_tissue0.33250547
61MP0002405_respiratory_system_inflammati0.31335283
62MP0000313_abnormal_cell_death0.31285129
63MP0009115_abnormal_fat_cell0.30397382
64MP0005391_vision/eye_phenotype0.29183861
65MP0003045_fibrosis0.28537300
66MP0000015_abnormal_ear_pigmentation0.27446121
67MP0001851_eye_inflammation0.25411067
68MP0006036_abnormal_mitochondrial_physio0.25344314
69MP0005174_abnormal_tail_pigmentation0.24170686
70MP0003329_amyloid_beta_deposits0.22616332
71MP0003631_nervous_system_phenotype0.22546652
72MP0003077_abnormal_cell_cycle0.22462257
73MP0002132_abnormal_respiratory_system0.22257190
74MP0000647_abnormal_sebaceous_gland0.20522544
75MP0004133_heterotaxia0.20097268
76MP0004811_abnormal_neuron_physiology0.19526230
77MP0003861_abnormal_nervous_system0.19437048
78MP0002084_abnormal_developmental_patter0.19166582
79MP0002152_abnormal_brain_morphology0.18835970
80MP0001986_abnormal_taste_sensitivity0.18017333
81MP0003787_abnormal_imprinting0.15936178
82MP0000432_abnormal_head_morphology0.15765215
83MP0002092_abnormal_eye_morphology0.13952028
84MP0005380_embryogenesis_phenotype0.13846165
85MP0001672_abnormal_embryogenesis/_devel0.13846165
86MP0006035_abnormal_mitochondrial_morpho0.13485543
87MP0008875_abnormal_xenobiotic_pharmacok0.13151644
88MP0008961_abnormal_basal_metabolism0.12908222
89MP0002229_neurodegeneration0.12718909
90MP0000604_amyloidosis0.12715927
91MP0005195_abnormal_posterior_eye0.12584482
92MP0005535_abnormal_body_temperature0.12355878
93MP0001697_abnormal_embryo_size0.12323937
94MP0002139_abnormal_hepatobiliary_system0.12126528
95MP0002970_abnormal_white_adipose0.11777060
96MP0003984_embryonic_growth_retardation0.11466410
97MP0003879_abnormal_hair_cell0.11349866
98MP0001727_abnormal_embryo_implantation0.10998647
99MP0002169_no_abnormal_phenotype0.10905329
100MP0002873_normal_phenotype0.10640835

Predicted human phenotypes

RankGene SetZ-score
1Abnormal respiratory motile cilium physiology (HP:0012261)9.60657863
2Abnormal respiratory motile cilium morphology (HP:0005938)8.81769561
3Abnormal respiratory epithelium morphology (HP:0012253)8.81769561
4Rhinitis (HP:0012384)8.08716052
5Abnormal ciliary motility (HP:0012262)7.88730448
6Chronic bronchitis (HP:0004469)7.43468785
7Nasal polyposis (HP:0100582)6.55306868
8Infertility (HP:0000789)5.99707703
9Abnormality of the nasal mucosa (HP:0000433)5.38358873
10Bronchiectasis (HP:0002110)4.67347218
11Bronchitis (HP:0012387)4.60203119
12Nephronophthisis (HP:0000090)4.35689762
13Recurrent sinusitis (HP:0011108)3.66083317
14Male infertility (HP:0003251)3.35881285
15Recurrent otitis media (HP:0000403)3.33185352
16Abnormality of the renal medulla (HP:0100957)3.31032840
17Abnormal spermatogenesis (HP:0008669)3.18430225
18Medial flaring of the eyebrow (HP:0010747)3.12162843
19Abnormality of the lower motor neuron (HP:0002366)3.06840451
20Abnormality of midbrain morphology (HP:0002418)2.76561783
21Molar tooth sign on MRI (HP:0002419)2.76561783
22Tubulointerstitial nephritis (HP:0001970)2.75177125
23Recurrent bronchitis (HP:0002837)2.71359342
24Tubular atrophy (HP:0000092)2.58027000
25Azoospermia (HP:0000027)2.55036226
26Gonadotropin excess (HP:0000837)2.52574691
27Tubulointerstitial abnormality (HP:0001969)2.41315134
28Amyotrophic lateral sclerosis (HP:0007354)2.39778462
29Fibular hypoplasia (HP:0003038)2.34889382
30Chronic sinusitis (HP:0011109)2.12137914
31Impulsivity (HP:0100710)2.11322476
32Postaxial foot polydactyly (HP:0001830)2.10396371
33Congenital primary aphakia (HP:0007707)2.00846458
34Respiratory insufficiency due to defective ciliary clearance (HP:0200073)13.9369641
35Absent/shortened dynein arms (HP:0200106)12.5457611
36Dynein arm defect of respiratory motile cilia (HP:0012255)12.5457611
37Congenital hepatic fibrosis (HP:0002612)1.99933498
38Gait imbalance (HP:0002141)1.99859118
39Tubulointerstitial fibrosis (HP:0005576)1.97683930
40Impaired proprioception (HP:0010831)1.90741042
41Stage 5 chronic kidney disease (HP:0003774)1.89246788
42Microglossia (HP:0000171)1.88408535
43Absent frontal sinuses (HP:0002688)1.87638381
44Hypoplasia of the capital femoral epiphysis (HP:0003090)1.87115889
45Abnormality of the renal cortex (HP:0011035)1.84011077
46Upper motor neuron abnormality (HP:0002127)1.81225884
47Polydipsia (HP:0001959)1.79837431
48Abnormal drinking behavior (HP:0030082)1.79837431
49Renal dysplasia (HP:0000110)1.79765721
50Oculomotor apraxia (HP:0000657)1.75982203
51Short ribs (HP:0000773)1.75361363
52Facial cleft (HP:0002006)1.73974515
53Postaxial hand polydactyly (HP:0001162)1.72174374
54J-shaped sella turcica (HP:0002680)1.72141136
55Nephrogenic diabetes insipidus (HP:0009806)1.72107865
56Tongue fasciculations (HP:0001308)1.68340269
57Abnormality of the anterior horn cell (HP:0006802)1.64836874
58Degeneration of anterior horn cells (HP:0002398)1.64836874
59Abnormality of the dental root (HP:0006486)1.63488075
60Taurodontia (HP:0000679)1.63488075
61Abnormality of permanent molar morphology (HP:0011071)1.63488075
62Pancreatic fibrosis (HP:0100732)1.61468342
63Supernumerary spleens (HP:0009799)1.59772467
64Median cleft lip (HP:0000161)1.57619239
65Abnormality of ocular smooth pursuit (HP:0000617)1.57047531
66Aplasia/Hypoplasia of the tongue (HP:0010295)1.54856512
67Abnormality of saccadic eye movements (HP:0000570)1.54187747
68Abnormality of renal excretion (HP:0011036)1.54152966
69Abnormality of molar morphology (HP:0011070)1.53718062
70Abnormality of molar (HP:0011077)1.53718062
71Poor coordination (HP:0002370)1.52720346
72Muscle fibrillation (HP:0010546)1.52560128
73Heterotopia (HP:0002282)1.50776766
74Aplasia/Hypoplasia of the lens (HP:0008063)1.48220037
75Abnormality of the dental pulp (HP:0006479)1.47262449
76Abnormality of dentin (HP:0010299)1.47141317
77Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.46441016
78Genital tract atresia (HP:0001827)1.46324923
79Absent epiphyses (HP:0010577)1.46241261
80Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)1.46241261
81Aplasia/Hypoplasia of the fibula (HP:0006492)1.43690052
8211 pairs of ribs (HP:0000878)1.43591158
83Cystic liver disease (HP:0006706)1.42889887
84Vaginal atresia (HP:0000148)1.41658273
85Spastic tetraparesis (HP:0001285)1.37679922
86Deformed sella turcica (HP:0002681)1.36514243
87Breast carcinoma (HP:0003002)1.36407158
88Bile duct proliferation (HP:0001408)1.35236113
89Abnormal biliary tract physiology (HP:0012439)1.35236113
90Short thorax (HP:0010306)1.35152303
91Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.29567641
92Nephropathy (HP:0000112)1.27644426
93Decreased central vision (HP:0007663)1.26998497
94Cerebellar dysplasia (HP:0007033)1.26113079
95Limb ataxia (HP:0002070)1.25446954
96Dyschromatopsia (HP:0007641)1.24975344
97Abnormal gallbladder physiology (HP:0012438)1.24656466
98Cholecystitis (HP:0001082)1.24656466
99Bell-shaped thorax (HP:0001591)1.24159953
100Aplasia/Hypoplasia affecting the fundus (HP:0008057)1.22787602

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK39.34071212
2PDK49.34071212
3PDK26.27379063
4TESK14.10184064
5PRKD33.15668875
6ICK2.82089016
7PTK2B2.50024813
8WNK42.31399461
9STK392.26611084
10PNCK2.04328433
11NEK21.76640610
12STK381.29191879
13PDK11.02762398
14CCNB10.98812588
15WNK10.92633090
16STK30.91648348
17MAPK150.88889369
18TYRO30.84572264
19DYRK1B0.81279744
20WEE10.80743713
21PASK0.79118856
22CDC70.75032852
23LMTK20.72862040
24IRAK10.71533390
25TTK0.66404501
26CHEK20.64334685
27PLK40.64021813
28DYRK30.58934206
29CDK120.56102336
30CAMK1G0.53761424
31CHEK10.52012845
32ATR0.51842184
33STK38L0.48516349
34TESK20.48430280
35BRSK20.46430119
36PDPK10.42676198
37PINK10.42078812
38RIPK40.35829410
39MAP2K60.35705749
40ATM0.34927563
41EEF2K0.33531589
42ZAP700.31237737
43PLK10.25633241
44MTOR0.23739803
45NEK60.22468368
46PAK10.22368624
47IRAK20.20835253
48MARK30.20481051
49CAMKK10.19483593
50MAPKAPK50.18709092
51PRKCG0.17226707
52PRKAA10.16639237
53RPS6KB10.16405242
54NTRK20.16013021
55MAP2K70.15479527
56BMPR1B0.15411758
57PDGFRB0.14852642
58PAK20.14681525
59YES10.13608127
60CSF1R0.13356575
61RIPK10.11964794
62BRSK10.11204804
63STK100.11028302
64PRKG10.09748244
65PKN10.08891363
66MUSK0.08836457
67PRKCQ0.07899713
68STK110.07508559
69MAP3K40.07126163
70MARK20.07077604
71EGFR0.06891331
72CSNK2A10.06465590
73PRKCZ0.05817656
74MAP3K100.05563265
75CDK10.05095847
76CDK20.05048884
77PRKG20.04817376
78CSNK2A20.04586689
79PRKACG0.04560216
80MAPK80.04274276
81CDK30.04024282
82CSNK1D0.03754461
83PRKDC0.03747019
84GSK3B0.03165859
85MAP4K10.02443045
86BRAF0.01716472
87RPS6KA10.00374352
88PRKACB0.00120838
89CDK150.00029101
90PRKCA-0.0348309
91MAP3K5-0.0252191
92CDK18-0.0237330
93CDK11A-0.0222298
94PRKCB-0.0181044
95CDK6-0.0170531
96CSK-0.0154834
97MAPK10-0.0146534
98CDK4-0.0144535
99WNK3-0.0037579
100PAK4-0.0022365

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007505.20099910
2Pyruvate metabolism_Homo sapiens_hsa006204.33729908
3Glycolysis / Gluconeogenesis_Homo sapiens_hsa000104.26825533
4Propanoate metabolism_Homo sapiens_hsa006403.54305811
5Basal transcription factors_Homo sapiens_hsa030223.24168860
6Fatty acid biosynthesis_Homo sapiens_hsa000613.12962939
7Glucagon signaling pathway_Homo sapiens_hsa049222.94963801
8Selenocompound metabolism_Homo sapiens_hsa004502.63154639
9Fanconi anemia pathway_Homo sapiens_hsa034602.56410363
10alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.43471533
11Linoleic acid metabolism_Homo sapiens_hsa005912.33235457
12Glycosaminoglycan degradation_Homo sapiens_hsa005312.31044759
13Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.19493952
14Dorso-ventral axis formation_Homo sapiens_hsa043202.11086849
15Oocyte meiosis_Homo sapiens_hsa041142.02788844
16Glycerolipid metabolism_Homo sapiens_hsa005612.02348146
17Carbohydrate digestion and absorption_Homo sapiens_hsa049731.72001806
18Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.70802251
19Huntingtons disease_Homo sapiens_hsa050161.68511770
20PPAR signaling pathway_Homo sapiens_hsa033201.63257827
21Cysteine and methionine metabolism_Homo sapiens_hsa002701.59107865
22Amphetamine addiction_Homo sapiens_hsa050311.44490587
23Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.43084841
24Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.40721144
25Fructose and mannose metabolism_Homo sapiens_hsa000511.33912978
26Renin secretion_Homo sapiens_hsa049241.33786863
27Glycerophospholipid metabolism_Homo sapiens_hsa005641.33602393
28mRNA surveillance pathway_Homo sapiens_hsa030151.27359091
29RNA transport_Homo sapiens_hsa030131.22743558
30Antigen processing and presentation_Homo sapiens_hsa046121.18977933
31Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.13768162
32Fat digestion and absorption_Homo sapiens_hsa049751.05310796
33Renin-angiotensin system_Homo sapiens_hsa046141.04445550
34Ether lipid metabolism_Homo sapiens_hsa005651.03760200
35Cardiac muscle contraction_Homo sapiens_hsa042601.02500742
36Mineral absorption_Homo sapiens_hsa049780.98376813
37Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.96454649
38* Carbon metabolism_Homo sapiens_hsa012000.94681920
39ABC transporters_Homo sapiens_hsa020100.93685541
40Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.92302189
41* Pentose phosphate pathway_Homo sapiens_hsa000300.89593338
42Fatty acid metabolism_Homo sapiens_hsa012120.84859831
43N-Glycan biosynthesis_Homo sapiens_hsa005100.84756475
44Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.82028528
45Fatty acid degradation_Homo sapiens_hsa000710.80527943
46Long-term potentiation_Homo sapiens_hsa047200.76929864
47Glutathione metabolism_Homo sapiens_hsa004800.75950831
48Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.75106083
49Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74824547
50Homologous recombination_Homo sapiens_hsa034400.72432320
51Estrogen signaling pathway_Homo sapiens_hsa049150.70403609
52Phosphatidylinositol signaling system_Homo sapiens_hsa040700.65591334
53Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.65539148
54Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.63740999
55Chemical carcinogenesis_Homo sapiens_hsa052040.61590158
56Systemic lupus erythematosus_Homo sapiens_hsa053220.60803655
57Inositol phosphate metabolism_Homo sapiens_hsa005620.60432712
58* Purine metabolism_Homo sapiens_hsa002300.60154464
59Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.58264896
60Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.58225288
61Central carbon metabolism in cancer_Homo sapiens_hsa052300.56957063
62cGMP-PKG signaling pathway_Homo sapiens_hsa040220.56258318
63Calcium signaling pathway_Homo sapiens_hsa040200.55458566
64Legionellosis_Homo sapiens_hsa051340.55169359
65Arachidonic acid metabolism_Homo sapiens_hsa005900.51687779
66B cell receptor signaling pathway_Homo sapiens_hsa046620.48763148
67VEGF signaling pathway_Homo sapiens_hsa043700.48417832
68Collecting duct acid secretion_Homo sapiens_hsa049660.44747805
69AMPK signaling pathway_Homo sapiens_hsa041520.44179158
70Adipocytokine signaling pathway_Homo sapiens_hsa049200.44146281
71Endocytosis_Homo sapiens_hsa041440.43911785
72Thyroid hormone synthesis_Homo sapiens_hsa049180.39518311
73Insulin secretion_Homo sapiens_hsa049110.38798065
74Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.37731655
75Taste transduction_Homo sapiens_hsa047420.32936905
76* Metabolic pathways_Homo sapiens_hsa011000.32412891
77RNA degradation_Homo sapiens_hsa030180.30733646
78Viral carcinogenesis_Homo sapiens_hsa052030.30204325
79Bile secretion_Homo sapiens_hsa049760.29269809
80Cell cycle_Homo sapiens_hsa041100.28771039
81Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.27342761
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.24297200
83Pancreatic secretion_Homo sapiens_hsa049720.22680508
84Lysine degradation_Homo sapiens_hsa003100.22360203
85Salmonella infection_Homo sapiens_hsa051320.21755951
86Hedgehog signaling pathway_Homo sapiens_hsa043400.21683490
87Protein digestion and absorption_Homo sapiens_hsa049740.21535750
88Thyroid hormone signaling pathway_Homo sapiens_hsa049190.21053648
89* Biosynthesis of amino acids_Homo sapiens_hsa012300.20860083
90Retinol metabolism_Homo sapiens_hsa008300.19592171
91Synaptic vesicle cycle_Homo sapiens_hsa047210.18778235
92T cell receptor signaling pathway_Homo sapiens_hsa046600.18773362
93Vascular smooth muscle contraction_Homo sapiens_hsa042700.17175098
94cAMP signaling pathway_Homo sapiens_hsa040240.16266521
95Gastric acid secretion_Homo sapiens_hsa049710.14077143
96Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.13443018
97Pyrimidine metabolism_Homo sapiens_hsa002400.12940691
98Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.12144099
99Salivary secretion_Homo sapiens_hsa049700.11915385
100Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.11325736

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