PSAT1P3

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine-containing compound transmembrane transport (GO:0072531)6.44716660
2L-serine metabolic process (GO:0006563)6.12298474
3vitamin transmembrane transport (GO:0035461)5.72254760
4water-soluble vitamin biosynthetic process (GO:0042364)5.23923546
5proteasome assembly (GO:0043248)4.97148081
6fucose catabolic process (GO:0019317)4.93334258
7L-fucose metabolic process (GO:0042354)4.93334258
8L-fucose catabolic process (GO:0042355)4.93334258
9positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)4.54188714
10regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)4.37356443
11respiratory chain complex IV assembly (GO:0008535)4.32426789
12negative regulation of DNA-dependent DNA replication (GO:2000104)4.26971584
13somatic hypermutation of immunoglobulin genes (GO:0016446)4.26151261
14somatic diversification of immune receptors via somatic mutation (GO:0002566)4.26151261
15negative regulation of telomere maintenance (GO:0032205)4.23925717
16DNA replication checkpoint (GO:0000076)4.11105201
17regulation of nuclear cell cycle DNA replication (GO:0033262)4.04532906
18DNA double-strand break processing (GO:0000729)4.00404446
19serine family amino acid biosynthetic process (GO:0009070)3.94771040
20DNA replication-dependent nucleosome organization (GO:0034723)3.89401627
21DNA replication-dependent nucleosome assembly (GO:0006335)3.89401627
22establishment of integrated proviral latency (GO:0075713)3.84681978
23chromatin remodeling at centromere (GO:0031055)3.76175100
24negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.76102552
25protein-cofactor linkage (GO:0018065)3.65333216
26cytochrome complex assembly (GO:0017004)3.65070848
27CENP-A containing nucleosome assembly (GO:0034080)3.61899911
28regulation of isotype switching to IgG isotypes (GO:0048302)3.60783042
29fucose metabolic process (GO:0006004)3.60213226
30regulation of regulatory T cell differentiation (GO:0045589)3.53092262
31maturation of SSU-rRNA (GO:0030490)3.49242642
32chaperone-mediated protein transport (GO:0072321)3.46709033
33regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.46143561
34tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.44060491
35RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.44060491
36telomere maintenance via telomerase (GO:0007004)3.43963178
37tRNA aminoacylation (GO:0043039)3.40036356
38amino acid activation (GO:0043038)3.40036356
39DNA catabolic process, exonucleolytic (GO:0000738)3.38122017
40tRNA aminoacylation for protein translation (GO:0006418)3.37633086
41nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.37385980
42postreplication repair (GO:0006301)3.36801279
43establishment of protein localization to mitochondrial membrane (GO:0090151)3.36558199
44negative regulation of ligase activity (GO:0051352)3.35614354
45negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.35614354
46iron ion import (GO:0097286)3.35144916
47exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.32487196
48regulation of cellular amino acid metabolic process (GO:0006521)3.32110447
49mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.27561387
50positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.25980708
51fucosylation (GO:0036065)3.25105004
52DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.19851073
53negative regulation of DNA recombination (GO:0045910)3.17484657
54signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.17025549
55signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.17025549
56signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.17025549
57mitochondrial respiratory chain complex assembly (GO:0033108)3.11918784
58signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.11684042
59intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.11684042
60histone exchange (GO:0043486)3.11510276
61protein neddylation (GO:0045116)3.11500516
62anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.11408848
63somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.11313372
64somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.11313372
65isotype switching (GO:0045190)3.11313372
66regulation of immunoglobulin secretion (GO:0051023)3.06027377
67protein complex biogenesis (GO:0070271)3.05835872
68mitochondrial respiratory chain complex I assembly (GO:0032981)3.05720290
69NADH dehydrogenase complex assembly (GO:0010257)3.05720290
70mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.05720290
71somatic diversification of immunoglobulins (GO:0016445)3.04031766
72GTP biosynthetic process (GO:0006183)3.03009008
73signal transduction involved in DNA damage checkpoint (GO:0072422)3.01084137
74signal transduction involved in DNA integrity checkpoint (GO:0072401)3.01084137
75signal transduction involved in cell cycle checkpoint (GO:0072395)2.97762067
76cullin deneddylation (GO:0010388)2.97670343
77spliceosomal snRNP assembly (GO:0000387)2.95186160
78RNA-dependent DNA replication (GO:0006278)2.95021735
79protein localization to kinetochore (GO:0034501)2.93549955
80intracellular protein transmembrane import (GO:0044743)2.92170532
81regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.92055673
82regulation of mitotic spindle checkpoint (GO:1903504)2.92055673
83folic acid-containing compound biosynthetic process (GO:0009396)2.91566494
84negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.91283074
85IMP biosynthetic process (GO:0006188)2.90998471
86protein deneddylation (GO:0000338)2.90112816
87transcription elongation from RNA polymerase III promoter (GO:0006385)2.89922093
88termination of RNA polymerase III transcription (GO:0006386)2.89922093
89serine family amino acid metabolic process (GO:0009069)2.88748701
90energy coupled proton transport, down electrochemical gradient (GO:0015985)2.88535949
91ATP synthesis coupled proton transport (GO:0015986)2.88535949
92establishment of viral latency (GO:0019043)2.87937531
93cellular ketone body metabolic process (GO:0046950)2.86516580
94cysteine metabolic process (GO:0006534)2.86155493
95DNA strand elongation involved in DNA replication (GO:0006271)2.85629005
96mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.82951296
97positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.81938654
98positive regulation of ligase activity (GO:0051351)2.75727885
997-methylguanosine mRNA capping (GO:0006370)2.73533245
100IMP metabolic process (GO:0046040)2.71532486

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.86339889
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.76737185
3E2F7_22180533_ChIP-Seq_HELA_Human4.35550816
4GABP_17652178_ChIP-ChIP_JURKAT_Human3.46235330
5ZNF274_21170338_ChIP-Seq_K562_Hela3.17365204
6EST1_17652178_ChIP-ChIP_JURKAT_Human3.14155613
7E2F4_17652178_ChIP-ChIP_JURKAT_Human3.02817218
8HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.81956333
9MYC_18555785_ChIP-Seq_MESCs_Mouse2.68420228
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.64722808
11MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.60004439
12JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.57825467
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.54685050
14NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.41734768
15BP1_19119308_ChIP-ChIP_Hs578T_Human2.39696978
16ETS1_20019798_ChIP-Seq_JURKAT_Human2.36959918
17CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.34758196
18ELK1_19687146_ChIP-ChIP_HELA_Human2.34184808
19CREB1_15753290_ChIP-ChIP_HEK293T_Human2.29050844
20VDR_23849224_ChIP-Seq_CD4+_Human2.18198655
21POU5F1_16153702_ChIP-ChIP_HESCs_Human2.18124656
22PCGF2_27294783_Chip-Seq_ESCs_Mouse2.03618755
23SALL1_21062744_ChIP-ChIP_HESCs_Human1.93335375
24VDR_22108803_ChIP-Seq_LS180_Human1.86783673
25FOXP3_21729870_ChIP-Seq_TREG_Human1.82774090
26NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.81282459
27MYC_19030024_ChIP-ChIP_MESCs_Mouse1.81093317
28MYC_18358816_ChIP-ChIP_MESCs_Mouse1.80627379
29E2F1_18555785_ChIP-Seq_MESCs_Mouse1.73600088
30EWS_26573619_Chip-Seq_HEK293_Human1.73530412
31SOX2_16153702_ChIP-ChIP_HESCs_Human1.69940192
32GATA1_22025678_ChIP-Seq_K562_Human1.69253805
33PCGF2_27294783_Chip-Seq_NPCs_Mouse1.68483100
34SRF_21415370_ChIP-Seq_HL-1_Mouse1.64562868
35POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.61909009
36HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.59277319
37MYC_18940864_ChIP-ChIP_HL60_Human1.56316341
38FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.56184120
39NOTCH1_21737748_ChIP-Seq_TLL_Human1.56003374
40SUZ12_27294783_Chip-Seq_NPCs_Mouse1.55382456
41IRF1_19129219_ChIP-ChIP_H3396_Human1.53616208
42NANOG_16153702_ChIP-ChIP_HESCs_Human1.51260843
43ELF1_17652178_ChIP-ChIP_JURKAT_Human1.51171885
44NFE2_27457419_Chip-Seq_LIVER_Mouse1.50372164
45PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.49798902
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.49614639
47THAP11_20581084_ChIP-Seq_MESCs_Mouse1.48234125
48P300_19829295_ChIP-Seq_ESCs_Human1.48077522
49NELFA_20434984_ChIP-Seq_ESCs_Mouse1.47389161
50DCP1A_22483619_ChIP-Seq_HELA_Human1.41531816
51ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.38575463
52MYC_19079543_ChIP-ChIP_MESCs_Mouse1.36812852
53PADI4_21655091_ChIP-ChIP_MCF-7_Human1.35375801
54EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.33987831
55CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.33462427
56EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.31771102
57LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29684962
58TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.29459327
59TAF15_26573619_Chip-Seq_HEK293_Human1.28625856
60YY1_21170310_ChIP-Seq_MESCs_Mouse1.25594397
61XRN2_22483619_ChIP-Seq_HELA_Human1.23093197
62ZFP57_27257070_Chip-Seq_ESCs_Mouse1.21213127
63TTF2_22483619_ChIP-Seq_HELA_Human1.21102543
64GABP_19822575_ChIP-Seq_HepG2_Human1.20939887
65MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.19999049
66EZH2_27294783_Chip-Seq_NPCs_Mouse1.19770253
67PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.19695809
68CTBP1_25329375_ChIP-Seq_LNCAP_Human1.18021582
69YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.17834985
70TP53_22573176_ChIP-Seq_HFKS_Human1.16459706
71GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.13499396
72POU3F2_20337985_ChIP-ChIP_501MEL_Human1.10644325
73MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.09489323
74E2F1_21310950_ChIP-Seq_MCF-7_Human1.08200731
75SOX2_19829295_ChIP-Seq_ESCs_Human1.07007243
76NANOG_19829295_ChIP-Seq_ESCs_Human1.07007243
77EGR1_23403033_ChIP-Seq_LIVER_Mouse1.06542239
78MYCN_18555785_ChIP-Seq_MESCs_Mouse1.05866114
79CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.04146772
80ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.01364500
81DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.00107851
82PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.98647673
83FUS_26573619_Chip-Seq_HEK293_Human0.96384440
84SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.96049812
85HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.93439552
86FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.92453238
87CRX_20693478_ChIP-Seq_RETINA_Mouse0.91656128
88CTBP2_25329375_ChIP-Seq_LNCAP_Human0.91136457
89FOXA1_27270436_Chip-Seq_PROSTATE_Human0.90879164
90FOXA1_25329375_ChIP-Seq_VCAP_Human0.90879164
91AUTS2_25519132_ChIP-Seq_293T-REX_Human0.90254530
92RBPJ_22232070_ChIP-Seq_NCS_Mouse0.89909234
93KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.88996370
94EZH2_22144423_ChIP-Seq_EOC_Human0.88617500
95CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.88159373
96KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.85658687
97KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.85658687
98KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.85658687
99HOXB4_20404135_ChIP-ChIP_EML_Mouse0.84921648
100UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.84187646

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004147_increased_porphyrin_level5.88558968
2MP0003195_calcinosis4.63905125
3MP0003136_yellow_coat_color4.18093410
4MP0008877_abnormal_DNA_methylation3.62692133
5MP0008058_abnormal_DNA_repair3.07727285
6MP0003718_maternal_effect3.06060156
7MP0010094_abnormal_chromosome_stability3.00404817
8MP0002653_abnormal_ependyma_morphology2.57241406
9MP0003941_abnormal_skin_development2.46241697
10MP0002102_abnormal_ear_morphology2.46121506
11MP0003693_abnormal_embryo_hatching2.42925970
12MP0000465_gastrointestinal_hemorrhage2.31743322
13MP0001529_abnormal_vocalization2.24244827
14MP0003011_delayed_dark_adaptation2.14224193
15MP0006292_abnormal_olfactory_placode2.06860579
16MP0001501_abnormal_sleep_pattern2.03727091
17MP0002254_reproductive_system_inflammat1.85815917
18MP0002277_abnormal_respiratory_mucosa1.82468375
19MP0008875_abnormal_xenobiotic_pharmacok1.81115530
20MP0003786_premature_aging1.79623031
21MP0003111_abnormal_nucleus_morphology1.78919930
22MP0001485_abnormal_pinna_reflex1.69596793
23MP0001188_hyperpigmentation1.68586710
24MP0001486_abnormal_startle_reflex1.65751594
25MP0004957_abnormal_blastocyst_morpholog1.63239392
26MP0001293_anophthalmia1.60837197
27MP0002736_abnormal_nociception_after1.60410926
28MP0006072_abnormal_retinal_apoptosis1.57271567
29MP0000372_irregular_coat_pigmentation1.56481657
30MP0004742_abnormal_vestibular_system1.47611978
31MP0001853_heart_inflammation1.46210553
32MP0005670_abnormal_white_adipose1.45698378
33MP0002090_abnormal_vision1.44954628
34MP0009697_abnormal_copulation1.43907297
35MP0005551_abnormal_eye_electrophysiolog1.43035570
36MP0009745_abnormal_behavioral_response1.38666972
37MP0006276_abnormal_autonomic_nervous1.38475604
38MP0003567_abnormal_fetal_cardiomyocyte1.38102915
39MP0008932_abnormal_embryonic_tissue1.37903978
40MP0002163_abnormal_gland_morphology1.36771832
41MP0003119_abnormal_digestive_system1.32767896
42MP0002210_abnormal_sex_determination1.29802118
43MP0005187_abnormal_penis_morphology1.29641280
44MP0005395_other_phenotype1.29322851
45MP0000647_abnormal_sebaceous_gland1.28645028
46MP0004133_heterotaxia1.26390570
47MP0008007_abnormal_cellular_replicative1.26064499
48MP0004885_abnormal_endolymph1.25610804
49MP0003077_abnormal_cell_cycle1.23463585
50MP0001764_abnormal_homeostasis1.23286381
51MP0008057_abnormal_DNA_replication1.21000788
52MP0000604_amyloidosis1.20055672
53MP0002751_abnormal_autonomic_nervous1.19551228
54MP0002160_abnormal_reproductive_system1.16900682
55MP0005253_abnormal_eye_physiology1.09129572
56MP0006035_abnormal_mitochondrial_morpho1.09095963
57MP0008872_abnormal_physiological_respon1.05338713
58MP0001119_abnormal_female_reproductive1.05207183
59MP0006036_abnormal_mitochondrial_physio1.01305064
60MP0000653_abnormal_sex_gland0.99481691
61MP0003656_abnormal_erythrocyte_physiolo0.97067819
62MP0003186_abnormal_redox_activity0.96657839
63MP0002132_abnormal_respiratory_system0.95563293
64MP0001929_abnormal_gametogenesis0.93430082
65MP0002938_white_spotting0.93030652
66MP0003315_abnormal_perineum_morphology0.91747799
67MP0005084_abnormal_gallbladder_morpholo0.87265095
68MP0004215_abnormal_myocardial_fiber0.87173097
69MP0001145_abnormal_male_reproductive0.87015686
70MP0003137_abnormal_impulse_conducting0.84849042
71MP0005379_endocrine/exocrine_gland_phen0.84152620
72MP0009046_muscle_twitch0.83366696
73MP0004142_abnormal_muscle_tone0.81911804
74MP0005167_abnormal_blood-brain_barrier0.81800768
75MP0005389_reproductive_system_phenotype0.81233293
76MP0003937_abnormal_limbs/digits/tail_de0.78642673
77MP0003806_abnormal_nucleotide_metabolis0.78412254
78MP0001730_embryonic_growth_arrest0.77175241
79MP0000749_muscle_degeneration0.76032782
80MP0002638_abnormal_pupillary_reflex0.75814337
81MP0004782_abnormal_surfactant_physiolog0.72327230
82MP0005332_abnormal_amino_acid0.70728753
83MP0003936_abnormal_reproductive_system0.70657447
84MP0003699_abnormal_female_reproductive0.70273067
85MP0005266_abnormal_metabolism0.70267061
86MP0001177_atelectasis0.68907102
87MP0009672_abnormal_birth_weight0.68142652
88MP0004043_abnormal_pH_regulation0.66796063
89MP0003698_abnormal_male_reproductive0.66714403
90MP0004924_abnormal_behavior0.65675406
91MP0005386_behavior/neurological_phenoty0.65675406
92MP0001968_abnormal_touch/_nociception0.64719555
93MP0009384_cardiac_valve_regurgitation0.64709902
94MP0002272_abnormal_nervous_system0.63288760
95MP0000631_abnormal_neuroendocrine_gland0.60808555
96MP0002837_dystrophic_cardiac_calcinosis0.60711639
97MP0002572_abnormal_emotion/affect_behav0.60268977
98MP0002111_abnormal_tail_morphology0.59124377
99MP0005248_abnormal_Harderian_gland0.58519183
100MP0000049_abnormal_middle_ear0.57843631

Predicted human phenotypes

RankGene SetZ-score
1Mutism (HP:0002300)4.48060768
2Inability to walk (HP:0002540)4.23081008
3Confusion (HP:0001289)4.00957723
4Chromosomal breakage induced by crosslinking agents (HP:0003221)3.87815678
5Birth length less than 3rd percentile (HP:0003561)3.76000012
6Concave nail (HP:0001598)3.67527979
7Chromsome breakage (HP:0040012)3.28144588
8Meckel diverticulum (HP:0002245)3.23772156
9Sensory axonal neuropathy (HP:0003390)3.15929140
10Colon cancer (HP:0003003)3.14616850
11Aplasia/Hypoplasia of the uvula (HP:0010293)3.10617801
12Abnormality of the labia minora (HP:0012880)3.09060014
13Abnormality of the ileum (HP:0001549)3.08455302
14Reticulocytopenia (HP:0001896)3.00419506
15Congenital, generalized hypertrichosis (HP:0004540)2.89770205
16Acute necrotizing encephalopathy (HP:0006965)2.88589805
17Abnormal number of erythroid precursors (HP:0012131)2.87872076
18Abnormality of alanine metabolism (HP:0010916)2.86783542
19Hyperalaninemia (HP:0003348)2.86783542
20Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.86783542
21Abnormal biliary tract physiology (HP:0012439)2.82238789
22Bile duct proliferation (HP:0001408)2.82238789
23Acute encephalopathy (HP:0006846)2.80594442
24Abnormality of the preputium (HP:0100587)2.79366182
25Morphological abnormality of the pyramidal tract (HP:0002062)2.79237080
26Increased hepatocellular lipid droplets (HP:0006565)2.78084893
27Methylmalonic acidemia (HP:0002912)2.77515500
28Pancreatic cysts (HP:0001737)2.76895085
29Progressive inability to walk (HP:0002505)2.71823349
30Abnormality of chromosome stability (HP:0003220)2.71749276
31Lipid accumulation in hepatocytes (HP:0006561)2.66714190
32Abnormality of serum amino acid levels (HP:0003112)2.63246743
33True hermaphroditism (HP:0010459)2.62947818
34Mitochondrial inheritance (HP:0001427)2.61322116
35Abnormality of midbrain morphology (HP:0002418)2.59206684
36Molar tooth sign on MRI (HP:0002419)2.59206684
37Nephronophthisis (HP:0000090)2.52836493
38Cerebral hypomyelination (HP:0006808)2.51464072
39Triphalangeal thumb (HP:0001199)2.50901820
40Duplicated collecting system (HP:0000081)2.50533177
41Increased CSF lactate (HP:0002490)2.47339848
42Paraparesis (HP:0002385)2.46291621
43Abnormal mitochondria in muscle tissue (HP:0008316)2.45283309
44Pancreatic fibrosis (HP:0100732)2.42615850
45Abnormality of the pons (HP:0007361)2.33137725
46Hypoplasia of the pons (HP:0012110)2.32141718
47Abnormality of cells of the erythroid lineage (HP:0012130)2.31786751
48Decreased central vision (HP:0007663)2.31062987
49Tubular atrophy (HP:0000092)2.30492363
50Abnormality of glycine metabolism (HP:0010895)2.29086782
51Abnormality of serine family amino acid metabolism (HP:0010894)2.29086782
52Absent thumb (HP:0009777)2.25173214
53Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.24862279
54Methylmalonic aciduria (HP:0012120)2.24240079
55Hepatocellular necrosis (HP:0001404)2.24051513
56Optic nerve hypoplasia (HP:0000609)2.23856199
57Oral leukoplakia (HP:0002745)2.22988335
58Dyschromatopsia (HP:0007641)2.22737505
59Increased serum lactate (HP:0002151)2.21907343
60Progressive macrocephaly (HP:0004481)2.20714898
61Microvesicular hepatic steatosis (HP:0001414)2.19850131
62Abnormality of the renal collecting system (HP:0004742)2.19832293
63Aplastic anemia (HP:0001915)2.18366895
64Lactic acidosis (HP:0003128)2.16410461
65Hepatic necrosis (HP:0002605)2.16314099
66Duodenal stenosis (HP:0100867)2.16118424
67Small intestinal stenosis (HP:0012848)2.16118424
68Horseshoe kidney (HP:0000085)2.14200534
69Type II lissencephaly (HP:0007260)2.13394780
70Hyperglycinemia (HP:0002154)2.11602425
71Abolished electroretinogram (ERG) (HP:0000550)2.09927232
72Cerebral edema (HP:0002181)2.07035263
73Respiratory difficulties (HP:0002880)2.05156116
74External ophthalmoplegia (HP:0000544)2.04150659
75Testicular atrophy (HP:0000029)2.02697241
76Sloping forehead (HP:0000340)2.02008543
77Abnormality of the carotid arteries (HP:0005344)1.98736596
78Abnormality of homocysteine metabolism (HP:0010919)1.96277051
79Homocystinuria (HP:0002156)1.96277051
80Clubbing of toes (HP:0100760)1.96178804
81Increased intramyocellular lipid droplets (HP:0012240)1.94815017
82Brittle hair (HP:0002299)1.94211017
83CNS hypomyelination (HP:0003429)1.91060120
84Septo-optic dysplasia (HP:0100842)1.87190692
85Dandy-Walker malformation (HP:0001305)1.85061806
86Pancytopenia (HP:0001876)1.83253360
87Hypophosphatemic rickets (HP:0004912)1.82878723
88Duplication of thumb phalanx (HP:0009942)1.81350161
89Increased serum pyruvate (HP:0003542)1.80908654
90Abnormal hair whorl (HP:0010721)1.80029558
91Cerebral hemorrhage (HP:0001342)1.78666119
92Severe muscular hypotonia (HP:0006829)1.76139183
93Furrowed tongue (HP:0000221)1.75111201
94Abnormality of the duodenum (HP:0002246)1.74711350
95Decreased activity of mitochondrial respiratory chain (HP:0008972)1.74303326
96Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.74303326
97Large for gestational age (HP:0001520)1.74259666
98Lethargy (HP:0001254)1.73489146
99Increased muscle lipid content (HP:0009058)1.72984658
100Absent radius (HP:0003974)1.72794556

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ZAK3.97092493
2BUB13.19376196
3VRK23.04933374
4ADRBK23.01435408
5TSSK62.69461450
6PAK42.54056009
7VRK12.47010092
8TRIM282.40987004
9MST42.26917603
10BCKDK2.26653487
11WNK32.24281159
12SRPK11.99505907
13PLK31.90006558
14TLK11.89902731
15MKNK11.87997367
16CDC71.85371533
17BCR1.80335639
18MKNK21.73815045
19PBK1.68858768
20NUAK11.55468862
21TNIK1.52247833
22DYRK21.51871542
23MAP3K41.50670021
24GRK11.48898675
25TIE11.48560588
26TXK1.48550782
27SIK31.46592660
28BMPR1B1.45690161
29TTK1.44024649
30WNK41.40782262
31EIF2AK11.35871875
32KDR1.34811119
33NME11.33447850
34CSNK1G11.30505315
35OXSR11.30142244
36NEK11.29738019
37PLK11.28194168
38BRSK21.24056642
39TAF11.23472073
40WEE11.23245531
41CSNK1G31.22326107
42CSNK1G21.21225922
43EIF2AK31.19185363
44CSNK1A1L1.18205123
45ACVR1B1.04969678
46PINK11.02759945
47ALK1.00993616
48MAP3K120.94857299
49TGFBR10.93247524
50CDK80.91133058
51CDK190.89622806
52PASK0.88211969
53ATR0.86911011
54DAPK20.86665866
55DYRK30.81950982
56STK160.81645339
57BRSK10.81247010
58PLK20.80546115
59DAPK10.79944871
60ERBB30.78682787
61RPS6KA50.76765832
62DYRK1A0.76625110
63PDK20.67967368
64MAP4K20.67755378
65EPHA40.67302081
66PLK40.66488940
67MAPK130.65949655
68PRKD30.65885104
69LIMK10.60180983
70ABL20.55021769
71CSNK2A10.54992754
72ADRBK10.54536515
73STK390.54373827
74AURKB0.50456081
75CAMKK20.48693387
76RPS6KA40.48535033
77MAPKAPK30.48373707
78AKT20.48049443
79ATM0.47620478
80MAP2K60.46053702
81FER0.45135451
82TEC0.43848689
83CSNK2A20.43678787
84CAMK10.37263083
85OBSCN0.37004462
86INSRR0.36639942
87PRKCQ0.35508267
88DAPK30.35434342
89CDK180.35291727
90EIF2AK20.34285136
91PRKCE0.34117858
92STK40.32954614
93NLK0.32401770
94PKN10.31739353
95CAMK2A0.31671396
96CDK90.30929604
97CHEK20.29231901
98CDK140.29011407
99MAPKAPK50.28284928
100FRK0.28056430

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.99832901
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.41626319
3Vitamin B6 metabolism_Homo sapiens_hsa007503.09487490
4Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.55117730
5Homologous recombination_Homo sapiens_hsa034402.47856152
6Protein export_Homo sapiens_hsa030602.38103652
7Non-homologous end-joining_Homo sapiens_hsa034502.35286233
8Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.31620475
9Oxidative phosphorylation_Homo sapiens_hsa001902.22282729
10RNA polymerase_Homo sapiens_hsa030202.21404703
11Basal transcription factors_Homo sapiens_hsa030222.20338704
12Mismatch repair_Homo sapiens_hsa034302.17714553
13DNA replication_Homo sapiens_hsa030302.04770407
14One carbon pool by folate_Homo sapiens_hsa006702.04332944
15Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.99911625
16Vitamin digestion and absorption_Homo sapiens_hsa049771.99449707
17Butanoate metabolism_Homo sapiens_hsa006501.91211489
18Parkinsons disease_Homo sapiens_hsa050121.86939689
19Fanconi anemia pathway_Homo sapiens_hsa034601.85456506
20Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.77433482
21Selenocompound metabolism_Homo sapiens_hsa004501.75600528
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.74662950
23Propanoate metabolism_Homo sapiens_hsa006401.72461297
24Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.65157810
252-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.59465767
26Cysteine and methionine metabolism_Homo sapiens_hsa002701.55772840
27Phototransduction_Homo sapiens_hsa047441.50641534
28Nucleotide excision repair_Homo sapiens_hsa034201.50315475
29Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.47092026
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.46653709
31Pyrimidine metabolism_Homo sapiens_hsa002401.46029498
32RNA degradation_Homo sapiens_hsa030181.45149205
33RNA transport_Homo sapiens_hsa030131.43473739
34Base excision repair_Homo sapiens_hsa034101.38385166
35Steroid biosynthesis_Homo sapiens_hsa001001.38268497
36Huntingtons disease_Homo sapiens_hsa050161.34515450
37Ribosome_Homo sapiens_hsa030101.33317413
38Pyruvate metabolism_Homo sapiens_hsa006201.30799131
39Spliceosome_Homo sapiens_hsa030401.28417208
40Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.28211209
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.27685223
42Biosynthesis of amino acids_Homo sapiens_hsa012301.13815470
43Nitrogen metabolism_Homo sapiens_hsa009101.11608633
44Primary bile acid biosynthesis_Homo sapiens_hsa001201.11381885
45Peroxisome_Homo sapiens_hsa041461.07320070
46Systemic lupus erythematosus_Homo sapiens_hsa053221.06516990
47Alzheimers disease_Homo sapiens_hsa050101.03903908
48Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.03641662
49Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.01760809
50Purine metabolism_Homo sapiens_hsa002301.01446022
51Sulfur relay system_Homo sapiens_hsa041221.00834154
52Arginine and proline metabolism_Homo sapiens_hsa003300.96670203
53Fatty acid elongation_Homo sapiens_hsa000620.95659682
54Carbon metabolism_Homo sapiens_hsa012000.93607739
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.88855939
56Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.87058168
57Cell cycle_Homo sapiens_hsa041100.81333634
58Tryptophan metabolism_Homo sapiens_hsa003800.76605577
59Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.76454421
60Alcoholism_Homo sapiens_hsa050340.76161773
61Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.73074243
62Cardiac muscle contraction_Homo sapiens_hsa042600.71115348
63Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.68759528
64Metabolic pathways_Homo sapiens_hsa011000.67493933
65Taste transduction_Homo sapiens_hsa047420.65145109
66Retinol metabolism_Homo sapiens_hsa008300.61708687
67Histidine metabolism_Homo sapiens_hsa003400.61450911
68Nicotine addiction_Homo sapiens_hsa050330.60915297
69Linoleic acid metabolism_Homo sapiens_hsa005910.59180702
70Pentose and glucuronate interconversions_Homo sapiens_hsa000400.58104900
71Fatty acid metabolism_Homo sapiens_hsa012120.53466007
72Glutathione metabolism_Homo sapiens_hsa004800.50463330
73Fatty acid biosynthesis_Homo sapiens_hsa000610.48885535
74Circadian rhythm_Homo sapiens_hsa047100.48745542
75Folate biosynthesis_Homo sapiens_hsa007900.47543007
76beta-Alanine metabolism_Homo sapiens_hsa004100.46484363
77Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.45958948
78Fatty acid degradation_Homo sapiens_hsa000710.45618257
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45539966
80alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.43587987
81mRNA surveillance pathway_Homo sapiens_hsa030150.43518407
82Cyanoamino acid metabolism_Homo sapiens_hsa004600.42779542
83Chemical carcinogenesis_Homo sapiens_hsa052040.36942321
84Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36903530
85Ether lipid metabolism_Homo sapiens_hsa005650.36659419
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36622298
87Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.35805911
88Steroid hormone biosynthesis_Homo sapiens_hsa001400.31479864
89Collecting duct acid secretion_Homo sapiens_hsa049660.31169330
90Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.31002744
91Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.30817310
92Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.30527815
93p53 signaling pathway_Homo sapiens_hsa041150.28805863
94Mineral absorption_Homo sapiens_hsa049780.25237904
95Caffeine metabolism_Homo sapiens_hsa002320.20927292
96Fat digestion and absorption_Homo sapiens_hsa049750.19249364
97Oocyte meiosis_Homo sapiens_hsa041140.18700347
98Regulation of autophagy_Homo sapiens_hsa041400.18656695
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.17537281
100Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.17180252

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